Genomics England
GMS Panels
Panels
Genes and Entities

EXPH5

exophilin 5
OMIM: 612878
PanelMode of inheritanceDetails
1 panel
Green
in Epidermolysis bullosa and congenital skin fragility
R-numbers: R164
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epidermolysis bullosa, nonspecific, autosomal recessive, OMIM:615028