Vasculitis
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 families reported, primarily presenting with severe diarrhoea, skin rash and recurrent sepsis.Created: 9 Apr 2020, 12:33 a.m. | Last Modified: 9 Apr 2020, 12:33 a.m.
Panel Version: 0.8
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 Red
- Victorian Clinical Genetics Services
- 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 Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ADAM17 were changed from to Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328; Recurrent infections
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ADAM17 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ADAM17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adam17 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ADAM17 was added gene: ADAM17 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ADAM17 was set to Unknown