Information on CVID12
Name: NFKB1 insufficiency | Acronym: CVID12
Alt. names: NFKB1 haploinsufficiency | Immunodeficiency, common variable, 12
Gene: NFKB1 | MOI: Autosomal dominant | Mechanism of action: Haploinsufficiency
No. of cases in DB: 317 | First reported in: 2015
Last updated on: 2024-01-18 14:07:06 by Andrés Caballero-Oteyza
Description
A primary immunodeficiency characterized by defective B-cell development and antibody deficiency in conjunction with a broad spectrum of autoinflammatory and immune dysregulatory phenotypes. Of note, patients show expansion of CD21low B-cell populations and reduction of switched memory B cells (PMID: 29477724, 32278790). Fliegauf et al. (2015) reported the first 10 CVID individuals in 3 unrelated families, with the remaining carriers being either unaffected or hypogammaglobulinemic (PMID: 26279205). The authors proposed p50 haploinsufficiency as the underlying pathophysiological mechanism. The subsequent clinical and mutational spectrum has been extended by the identification of NFKB1 mutations in more than hundred CVID patients (PMID: 27379089, 29867916, 29867917, 30363934, 31857261, 31942606, 32047491, 34975878). There are another ~100 NFKB1 mutation carriers reported in the literature, who have PAD features but were not specifically diagnosed with CVID, or were reportedly unaffected. This has led some to consider NFKB1 to be the most common monogenic cause of CVID in Europeans (PMID: 29477724, 32278790).
Management
Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Hypogammaglobulinemia |
151 (69.3%) | 25 (11.5%) | 42 (19.3%) |
| 2 | (unusual) Respiratory tract infection |
146 (67.0%) | 13 (6.0%) | 59 (27.1%) |
| 3 | Common variable immunodeficiency |
120 (55.1%) | 0 (0.0%) | 98 (45.0%) |
| 4 | Decreased IgG levels |
116 (53.2%) | 32 (14.7%) | 70 (32.1%) |
| 5 | Recurrent upper respiratory tract infection |
110 (50.5%) | 16 (7.3%) | 92 (42.2%) |
| 6 | Decreased IgA levels |
104 (47.7%) | 46 (21.1%) | 68 (31.2%) |
| 7 | Lung disease |
97 (44.5%) | 39 (17.9%) | 82 (37.6%) |
| 8 | Decreased IgM levels |
93 (42.7%) | 61 (28.0%) | 64 (29.4%) |
| 9 | Abnormal lymphoproliferation |
91 (41.7%) | 56 (25.7%) | 71 (32.6%) |
| 10 | Autoimmunity |
88 (40.4%) | 59 (27.1%) | 71 (32.6%) |
| 11 | Pneumonia |
87 (39.9%) | 42 (19.3%) | 89 (40.8%) |
| 12 | Splenomegaly |
71 (32.6%) | 52 (23.9%) | 95 (43.6%) |
| 13 | Autoimmune cytopenia |
66 (30.3%) | 63 (28.9%) | 89 (40.8%) |
| 14 | Enteropathy |
61 (28.0%) | 77 (35.3%) | 80 (36.7%) |
| 15 | Lymphadenopathy |
57 (26.2%) | 71 (32.6%) | 90 (41.3%) |
| 16 | Sinusitis |
55 (25.2%) | 0 (0.0%) | 163 (74.8%) |
| 17 | Frequent skin infections |
53 (24.3%) | 70 (32.1%) | 95 (43.6%) |
| 18 | Hepatopathy |
50 (22.9%) | 78 (35.8%) | 90 (41.3%) |
| 19 | (unusual) Viral infection |
48 (22.0%) | 4 (1.8%) | 166 (76.2%) |
| 20 | Decreased proportion of switched memory B cells |
46 (21.1%) | 3 (1.4%) | 169 (77.5%) |
| 21 | Diarrhea |
42 (19.3%) | 84 (38.5%) | 92 (42.2%) |
| 22 | Unusual gastrointestinal infection |
32 (14.7%) | 77 (35.3%) | 109 (50.0%) |
| 23 | Bronchiectasis |
32 (14.7%) | 71 (32.6%) | 115 (52.8%) |
| 24 | Autoimmune thrombocytopenia |
30 (13.8%) | 0 (0.0%) | 188 (86.2%) |
| 25 | Reduced number of B cells |
29 (13.3%) | 28 (12.8%) | 161 (73.9%) |
| 26 | Atopy |
29 (13.3%) | 1 (0.5%) | 188 (86.2%) |
| 27 | (unusual) Bacterial infection |
26 (11.9%) | 3 (1.4%) | 189 (86.7%) |
| 28 | Autoimmune hemolytic anemia |
26 (11.9%) | 0 (0.0%) | 192 (88.1%) |
| 29 | Nervous system abnormality |
26 (11.9%) | 85 (39.0%) | 107 (49.1%) |
| 30 | Hepatomegaly |
26 (11.9%) | 82 (37.6%) | 110 (50.5%) |
| 31 | Arthritis |
26 (11.9%) | 97 (44.5%) | 95 (43.6%) |
| 32 | Otitis media |
24 (11.0%) | 0 (0.0%) | 194 (89.0%) |
| 33 | Malignant neoplasm |
23 (10.6%) | 94 (43.1%) | 101 (46.3%) |
| 34 | Varicella zoster virus infection |
23 (10.6%) | 1 (0.5%) | 194 (89.0%) |
| 35 | Aphthous oral ulcer |
23 (10.6%) | 93 (42.7%) | 102 (46.8%) |
| 36 | Systemic autoinflammation |
22 (10.1%) | 5 (2.3%) | 191 (87.6%) |
| 37 | Reduced NK cell number |
20 (9.2%) | 19 (8.7%) | 179 (82.1%) |
| 38 | Cardiovascular system abnormality |
20 (9.2%) | 91 (41.7%) | 107 (49.1%) |
| 39 | Abscess |
19 (8.7%) | 90 (41.3%) | 109 (50.0%) |
| 40 | Skin abnormality |
19 (8.7%) | 2 (0.9%) | 197 (90.4%) |
| 41 | Allergy |
18 (8.3%) | 0 (0.0%) | 200 (91.7%) |
| 42 | Reduced ab-response to pneumococcal polysaccharide vaccine |
18 (8.3%) | 3 (1.4%) | 197 (90.4%) |
| 43 | Bronchitis |
17 (7.8%) | 0 (0.0%) | 201 (92.2%) |
| 44 | Recurrent lower respiratory tract infections |
15 (6.9%) | 0 (0.0%) | 203 (93.1%) |
| 45 | Septicaemia |
15 (6.9%) | 99 (45.4%) | 104 (47.7%) |
| 46 | Leukocytosis |
15 (6.9%) | 0 (0.0%) | 203 (93.1%) |
| 47 | Neutropenia |
15 (6.9%) | 0 (0.0%) | 203 (93.1%) |
| 48 | Autoimmune antibody positivity |
15 (6.9%) | 22 (10.1%) | 181 (83.0%) |
| 49 | Reduced IgG2 levels |
14 (6.4%) | 0 (0.0%) | 204 (93.6%) |
| 50 | Endocrine system abnormality |
14 (6.4%) | 0 (0.0%) | 204 (93.6%) |
| 51 | Asthma |
14 (6.4%) | 0 (0.0%) | 204 (93.6%) |
| 52 | Thrombocytopenia |
13 (6.0%) | 0 (0.0%) | 205 (94.0%) |
| 53 | Recurrent fevers |
13 (6.0%) | 0 (0.0%) | 205 (94.0%) |
| 54 | Autoimmune thyroiditis |
13 (6.0%) | 101 (46.3%) | 104 (47.7%) |
| 55 | Abdominal pain |
13 (6.0%) | 1 (0.5%) | 204 (93.6%) |
| 56 | Increased proportion of CD21low B cells |
12 (5.5%) | 3 (1.4%) | 203 (93.1%) |
| 57 | Fever |
12 (5.5%) | 2 (0.9%) | 204 (93.6%) |
| 58 | Coombs Test Positive |
12 (5.5%) | 2 (0.9%) | 204 (93.6%) |
| 59 | Reduced T cell count |
12 (5.5%) | 31 (14.2%) | 175 (80.3%) |
| 60 | Celiac disease |
12 (5.5%) | 99 (45.4%) | 107 (49.1%) |
| 61 | Arthralgia |
11 (5.1%) | 1 (0.5%) | 206 (94.5%) |
| 62 | Elevated C-reactive protein |
11 (5.1%) | 0 (0.0%) | 207 (95.0%) |
| 63 | Leukopenia |
10 (4.6%) | 0 (0.0%) | 208 (95.4%) |
| 64 | Severe Norovirus infection |
9 (4.1%) | 0 (0.0%) | 209 (95.9%) |
| 65 | (unusual) Urinary tract infection |
9 (4.1%) | 0 (0.0%) | 209 (95.9%) |
| 66 | Recurrent streptococcus pneumoniae infections |
9 (4.1%) | 0 (0.0%) | 209 (95.9%) |
| 67 | Recurrent Haemophilus influenzae infections |
9 (4.1%) | 0 (0.0%) | 209 (95.9%) |
| 68 | Non-Hodgkin lymphoma |
9 (4.1%) | 0 (0.0%) | 209 (95.9%) |
| 69 | Cervical lymphadenopathy |
9 (4.1%) | 0 (0.0%) | 209 (95.9%) |
| 70 | Nodular regenerative hyperplasia of liver |
9 (4.1%) | 0 (0.0%) | 209 (95.9%) |
| 71 | Decreased circulating level of specific antibody |
9 (4.1%) | 0 (0.0%) | 209 (95.9%) |
| 72 | Pyoderma gangrenosum |
8 (3.7%) | 0 (0.0%) | 210 (96.3%) |
| 73 | Hypothyroidism |
8 (3.7%) | 0 (0.0%) | 210 (96.3%) |
| 74 | Hepatosplenomegaly |
8 (3.7%) | 4 (1.8%) | 206 (94.5%) |
| 75 | Reduced IgG1 levels |
8 (3.7%) | 0 (0.0%) | 210 (96.3%) |
| 76 | Decreased proportion of CD4 Th cells |
8 (3.7%) | 2 (0.9%) | 208 (95.4%) |
| 77 | Chronic obstructive pulmonary disease |
8 (3.7%) | 0 (0.0%) | 210 (96.3%) |
| 78 | Eczema |
8 (3.7%) | 1 (0.5%) | 209 (95.9%) |
| 79 | Mucocutaneous candidiasis |
7 (3.2%) | 0 (0.0%) | 211 (96.8%) |
| 80 | Lymphopenia |
7 (3.2%) | 3 (1.4%) | 208 (95.4%) |
| 81 | Atrophic gastritis |
7 (3.2%) | 104 (47.7%) | 107 (49.1%) |
| 82 | Decreased IgE levels |
7 (3.2%) | 0 (0.0%) | 211 (96.8%) |
| 83 | Inflammation of the large intestine |
7 (3.2%) | 104 (47.7%) | 107 (49.1%) |
| 84 | Drug allergy |
6 (2.8%) | 0 (0.0%) | 212 (97.3%) |
| 85 | Reduced ab-response to tetanus vaccine |
6 (2.8%) | 9 (4.1%) | 203 (93.1%) |
| 86 | Rosacea |
6 (2.8%) | 0 (0.0%) | 212 (97.3%) |
| 87 | Psoriasiform dermatitis |
6 (2.8%) | 1 (0.5%) | 211 (96.8%) |
| 88 | Portal hypertension |
6 (2.8%) | 0 (0.0%) | 212 (97.3%) |
| 89 | Granulomatous-lymphocytic interstitial lung disease |
6 (2.8%) | 0 (0.0%) | 212 (97.3%) |
| 90 | Herpes Simplex Virus Infection |
6 (2.8%) | 2 (0.9%) | 210 (96.3%) |
| 91 | (unusual) Epstein-Barr virus infection |
6 (2.8%) | 7 (3.2%) | 205 (94.0%) |
| 92 | Pulmonary fibrosis |
6 (2.8%) | 0 (0.0%) | 212 (97.3%) |
| 93 | Hepatitis |
6 (2.8%) | 4 (1.8%) | 208 (95.4%) |
| 94 | Pancytopenia |
6 (2.8%) | 1 (0.5%) | 211 (96.8%) |
| 95 | Neutrophilia |
6 (2.8%) | 0 (0.0%) | 212 (97.3%) |
| 96 | Sinopulmonary infections |
6 (2.8%) | 0 (0.0%) | 212 (97.3%) |
| 97 | negative ab-response to diphtheria vaccine |
5 (2.3%) | 1 (0.5%) | 212 (97.3%) |
| 98 | Osteoporosis |
5 (2.3%) | 0 (0.0%) | 213 (97.7%) |
| 99 | Vasculitis |
5 (2.3%) | 106 (48.6%) | 107 (49.1%) |
| 100 | Reduced proportion of CD8 T cells |
5 (2.3%) | 4 (1.8%) | 209 (95.9%) |
| 101 | Warts |
5 (2.3%) | 1 (0.5%) | 212 (97.3%) |
| 102 | Anemia |
5 (2.3%) | 0 (0.0%) | 213 (97.7%) |
| 103 | Campylobacter infection |
5 (2.3%) | 0 (0.0%) | 213 (97.7%) |
| 104 | Fatigue |
5 (2.3%) | 1 (0.5%) | 212 (97.3%) |
| 105 | Conjunctivitis |
5 (2.3%) | 0 (0.0%) | 213 (97.7%) |
| 106 | Generalized lymphadenopathy |
5 (2.3%) | 1 (0.5%) | 212 (97.3%) |
| 107 | Tonsillitis |
5 (2.3%) | 0 (0.0%) | 213 (97.7%) |
| 108 | Rhinitis |
5 (2.3%) | 0 (0.0%) | 213 (97.7%) |
| 109 | Clostridium difficile colitis |
4 (1.8%) | 0 (0.0%) | 214 (98.2%) |
| 110 | Atopic dermatitis |
4 (1.8%) | 0 (0.0%) | 214 (98.2%) |
| 111 | Villous atrophy |
4 (1.8%) | 0 (0.0%) | 214 (98.2%) |
| 112 | B-cell lymphoma |
4 (1.8%) | 0 (0.0%) | 214 (98.2%) |
| 113 | Autoimmune neutropenia |
4 (1.8%) | 0 (0.0%) | 214 (98.2%) |
| 114 | Recurrent ear infections |
4 (1.8%) | 0 (0.0%) | 214 (98.2%) |
| 115 | Vitiligo |
4 (1.8%) | 1 (0.5%) | 213 (97.7%) |
| 116 | Necrotizing cellulitis |
4 (1.8%) | 0 (0.0%) | 214 (98.2%) |
| 117 | Decreased lymphocyte proliferation in response to mitogen: SAC |
4 (1.8%) | 0 (0.0%) | 214 (98.2%) |
| 118 | Elevated hepatic transaminases |
4 (1.8%) | 0 (0.0%) | 214 (98.2%) |
| 119 | Pharyngitis |
4 (1.8%) | 0 (0.0%) | 214 (98.2%) |
| 120 | Interstitial lung disease |
4 (1.8%) | 2 (0.9%) | 212 (97.3%) |
| 121 | Alopecia |
4 (1.8%) | 0 (0.0%) | 214 (98.2%) |
| 122 | Urticaria |
4 (1.8%) | 0 (0.0%) | 214 (98.2%) |
| 123 | (unusual) Cytomegalovirus infection |
