Non-syndromic familial congenital anorectal malformationsGene: TTC7A
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Multiple gastro-intestinal atresias
Comment on list classification: Rating as red as the observed gastrointestintal phenotypes are beyond the scope of the anorectal malformations panel
Created: 1 Nov 2018, 3:01 p.m.
Decision made with the Genomics England clinical team that the observed gastrointestintal phenotypes are beyond the scope of the anorectal malformations panel.
Created: 24 Oct 2018, 10:18 a.m.
Checking with Genomics England Clinical team if the observed phenotype associated with this gene is within the scope of this panel.
Created: 23 Oct 2018, 10:30 a.m.
TTC7A is associated with Gastrointestinal defects and immunodeficiency syndrome in OMIM and INTESTINAL ATRESIA, MULTIPLE (confirmed) in Gene2Phenotype. Numerous cases of patients TTC7A and gastrointestinal defects and immunodeficiency syndrome have been reported (PMID: 23423984;24292712;23830146;25174867;25174867).
Created: 16 Oct 2018, 9:26 a.m.
Comment on list classification: Rated gene Amber as is on expert list.
Created: 19 Sep 2018, 4:23 p.m.
Gene added from expert list from Dr Charles Shaw-Smith (Royal Devon and Exeter NHS Foundation Trust)
Created: 19 Sep 2018, 4:22 p.m.
Eleanor Williams: Gene added from expert list fr
Gene: ttc7a has been classified as Red List (Low Evidence).
Mode of inheritance for gene: TTC7A was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC7A were changed from anorectal malformation to anorectal malformation; Gastrointestinal defects and immunodeficiency syndrome 243150; INTESTINAL ATRESIA, MULTIPLE
Publications for gene: TTC7A were set to
Gene: ttc7a has been classified as Amber List (Moderate Evidence).
Added phenotypes anorectal malformation for gene: TTC7A
gene: TTC7A was added gene: TTC7A was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list Mode of inheritance for gene: TTC7A was set to Phenotypes for gene: TTC7A were set to anorectal malformation