Genomics England
GMS Panels
Panels
Genes and Entities

FERMT1

fermitin family member 1
OMIM: 607900
PanelMode of inheritanceDetails
2 panels
Green
in Epidermolysis bullosa and congenital skin fragility
R-numbers: R164
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kindler syndrome, OMIM:173650
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling, Kindler syndrome, 173650, Diseases of Immune Dysregulation, Kindler syndrome, OMIM:173650, FERMT1 deficiency (Kindler syndrome)