Genomics England
GMS Panels
Panels
Genes and Entities

KLHL24

kelch like family member 24
OMIM: 611295
PanelMode of inheritanceDetails
1 panel
Green
in Epidermolysis bullosa and congenital skin fragility
R-numbers: R164
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epidermolysis bullosa simplex, generalized, with scarring and hair loss, OMIM:617294