4 (1.8%) | 7 (3.2%) | 207 (95.0%) |
| 124 | Breast carcinoma |
4 (1.8%) | 0 (0.0%) | 214 (98.2%) |
| 125 | Myocarditis |
4 (1.8%) | 0 (0.0%) | 214 (98.2%) |
| 126 | cirrhosis |
4 (1.8%) | 0 (0.0%) | 214 (98.2%) |
| 127 | Reduced proportion of CD4 T cells |
4 (1.8%) | 0 (0.0%) | 214 (98.2%) |
| 128 | Helicobacter pylori infection |
4 (1.8%) | 1 (0.5%) | 213 (97.7%) |
| 129 | Recurrent mycobacterium avium complex infections |
4 (1.8%) | 0 (0.0%) | 214 (98.2%) |
| 130 | Panhypogammaglobulinemia |
4 (1.8%) | 0 (0.0%) | 214 (98.2%) |
| 131 | Oral ulcer |
3 (1.4%) | 1 (0.5%) | 214 (98.2%) |
| 132 | Knee pain |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 133 | Colitis |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 134 | Recurrent shingles |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 135 | Vaginal mucosal ulceration |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 136 | Agammaglobulinemia |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 137 | Malabsorption |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 138 | Cholecystitis |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 139 | Autoimmune enteropathy |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 140 | repeated bacterial infections |
3 (1.4%) | 1 (0.5%) | 214 (98.2%) |
| 141 | Behcet disease |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 142 | Nephrolithiasis |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 143 | Type I diabetes mellitus |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 144 | Coronary artery atherosclerosis |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 145 | Lymphocytosis |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 146 | Reduced IgG3 levels |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 147 | Recurrent viral infections |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 148 | Rheumatoid arthritis |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 149 | Vulvovaginal candidiasis |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 150 | Migraine |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 151 | Enteritis |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 152 | Pulmonary granulomatosis |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 153 | Onychomycosis |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 154 | Herpes labialis, recurrent |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 155 | Unusual infection |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 156 | Pleural empyema |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 157 | Pyelonephritis |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 158 | Ascites |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 159 | Headaches |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 160 | Lymphocytic colitis |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 161 | Immune dysregulation |
3 (1.4%) | 1 (0.5%) | 214 (98.2%) |
| 162 | Salmonella infection |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 163 | Cutaneous abscess |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 164 | Granulomatosis |
3 (1.4%) | 2 (0.9%) | 213 (97.7%) |
| 165 | Mumps |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 166 | Keratitis |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 167 | Necrotizing fasciitis |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 168 | Decreased proportion of regulatory T cells |
3 (1.4%) | 0 (0.0%) | 215 (98.6%) |
| 169 | Sterile abscess |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 170 | Neutrophilic infiltration of the skin |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 171 | Negative ab-response to vaccination |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 172 | Rotator cuff tear |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 173 | Fructose intolerance |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 174 | Lactose intolerance |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 175 | Subglottic laryngitis |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 176 | Plantar warts |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 177 | Pharyngalgia |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 178 | Cytomegalovirus colitis |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 179 | Reduced IgG4 levels |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 180 | Lymphoid interstitial pneumonia |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 181 | Pneumocystis jiroveci pneumonia |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 182 | Cellulitis |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 183 | Recurrent pharyngitis |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 184 | Osteopenia |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 185 | Absent ab-response to pneumococcal polysaccharide vaccine |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 186 | Poor wound healing |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 187 | Parapharyngeal abscess |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 188 | Gluteal abscess |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 189 | Spondyloarthritis |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 190 | Bile acid malabsorption |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 191 | Umbilical hernia |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 192 | Antinuclear antibodies |
2 (0.9%) | 14 (6.4%) | 202 (92.7%) |
| 193 | Dysphagia |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 194 | Nausea and vomiting |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 195 | Increased proportion of naive B cells |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 196 | Increased proportion of CD8 T cells |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 197 | short stature |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 198 | Recurrent infections |
2 (0.9%) | 9 (4.1%) | 207 (95.0%) |
| 199 | Recurrent bronchitis |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
| 200 | Osteoarthritis |
2 (0.9%) | 0 (0.0%) | 216 (99.1%) |
Age of onset
distribution
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|---|
| Immunosuppressive agents | Unspecified (35) for unspecified; Diarrhea & Rheumatoid arthritis; Chronic lung disease; Autoimmune thrombocytopenia; Enteropathy; Sclerosing mesenteritis; Abnormal lymphoproliferation; Rheumatoid arthritis; Langerhans cell histiocytosis; Crohn's disease; B-cell lymphoma; Autoimmune hemolytic anemia; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Granulomatous-lymphocytic interstitial lung disease; Anemia; Eosinophilic esophagitis; Autoimmune enteropathy. Good (19) for (unusual) Epstein-Barr virus infection; Sinusitis; Aphthous oral ulcer & Increased inflammatory response; Arthralgia; Chronic diarrhea; Arteritis; Autoimmune thrombocytopenia; Granulomatous-lymphocytic interstitial lung disease; unspecified; Aphthous oral ulcer; Pyoderma gangrenosum; Optic neuritis & optic papillitis; ulcerative colitis; Rheumatoid arthritis; Vaginal mucosal ulceration; Fever; Autoimmune hemolytic anemia. Negative/Bad (4) for Pyoderma gangrenosum; unspecified; Rheumatoid arthritis; Aplastic anaemia. Absent (3) for Autoimmune thrombocytopenia; Pancytopenia. Moderate (2) for Pancytopenia; Pyoderma gangrenosum. Mild (1) for Behcet disease. Excelent/Remision (1) for Pancytopenia |
| Infliximab | Excelent/Remision (1) for Pyoderma gangrenosum |
| Anti-TNF drug | Unspecified (2) for Crohn's disease; unspecified. Negative/Bad (1) for Pyoderma gangrenosum |
| Adalimumab | Unspecified (2) for Crohn's disease; unspecified |
| JAK inhibitor | Good (1) for unspecified. Unspecified (1) for unspecified |
| Upadacitinib | Unspecified (1) for unspecified |
| Corticosteroids | Unspecified (29) for unspecified; Diarrhea & Rheumatoid arthritis; Chronic lung disease; Autoimmune thrombocytopenia; Enteropathy; Sclerosing mesenteritis; Abnormal lymphoproliferation; Granulomatous-lymphocytic interstitial lung disease; Anemia; Eosinophilic esophagitis; Autoimmune enteropathy. Good (17) for (unusual) Epstein-Barr virus infection; Sinusitis; Aphthous oral ulcer & Increased inflammatory response; Arthralgia; Chronic diarrhea; Arteritis; Autoimmune thrombocytopenia; Granulomatous-lymphocytic interstitial lung disease; unspecified; Aphthous oral ulcer; Pyoderma gangrenosum; Optic neuritis & optic papillitis; Vaginal mucosal ulceration; Fever; Autoimmune hemolytic anemia. Absent (2) for Autoimmune thrombocytopenia; Pancytopenia. Moderate (2) for Pancytopenia; Pyoderma gangrenosum. Negative/Bad (1) for unspecified. Mild (1) for Behcet disease |
| Mesalamine | Good (1) for ulcerative colitis. Excelent/Remision (1) for Microscopic colitis |
| Azathioprine | Good (2) for ulcerative colitis; Autoimmune thrombocytopenia. Unspecified (2) for unspecified. Negative/Bad (1) for Rheumatoid arthritis. Absent (1) for Autoimmune thrombocytopenia |
| Methotrexate | Unspecified (5) for Rheumatoid arthritis; Langerhans cell histiocytosis; Crohn's disease; B-cell lymphoma. Good (1) for Rheumatoid arthritis |
| Prednisolone | Unspecified (8) for Granulomatous-lymphocytic interstitial lung disease; Autoimmune thrombocytopenia; unspecified; Inflammation of the large intestine; Lung disease; Crohn's disease. Good (3) for Vaginal mucosal ulceration; Fever; unspecified. Moderate (2) for Pancytopenia; Pyoderma gangrenosum. Mild (1) for Autoimmune hemolytic anemia. Excelent/Remision (1) for Autoimmune hemolytic anemia |
| Methylprednisolone | Good (3) for Autoimmune hemolytic anemia; Severe Norovirus infection; unspecified. Mild (1) for Behcet disease |
| Anakinra | Unspecified (2) for unspecified. Absent (1) for unspecified. Good (1) for unspecified |
| Interleukin Receptor Antagonist | Unspecified (2) for unspecified. Absent (1) for unspecified. Good (1) for unspecified |
| Dexamethasone | Unspecified (1) for Anemia |
