Genomics England
GMS Panels
Panels
Genes and Entities

EPB41L3

erythrocyte membrane protein band 4.1 like 3
OMIM: 605331
PanelMode of inheritanceDetails
1 panel
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EPB41L3-related developmental disorder with delayed myelination and seizures