Prepair 1000+

Gene: TTC7A

Green List (high evidence)

OMIM: "Gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) is characterized by multiple intestinal atresia, in which atresia occurs at various levels throughout the small and large intestines. Surgical outcomes are poor, and the condition is usually fatal within the first month of life. Some patients exhibit inflammatory bowel disease (IBD), with or without intestinal atresia, and in some cases, the intestinal features are associated with either mild or severe combined immunodeficiency (Samuels et al., 2013; Avitzur et al., 2014; Lemoine et al., 2014)."

A meta-analysis of 98 mutant alleles demonstrated that patients with bi-allelic missense mutations have a better prognosis Patient outcomes loosely correlate poor survival to truncating mutations (ie, nonsense, frameshifts, large deletions) (PMID: 30553809; 28936210).

Created: 13 Dec 2024, 4:14 a.m. | Last Modified: 13 Dec 2024, 4:14 a.m.

Panel Version: 1.761

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gastrointestinal defects and immunodeficiency syndrome MIM#243150

Publications

• 28936210
• 30553809