| Azithromycin | Good (1) for unspecified |
| Acyclovir | Negative/Bad (1) for Skin rash. Absent (1) for Elevated C-reactive protein. Good (1) for Esophageal ulceration |
| Biological agents | Unspecified (7) for Lymphadenopathy; unspecified; Autoimmune hemolytic anemia; B-cell lymphoma. Excelent/Remision (2) for Pyoderma gangrenosum; unspecified. Good (1) for (unusual) Epstein-Barr virus infection |
| Monoclonal antibodies | Unspecified (7) for Lymphadenopathy; unspecified; Autoimmune hemolytic anemia; B-cell lymphoma. Excelent/Remision (2) for Pyoderma gangrenosum; unspecified. Good (1) for (unusual) Epstein-Barr virus infection |
| Sirolimus | Unspecified (2) for unspecified; Autoimmune hemolytic anemia. Negative/Bad (1) for unspecified. Excelent/Remision (1) for Pancytopenia |
| Tacrolimus | Good (1) for unspecified. Unspecified (1) for Enteropathy |
| Rituximab | Unspecified (9) for unspecified; Lymphadenopathy; Autoimmune hemolytic anemia; Abnormal lymphoproliferation; B-cell lymphoma. Good (4) for Non-Hodgkin lymphoma; (unusual) Epstein-Barr virus infection; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia |
| Mycophenolate mofetil | Unspecified (4) for unspecified; Autoimmune hemolytic anemia & Autoimmune thrombocytopenia; Abnormal lymphoproliferation |
| Intravenous immunoglobulin therapy | Unspecified (49) for unspecified; Hypogammaglobulinemia; Decreased IgA levels; Decreased IgG levels; Recurrent mycobacterium avium complex infections; Panhypogammaglobulinemia; Anemia; Autoimmune thrombocytopenia. Good (16) for Hypogammaglobulinemia; Hypogammaglobulinemia & Recurrent lower respiratory tract infections; Decreased IgG levels; Behcet disease; unspecified; Autoimmune thrombocytopenia & Decreased IgG levels; Neutropenia; Pyoderma gangrenosum; Common variable immunodeficiency. Moderate (4) for Hypogammaglobulinemia; unspecified; Autoimmune thrombocytopenia. Absent (1) for Pancytopenia. Mild (1) for Recurrent upper respiratory tract infection |
| Appendectomy | Unspecified (1) for unspecified |
| Cyclosporine | Unspecified (3) for unspecified; Enteropathy. Negative/Bad (1) for Aplastic anaemia. Mild (1) for Behcet disease. Good (1) for Pyoderma gangrenosum |
| Budesonide | Unspecified (4) for Eosinophilic esophagitis; Autoimmune enteropathy; unspecified; Enteropathy |
| Antibiotics | Unspecified (22) for Sinusitis; Pneumonia; Helicobacter pylori infection; Recurrent lower respiratory tract infections; Pyoderma gangrenosum; (unusual) Respiratory tract infection; Necrotizing cellulitis; Cellulitis & Septicaemia; unspecified; Disseminated nontuberculous mycobacterial infection; Sterile sepsis; Pleural effusion. Good (9) for Sinusitis; Esophagitis & Parapharyngeal abscess; Pneumonia; Neonatal sepsis; (unusual) Respiratory tract infection; Campylobacter infection; Sterile sepsis; Abnormality of the uterus; unspecified. Absent (6) for (unusual) Respiratory tract infection; Elevated C-reactive protein; Necrotizing fasciitis; Recurrent mycobacterium avium complex infections; Pyoderma gangrenosum; Necrotizing cellulitis. Negative/Bad (3) for Increased inflammatory response; Skin rash; unspecified. Moderate (1) for (unusual) Respiratory tract infection. Excelent/Remision (1) for Severe Norovirus infection |
| Trimethoprim | Unspecified (1) for unspecified |
| Sulfamethoxazole | Unspecified (1) for unspecified |
| Clobetasol | Good (1) for Pyoderma gangrenosum |
| Antifungal agents | Unspecified (3) for unspecified; Pneumocystis jiroveci pneumonia. Good (1) for Onychomycosis |
| Voriconazole | Unspecified (1) for Pneumocystis jiroveci pneumonia |
| Blood transfusion | Unspecified (1) for Anemia |
| Tube feeding | Unspecified (2) for Enteropathy; Protein-losing enteropathy |
| Subcutaneous Immunoglobulin infusions | Unspecified (12) for Decreased IgG levels; unspecified. Good (3) for Decreased IgG levels; Hypogammaglobulinemia & Recurrent upper respiratory tract infection. Moderate (1) for Decreased IgG levels |
| Colchicine | Absent (1) for unspecified |
| Anti-Inflammatory agents | Unspecified (4) for Inflammation of the large intestine; Lung disease; Crohn's disease; unspecified. Excelent/Remision (2) for Microscopic colitis; Autoimmune hemolytic anemia. Mild (1) for Autoimmune hemolytic anemia. Good (1) for ulcerative colitis; Severe Norovirus infection |
| splenectomy | Unspecified (7) for unspecified; Autoimmune hemolytic anemia; Abnormal lymphoproliferation; Autoimmune thrombocytopenia; Splenomegaly |
| Cyclophosphamide | Unspecified (1) for unspecified |
| Anti-neoplastic agents | Unspecified (4) for unspecified; Abnormal lymphoproliferation; Langerhans cell histiocytosis. Good (3) for Non-Hodgkin lymphoma; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia |
| Chlorambucil | Good (1) for Non-Hodgkin lymphoma. Unspecified (1) for Follicular lymphoma |
| Growth hormones | Unspecified (1) for short stature |
| Mercaptopurine | Unspecified (1) for Langerhans cell histiocytosis |
| Surgery | Unspecified (13) for Scoliosis; unspecified; Autoimmune hemolytic anemia; Abnormal lymphoproliferation; Autoimmune thrombocytopenia; Splenomegaly; Cholecystitis; cholelithiasis. Good (2) for Recurrent viral infections & repeated bacterial infections & Tonsillitis; unspecified |
| Loperamide | Unspecified (1) for Diarrhea |
| Ursodeoxycholic Acid | Good (1) for Nodular regenerative hyperplasia of liver |
| Levothyroxine | Unspecified (2) for Autoimmune thyroiditis; Hypothyroidism. Good (1) for Autoimmune thyroiditis |
| Sulfasalazine | Unspecified (2) for Inflammation of the large intestine; Crohn's disease. Good (1) for Rheumatoid arthritis |
| Hematopoietic stem cell transplantation | Good (1) for Recurrent mycobacterium avium complex infections |
| Oxygen therapy | Unspecified (1) for Bronchiectasis |
| Ganciclovir | Unspecified (2) for Persistent CMV viremia; Cytomegalovirus Infection Reactivation |
| Ribavirin | Absent (1) for Severe Norovirus infection. Good (1) for Severe Norovirus infection. Excelent/Remision (1) for Hepatitis C. Unspecified (1) for Severe Norovirus infection |
| Insulin | Unspecified (1) for Type I diabetes mellitus |
| Abatacept | Unspecified (2) for unspecified |
| Valganciclovir | Unspecified (3) for (unusual) Cytomegalovirus infection; Persistent CMV viremia; Cytomegalovirus Infection Reactivation |
| Cholecystectomy | Unspecified (4) for Cholecystitis; unspecified; cholelithiasis |
| Chemotherapy | Unspecified (4) for Follicular lymphoma; T-cell lymphoma; B-cell lymphoma |
| Intravenous nutrition | Unspecified (1) for Protein-losing enteropathy |
| LCH protocol | Excelent/Remision (1) for Langerhans cell histiocytosis |
| Antiepileptic treatment | Unspecified (1) for Seizures |
| Mirtazapine | Unspecified (1) for Progressive leukoencephalopathy |
| Mefloquine | Unspecified (1) for Progressive leukoencephalopathy |
| Eltrombopag | Absent (1) for Aplastic anaemia. Excelent/Remision (1) for Autoimmune thrombocytopenia |
| G-CSF | Good (1) for Neutropenia. Unspecified (1) for unspecified |
| Thrombopoietin Receptor Agonists | Unspecified (1) for unspecified |
| Tonsillectomy | Good (2) for Recurrent viral infections & repeated bacterial infections & Tonsillitis; unspecified. Unspecified (1) for unspecified |
| Antiviral agent | Unspecified (4) for Persistent CMV viremia; Cytomegalovirus Infection Reactivation; Severe Norovirus infection; (unusual) Cytomegalovirus infection. Absent (2) for Elevated C-reactive protein; Severe Norovirus infection. Good (2) for Esophageal ulceration; Severe Norovirus infection. Negative/Bad (1) for Skin rash. Excelent/Remision (1) for Hepatitis C |
| Anti-diabetic Agent | Unspecified (1) for Type I diabetes mellitus |
| Canakinumab | Excelent/Remision (1) for unspecified |
| Antithyroid Drug | Unspecified (2) for Autoimmune thyroiditis; Hypothyroidism. Good (1) for Autoimmune thyroiditis |
317 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
| 101020 |
F | 210008 |
41 | 0 | Definitive | Switzerland | German | PMID:34975878 [Fam.F005:P005]; PMID:32278790 [Fam.AU:II.3(II.3)]; PMID:29403474 [Patient 28 (11)]; PMID:150198 [Fam.AM:II.4(157)]; PMID:27461466 [Fam.199_01:28] |
| 101069 |
F | 211370 |
13 | Definitive | Germany | Turkish | PMID:34975878 [Fam.F039:P039]; PMID:32278790 [Fam.AJ:III.2(III.2)]; PMID:150198 [Fam.BZ:III.2(381)] | |
| 101115 |
F | 210778 | 37 | 3 | Definitive | Germany | Caucasian | PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427] |
| 101122 |
M | 210197 |
21 | Possible | Germany | Italian | PMID:34975878 [Fam.F073:P073]; PMID:150198 [Fam.DZ:II.2(548)] | |
| 101145 |
M | 211221 |
48 | Definitive | Germany | German | PMID:33995346 [Fam.A:III.5(Pat4)]; PMID:150198 [Fam.DV:III.5(531)]; PMID:36105815 [Fam.Y350C:III.5(Y350C/4)] | |
| 101167 |
M | 211470 |
47 | 42 | Disputed | Germany | PMID:34975878 [Fam.F108:P108]; PMID:33486103 [Fam.1:II.1(patient)]; PMID:150198 [Fam.DT:II.1(510)] | |
| 101187 |
F | 211475 |
53 | Refuted | Germany | PMID:34975878 [Fam.F119:P119]; PMID:150198 [Fam.FB:II.1(619)]; PMID:36105815 [Fam.G376S:II.1(daughter)] | ||
| 101218 |
F | 210220 |
6 | 1 | Definitive | Germany | German | PMID:32278790 [Fam.089:III.2(III.2)]; PMID:26279205 [Fam.089:III.2(III2)]; PMID:29403474 [Fam.089 (5):III.2(III2)]; PMID:150198 [Fam.AB:V.4(103)] |
| 101275 |
F | 210220 |
4 | Definitive | Germany | German | PMID:32278790 [Fam.089:III.4(III.4)]; PMID:26279205 [Fam.089:III.4(III4)]; PMID:150198 [Fam.AB:V.6(105)] | |
| 101384 |
M | 210217 | 58 | 25 | Possible | Switzerland | German | PMID:34975878 [Fam.F134:P134]; PMID:32278790 [BN.I.1]; PMID:150198 [Fam.CZ:445]; PMID:36105815 [Y90S] |
| 101461 |
M | 210929 | 59 | 10 | Definitive | Germany | German | PMID:34975878 [Fam.F153:P153]; PMID:32278790 [Z.I.1]; PMID:29403474 [Patient 27 (11)]; PMID:27923702 [Patient 6]; PMID:150198 [Fam.AL:151]; PMID:27461466 [Fam.830_01:27] |
| 101469 |
F | 210220 |
