ADAM17

ADAM metallopeptidase domain 17
OMIM: 603639, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green ADAM17 in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.45	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Expert list Phenotypes ADAM-17 deficiency ?Inflammatory skin and bowel disease, neonatal, 1, OMIM:614328
Amber ADAM17 in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.76	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?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
Green ADAM17 in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green IUIS Classification February 2018 IUIS Classification December 2019 London North GLH GOSH PID v.8.0 NHS GMS GRID V2.0 North West GLH Victorian Clinical Genetics Services IUIS Classification December 2019 North West GLH London North GLH NHS GMS IUIS Classification February 2018 Victorian Clinical Genetics Services GRID V2.0 GOSH PID v.8.0 Phenotypes IBD-1 ADAM17 deficiency Inflammatory skin and bowel disease, neonatal, 1 Inflammatory skin and bowel disease, neonatal 1, 614328 Autoinflammatory Disorders inflammatory skin Early onset diarrhea and skin lesions
Green ADAM17 in Intestinal failure or congenital diarrhoea Level 2: Gastrohepatology Version 3.7 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ?Inflammatory skin and bowel disease, neonatal, 1, OMIM:614328
Green ADAM17 in Palmoplantar keratodermas Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Inflammatory skin and bowel disease, neonatal
Green ADAM17 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other IUIS Classification December 2019 North West GLH London North GLH NHS GMS IUIS Classification February 2018 Victorian Clinical Genetics Services GRID V2.0 GOSH PID v.8.0 Phenotypes inflammatory skin Inflammatory skin and bowel disease, neonatal, 1 Inflammatory skin and bowel disease, neonatal 1, 614328 ADAM17 deficiency Autoinflammatory Disorders IBD-1 Early onset diarrhea and skin lesions Recurrent infections