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  2. Congenital myopathy
  3. HMGCS1
STRs in panel
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Congenital myopathy

Gene: HMGCS1

No list
HMGCS1 (3-hydroxy-3-methylglutaryl-CoA synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000112972
EnsemblGeneIds (GRCh37): ENSG00000112972
OMIM: 142940, Gene2Phenotype
HMGCS1 is in 1 panel

1 review

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

novel form of CM with rigid spine, reported in a few families from Spain and Japan
Created: 22 May 2026, 1:49 p.m. | Last Modified: 22 May 2026, 1:49 p.m.
Panel Version: 7.14

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 22 May 2026, 1:49 p.m.
Last Modified: 22 May 2026, 1:49 p.m.
Panel version: 7.14

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • NHS GMS
OMIM
142940
Clinvar variants
Variants in HMGCS1
Penetrance
None
Panels with this gene

History Filter Activity

22 May 2026, Gel status: 0

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: hmgcs1 has been removed from the panel.

22 May 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: HMGCS1 was added gene: HMGCS1 was added to Congenital myopathy. Sources: NHS GMS Mode of inheritance for gene: HMGCS1 was set to BIALLELIC, autosomal or pseudoautosomal