36 | 16 | Definitive | Germany | German | PMID:34975878 [Fam.F156:P156]; PMID:32278790 [Fam.089:II.2(II.2)]; PMID:26279205 [Fam.089:II.2(II2)]; PMID:29403474 [Fam.089 (5):II.2(II2)]; PMID:27923702 [Patient 5]; PMID:150198 [Fam.AB:IV.5(099)]; PMID:27461466 [Fam.089:II.2(25)] |
| 101479 |
F | 210314 |
55 | 33 | Definitive | Germany | German | PMID:34975878 [Fam.F160:P160]; PMID:32278790 [Fam.BF:II.2(II.2)]; PMID:29403474 [Fam.(13):II.1(Patient 2)]; PMID:27923702 [Fam.191:II.1(Patient 2)]; PMID:150198 [Fam.AO:II.2(164)]; GRID:001142 [Fam.#:II.2(FR036)] |
| 101488 |
M | 210401 |
49 | 42 | Possible | Germany | German | PMID:34975878 [Fam.F163:P163]; PMID:32278790 [CG.I.1]; PMID:150198 [Fam.BW:II.1(350)]; PMID:31857261 [Patient 16] |
| 101492 |
M | 210594 | 35 | 32 | Disputed | German | PMID:34975878 [Fam.F165:P165]; PMID:150198 [Fam.GE:800] | |
| 101514 |
M | 210220 |
71 | 64 | Definitive | Germany | German | PMID:32278790 [Fam.089:I.1(I.1)]; PMID:26279205 [Fam.089:I.1(I1)]; PMID:29403474 [Fam.089 (5):I.1(I1)]; PMID:150198 [Fam.AB:III.3(093)]; PMID:27461466 [Fam.089:I.1(24)] |
| 101565 |
M | 211008 |
4 | 1 | Possible | Germany | Caucasian | PMID:34975878 [Fam.F188:P188]; PMID:32278790 [Fam.BS:II.1(II.1)]; PMID:150198 [Fam.DD:II.1(457)]; PMID:36105815 [Fam.M216V:II.1(M216V/1)] |
| 101569 |
F | 210220 |
53 | 39 | Definitive | Germany | German | PMID:34975878 [Fam.F192:P192]; PMID:32278790 [AH.I.1]; PMID:150198 [Fam.AB:IV.3(097)]; PMID:31857261 [Patient 5]; GRID:001142 [FR023] |
| 101630 |
M | 211089 |
25 | 18 | Possible | Germany | German | PMID:34975878 [Fam.F219:P219]; PMID:34975878 [Fam.F219:P219]; PMID:32278790 [BR.I.1]; PMID:32278790 [BR.I.1]; PMID:150198 [Fam.DC:II.2(453)]; PMID:150198 [Fam.DC:II.2(453)]; PMID:36105815 [Fam.R214Q:II.2(R214Q/1)]; PMID:36105815 [Fam.R214Q:II.2(R214Q/1)] |
| 101711 |
M | 210925 |
11 | 1 | Disputed | Germany | Turkish | PMID:34975878 [Fam.F412:P412]; PMID:32278790 [Fam.BT:II.1(II.1)]; PMID:150198 [Fam.DE:II.1(460)]; PMID:36105815 [Fam.R230K:II.1(R230K/2)] |
| 101773 |
M | 210876 |
16 | 11 | Definitive | Germany | German | PMID:34975878 [Fam.F413:P413]; PMID:32278790 [Fam.BK:II.1(II.1)]; PMID:150198 [Fam.CC:II.1(405)]; PMID:36105815 [R57C/1] |
| 101800 |
M | 215769 |
15 | 9 | Definitive | Germany | Caucasian | PMID:34975878 [Fam.F259:P259]; PMID:32278790 [Fam.AT:III.2(III.2)]; PMID:150198 [Fam.BT:IV.1(319)]; PMID:31803180 [Fam.C:III.1(III.1)] |
| 101802 |
F | 211221 |
45 | Definitive | Germany | German | PMID:33995346 [Fam.A:III.2(Pat2)]; PMID:150198 [Fam.DV:III.2(528)]; PMID:36105815 [Fam.Y350C:III.2(Y350C/2)] | |
| 101803 |
F | 211221 |
76 | Definitive | Germany | German | PMID:33995346 [Fam.A:II.2(Pat1)]; PMID:150198 [Fam.DV:II.2(521)]; PMID:36105815 [Fam.Y350C:II.2(Y350C/1)] | |
| 101804 |
M | 211221 |
9 | 2 | Definitive | Germany | German | PMID:33995346 [Fam.A:IV.1(Pat3)]; PMID:150198 [Fam.DV:IV.1(533)]; PMID:36105815 [Fam.Y350C:IV.1(Y350C/3)] |
| 101814 |
F | 211527 | 70 | 68 | Definitive | Germany | German | PMID:34975878 [Fam.F274:P274]; PMID:32278790 [AK.I.1]; PMID:150198 [Fam.CP:435] |
| 102222 |
M | 214917 | 65 | 0 | Definitive | Germany | German | PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C] |
| 104842 |
M | 215579 |
49 | 2 | Definitive | New Zealand | European | PMID:32278790 [Fam.NZ:II.1(II.1)]; PMID:26279205 [Fam.NZ:II.1(II1)]; PMID:29403474 [Fam.NZ (5):II.1(II1)]; PMID:29806948 [Fam.NZ:II.1(II.1)]; PMID:30323807 [Fam.2:II.1(II.1)]; PMID:150198 [Fam.AC:II.1(108)] |
| 104844 |
F | 215579 |
74 | 12 | Definitive | New Zealand | European | PMID:32278790 [Fam.NZ:I.2(I.2)]; PMID:26279205 [Fam.NZ:I.2(I2)]; PMID:29403474 [Fam.NZ (5):I.2(I2)]; PMID:29806948 [Fam.NZ:I.2(I.2)]; PMID:30323807 [Fam.2:I.2(I.2)]; PMID:150198 [Fam.AC:I.2(107)] |
| 104845 |
F | 215579 |
47 | 20 | Definitive | New Zealand | European | PMID:32278790 [Fam.NZ:II.2(II.2)]; PMID:26279205 [Fam.NZ:II.2(II2)]; PMID:29403474 [Fam.NZ (5):II.2(II2)]; PMID:29806948 [Fam.NZ:II.2(II.2)]; PMID:30323807 [Fam.2:II.2(II.2)]; PMID:150198 [Fam.AC:II.2(109)] |
| 104875 |
M | 215579 |
44 | Definitive | New Zealand | European | PMID:32278790 [Fam.NZ:II.3(II.3)]; PMID:26279205 [Fam.NZ:II.3(II3)]; PMID:29806948 [Fam.NZ:II.3(II.3)]; PMID:30323807 [Fam.2:II.3(II.3)]; PMID:150198 [Fam.AC:II.3(110)] | |
| 104876 |
F | 215579 |
15 | Definitive | New Zealand | European | PMID:32278790 [Fam.NZ:III.1(III.1)]; PMID:26279205 [Fam.NZ:III.1(III1)]; PMID:29806948 [Fam.NZ:III.1(III.1)]; PMID:30323807 [Fam.2:III.1(III.1)]; PMID:150198 [Fam.AC:III.1(112)] | |
| 104932 |
F | 215622 |
79 | 64 | Definitive | Australia | Dutch | PMID:32278790 [Fam.NA:II.16(II.16)]; PMID:26279205 [Fam.NL1:II.20(18)]; PMID:29403474 [Fam.NL1 (5):II.20(18)]; PMID:11583829 [Fam.1:II.19(II:19)]; PMID:16639407 [Fam.1:II.20(18)]; PMID:150198 [Fam.AA:II.20(022)] |
| 104941 |
F | 215622 |
Definitive | Australia | Dutch | PMID:32278790 [Fam.NA:II.4(II.4)]; PMID:26279205 [Fam.NL1:II.7(6)]; PMID:11583829 [Fam.1:II.6(II:6)]; PMID:16639407 [Fam.1:II.7(6)]; PMID:150198 [Fam.AA:II.7(009)] | ||
| 104942 |
F | 215622 |
54 | 30 | Definitive | Australia | Dutch | PMID:32278790 [Fam.NA:III.18(III.18)]; PMID:26279205 [Fam.NL1:III.19(57)]; PMID:29403474 [Fam.NL1 (5):III.19(57)]; PMID:150198 [Fam.AA:III.19(045)]; PMID:35242131 [Fam.2:I.1(P2)] |
| 104953 |
F | 215622 |
80 | 29 | Definitive | Australia | Dutch | PMID:32278790 [Fam.NA:II.14(II.14)]; PMID:26279205 [Fam.NL1:II.18(16)]; PMID:29403474 [Fam.NL1 (5):II.18(16)]; PMID:11583829 [Fam.1:II.17(II:17)]; PMID:16639407 [Fam.1:II.18(16)]; PMID:150198 [Fam.AA:II.18(020)] |
| 104956 |
F | 215622 |
77 | 46 | Definitive | Australia | Dutch | PMID:32278790 [Fam.NA:II.18(II.18)]; PMID:26279205 [Fam.NL1:II.22(19)]; PMID:29403474 [Fam.NL1 (5):II.22(19)]; PMID:11583829 [Fam.1:II.21(II:21)]; PMID:16639407 [Fam.1:II.22(19)]; PMID:150198 [Fam.AA:II.22(024)] |
| 104957 |
M | 215622 |
75 | 30 | Definitive | Australia | Dutch | PMID:32278790 [Fam.NA:II.20(II.20)]; PMID:26279205 [Fam.NL1:II.23(21)]; PMID:29403474 [Fam.NL1 (5):II.23(21)]; PMID:11583829 [Fam.1:II.23(II:23)]; PMID:16639407 [Fam.1:II.23(21)]; PMID:150198 [Fam.AA:II.23(025)] |
| 104962 |
F | 215622 |
67 | 52 | Definitive | Australia | Dutch | PMID:32278790 [Fam.NA:III.3(III.3)]; PMID:26279205 [Fam.NL1:III.4(25)]; PMID:29403474 [Fam.NL1 (5):III.4(25)]; PMID:11583829 [Fam.1:III.3(III:3)]; PMID:16639407 [Fam.1:III.4(25)]; PMID:150198 [Fam.AA:III.4(030)] |
| 104970 |
M | 215622 |
55 | 40 | Definitive | Australia | Dutch | PMID:32278790 [Fam.NA:III.13(III.13)]; PMID:26279205 [Fam.NL1:III.12(34)]; PMID:29403474 [Fam.NL1 (5):III.12(34)]; PMID:11583829 [Fam.1:III.12(III:12)]; PMID:16639407 [Fam.1:III.12(34)]; PMID:150198 [Fam.AA:III.12(038)] |
| 104972 |
F | 215622 |
54 | 30 | Definitive | Australia | Dutch | PMID:32278790 [Fam.NA:III.14(III.14)]; PMID:26279205 [Fam.NL1:III.14(36)]; PMID:29403474 [Fam.NL1 (5):III.14(36)]; PMID:11583829 [Fam.1:III.14(III:14)]; PMID:16639407 [Fam.1:III.14(36)]; PMID:27923702 [Patient 4]; PMID:27555455 [Patient 2]; PMID:150198 [Fam.AA:III.14(040)] |
| 104987 |
F | 215622 |
30 | 15 | Definitive | Australia | Dutch | PMID:32278790 [Fam.NA:IV.6(IV.6)]; PMID:26279205 [Fam.NL1:IV.6(48)]; PMID:29403474 [Fam.NL1 (5):IV.6(48)]; PMID:11583829 [Fam.1:IV.5(IV:5)]; PMID:16639407 [Fam.1:IV.5(48)]; PMID:150198 [Fam.AA:IV.6(062)] |
| 104989 |
F | 215622 |
29 | 1 | Definitive | Australia | Dutch | PMID:32278790 [Fam.NA:IV.7(IV.7)]; PMID:26279205 [Fam.NL1:IV.8(49)]; PMID:29403474 [Fam.NL1 (5):IV.8(49)]; PMID:11583829 [Fam.1:IV.6(IV:6)]; PMID:16639407 [Fam.1:IV.6(49)]; PMID:150198 [Fam.AA:IV.8(064)] |
| 104994 |
F | 215622 |
30 | 16 | Definitive | Australia | Dutch | PMID:32278790 [Fam.NA:IV.11(IV.10)]; PMID:26279205 [Fam.NL1:IV.13(62)]; PMID:29403474 [Fam.NL1 (5):IV.13(62)]; PMID:150198 [Fam.AA:IV.14(070)]; PMID:35242131 [Fam.2:II.1(P9)] |
| 105004 |
M | 215622 |
Definitive | Australia | Dutch | PMID:32278790 [Fam.NA:III.23(III.23)]; PMID:26279205 [Fam.NL1:III.25(38)]; PMID:11583829 [Fam.1:III.16(III:16)]; PMID:16639407 [Fam.1:III.16(38)]; PMID:150198 [Fam.AA:III.25(051)] | ||
| 105007 |
F | 215622 |
49 | 34 | Definitive | Australia | Dutch | PMID:32278790 [Fam.NA:III.26(III.26)]; PMID:26279205 [Fam.NL1:III.28(40)]; PMID:29403474 [Fam.NL1 (5):III.28(40)]; PMID:11583829 [Fam.1:III.18(III:18)]; PMID:16639407 [Fam.1:III.19(40)]; PMID:150198 [Fam.AA:III.28(054)] |
| 105008 |
F | 215622 |
47 | Definitive | Australia | Dutch | PMID:32278790 [Fam.NA:III.27(III.27)]; PMID:26279205 [Fam.NL1:III.29(42)]; PMID:29403474 [Fam.NL1 (5):III.29(42)]; PMID:11583829 [Fam.1:III.20(III:20)]; PMID:16639407 [Fam.1:III.20(42)]; PMID:150198 [Fam.AA:III.29(055)] | |
| 105057 |
F | 215635 |
26 | 14 | Definitive | Germany | German | PMID:32278790 [S.I.1]; PMID:29403474 [Patient 1 (8)]; PMID:27365489 [Fam.1:II.1(Pat.1)]; PMID:150198 [Fam.AE:II.1(121)] |
| 105093 |
F | 215639 |
19 | 11 | Definitive | Germany | Israeli | PMID:32278790 [Fam.AA:II.2(II.2)]; PMID:29403474 [Patient 2 (8)]; PMID:27365489 [Fam.2:II.2(Pat.2)]; PMID:150198 [Fam.AF:II.2(127)] |
| 105094 |
M | 215639 |
53 | Definitive | Germany | Israeli | PMID:32278790 [Fam.AA:I.1(I.1)]; PMID:27365489 [Fam.2:I.1(I.1)]; PMID:150198 [Fam.AF:I.1(124)] | |
| 105096 |
F | 215639 |
23 | Definitive | Germany | Israeli | PMID:32278790 [Fam.AA:II.4(II.4)]; PMID:27365489 [Fam.2:II.4(II.4)]; PMID:150198 [Fam.AF:II.4(129)] | |
| 105097 |
M | 215639 |
16 | Definitive | Germany | Israeli | PMID:32278790 [Fam.AA:II.3(II.3)]; PMID:27365489 [Fam.2:II.3(II.3)]; PMID:150198 [Fam.AF:II.3(128)] | |
| 105102 |
M | 215640 |
21 | 5 | Definitive | United Kingdom | European | PMID:32278790 [Fam.A:III.3(III.3)]; PMID:29477724 [Fam.A:III.3(III:3)]; PMID:150198 [Fam.AU:III.3(236)]; PMID:32918165 [Fam.A:III.3(Index)] |
| 105105 |
F | 215643 |
18 | 2 | Definitive | Austria | Caucasian | PMID:32278790 [Fam.AB:II.1(II.1)]; PMID:29403474 [Fam.(7):II.1(Index)]; PMID:27338827 [Fam.1:II.1(II-1)]; PMID:150198 [Fam.AD:II.1(117)] |
| 105108 |
M | 215643 |
