Genomics England
GMS Panels
Panels
Genes and Entities

EXPH5

exophilin 5
OMIM: 612878
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
INHERITED SKIN FRAGILITY 615028
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