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Infantile enterocolitis & monogenic inflammatory bowel disease v1.31 COL7A1 Arina Puzriakova Publications for gene: COL7A1 were set to 27537055; 11781296
Infantile enterocolitis & monogenic inflammatory bowel disease v1.27 COL7A1 Arina Puzriakova Mode of inheritance for gene: COL7A1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Infantile enterocolitis & monogenic inflammatory bowel disease v1.26 COL7A1 Arina Puzriakova Classified gene: COL7A1 as Amber List (moderate evidence)
Infantile enterocolitis & monogenic inflammatory bowel disease v1.26 COL7A1 Arina Puzriakova Added comment: Comment on list classification: Internal review from the Genomics England clinical team has advised this gene be made Amber, as although there is evidence for gastrointestinal phenotypes in patients who are homozygous for variants in this gene, the skin phenotype more commonly associated with Epidermolysis bullosa is severe and would likely be picked up elsewhere.
Infantile enterocolitis & monogenic inflammatory bowel disease v1.26 COL7A1 Arina Puzriakova Gene: col7a1 has been classified as Amber List (Moderate Evidence).
Infantile enterocolitis & monogenic inflammatory bowel disease v1.16 COL7A1 Zornitza Stark reviewed gene: COL7A1: Rating: RED; Mode of pathogenicity: None; Publications: 27537055, 25058236; Phenotypes: Epidermolysis bullosa dystrophica, AR, MIM# 226600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Infantile enterocolitis & monogenic inflammatory bowel disease COL7A1 Ellen McDonagh classified COL7A1 as green
Infantile enterocolitis & monogenic inflammatory bowel disease COL7A1 Ellen McDonagh commented on COL7A1
Infantile enterocolitis & monogenic inflammatory bowel disease COL7A1 Neil shah reviewed COL7A1