Definitive | Austria | Caucasian | PMID:32278790 [Fam.AB:I.2(I.2)]; PMID:29403474 [Fam.(7):I.1(Father)]; PMID:27338827 [Fam.1:I.2(I-2)]; PMID:150198 [Fam.AD:I.1(115)] | ||
| 105110 |
M | 215644 | 48 | 21 | Possible | U.S.A. | North American | PMID:27379089 [P3]; PMID:32278790 [U.I.3]; PMID:29403474 [Patient 3 (10)]; PMID:150198 [Fam.AH:145] |
| 105111 |
F | 215645 | 24 | 19 | Definitive | U.S.A. | North American | PMID:27379089 [P4]; PMID:32278790 [AR.I.4]; PMID:29403474 [Patient 4 (10)]; PMID:150198 [Fam.AI:146] |
| 105112 |
F | 215646 | 25 | 7 | Definitive | U.S.A. | North American | PMID:27379089 [P5]; PMID:32278790 [BM.I.5]; PMID:29403474 [Patient 5 (10)]; PMID:150198 [Fam.AJ:147] |
| 105129 |
M | 215647 |
51 | 42 | Definitive | U.S.A. | North American | PMID:27379089 [Fam.1:c1(P1)]; PMID:32278790 [Fam.BA:II.1(II.1)]; PMID:29403474 [Fam.(10):c1(Patient 1)]; PMID:150198 [Fam.AG:IV.1(143)] |
| 105130 |
F | 215647 |
33 | 19 | Definitive | U.S.A. | North American | PMID:27379089 [Fam.1:c2(P2)]; PMID:32278790 [Fam.BA:II.2(II.2)]; PMID:29403474 [Fam.(10):c2(Patient 2)]; PMID:150198 [Fam.AG:IV.2(144)] |
| 105131 |
M | 215648 | 40 | 7 | Definitive | Italy | Italian | PMID:32278790 [BG.I.1]; PMID:29403474 [Patient 1 (6)]; PMID:27923702 [Patient 1]; PMID:27555455 [Patient 1]; PMID:150198 [Fam.AN:160] |
| 105142 |
M | 210314 |
53 | 38 | Definitive | Germany | German | PMID:32278790 [Fam.BF:II.1(II.1)]; PMID:29403474 [Fam.(13):II.2(Patient 3)]; PMID:27923702 [Fam.191:II.2(Patient 3)]; PMID:150198 [Fam.AO:II.3(165)] |
| 105143 |
F | 215650 | 59 | 30 | Definitive | Germany | German | PMID:32278790 [X.I.1]; PMID:29403474 [Patient 7 (13)]; PMID:27923702 [Patient 7]; PMID:150198 [Fam.AP:168]; GRID:001142 [FR005] |
| 105152 |
F | 215655 |
40 | 3 | Definitive | Germany | Spanish | PMID:32278790 [V.I.1]; PMID:29403474 [Patient 26 (11)]; PMID:150198 [Fam.AK:I.2(149)]; PMID:27461466 [Fam.827_01:26] |
| 105159 |
F | 210220 |
Definitive | Germany | German | PMID:150198 [Fam.AB:II.2(088)] | ||
| 105160 |
M | 210220 |
Definitive | Germany | German | PMID:150198 [Fam.AB:II.3(089)] | ||
| 105165 |
M | 210220 |
Definitive | Germany | German | PMID:150198 [Fam.AB:III.1(091)] | ||
| 105171 |
M | 210220 |
21 | Definitive | Germany | German | PMID:150198 [Fam.AB:V.2(101)] | |
| 105197 |
M | 215666 |
37 | 25 | Definitive | Finland | Finnish | PMID:32278790 [Fam.F1:III.3(III.3)]; PMID:29403474 [Fam.1 (9):III.3(F1.III-3)]; PMID:28115215 [Fam.1:III.3(F1.III-3)]; PMID:150198 [Fam.AQ:III.3(177)]; PMID:36356849 [Fam.6:III.3(F6:III:3)]; PMID:36105815 [Fam.H67R:III.3(H67R/4)] |
| 105209 |
M | 215666 |
39 | 5 | Definitive | Finland | Finnish | PMID:32278790 [Fam.F1:II.1(II.1)]; PMID:28115215 [Fam.1:II.1(F1.II-1)]; PMID:150198 [Fam.AQ:II.1(171)]; PMID:36356849 [Fam.6:II.1(F6:II:1)]; PMID:36105815 [Fam.H67R:II.1(H67R/1)] |
| 105212 |
F | 215666 |
55 | 15 | Definitive | Finland | Finnish | PMID:32278790 [Fam.F1:II.4(II.4)]; PMID:29403474 [Fam.1 (9):II.4(F1.II-4)]; PMID:28115215 [Fam.1:II.4(F1.II-4)]; PMID:150198 [Fam.AQ:II.4(174)]; PMID:36356849 [Fam.6:II.4(F6:II:4)]; PMID:36105815 [Fam.H67R:II.4(H67R/2)] |
| 105214 |
F | 215666 |
40 | 25 | Definitive | Finland | Finnish | PMID:32278790 [Fam.F1:III.2(III.2)]; PMID:29403474 [Fam.1 (9):III.2(F1.III-2)]; PMID:28115215 [Fam.1:III.2(F1.III-2)]; PMID:150198 [Fam.AQ:III.2(176)]; PMID:36356849 [Fam.6:III.2(F6:III:2)]; PMID:36105815 [Fam.H67R:III.2(H67R/3)] |
| 105218 |
F | 215666 |
30 | 24 | Definitive | Finland | Finnish | PMID:32278790 [Fam.F1:III.6(III.6)]; PMID:29403474 [Fam.1 (9):III.6(F1.III-6)]; PMID:28115215 [Fam.1:III.6(F1.III-6)]; PMID:150198 [Fam.AQ:III.6(180)]; PMID:36356849 [Fam.6:III.6(F6:III:6)]; PMID:36105815 [Fam.H67R:III.6(H67R/5)] |
| 105219 |
F | 215666 |
28 | 6 | Definitive | Finland | Finnish | PMID:32278790 [Fam.F1:III.7(III.7)]; PMID:29403474 [Fam.1 (9):III.7(F1.III-7)]; PMID:28115215 [Fam.1:III.7(F1.III-7)]; PMID:150198 [Fam.AQ:III.7(181)]; PMID:36356849 [Fam.6:III.7(F6:III:7)]; PMID:36105815 [Fam.H67R:III.7(H67R/6)] |
| 105220 |
F | 215666 |
25 | 1 | Definitive | Finland | Finnish | PMID:32278790 [Fam.F1:III.8(III.8)]; PMID:29403474 [Fam.1 (9):III.8(F1.III-8)]; PMID:28115215 [Fam.1:III.8(F1.III-8)]; PMID:150198 [Fam.AQ:III.8(182)]; PMID:36356849 [Fam.6:III.8(F6:III:8)]; PMID:36105815 [Fam.H67R:III.8(H67R/7)] |
| 105221 |
M | 215666 |
10 | 0 | Definitive | Finland | Finnish | PMID:32278790 [Fam.F1:IV.2(IV.2)]; PMID:28115215 [Fam.1:IV.1(F1.IV-1)]; PMID:150198 [Fam.AQ:IV.1(183)]; PMID:36356849 [Fam.6:IV.1(F6:IV:1)]; PMID:36105815 [Fam.H67R:IV.1(H67R/8)] |
| 105222 |
F | 215666 |
7 | 0 | Definitive | Finland | Finnish | PMID:32278790 [Fam.F1:IV.1(IV.1)]; PMID:29403474 [Fam.1 (9):IV.2(F1.IV-2)]; PMID:28115215 [Fam.1:IV.2(F1.IV-2)]; PMID:150198 [Fam.AQ:IV.2(184)]; PMID:36356849 [Fam.6:IV.2(F6:IV:2)]; PMID:36105815 [Fam.H67R:IV.2(H67R/9)] |
| 105225 |
F | 215671 |
61 | 7 | Definitive | Finland | Finnish | PMID:32278790 [Fam.F2:II.2(II.2)]; PMID:29403474 [Fam.2 (9):II.3(F2.II-3)]; PMID:28115215 [Fam.2:II.3(F2.II-3)]; PMID:150198 [Fam.AR:II.3(191)]; PMID:36356849 [Fam.5:II.2(F5:II:2)] |
| 105231 |
M | 215671 |
32 | 1 | Definitive | Finland | Finnish | PMID:32278790 [Fam.F2:III.2(III.2)]; PMID:29403474 [Fam.2 (9):III.2(F2.III-2)]; PMID:28115215 [Fam.2:III.2(F2.III-2)]; PMID:150198 [Fam.AR:III.2(193)]; PMID:36356849 [Fam.5:III.2(F5:III:2)] |
| 105232 |
M | 215672 |
62 | 48 | Definitive | Finland | Finnish | PMID:32278790 [Fam.F3:II.1(II.1)]; PMID:29403474 [Fam.3 (9):II.1(F3.II-1)]; PMID:28115215 [Fam.3:II.1(F3.II-1)]; PMID:150198 [Fam.AS:II.1(196)]; PMID:36356849 [Fam.3:II.1(F3:II:1)]; PMID:36892687 [II:1(II.1)]; PMID:38593810 [Fam.1:II.1(F1.II-1)] |
| 105234 |
F | 215672 |
Definitive | Finland | Finnish | PMID:32278790 [Fam.F3:I.2(I.2)]; PMID:28115215 [Fam.3:I.2(F3.I-2)]; PMID:150198 [Fam.AS:I.2(195)]; PMID:36356849 [Fam.3:I.2(F3:I:2)]; PMID:36892687 [I:2(I.2)]; PMID:38593810 [Fam.1:I.2(F1.I-2)] | ||
| 105237 |
M | 215672 |
Definitive | Finland | Finnish | PMID:32278790 [Fam.F3:II.4(II.4)]; PMID:28115215 [Fam.3:II.4(F3.II-4)]; PMID:150198 [Fam.AS:II.7(202)]; PMID:36356849 [Fam.3:II.7(F3:II:7)]; PMID:36892687 [II:4(II.4)]; PMID:38593810 [Fam.1:II.7(F1.II-4)] | ||
| 105238 |
M | 215672 |
56 | 28 | Definitive | Finland | Finnish | PMID:32278790 [Fam.F3:II.5(II.5)]; PMID:29403474 [Fam.3 (9):II.5(F3.II-5)]; PMID:28115215 [Fam.3:II.5(F3.II-5)]; PMID:150198 [Fam.AS:II.9(204)]; PMID:36356849 [Fam.3:II.9(F3:II:9)]; PMID:36892687 [II:5(II.5)]; PMID:38593810 [Fam.1:II.9(F1.II-5)] |
| 105239 |
F | 215672 |
51 | 42 | Definitive | Finland | Finnish | PMID:32278790 [Fam.F3:II.8(II.6)]; PMID:28115215 [Fam.3:II.6(F3.II-6)]; PMID:150198 [Fam.AS:II.14(209)]; PMID:36356849 [Fam.3:II.14(F3:II:14)]; PMID:36892687 [II:7(II.7)]; PMID:38593810 [Fam.1:II.13(F1.II-7)] |
| 105245 |
M | 215674 |
52 | 48 | Definitive | United Kingdom | Caucasian | PMID:32278790 [Fam.AN:II.2(II.1)]; PMID:29403474 [Fam.(12):I.1(P9.1)]; PMID:28983403 [Fam.1:I.1(P9.1)]; PMID:150198 [Fam.AT:II.1(223)] |
| 105246 |
M | 215674 |
15 | 9 | Definitive | United Kingdom | Caucasian | PMID:32278790 [Fam.AN:III.2(III.1)]; PMID:29403474 [Fam.(12):II.1(P9.2)]; PMID:28983403 [Fam.1:II.1(P9.2)]; PMID:150198 [Fam.AT:III.2(226)] |
| 105279 |
F | 215685 |
49 | 20 | Definitive | United Kingdom | European | PMID:32278790 [Fam.B:II.1(II.1)]; PMID:29477724 [Fam.B:II.1(II:1)]; PMID:150198 [Fam.AV:II.1(244)] |
| 105280 |
M | 215685 |
78 | 28 | Definitive | United Kingdom | European | PMID:32278790 [Fam.B:I.1(I.1)]; PMID:29477724 [Fam.B:I.1(I:1)]; PMID:150198 [Fam.AV:I.1(242)] |
| 105284 |
F | 215640 |
54 | Definitive | United Kingdom | European | PMID:32278790 [Fam.A:II.1(II.1)]; PMID:29477724 [Fam.A:II.1(II:1)]; PMID:150198 [Fam.AU:II.2(230)] | |
| 105287 |
F | 215640 |
52 | 49 | Definitive | United Kingdom | European | PMID:32278790 [Fam.A:II.4(II.4)]; PMID:29477724 [Fam.A:II.4(II:4)]; PMID:150198 [Fam.AU:II.5(233)] |
| 105290 |
M | 215640 |
27 | 3 | Definitive | United Kingdom | European | PMID:32278790 [Fam.A:III.2(III.2)]; PMID:29477724 [Fam.A:III.2(III:2)]; PMID:150198 [Fam.AU:III.2(235)]; PMID:32918165 [Fam.A:III.2(brother)] |
| 105294 |
F | 215640 |
26 | Definitive | United Kingdom | European | PMID:32278790 [Fam.A:III.7(III.7)]; PMID:29477724 [Fam.A:III.7(III:7)]; PMID:150198 [Fam.AU:III.7(240)] | |
| 105295 |
M | 215640 |
24 | Definitive | United Kingdom | European | PMID:32278790 [Fam.A:III.8(III.8)]; PMID:29477724 [Fam.A:III.8(III:8)]; PMID:150198 [Fam.AU:III.8(241)] | |
| 105296 |
F | 215686 |
79 | 52 | Definitive | United Kingdom | European | PMID:32278790 [Fam.C:I.2(I.2)]; PMID:29477724 [Fam.C:I.2(I:2)]; PMID:150198 [Fam.AW:I.2(246)] |
| 105301 |
M | 215686 |
45 | 16 | Definitive | United Kingdom | European | PMID:32278790 [Fam.C:II.4(II.3)]; PMID:29477724 [Fam.C:II.4(II:3)]; PMID:150198 [Fam.AW:II.3(249)] |
| 105302 |
M | 215686 |
45 | 13 | Definitive | United Kingdom | European | PMID:32278790 [Fam.C:II.5(II.5)]; PMID:29477724 [Fam.C:II.5(II:5)]; PMID:150198 [Fam.AW:II.5(251)] |
| 105304 |
F | 215686 |
18 | Definitive | United Kingdom | European | PMID:32278790 [Fam.C:III.1(III.1)]; PMID:29477724 [Fam.C:III.1(III:1)]; PMID:150198 [Fam.AW:III.1(253)] | |
| 105306 |
M | 215686 |
16 | Definitive | United Kingdom | European | PMID:32278790 [Fam.C:III.3(III.3)]; PMID:29477724 [Fam.C:III.3(III:3)]; PMID:150198 [Fam.AW:III.3(255)] | |
| 105307 |
M | 215686 |
13 | Definitive | United Kingdom | European | PMID:32278790 [Fam.C:III.4(III.4)]; PMID:29477724 [Fam.C:III.4(III:4)]; PMID:150198 [Fam.AW:III.4(256)] | |
| 105308 |
F | 215687 |
36 | 18 | Definitive | United Kingdom | European | PMID:32278790 [Fam.D:II.2(II.2)]; PMID:29477724 [Fam.D:II.2(II:2)]; PMID:150198 [Fam.AX:II.2(260)] |
| 105311 |
F | 215687 |
59 | Definitive | United Kingdom | European | PMID:32278790 [Fam.D:I.2(I.2)]; PMID:29477724 [Fam.D:I.2(I:2)]; PMID:150198 [Fam.AX:I.2(258)] | |
| 105313 |
M | 215688 |
25 | 6 | Possible | United Kingdom | European | PMID:32278790 [E.II.1]; PMID:29477724 [Fam.E:II.1(II:1)]; PMID:150198 [Fam.AY:II.2(264)]; PMID:36105815 [Fam.I281M:II.2(I281M/1)] |
