PanelApp
  1. Genes and Genomic Entities
  2. ADAM17

ADAM17

ADAM metallopeptidase domain 17
OMIM: 603639, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red ADAM17 in Cataract


Level 2: Ophthalmological disorders
Version 0.631

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 0.126

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 1.4541

    		2 reviews 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 2.46

    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 0.83

    		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 0.280

    		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 1.147

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Neonatal inflammatory skin and bowel disease