Genomics England
GMS Panels
Panels
Genes and Entities

HMGCR

3-hydroxy-3-methylglutaryl-CoA reductase
OMIM: 142910
PanelMode of inheritanceDetails
1 panel
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HMGCR-related limb-girdle muscular dystrophy