Cataract
Gene: ADAM17

ADAM17 (ADAM metallopeptidase domain 17)
EnsemblGeneIds (GRCh38): ENSG00000151694
EnsemblGeneIds (GRCh37): ENSG00000151694
OMIM: 603639, Gene2Phenotype
ADAM17 is in 7 panels

1 review

Lauren Akesson (Royal Melbourne Hospital)

Red List (low evidence)

2 unrelated families reported with inflammatory neonatal-onset skin and bowel disease (PMID 22010916 (two affected siblings, consanguineous family); 25804906 (single proband, non-consanguineous family), both with homozygous loss of function variants. Cataracts were not a feature mentioned in the case reports. A mouse model was described in 2010 (PMID 21041656; 22236242) which had similar skin and gut disease.
Created: 20 Mar 2020, 2:41 a.m. | Last Modified: 20 Mar 2020, 2:41 a.m.

Panel Version: 0.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Inflammatory skin and bowel disease

Publications

Created: 20 Mar 2020, 2:41 a.m.
Last Modified: 20 Mar 2020, 2:41 a.m.
Panel version: 0.19

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Inflammatory skin and bowel disease

OMIM

603639

Clinvar variants

Variants in ADAM17

Penetrance

None

Publications

Panels with this gene