ADAM17

ADAM metallopeptidase domain 17
OMIM: 603639, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber ADAM17 in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 2.10 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Alzheimer disease MONDO:0004975
Red ADAM17 in Cataract Level 2: Ophthalmological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Inflammatory skin and bowel disease
Green ADAM17 in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 1.1 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328 Recurrent infections
Green ADAM17 in Mendeliome Version 2.177	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Inflammatory neonatal-onset skin and bowel disease, MIM#614328
Green ADAM17 in Autoinflammatory Disorders Level 2: Immunological disorders Version 3.9 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328 Recurrent infections
Red ADAM17 in Hair disorders Level 2: Dermatological disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Hypotrichosis 16, MIM# 621490
Red ADAM17 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Neonatal inflammatory skin and bowel disease
Red ADAM17 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Neonatal inflammatory skin and bowel disease