1. Genes and Genomic Entities
  2. HMGCS1

HMGCS1

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber HMGCS1 in Congenital myopathy


Level 2: Neurology
Version 7.55
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Congenital myopathy 28 with rigid spine, OMIM:621433
    • congenital myopathy 28 with rigid spine, MONDO:0980756
    Tags
    • Q2_26_promote_green
    • Q2_26_NHS_review
    Amber HMGCS1 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 9.14
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Congenital myopathy 28 with rigid spine, OMIM:621433
    • congenital myopathy 28 with rigid spine, MONDO:0980756
    Tags
    • Q2_26_promote_green