| 105314 |
F | 215689 | 71 | 48 | Definitive | United Kingdom | European | PMID:32278790 [F.II.1]; PMID:29477724 [Fam.F:II.1(II:1)]; PMID:150198 [Fam.AZ:265]; PMID:36105815 [V98D] |
| 105315 |
F | 215690 | 37 | 18 | Definitive | United Kingdom | European | PMID:32278790 [G.II.1]; PMID:29477724 [Fam.G:II.1(II:1)]; PMID:150198 [Fam.BA:266]; PMID:36105815 [I87S] |
| 105316 |
U | 215691 | 44 | 24 | Definitive | United Kingdom | European | PMID:32278790 [H.II.1]; PMID:29477724 [Fam.H:II.1(II:1)]; PMID:150198 [Fam.BB:267] |
| 105317 |
M | 215692 |
48 | 35 | Definitive | United Kingdom | European | PMID:32278790 [Fam.J:III.2(III.2)]; PMID:29477724 [Fam.J:III.2(III:2)]; PMID:150198 [Fam.BD:III.2(277)] |
| 105328 |
F | 215693 |
48 | 22 | Definitive | United Kingdom | European | PMID:32278790 [Fam.L:II.1(II.1)]; PMID:29477724 [Fam.L:II.1(II:1)]; PMID:150198 [Fam.BF:II.1(283)] |
| 105332 |
U | 215694 | 32 | 24 | Definitive | United Kingdom | European | PMID:32278790 [M.II.1]; PMID:29477724 [Fam.M:II.1(II:1)]; PMID:150198 [Fam.BG:285] |
| 105333 |
F | 215695 | 58 | 56 | Definitive | European | PMID:32278790 [N.II.1]; PMID:29477724 [Fam.N:II.1(II:1)]; PMID:150198 [Fam.BH:286] | |
| 105334 |
F | 215696 | 39 | 23 | Definitive | United Kingdom | Indian | PMID:32278790 [O.II.1]; PMID:29477724 [Fam.O:II.1(II:1)]; PMID:150198 [Fam.BI:287] |
| 105335 |
U | 215697 | 56 | 43 | Definitive | United Kingdom | European | PMID:32278790 [P.II.1]; PMID:29477724 [Fam.P:II.1(II:1)]; PMID:150198 [Fam.BJ:288] |
| 105337 |
U | 215699 | 26 | 12 | Definitive | United Kingdom | European | PMID:32278790 [I.II.1]; PMID:29477724 [Fam.I:II.1(I:II-1)]; PMID:150198 [Fam.BC:268] |
| 105338 |
U | 215700 | 65 | 44 | Definitive | United Kingdom | European | PMID:32278790 [K.II.1]; PMID:29477724 [Fam.K:II.1(II:1)]; PMID:150198 [Fam.BE:280] |
| 105359 |
F | 210314 |
31 | 20 | Definitive | Germany | German | PMID:32278790 [Fam.BF:III.2(III.2)]; PMID:150198 [Fam.AO:III.1(166)]; GRID:001142 [Fam.#:III.1(FR113)] |
| 105412 |
F | 215762 |
33 | 0 | Definitive | Spain | Caucasian | PMID:32278790 [Fam.BB:I.1(I.1)]; PMID:30063981 [Fam.1:II.2(II.2)]; PMID:150198 [Fam.BM:II.3(300)] |
| 105416 |
F | 215764 |
34 | 7 | Possible | China | Chinese (China) | PMID:30363934 [case 3(I.2)]; PMID:150198 [Fam.BN:I.2(303)] |
| 105421 |
F | 215762 |
6 | Definitive | Spain | Caucasian | PMID:32278790 [Fam.BB:II.1(II.1)]; PMID:30063981 [Fam.1:III.1(III.1)]; PMID:150198 [Fam.BM:III.1(301)] | |
| 105422 |
M | 215764 |
Possible | China | Chinese (China) | PMID:30363934 [Fam.case 3:II.1(son)]; PMID:150198 [Fam.BN:II.1(304)] | ||
| 105423 |
M | 215765 |
8 | 1 | Definitive | Spain | Caucasian | PMID:150198 [Fam.BO:II.2(308)]; PMID:30761159 [Fam.1:II.2(patient)] |
| 105429 |
M | 215765 |
48 | Definitive | Spain | Caucasian | PMID:150198 [Fam.BO:I.1(305)]; PMID:30761159 [Fam.1:I.1(father)] | |
| 105431 |
M | 215765 |
12 | Definitive | Spain | Caucasian | PMID:150198 [Fam.BO:II.1(307)]; PMID:30761159 [Fam.1:II.1(sibling)] | |
| 105432 |
M | 215767 |
35 | 16 | Definitive | Germany | Caucasian | PMID:150198 [Fam.BR:II.1(316)]; PMID:31803180 [Fam.A:II.1(S1)]; PMID:34619682 [P.200] |
| 105433 |
F | 215768 |
50 | 41 | Definitive | Denmark | Danish | PMID:32278790 [AQ.I.1]; PMID:150198 [Fam.BX:II.2(359)]; PMID:32047491 [P2(I.1)]; PMID:36105815 [N323Y] |
| 105437 |
M | 215769 |
56 | 50 | Definitive | Germany | Caucasian | PMID:32278790 [Fam.AT:II.3(II.3)]; PMID:150198 [Fam.BT:III.3(329)]; PMID:31803180 [Fam.C:II.3(S5)]; PMID:34619682 [P.183] |
| 105440 |
M | 215769 |
Definitive | Germany | Caucasian | PMID:32278790 [Fam.AT:I.2(I.1)]; PMID:150198 [Fam.BT:II.1(323)]; PMID:31803180 [Fam.C:I.1(I.1)] | ||
| 105442 |
M | 215769 |
Definitive | Germany | Caucasian | PMID:32278790 [Fam.AT:I.3(I.2)]; PMID:150198 [Fam.BT:II.3(325)]; PMID:31803180 [Fam.C:I.3(I.3)] | ||
| 105444 |
M | 215769 |
50 | Definitive | Germany | Caucasian | PMID:32278790 [Fam.AT:II.4(II.4)]; PMID:150198 [Fam.BT:III.1(327)]; PMID:31803180 [Fam.C:II.1(II.1)] | |
| 105446 |
M | 215769 |
50 | 37 | Definitive | Germany | Caucasian | PMID:32278790 [Fam.AT:II.2(II.2)]; PMID:150198 [Fam.BT:III.4(330)]; PMID:31803180 [Fam.C:II.4(S6)]; PMID:34619682 [P.114] |
| 105450 |
F | 215770 |
61 | 42 | Definitive | Germany | Caucasian | PMID:32278790 [BI.I.1]; PMID:150198 [Fam.BU:II.1(337)]; PMID:31803180 [Fam.D:II.1(S7)]; PMID:34619682 [P.150] |
| 105453 |
M | 215771 |
45 | 41 | Definitive | Germany | Caucasian | PMID:32278790 [BO.I.2]; PMID:150198 [Fam.BV:II.3(342)]; PMID:31803180 [Fam.E:II.3(S8)]; PMID:36105815 [Fam.R157P:II.3(S8)] |
| 105455 |
F | 215771 |
77 | Definitive | Germany | Caucasian | PMID:150198 [Fam.BV:I.2(339)]; PMID:31803180 [Fam.E:I.2(I.2)]; PMID:36105815 [Fam.R157P:I.2(mother)] | |
| 105458 |
M | 215771 |
42 | 37 | Definitive | Germany | Caucasian | PMID:32278790 [BO.I.1]; PMID:150198 [Fam.BV:II.5(344)]; PMID:31803180 [Fam.E:II.4(S9)]; PMID:36105815 [Fam.R157P:II.5(S9)]; PMID:34619682 [P.210] |
| 105462 |
F | 215767 |
Definitive | Germany | Caucasian | PMID:150198 [Fam.BR:I.2(315)]; PMID:31803180 [Fam.A:I.2(I.2)] | ||
| 105463 |
M | 215772 |
61 | 35 | Definitive | Germany | Russian | PMID:32278790 [AO.I.1]; PMID:150198 [Fam.BS:I.1(317)]; PMID:31803180 [Fam.B:I.1(S2)]; PMID:34619682 [P.122] |
| 105465 |
M | 215772 |
32 | Definitive | Germany | Russian | PMID:150198 [Fam.BS:II.1(319)]; PMID:31803180 [Fam.B:II.1(S3)] | |
| 105466 |
M | 215772 |
23 | Definitive | Germany | Russian | PMID:150198 [Fam.BS:II.2(320)]; PMID:31803180 [Fam.B:II.2(S4)] | |
| 105470 |
M | 215774 | 11 | 1 | Disputed | Iran | Iranian | PMID:150198 [Fam.BP:309]; PMID:31117086 [P35] |
| 105471 |
M | 215775 |
2 | 2 | Definitive | Canada | Filipino | PMID:150198 [Fam.BQ:II.2(313)]; GRID:001021 [Fam.1:II.2(patient)]; PMID:36105815 [I142T] |
| 105521 |
U | 215647 |
Definitive | U.S.A. | North American | PMID:27379089 [Fam.1:II.2]; PMID:150198 [Fam.AG:II.2(136)] | ||
| 105523 |
U | 215647 |
Definitive | U.S.A. | North American | PMID:27379089 [Fam.1:III.2]; PMID:150198 [Fam.AG:III.2(140)] | ||
| 105524 |
U | 215647 |
Definitive | U.S.A. | North American | PMID:27379089 [Fam.1:II.3]; PMID:150198 [Fam.AG:II.3(137)] | ||
| 105526 |
M | 215647 |
Definitive | U.S.A. | North American | PMID:27379089 [Fam.1:III.3]; PMID:32278790 [Fam.BA:II.3(II.3)]; PMID:150198 [Fam.AG:III.3(141)] | ||
| 105649 |
F | 215834 |
Definitive | Spain | Spanish | PMID:29867916 [N234]; PMID:32278790 [Fam.AV:II.1(II.1)]; PMID:150198 [Fam.BL:II.1(294)] | ||
| 105666 |
M | 215672 |
Definitive | Finland | Finnish | PMID:32278790 [Fam.F3:III.2(III.2)]; PMID:150198 [Fam.AS:III.8(217)]; PMID:36356849 [Fam.3:III.8(F3:III:8)]; PMID:36892687 [III:2(III.2)]; PMID:38593810 [Fam.1:III.8(F1.III-8)] | ||
| 105667 |
M | 215672 |
Definitive | Finland | Finnish | PMID:32278790 [Fam.F3:III.3(III.3)]; PMID:150198 [Fam.AS:III.11(220)]; PMID:36356849 [Fam.3:III.11(F3:III:11)]; PMID:36892687 [III:3(III.3)]; PMID:38593810 [Fam.1:III.11(F1.III-11)] | ||
| 105669 |
F | 215622 |
Definitive | Australia | Dutch | PMID:32278790 [Fam.NA:V.8(V.8)]; PMID:150198 [Fam.AA:V.8(083)] | ||
| 105671 |
M | 215837 |
6 | 1 | Definitive | Spanish | PMID:32278790 [Fam.AF:II.1(II.1)]; PMID:150198 [Fam.BY:II.1(363)] | |
| 105673 |
M | 215837 |
Definitive | Spanish | PMID:32278790 [Fam.AF:I.2(I.2)]; PMID:150198 [Fam.BY:I.1(361)] | |||
| 105674 |
M | 215837 |
Definitive | Spanish | PMID:32278790 [Fam.AF:II.2(II.2)]; PMID:150198 [Fam.BY:II.2(364)] | |||
| 105676 |
M | 215838 |
25 | 14 | Definitive | Ecuadorian | PMID:32278790 [Fam.AS:II.1(II.1)]; PMID:150198 [Fam.CB:II.1(402)] | |
| 105677 |
F | 215838 |
57 | Definitive | Ecuadorian | PMID:32278790 [Fam.AS:I.1(I.1)]; PMID:150198 [Fam.CB:I.2(401)] | ||
| 105679 |
M | 215839 |
36 | 2 | Definitive | Canada | Caucasian | PMID:32278790 [Fam.BH:II.2(II.2)]; PMID:150198 [Fam.CD:II.1(409)] |
| 105684 |
F | 215839 |
9 | Definitive | Canada | Caucasian | PMID:32278790 [Fam.BH:III.1(III.1)]; PMID:150198 [Fam.CD:III.1(412)] | |
| 105685 |
F | 215839 |
6 | Definitive | Canada | Caucasian | PMID:32278790 [Fam.BH:III.2(III.2)]; PMID:150198 [Fam.CD:III.2(413)] | |
| 105686 |
F | 215839 |
3 | Definitive | Canada | Caucasian | PMID:32278790 [Fam.BH:III.3(III.3)]; PMID:150198 [Fam.CD:III.3(414)] | |
| 105687 |
F | 215840 |
36 | 18 | Definitive | U.S.A. | Caucasian | PMID:32278790 [Fam.BL:I.1(I.1)]; PMID:150198 [Fam.CE:I.2(416)]; PMID:36105815 [Fam.H67Y:I.2(H67Y/1)] |
| 105690 |
F | 215840 |
9 | 6 | Definitive | U.S.A. | Caucasian | PMID:32278790 [Fam.BL:II.1(II.1)]; PMID:150198 [Fam.CE:II.1(417)]; PMID:36105815 [Fam.H67Y:II.1(H67Y/2)] |
| 105691 |
M | 215841 |
49 | 12 | Definitive | Australia | Australian | PMID:32278790 [Fam.W:I.1(W.I.1)]; PMID:150198 [Fam.CF:I.1(418)] |
| 105693 |
F | 215841 |
18 | 16 | Definitive | Australia | Australian | PMID:32278790 [Fam.W:II.1(W.II.1)]; PMID:150198 [Fam.CF:II.1(420)] |
| 105694 |
F | 215842 |
38 | 6 | Definitive | Germany | German | PMID:32278790 [Fam.Y:II.1(Y.II.1)]; PMID:150198 [Fam.CG:II.1(423)] |
| 105699 |
F | 211370 |
41 | Definitive | Germany | Turkish | PMID:32278790 [Fam.AJ:II.2(II.2)]; PMID:150198 [Fam.BZ:II.2(368)]; GRID:001142 [Fam.*:II.2(FR098)] | |
| 105702 |
F | 211370 |
47 | Definitive | Germany | Turkish | PMID:32278790 [Fam.AJ:II.5(II.5)]; PMID:150198 [Fam.BZ:II.6(372)]; GRID:001142 [Fam.+:II.6(FR101)] | |
| 105712 |
M | 211370 |
40 | Definitive | Germany | Turkish | PMID:32278790 [Fam.AJ:II.12(II.12)]; PMID:150198 [Fam.BZ:II.12(378)] | |
| 105714 |
M | 211370 |
9 | 11 | Definitive | Germany | Turkish | PMID:32278790 [Fam.AJ:III.1(III.1)]; PMID:150198 [Fam.BZ:III.1(380)]; GRID:001142 [Fam.*:III.1(FR095)] |
| 105715 |
F | 211370 |
21 | Definitive | Germany | Turkish | PMID:32278790 [Fam.AJ:III.3(III.3)]; PMID:150198 [Fam.BZ:III.3(382)]; GRID:001142 [Fam.*:III.3(FR097.2)] | |
| 105719 |
F | 211370 |
22 | Definitive | Germany | Turkish | PMID:32278790 [Fam.AJ:III.7(III.7)]; PMID:150198 [Fam.BZ:III.7(386)]; GRID:001142 [Fam.+:III.7(FR103)] | |
