Genomics England
GMS Panels
Panels
Genes and Entities

EPB42

erythrocyte membrane protein band 4.2
OMIM: 177070
PanelMode of inheritanceDetails
1 panel
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spherocytosis, type 5, 612690, EPB42-related hereditary spherocytosis, 612690 Spherocytosis, type 5, Spherocytosis, Recessive, Elliptocytosis, Minkowski-Chauffard disease, RBC membrane abnormality, Hereditary spherocytosis type 5, 612690 Hereditary spherocytosis type 5