Genomics England
GMS Panels
Panels
Genes and Entities

ADAM17

ADAM metallopeptidase domain 17
OMIM: 603639
PanelMode of inheritanceDetails
3 panels
Green
in Intestinal failure or congenital diarrhoea
R-numbers: R331
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Inflammatory skin and bowel disease, neonatal, 1, OMIM:614328
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Inflammatory skin and bowel disease, neonatal
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
inflammatory skin, Inflammatory skin and bowel disease, neonatal, 1, Inflammatory skin and bowel disease, neonatal 1, 614328, ADAM17 deficiency, Autoinflammatory Disorders, IBD-1, Early onset diarrhea and skin lesions, Recurrent infections