Non-syndromic familial congenital anorectal malformationsGene: T
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.
Eleanor Williams: This gene has been added to th
Phenotypes for gene: T were set to sacral agenesis; anorectal atresia
T was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Literature
T was created by Eleanor Williams