Non-syndromic familial congenital anorectal malformations

Gene: T

Red List (low evidence)

T (T brachyury transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000164458
EnsemblGeneIds (GRCh37): ENSG00000164458
OMIM: 601397, Gene2Phenotype
T is in 6 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Phenotypes added from publication PMID:10204846
Created: 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

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