Gastrointestinal epithelial barrier disorders
Gene: RTEL1Comment on list classification: Two cases listed on OMIM noting Colitis in patients with Dyskeratosis Congenita with variants in this gene. With this evidence and the expert review green, promoting this to high evidence.Created: 25 Jul 2018, 4:14 p.m.
Comment 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.
Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
Mode of inheritance for gene: RTEL1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: rtel1 has been classified as Green List (High Evidence).
RTEL1 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list
RTEL1 was created by Olivia Niblock