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  3. HMGCR
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Congenital muscular dystrophy

Gene: HMGCR

No list
HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase)
EnsemblGeneIds (GRCh38): ENSG00000113161
EnsemblGeneIds (GRCh37): ENSG00000113161
OMIM: 142910, Gene2Phenotype
HMGCR is in 3 panels

1 review

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

causes a recessive form of muscular dystrophy, green in LGMD, but given the overlap and relative early onset I would add for CMD panel
Created: 22 May 2026, 1:49 p.m. | Last Modified: 22 May 2026, 1:49 p.m.
Panel Version: 7.6

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: 7.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • NHS GMS
OMIM
142910
Clinvar variants
Variants in HMGCR
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: hmgcr 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: HMGCR was added gene: HMGCR was added to Congenital muscular dystrophy. Sources: NHS GMS Mode of inheritance for gene: HMGCR was set to BIALLELIC, autosomal or pseudoautosomal