Dilated Cardiomyopathy
Gene: CHRM2

CHRM2 (cholinergic receptor muscarinic 2)
EnsemblGeneIds (GRCh38): ENSG00000181072
EnsemblGeneIds (GRCh37): ENSG00000181072
OMIM: 118493, Gene2Phenotype
CHRM2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

1 family with 12 affecteds (Cys176Gly, absent in gnomad). Proteomics analysis was later conducted

This gene has not been curated by the ClinGen DCM expert panel.
Sources: Expert Review
Created: 26 Apr 2022, 10:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Familial Dilated Cardiomyopathy MONDO#0016333, CHRM2-related

Publications

Created: 26 Apr 2022, 10:10 a.m.

Panel version: 1.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Expert Review

Phenotypes

Familial Dilated Cardiomyopathy MONDO#0016333, CHRM2-related

OMIM

118493

Clinvar variants

Variants in CHRM2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

26 Apr 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chrm2 has been classified as Red List (Low Evidence).

26 Apr 2022, Gel status: 1

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