Gastrointestinal epithelial barrier disorders
Gene: ADAM17Comment when marking as ready: This gene is being marked as ready, having been reviewed internally by the clinical team, by the curation team and by the expert reviewer. 25/07/2018Created: 25 Jul 2018, 4:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Inflammatory skin and bowel disease, neonatal, 1 614328
Comment on list classification: Green review from expert reviewer, and found in 2/4 original sources, though only one family report found for association with neonatal inflammatory bowel disease (a sister and brother with neonatal inflammatory skin and bowel lesions) - PMID: 22010916, after an extensive literature search. There is functional/mouse model evidence to support the association, and ADAM17 is known to have a role in controlling inflammation and tissue regeneration (PMID: 21752713).Created: 12 Oct 2016, 8:54 a.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
Gene: adam17 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene ADAM17 were set to ?Inflammatory skin and bowel disease, neonatal, 1 614328, Gastrointestinal epithelial barrier disorders, Immunodeficiency 33, 300636, Immunodeficiency, isolated, 300584, ?Inflammatory skin and bowel disease, neonatal, 1, 614328
Phenotypes for gene ADAM17 were set to ?Inflammatory skin and bowel disease, neonatal, 1 614328, Gastrointestinal epithelial barrier disorders, Immunodeficiency 33, 300636, Immunodeficiency, isolated, 300584, ?Inflammatory skin and bowel disease, neonatal, 1, 614328
ADAM17 was added to Gastrointestinal epithelial barrier disorderspanel. Source: Expert list
ADAM17 was created by sleigh
ADAM17 was added to Gastrointestinal epithelial barrier disorderspanel. Sources: Eligibility statement prior genetic testing,Radboud University Medical Center, Nijmegen,UKGTN