HMGCS1

3-hydroxy-3-methylglutaryl-CoA synthase 1
OMIM: 142940, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green HMGCS1 in Mendeliome


Version 1.3795

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital myopathy 28 with rigid spine, MIM# 621433

Green HMGCS1 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.112

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital myopathy 28 with rigid spine, MIM# 621433