Non-syndromic familial congenital anorectal malformations

Gene: TTC7A

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
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.