Non-syndromic familial congenital anorectal malformations
Gene: T
T (T brachyury transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000164458
EnsemblGeneIds (GRCh37): ENSG00000164458
OMIM: 601397, Gene2Phenotype
T is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000164458
EnsemblGeneIds (GRCh37): ENSG00000164458
OMIM: 601397, Gene2Phenotype
T is in 7 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on phenotypes: Phenotypes added from publication PMID:10204846Created: 14 Aug 2018, 4:05 p.m.
This gene has been added to the panel as a candidate gene because Papapetrou et al., 1999 (PMID: 10204846) report the analysis of the T gene in 28 patients with sacral agenesis/ anorectal atresia and 60 normal, unrelated controls of white UK origin. A novel, rare variant (Ala338Val) was found in the T gene in one patient and her mother. This mutation leads to an amino acid change within a conserved activation domain.Created: 4 Aug 2018, 10:43 p.m.
Details
- Sources
-
- Literature
- Phenotypes
-
- sacral agenesis
- anorectal atresia
- Tags
- OMIM
- 601397
- Clinvar variants
- Variants in T
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
8 Nov 2018, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Eleanor Williams: This gene has been added to th
14 Aug 2018, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: T were set to sacral agenesis; anorectal atresia
3 Aug 2018, Gel status: 1
Added New Source
Eleanor Williams (Genomics England Curator)T was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Literature
3 Aug 2018, Gel status: 1
Created
Eleanor Williams (Genomics England Curator)T was created by Eleanor Williams