Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: RTEL1Comment on list classification: Enteropathy reportedCreated: 13 Oct 2016, 8:53 p.m.
Comment on list classification: Rated green by expert review, and high level of evidence for association with Dyskeratosis congenita, autosomal dominant 4 and Dyskeratosis congenita, autosomal recessive 5 (confirmed DD gene), though unsure whether these diseases always feature colitis/inflammatory bowel disease.Created: 13 Oct 2016, 2:27 p.m.
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Mode of inheritance for RTEL1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Phenotypes for RTEL1 were set to Hoyeraal Hreidarsson Syndrome; Dyskeratosis congenita, autosomal dominant 4; Dyskeratosis congenita, autosomal recessive 5
Mode of inheritance for RTEL1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
RTEL1 was created by ellenmcdonagh
RTEL1 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list