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DDG2P

Gene: HMGCR

Green List (high evidence)
HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase)
EnsemblGeneIds (GRCh38): ENSG00000113161
EnsemblGeneIds (GRCh37): ENSG00000113161
OMIM: 142910, Gene2Phenotype
HMGCR is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for HMGCR-related limb-girdle muscular dystrophy are moderate, biallelic_autosomal and loss of function (PMIDs: 36745799, 37167966). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03528.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease HMGCR-related limb-girdle muscular dystrophy is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 36745799;37167966).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HMGCR-related limb-girdle muscular dystrophy; MONDO:0957270; OMIM:620375.0

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HMGCR-related limb-girdle muscular dystrophy
OMIM
142910
Clinvar variants
Variants in HMGCR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: HMGCR was changed from Other to None

26 Sep 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

gene: HMGCR was added gene: HMGCR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HMGCR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCR were set to 37167966; 36745799 Phenotypes for gene: HMGCR were set to HMGCR-related limb-girdle muscular dystrophy Mode of pathogenicity for gene: HMGCR was set to Other