DDG2P
Gene: RRAGC

RRAGC (Ras related GTP binding C)
EnsemblGeneIds (GRCh38): ENSG00000116954
EnsemblGeneIds (GRCh37): ENSG00000116954
OMIM: 608267, Gene2Phenotype
RRAGC is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease RRAGC-related congenital dilated cardiomyopathy with hyperlactatemia, deranged liver function and cataracts is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 27234373;37057673).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.

Panel Version: 4.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
RRAGC-related congenital dilated cardiomyopathy with hyperlactatemia, deranged liver function and cataracts

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

RRAGC-related congenital dilated cardiomyopathy with hyperlactatemia, deranged liver function and cataracts

Tags

de novo

OMIM

608267

Clinvar variants

Variants in RRAGC

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag de novo tag was added to gene: RRAGC.

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: RRAGC was added gene: RRAGC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RRAGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RRAGC were set to 37057673; 27234373 Phenotypes for gene: RRAGC were set to RRAGC-related congenital dilated cardiomyopathy with hyperlactatemia, deranged liver function and cataracts Mode of pathogenicity for gene: RRAGC was set to Other

DDG2P Gene: RRAGC