| 105721 |
F | 211370 |
15 | Definitive | Germany | Turkish | PMID:32278790 [Fam.AJ:III.9(III.9)]; PMID:150198 [Fam.BZ:III.9(388)]; GRID:001142 [Fam.+:III.9(FR100)] | |
| 105722 |
M | 211370 |
23 | Definitive | Germany | Turkish | PMID:32278790 [Fam.AJ:III.10(III.10)]; PMID:150198 [Fam.BZ:III.10(389)]; GRID:001142 [Fam.+:III.10(FR102)] | |
| 105731 |
F | 215843 | 16 | 1 | Definitive | Russia | Russian | PMID:32278790 [Q.I.1]; PMID:150198 [Fam.CH:424] |
| 105740 |
U | 215845 | Definitive | Germany | PMID:32278790 [R.I.1]; PMID:150198 [Fam.CI:425] | |||
| 105741 |
F | 215846 | 14 | 11 | Definitive | United Kingdom | Indian | PMID:32278790 [T.I.1]; PMID:150198 [Fam.CJ:426] |
| 105742 |
F | 215847 | 29 | 16 | Definitive | Brazil | Brasilian | PMID:32278790 [AD.I.1]; PMID:150198 [Fam.CL:428] |
| 105743 |
F | 215848 |
0 | 0 | Definitive | Germany | Caucasian | PMID:32278790 [AE.I.1]; PMID:150198 [Fam.CM:II.2(432)]; PMID:38593810 [Fam.4:II.2(F4.II-2)] |
| 105744 |
M | 215849 | 7 | 7 | Possible | Germany | PMID:32278790 [AG.I.1]; PMID:150198 [Fam.CN:433] | |
| 105745 |
M | 215850 | 9 | 2 | Unclear | Czech Republic | PMID:32278790 [AI.I.1]; PMID:150198 [Fam.CO:434] | |
| 105747 |
F | 215852 |
5 | 2 | Definitive | Netherlands | Dutch | PMID:32278790 [Fam.AM:II.1(II.1)]; PMID:150198 [Fam.CA:II.1(399)] |
| 105748 |
M | 215852 |
50 | 18 | Definitive | Netherlands | Dutch | PMID:32278790 [Fam.AM:I.1(I.1)]; PMID:150198 [Fam.CA:I.1(397)] |
| 105750 |
M | 215853 | 18 | 15 | Definitive | U.S.A. | North American | PMID:32278790 [AP.I.1]; PMID:150198 [Fam.CQ:436] |
| 105751 |
M | 215854 | 30 | 3 | Definitive | Germany | PMID:32278790 [AW.I.1]; PMID:150198 [Fam.CR:437] | |
| 105752 |
M | 215855 | 10 | 2 | Definitive | Russia | Russian | PMID:32278790 [AX.I.1]; PMID:150198 [Fam.CS:438] |
| 105753 |
F | 215856 | 70 | 57 | Definitive | Germany | German | PMID:32278790 [AY.I.1]; PMID:150198 [Fam.CT:439] |
| 105754 |
F | 215857 | 38 | 26 | Definitive | Iran | Asian | PMID:32278790 [AZ.I.1]; PMID:150198 [Fam.CU:440] |
| 105755 |
F | 215858 | 2 | 1 | Definitive | Russia | Russian | PMID:32278790 [BC.I.1]; PMID:150198 [Fam.CV:441] |
| 105756 |
F | 215859 | 13 | 10 | Definitive | Portugal | Portuguese | PMID:32278790 [BD.I.1]; PMID:150198 [Fam.CW:442] |
| 105757 |
F | 215860 | 13 | 8 | Definitive | U.S.A. | North American | PMID:32278790 [BJ.I.1]; PMID:150198 [Fam.CX:443] |
| 105758 |
M | 215861 | 12 | 3 | Disputed | Iran | Iranian | PMID:32278790 [BM.I.1]; PMID:150198 [Fam.CY:444]; PMID:36105815 [BM.I.1] |
| 105762 |
F | 215863 | 28 | 14 | Disputed | Iran | Iranian | PMID:32278790 [BP.I.1]; PMID:150198 [Fam.DA:446] |
| 105763 |
F | 215864 |
Disputed | PMID:32278790 [Fam.BQ:I.1(I.1)]; PMID:150198 [Fam.DB:I.2(448)]; PMID:36105815 [Fam.D186Y:I.1(D186Y/1)] | ||||
| 105764 |
F | 215864 |
Disputed | PMID:32278790 [Fam.BQ:II.1(II.1)]; PMID:150198 [Fam.DB:II.1(449)]; PMID:36105815 [Fam.D186Y:II.1(D186Y/2)] | ||||
| 105767 |
M | 211008 |
60 | Possible | Germany | Caucasian | PMID:32278790 [Fam.BS:I.1(I.1)]; PMID:150198 [Fam.DD:I.1(455)]; PMID:36105815 [Fam.M216V:I.1(M216V/2)] | |
| 105769 |
F | 210925 |
Disputed | Germany | Turkish | PMID:32278790 [Fam.BT:I.1(I.1)]; PMID:150198 [Fam.DE:I.2(459)]; PMID:36105815 [Fam.R230K:I.1(R230K/1)] | ||
| 105771 |
F | 210925 |
7 | Disputed | Germany | Turkish | PMID:32278790 [Fam.BT:II.2(II.3)]; PMID:150198 [Fam.DE:II.2(461)]; PMID:36105815 [Fam.R230K:II.2(R230K/3)] | |
| 105772 |
F | 210925 |
5 | Disputed | Germany | Turkish | PMID:32278790 [Fam.BT:II.3(II.2)]; PMID:150198 [Fam.DE:II.3(462)]; PMID:36105815 [Fam.R230K:II.3(R230K/4)] | |
| 105773 |
M | 215866 | 67 | 61 | Possible | Germany | German | PMID:32278790 [BU.I.1]; PMID:150198 [Fam.DF:463]; PMID:36105815 [A245V] |
| 105774 |
F | 215867 | 57 | 15 | Disputed | Germany | German | PMID:32278790 [BV.I.1]; PMID:150198 [Fam.DG:464]; PMID:36105815 [P246T] |
| 105775 |
F | 215868 | 43 | 25 | Definitive | Germany | German | PMID:32278790 [BX.I.1]; PMID:150198 [Fam.DI:466]; PMID:36105815 [Y286N] |
| 105776 |
M | 215869 | 18 | 2 | Refuted | Iran | Iranian | PMID:32278790 [BZ.I.1]; PMID:150198 [Fam.DK:468]; PMID:36105815 [Fam.K326N/BZ:K326N/1] |
| 105777 |
M | 215870 | 13 | 1 | Refuted | Iran | Iranian | PMID:32278790 [CA.I.1]; PMID:150198 [Fam.DL:469]; PMID:36105815 [Fam.K326N/CA:K326N/2] |
| 105778 |
F | 215871 |
8 | 3 | Disputed | Spain | Spanish | PMID:32278790 [CB.I.1]; PMID:150198 [Fam.DM:II.1(472)]; PMID:36105815 [Fam.G386R:II.1(G386R/1)] |
| 105779 |
F | 215872 | 59 | 47 | Unclear | Turkey | Turkish | PMID:32278790 [CC.I.1]; PMID:150198 [Fam.DN:474] |
| 105780 |
F | 215873 | 43 | 17 | Disputed | Germany | German | PMID:32278790 [CD.I.1]; PMID:150198 [Fam.DO:475] |
| 105781 |
F | 215874 | 11 | Disputed | U.S.A. | PMID:32278790 [CE.I.1]; PMID:150198 [Fam.DP:476] | ||
| 105782 |
M | 215875 | 5 | Unclear | PMID:32278790 [CF.I.1]; PMID:150198 [Fam.DQ:477] | |||
| 105783 |
F | 215876 |
50 | 12 | Possible | U.S.A. | Caucasian | PMID:150198 [Fam.DR:III.1(483)]; PMID:32972988 [Fam.1:II.1(Index)] |
| 105805 |
F | 215881 |
Definitive | Canada | Pakistani | PMID:32980423 [Fam.1:II.2(1.II.2)]; PMID:150198 [Fam.DS:II.2(489)] | ||
| 105811 |
F | 215881 |
Definitive | Canada | Pakistani | PMID:32980423 [Fam.1:III.2(1.III.2)]; PMID:150198 [Fam.DS:III.2(495)] | ||
| 105817 |
M | 215881 |
34 | Definitive | Canada | Pakistani | PMID:32980423 [Fam.1:IV.1(1.IV.1)]; PMID:150198 [Fam.DS:IV.1(501)] | |
| 105818 |
F | 215881 |
37 | Definitive | Canada | Pakistani | PMID:32980423 [Fam.1:IV.2(1.IV.2)]; PMID:150198 [Fam.DS:IV.2(502)] | |
| 105824 |
M | 215834 |
45 | 18 | Definitive | Spain | Spanish | PMID:32278790 [Fam.AV:I.2(I.2)]; PMID:150198 [Fam.BL:I.1(292)] |
| 105825 |
M | 215834 |
8 | Definitive | Spain | Spanish | PMID:32278790 [Fam.AV:II.2(II.2)]; PMID:150198 [Fam.BL:II.2(295)] | |
| 105859 |
F | 215894 |
51 | 18 | Definitive | United Kingdom | British | PMID:150198 [Fam.EA:I.2(551)]; PMID:150198 [Fam.EA:I.2(551)]; PMID:34922003 [Fam.A:I.2(A1)]; PMID:34922003 [Fam.A:I.2(A1)] |
| 105862 |
F | 215894 |
22 | 1 | Definitive | United Kingdom | British | PMID:150198 [Fam.EA:II.3(554)]; PMID:150198 [Fam.EA:II.3(554)]; PMID:34922003 [Fam.A:II.3(A2)]; PMID:34922003 [Fam.A:II.3(A2)] |
| 105864 |
F | 215894 |
21 | 5 | Definitive | United Kingdom | British | PMID:150198 [Fam.EA:II.4(555)]; PMID:34922003 [Fam.A:II.4(A3)] |
| 105871 |
M | 215895 | 0 | Unclear | U.S.A. | PMID:33864888 [S024]; PMID:150198 [Fam.DU:517] | ||
| 105881 |
M | 211221 |
Definitive | Germany | German | PMID:33995346 [Fam.A:II.4]; PMID:150198 [Fam.DV:II.4(523)] | ||
| 105894 |
F | 215900 |
43 | 34 | Possible | U.S.A. | North American | PMID:150198 [Fam.DW:I.2(537)]; PMID:34307247 [Fam.1:I.2(mother)] |
| 105898 |
F | 215901 |
24 | Possible | U.S.A. | PMID:150198 [Fam.DY:II.1(544)]; PMID:34825039 [Fam.1:II.1(index)] | ||
| 105899 |
F | 215900 |
8 | 4 | Possible | U.S.A. | North American | PMID:150198 [Fam.DW:II.1(538)]; PMID:34307247 [Fam.1:II.1(daughter1)]; PMID:28802957 [Fam.1:II.1(II.1)] |
| 105900 |
M | 215901 |
Possible | U.S.A. | PMID:150198 [Fam.DY:I.1(542)]; PMID:34825039 [Fam.1:I.1(father)] | |||
| 105917 |
M | 215907 | 41 | Disputed | Germany | PMID:32278790 [BW.I.1]; PMID:150198 [Fam.DH:465] | ||
| 105935 |
F | 215911 |
20 | 14 | Definitive | United Kingdom | PMID:150198 [Fam.EB:II.1(559)]; PMID:34922003 [Fam.D:II.1(D1)] | |
| 105946 |
M | 215913 |
23 | 10 | Unclear | Germany | Caucasian | PMID:150198 [Fam.EC:II.1(562)]; PMID:36105815 [Fam.R231C:II.1(R231C/2)]; PMID:35003082 [Fam.1:II.1(P2/S.2)]; PMID:34619682 [P.232] |
| 105947 |
M | 215913 |
47 | Unclear | Germany | Caucasian | PMID:150198 [Fam.EC:I.1(560)]; PMID:36105815 [Fam.R231C:I.1(R231C/1)]; PMID:35003082 [Fam.1:I.1(P1/S.1)] | |
| 105949 |
M | 215913 |
21 | 17 | Unclear | Germany | Caucasian | PMID:150198 [Fam.EC:II.2(563)]; PMID:36105815 [Fam.R231C:II.2(R231C/3)]; PMID:35003082 [Fam.1:II.2(P3/S.3)]; PMID:34619682 [P.233] |
| 105986 |
F | 215921 |
47 | Definitive | Belgium | PMID:150198 [Fam.FG:II.2(630)]; PMID:36203612 [Fam.1:II.2(1.II.1)] | ||
| 105990 |
F | 215921 |
18 | Definitive | Belgium | PMID:150198 [Fam.FG:III.1(631)]; PMID:36203612 [Fam.1:III.1(1.III.1)] | ||
| 105991 |
M | 215922 |
56 | 55 | Definitive | Belgium | PMID:150198 [Fam.FH:II.1(634)]; PMID:36203612 [Fam.2:II.2(2.II.1)] | |
| 105995 |
M | 215922 |
65 | Definitive | Belgium | PMID:150198 [Fam.FH:II.3(636)]; PMID:36203612 [Fam.2:II.3(2.II.2)] | ||
| 105997 |
M | 215922 |
60 | Definitive | Belgium | PMID:150198 [Fam.FH:II.5(638)]; PMID:36203612 [Fam.2:II.5(2.II.3)] | ||
| 105999 |
F | 215922 |
27 | 25 | Definitive | Belgium | PMID:150198 [Fam.FH:III.1(640)]; PMID:36203612 [Fam.2:III.1(2.III.1)] | |
| 106000 |
M | 215922 |
20 | 32 | Definitive | Belgium | PMID:150198 [Fam.FH:III.2(641)]; PMID:36203612 [Fam.2:III.2(2.III.2)] | |
| 106001 |
M | 215922 |
Definitive | Belgium | PMID:150198 [Fam.FH:III.3(642)]; PMID:36203612 [Fam.2:III.3(2.III.3)] | |||
| 106106 |
F | 215951 |
10 | 1 | Refuted | Iran | Iranian | PMID:150198 [Fam.FF:II.1(626)]; PMID:36113674 [P5(II.1)] |
| 106109 |
M | 215952 |
10 | 4 | Possible | Iran | Iranian | PMID:150198 [Fam.EG:III.4(584)]; PMID:35392793 [Fam.1:III.4(III-1(index))] |
| 106119 |
F | 215952 |
39 | Possible | Iran | Iranian | PMID:150198 [Fam.EG:II.6(576)]; PMID:35392793 [Fam.1:II.6(II-2(mother))] | |
| 106172 |
F | 215971 | 50 | 37 | Possible | Germany | German | PMID:150198 [Fam.FI:660]; GRID:001142 [FR302] |
| 106173 |
M | 215972 | 55 | Possible | Germany | PMID:150198 [Fam.FJ:661]; PMID:34619682 [P.254] | ||
| 106174 |
F | 215973 |
Definitive | Taiwan | Taiwanese | PMID:150198 [Fam.FP:II.2(723)]; PMID:36586539 [SI124(II.2)] | ||
| 106175 |
M | 215973 |
Definitive | Taiwan | Taiwanese | PMID:150198 [Fam.FP:I.1(720)]; PMID:36586539 [Fam.SI124:I.1(father)] | ||
| 106178 |
M | 215974 |
