Information on subject 101651
Basic details
Sex: Male
Country:
Population:
Consanguinity: No
Clin. status: Affected
Age of death:
Ref.ID & pub.codes
- 2021 [118] Fam.F226:P226
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
PMS2 |
T597S |
EX11 | c.1789A>T | p.Thr597Ser | missense_variant | Benign | HET |
Unassigned |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| Unk. | Hypogammaglobulinemia |
Yes | ||
| 20.69 | Hypogammaglobulinemia |
Yes | ||
| 20.69 | Recurrent upper respiratory tract infection |
Yes | recurrent | |
| 27.94 | Splenomegaly |
Yes | ||
| 30.53 | Autoimmune hemolytic anemia |
Yes | ||
| 21.03 | Bronchitis |
Yes | ||
| 28.16 | Asthma |
Yes | ||
| 28.16 | Gastroesophageal reflux |
Yes | ||
| 21.00 | Bronchopneumonia |
Yes | ||
| 27.96 | Bronchiectasis |
Yes | ||
| 20.69 | Warts |
Yes | chronic | |
| 21.03 | Tricuspid Valve Insufficiency |
Yes | ||
| 28.16 | Disproportionate short stature |
Yes | ||
| 28.16 | Osteoarthritis |
Yes | ||
| 31.65 | Portal hypertension |
Yes | ||
| 31.65 | Esophageal varices |
Yes | ||
| Unk. | (unusual) Epstein-Barr virus infection |
Yes | ||
| 21.00 | Pulmonary Hypertension |
Yes | ||
| 20.69 | Bronchiolitis |
Yes | ||
| Unk. | Varicella zoster virus infection |
Yes | severe | |
| 31.27 | T-cell large granular lymphocyte leukemia |
Yes |
Cell counts
| Age | Cell_type | Cells/ul | Ref.range | Relative(%) | Ref.range(%) | Result |
|---|
* Measured under treatment or HSCT.
Plasma proteins
| Age | Molecule[ℹ] | Value | Ref.range | Result |
|---|
[ℹ] shows name on hover
* Measured during IVIG or other treatment.
Phenotypic & functional assays
| Age | Parameter[ℹ] | Result* | Cells | Methods[ℹ] | Stimuli | Ref. |
|---|
[ℹ] shows more on hover
* Compared to WT controls
📊 shows raw values on hover