Information on CORO1A
Basic details
Alt. symbols: HCORO1 | p57 | coronin-1
Approved name: coronin 1A
Alt. names: coronin, actin-binding protein, 1A | Clabp TACO
Location: 16p11.2: 30182827 - 30189076 (+)
Gene type: protein_coding, 18 transcripts.
Scores: LoFtool: 0.139000 | pLI: 0.95449148 | LOEUF: 0.320
Normal function
Dysfunction and disease
Immunodeficiency 8 [MIM:615401] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
SCID7 |
Immunodeficiency 8 | AR |
615401 |
9 (5 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not been completed yet. It is currently ongoing.
Transcripts of CORO1A
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 216 | ENST00000570045.5 | CCDS10673 | protein_coding | 12 | No | 1622 | NM_001193333 | ||
| 201 | ENST00000219150.10 | CCDS10673 | Select | protein_coding | 11 | Yes | 1623 | NM_007074 |
Published variants
Found 7 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|---|---|---|---|---|---|---|
| 600Kb-(EX1_10)-DEL |
EX1-10 | 1-1362 | c.1_1237del | p.? | transcript_ablation | Pathogenic | 2 |
|
transcript_amplification | Likely Pathogenic | 0 | ||||
| P83Rfs*11 |
EX3 | 373-374 | c.248_249del | p.Pro83ArgfsTer11 | frameshift_variant | Pathogenic | 3 |
| V134M |
EX4 | 525 | c.400G>A | p.Val134Met | missense_variant | Pathogenic | 3 |
| W139G |
EX4 | 540 | c.415T>G | p.Trp139Gly | missense_variant | Pathogenic | 1 |
| Q360Rfs*45 |
EX10 | 1202 | c.1078del | p.Gln360ArgfsTer45 | frameshift_variant | Pathogenic | 2 |
| S401Efs*92 |
EX10 | 1316-1317 | c.1196dup | p.Ser401GlufsTer92 | frameshift_variant | Pathogenic | 2 |
Please mind that full curation (inclusion of all published variants) of this gene has not been completed yet. It is currently ongoing.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | NM_007074.3: EX10 (>98%) |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in CORO1A
| ID | Year | Title | Journal | PMID | Variants |
|---|---|---|---|---|---|
| 537 |
2022 | Copy Number Analysis in a Large Cohort Suggestive of Inborn ... | JoCI | 35486341 |
1 |
| 683 |
2009 | Severe combined immunodeficiency (SCID) and attention defici... | Clin. Immunol. | 19097825 |
2 |
| 684 |
2014 | Compound heterozygous CORO1A mutations in siblings with a mu... | JoCI | 25073507 |
2 |
| 685 |
2008 | The actin regulator coronin 1A is mutant in a thymic egress-... | Nat. Immun. | 18836449 |
2 |
| 686 |
2022 | Childhood Kaposi sarcoma related to hypomorphic severe combi... | Pediatr. Blood Cancer | 34913575 |
2 |
| 687 |
2013 | Whole-exome sequencing identifies Coronin-1A deficiency in 3... | JACI | 23522482 |
1 |
| 688 |
2016 | Recurrent viral infections associated with a homozygous CORO... | JACI | 26476480 |
1 |