68 | 7 | Definitive | Finland | Finnish | PMID:150198 [Fam.FL:III.2(672)]; PMID:36356849 [Fam.1:III.2(F1:III:2)]; PMID:38593810 [Fam.2:II.2(F2.II-1)] |
| 106184 |
F | 215974 |
Definitive | Finland | Finnish | PMID:150198 [Fam.FL:II.4(668)]; PMID:36356849 [Fam.1:II.4(F1:II:4)]; PMID:38593810 [Fam.2:I.2] | ||
| 106186 |
F | 215974 |
Definitive | Finland | Finnish | PMID:150198 [Fam.FL:II.6(670)]; PMID:36356849 [Fam.1:II.6(F1:II:6)] | ||
| 106189 |
F | 215974 |
Definitive | Finland | Finnish | PMID:150198 [Fam.FL:III.4(674)]; PMID:36356849 [Fam.1:III.4(F1:III:4)]; PMID:38593810 [Fam.2:II.3(F2.II-2)] | ||
| 106193 |
M | 215974 |
Definitive | Finland | Finnish | PMID:150198 [Fam.FL:III.8(678)]; PMID:36356849 [Fam.1:III.8(F1:III:8)] | ||
| 106198 |
M | 215974 |
39 | Definitive | Finland | Finnish | PMID:150198 [Fam.FL:IV.3(683)]; PMID:36356849 [Fam.1:IV.3(F1:IV:3)] | |
| 106199 |
M | 215974 |
Definitive | Finland | Finnish | PMID:150198 [Fam.FL:IV.4(684)]; PMID:36356849 [Fam.1:IV.4(F1:IV:4)] | ||
| 106200 |
F | 215975 |
71 | 25 | Definitive | Finland | Finnish | PMID:150198 [Fam.FM:III.2(693)]; PMID:36356849 [Fam.2:III.2(F2:III:2)] |
| 106204 |
F | 215975 |
Definitive | Finland | Finnish | PMID:150198 [Fam.FM:II.2(688)]; PMID:36356849 [Fam.2:II.2(F2:II:2)] | ||
| 106207 |
F | 215975 |
Definitive | Finland | Finnish | PMID:150198 [Fam.FM:II.5(691)]; PMID:36356849 [Fam.2:II.5(F2:II:5)] | ||
| 106209 |
F | 215975 |
73 | 22 | Definitive | Finland | Finnish | PMID:150198 [Fam.FM:III.3(694)]; PMID:36356849 [Fam.2:III.3(F2:III:3)] |
| 106212 |
F | 215975 |
Definitive | Finland | Finnish | PMID:150198 [Fam.FM:III.6(697)]; PMID:36356849 [Fam.2:III.6(F2:III:6)] | ||
| 106213 |
F | 215975 |
Definitive | Finland | Finnish | PMID:150198 [Fam.FM:III.7(698)]; PMID:36356849 [Fam.2:III.7(F2:III:7)] | ||
| 106216 |
F | 215975 |
43 | 18 | Definitive | Finland | Finnish | PMID:150198 [Fam.FM:IV.2(701)]; PMID:36356849 [Fam.2:IV.2(F2:IV:2)] |
| 106217 |
M | 215975 |
38 | 27 | Definitive | Finland | Finnish | PMID:150198 [Fam.FM:IV.3(702)]; PMID:36356849 [Fam.2:IV.3(F2:IV:3)] |
| 106219 |
M | 215975 |
Definitive | Finland | Finnish | PMID:150198 [Fam.FM:IV.5(704)]; PMID:36356849 [Fam.2:IV.5(F2:IV:5)] | ||
| 106220 |
F | 215975 |
Definitive | Finland | Finnish | PMID:150198 [Fam.FM:IV.6(705)]; PMID:36356849 [Fam.2:IV.6(F2:IV:6)] | ||
| 106221 |
M | 215975 |
Definitive | Finland | Finnish | PMID:150198 [Fam.FM:IV.7(706)]; PMID:36356849 [Fam.2:IV.7(F2:IV:7)] | ||
| 106222 |
F | 215975 |
55 | 52 | Definitive | Finland | Finnish | PMID:150198 [Fam.FM:IV.8(707)]; PMID:36356849 [Fam.2:IV.8(F2:IV:8)] |
| 106223 |
M | 215976 |
48 | 7 | Definitive | Finland | Finnish | PMID:150198 [Fam.FN:II.1(710)]; PMID:36356849 [Fam.4:II.1(F4:II:1)]; PMID:38593810 [Fam.3:II.1(F3.II-1)] |
| 106263 |
M | 215978 |
14 | 2 | Definitive | Argentina | European/American | PMID:150198 [Fam.FY:II.3(786)]; PMID:38593810 [Fam.5:II.3(F5.II-3)] |
| 106266 |
F | 215978 |
Argentina | European/American | PMID:150198 [Fam.FY:I.2(783)]; PMID:38593810 [Fam.5:I.2(F5.I-2)] | |||
| 106282 |
M | 215979 |
30 | 28 | Definitive | United Kingdom | Caucasian | PMID:150198 [Fam.FZ:III.1(792)]; PMID:38593810 [Fam.6:II.1(F6.II-1)] |
| 106304 |
M | 215981 |
54 | 50 | Definitive | China | Chinese (China) | PMID:150198 [Fam.FO:II.5(717)]; PMID:36571238 [Fam.1:II.5(II:5[P1])] |
| 106312 |
M | 215981 |
29 | Definitive | China | Chinese (China) | PMID:150198 [Fam.FO:III.1(719)]; PMID:36571238 [Fam.1:III.1(III:1[P2])] | |
| 106315 |
F | 215771 |
15 | 2 | Definitive | Germany | Caucasian | PMID:150198 [Fam.BV:III.1(346)]; PMID:36105815 [Fam.R157P:III.1(S8's daugther)] |
| 106320 |
M | 215984 | 19 | 0 | Disputed | PMID:150198 [Fam.EX:608]; PMID:36105815 [L196V] | ||
| 106323 |
M | 215985 |
19 | 0 | Definitive | PMID:150198 [Fam.EZ:II.1(612)]; PMID:36105815 [Fam.R284P:II.1(R284P/1)] | ||
| 106324 |
M | 215985 |
Definitive | PMID:150198 [Fam.EZ:I.1(610)]; PMID:36105815 [Fam.R284P:I.1(R284P/2)] | ||||
| 106326 |
F | 215986 | 20 | Disputed | PMID:150198 [Fam.FE:623]; PMID:36105815 [Y405C] | |||
| 106327 |
M | 215987 |
18 | 6 | Definitive | Italy | Italian | PMID:150198 [Fam.FR:III.1(734)]; PMID:37600787 [Fam.1:III.1(index)] |
| 106330 |
F | 215987 |
Definitive | Italy | Italian | PMID:150198 [Fam.FR:II.2(733)]; PMID:37600787 [Fam.1:II.2(mother)] | ||
| 106336 |
F | 215989 | 45 | Disputed | China | Chinese (China) | PMID:150198 [Fam.GD:799]; PMID:36105815 [G430E]; PMID:29484114 [G430E] | |
| 106337 |
U | 215990 | Disputed | India | Indian | PMID:150198 [Fam.GC:798]; PMID:36105815 [L140Q]; PMID:27510021 [L140Q] | ||
| 106342 |
F | 215992 | 12 | 8 | Definitive | Belarus | Russian | PMID:150198 [Fam.EV:606]; PMID:36105815 [G92V] |
| 106343 |
M | 215993 |
58 | 27 | Definitive | U.S.A. | PMID:150198 [Fam.EU:I.1(603)]; PMID:36105815 [Fam.H67R-2:I.1(H67R/10)] | |
| 106346 |
F | 215993 |
22 | 5 | Definitive | U.S.A. | PMID:150198 [Fam.EU:II.1(605)]; PMID:36105815 [Fam.H67R-2:II.1(H67R/11)] | |
| 106347 |
M | 215994 | 40 | 7 | Disputed | PMID:150198 [Fam.EY:609]; PMID:36105815 [R198C] | ||
| 106403 |
M | 210197 |
62 | Possible | Germany | Italian | PMID:150198 [Fam.DZ:I.1(545)] | |
| 106405 |
F | 210197 |
26 | 18 | Possible | Germany | Italian | PMID:150198 [Fam.DZ:II.3(549)] |
| 106406 |
M | 216007 | 32 | 10 | Definitive | Australia | PMID:150198 [Fam.FK:662]; PMID:35242131 [P1] | |
| 106409 |
M | 216010 |
42 | 27 | Definitive | China | Chinese (China) | PMID:150198 [Fam.FT:II.2(741)]; PMID:37775675 [Fam.1:II.2(patient)] |
| 106422 |
F | 216014 | 66 | 46 | Definitive | China | PMID:150198 [Fam.DX:541]; PMID:34447408 [1(I.1)] | |
| 106423 |
F | 216015 |
11 | 8 | Definitive | Saudi Arabia | PMID:150198 [Fam.FU:III.4(765)]; PMID:38130541 [Fam.1:III.4(P1)] | |
| 106436 |
M | 216015 |
Definitive | Saudi Arabia | PMID:150198 [Fam.FU:II.9(754)]; PMID:38130541 [Fam.1:II.9(dad)] | |||
| 106445 |
M | 216015 |
21 | 18 | Definitive | Saudi Arabia | PMID:150198 [Fam.FU:III.2(763)]; PMID:38130541 [Fam.1:III.2(P2)] | |
| 106456 |
F | 216020 |
16 | 1 | Disputed | China | Chinese (China) | PMID:150198 [Fam.FS:II.1(737)]; PMID:37705523 [Fam.1:II.1(index)] |
| 106458 |
F | 216020 |
Disputed | China | Chinese (China) | PMID:150198 [Fam.FS:I.2(736)]; PMID:37705523 [Fam.1:I.2(mother)] | ||
| 106459 |
M | 216021 |
22 | Possible | U.S.A. | PMID:150198 [Fam.FV:II.1(769)]; GRID:001217 [1(II.1)]; PMID:37895204 [proband] | ||
| 106463 |
F | 216023 |
29 | Possible | Japan | Japanese | PMID:150198 [Fam.FX:II.3(779)]; PMID:38514645 [Fam.1:II.3(proband)] | |
| 106466 |
F | 216023 |
54 | 52 | Possible | Japan | Japanese | PMID:150198 [Fam.FX:I.2(776)]; PMID:38514645 [Fam.1:I.2(I:2)] |
| 106470 |
F | 216023 |
3 | Possible | Japan | Japanese | PMID:150198 [Fam.FX:III.1(781)]; PMID:38514645 [Fam.1:III.1(III:1)] | |
| 106668 |
M | 216102 | 47 | 24 | Possible | Spain | PMID:150198 [Fam.ED:564]; PMID:35281075 [4] | |
| 106669 |
M | 216103 | 58 | 25 | Unclear | Spain | PMID:150198 [Fam.EE:565]; PMID:35281075 [5] | |
| 106670 |
F | 216104 | 49 | 30 | Unclear | Spain | PMID:150198 [Fam.EF:566]; PMID:35281075 [7] | |
| 106675 |
M | 216105 | 18 | 0 | Disputed | Egypt | Egyptian | PMID:150198 [Fam.EH:585]; PMID:35482138 [Fam.139:158] |
| 106676 |
F | 216106 |
68 | 68 | Definitive | Belgium | Dutch | PMID:150198 [Fam.ET:I.2(598)]; PMID:36105815 [Fam.G64V:I.2(G64V/1)] |
| 106679 |
F | 216106 |
40 | 34 | Definitive | Belgium | Dutch | PMID:150198 [Fam.ET:II.2(600)]; PMID:36105815 [Fam.G64V:II.2(G64V/2)] |
| 106680 |
M | 216106 |
13 | Definitive | Belgium | Dutch | PMID:150198 [Fam.ET:III.1(601)]; PMID:36105815 [Fam.G64V:III.1(G64V/3)] | |
| 106683 |
M | 216107 | 43 | 25 | Unclear | Germany | German | PMID:150198 [Fam.EW:607]; PMID:36105815 [N103D] |
| 106684 |
F | 216108 | 71 | Refuted | Germany | Asian | PMID:150198 [Fam.GF:801]; PMID:36105815 [G136S] | |
| 106685 |
M | 211089 |
74 | Possible | Germany | German | PMID:150198 [Fam.DC:I.1(450)]; PMID:36105815 [Fam.R214Q:I.1(R214Q/2)] | |
| 106687 |
M | 211089 |
51 | Possible | Germany | German | PMID:150198 [Fam.DC:II.1(452)]; PMID:150198 [Fam.DC:II.1(452)]; PMID:36105815 [Fam.R214Q:II.1(R214Q/3)]; PMID:36105815 [Fam.R214Q:II.1(R214Q/3)] | |
| 106690 |
M | 216109 |
28 | Disputed | PMID:150198 [Fam.FA:II.1(615)]; PMID:36105815 [S372L(II.1)] | |||
| 106693 |
M | 216109 |
29 | Disputed | PMID:150198 [Fam.FA:II.2(616)]; PMID:36105815 [Fam.S372L:II.2(brother)] | |||
| 106694 |
M | 211475 |
83 | Refuted | Germany | PMID:150198 [Fam.FB:I.1(617)]; PMID:36105815 [Fam.G376S:I.1(father)] | ||
| 106696 |
M | 211475 |
52 | Refuted | Germany | PMID:150198 [Fam.FB:II.2(620)]; PMID:36105815 [Fam.G376S:II.2(son)] | ||
| 106698 |
M | 216111 | 28 | Disputed | PMID:150198 [Fam.FC:621]; PMID:36105815 [A383S] | |||
| 106699 |
M | 216112 | Disputed | PMID:150198 [Fam.FD:622]; PMID:36105815 [G393S] | ||||
| 106712 |
M | 215871 |
Disputed | Spain | Spanish | PMID:150198 [Fam.DM:I.1(470)]; PMID:36105815 [Fam.G386R:I.1(G386R/2)] | ||
| 106714 |
M | 215871 |
12 | 5 | Disputed | Spain | Spanish | PMID:150198 [Fam.DM:II.2(473)]; PMID:36105815 [Fam.G386R:II.2(G386R/4)] |
| 106833 |
F | 216165 |
35 | Definitive | China | Chinese (China) | PMID:150198 [Fam.FQ:II.3(728)]; PMID:37099456 [Fam.10:II.2(II-2)] | |
| 106838 |
M | 216165 |
Definitive | China | Chinese (China) | PMID:150198 [Fam.FQ:III.1(729)]; PMID:37099456 [Fam.10:III.1(III-1)] | ||
| 106939 |
M | 216189 |
49 | Definitive | France | Caucasian | PMID:150198 [Fam.FW:II.1(772)]; PMID:38423196 [Fam.1:II.1(P1)] | |
| 106942 |
M | 216189 |
50 | Definitive | France | Caucasian | PMID:150198 [Fam.FW:II.2(773)]; PMID:38423196 [Fam.1:II.2(P2)] | |
| 106953 |
M | 216195 | 7 | Definitive | U.S.A. | PMID:150198 [Fam.GA:793]; PMID:38901617 [Fam.1:I.1(P1)] | ||
| 106954 |
M | 216196 |
16 | Definitive | U.S.A. | PMID:150198 [Fam.GB:II.2(797)]; PMID:38901617 [Fam.2:II.2(P2)] | ||
| 106955 |
M | 216196 |
U.S.A. | PMID:150198 [Fam.GB:II.1(796)]; PMID:38901617 [Fam.2:II.1(P3)] |
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).