Inflammatory bowel disease
Gene: ADAM17EnsemblGeneIds (GRCh38): ENSG00000151694
EnsemblGeneIds (GRCh37): ENSG00000151694
OMIM: 603639, Gene2Phenotype
ADAM17 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three unrelated families reported, inflammatory bowel disease was prominent in two; support from mouse model.
Sources: Expert ReviewCreated: 9 Apr 2020, 12:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328; Recurrent infections
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328
- Recurrent infections
- OMIM
- 603639
- Clinvar variants
- Variants in ADAM17
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adam17 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adam17 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ADAM17 was added gene: ADAM17 was added to Inflammatory bowel disease. Sources: Expert Review Mode of inheritance for gene: ADAM17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAM17 were set to 22010916; 29560122; 26683521; 25804906 Phenotypes for gene: ADAM17 were set to Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328; Recurrent infections Review for gene: ADAM17 was set to GREEN