PanelApp (test)
  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 Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • autosomal recessive limb-girdle muscular dystrophy (MONDO: 0015152), HMGCR-related

Green HMGCR in Limb-Girdle Muscular Dystrophy and Distal Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 1.27

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152), HMGCR-related