1. Genes and Genomic Entities
  2. HMGCR

HMGCR

3-hydroxy-3-methylglutaryl-CoA reductase
OMIM: 142910, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green HMGCR in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies


Level 2: Neurology
Version 5.29
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    • Expert Review
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 28, OMIM:620375
    Green HMGCR in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HMGCR-related limb-girdle muscular dystrophy