1. Genes and Genomic Entities
  2. HMGCS1

HMGCS1

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

3 panels

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


Level 2: Neurology
Version 7.81
Latest signed off version: v7.77 (12 Aug 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 10.35
    Latest signed off version: v10.0 (12 Aug 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
    Amber HMGCS1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.31
    Latest signed off version: v8.0 (12 Aug 2026)

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