HMGCS1

3-hydroxy-3-methylglutaryl-CoA synthase 1
OMIM: 142940, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green HMGCS1 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rigid spine syndrome, MONDO:0019951, HMGCS1-related

Green HMGCS1 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.85

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Rigid spine syndrome, MONDO:0019951, HMGCS1-related