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
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.