Infantile enterocolitis & monogenic inflammatory bowel diseaseGene: COL7A1
This gene is suggested as an IBD gene in the review by Uhlig et al (25058236) based on the link with EB dystrophica. EB dystrophica has GI manifestations, but these are primarily mucosal blistering and development of strictures, I am not convinced it truly overlaps IBD and diagnosis would be guided by the dermatological presentation. Single canonical splice site variant reported in an individual with IBD in PMID 27537055, no skin features and unclear whether causative/contributory or incidental carrier finding.
Created: 10 Apr 2020, 5:48 a.m. | Last Modified: 10 Apr 2020, 5:48 a.m.
Panel Version: 1.16
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa dystrophica, AR, MIM# 226600
Comment on list classification: Promoted from red to green due to expert review. Strong evidence for its role in Dystrophic epidermolysis bullosa, of which the recessive form includes features of inflammatory bowel disease.
Created: 12 Oct 2016, 9:54 a.m.
Comment on mode of inheritance: The more severe (autosomal recessive) form of Dystrophic epidermolysis bullosa includes gastrointestinal clinical features such as esophageal blisters, esophageal strictures, dysphagia, anal blisters and constipation.
Created: 12 Oct 2016, 9:52 a.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 COL7A1 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 Green List (High Evidence).
Mode of inheritance for COL7A1 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for COL7A1 were set to 27537055; 11781296
Publications for COL7A1 were set to 27537055;11781296
COL7A1 was created by ellenmcdonagh
COL7A1 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list