Paediatric or syndromic cardiomyopathy
Gene: RRAGC

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

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Removed 'gene-checked' tag as this gene is now associated with phenotype in OMIM.
Created: 1 Dec 2023, 1:22 p.m. | Last Modified: 1 Dec 2023, 1:22 p.m.

Panel Version: 3.42

Phenotypes
Long-Olsen syndrome, OMIM:620609

Created: 1 Dec 2023, 1:22 p.m.
Last Modified: 1 Dec 2023, 1:22 p.m.
Panel version: 3.42

Eleanor Williams (Genomics England Curator)

This gene is not currently associated with a disease phenotype in OMIM, but checked PMID:27234373 to make sure it is the same gene listed in the publication as on this panel and it is, so added the gene-checked tag
Created: 16 Oct 2023, 8:29 p.m. | Last Modified: 16 Oct 2023, 8:29 p.m.

Panel Version: 3.38

Created: 16 Oct 2023, 8:29 p.m.
Last Modified: 16 Oct 2023, 8:29 p.m.
Panel version: 3.38

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 11 Oct 2023, 1:13 p.m. | Last Modified: 11 Oct 2023, 1:13 p.m.

Panel Version: 3.37

Comment on list classification: New gene added by Hannah Robinson (South West Genomic Laboratory Hub). Sufficient evidence to promote this gene to Green at the next GMS panel update.
Created: 10 May 2023, 2:08 p.m. | Last Modified: 10 May 2023, 2:08 p.m.

Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 10 May 2023, 2:08 p.m.
Last Modified: 10 May 2023, 2:08 p.m.
Panel version: 3.37

Hannah Robinson (South West Genomic Laboratory Hub)

Green List (high evidence)

Newborn patient reported with syndromic DCM ventricular dilation and systolic dysfunction, bilateral cataracts, and mild facial dysmorphisms with de novo missense variant in RRAGC (PMID: 27234373). Subsequently, three unrelated patients reported with de novo variants in this gene displayed DCM and hepatopathy, plus brain anomalies including pachygyria,
polymicrogyria, and septo-optic dysplasia (https://doi.org/10.1016/j.gim.2023.100838, PMID not yet available). Additional patient identified through R14 WGS in Exeter Genomics Laboratory.
Sources: NHS GMS, Literature
Created: 11 Apr 2023, 8:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

27234373

Variants in this GENE are reported as part of current diagnostic practice

Created: 11 Apr 2023, 8:45 a.m.

Panel version: 3.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green

Phenotypes

Long-Olsen syndrome, OMIM:620609

OMIM

608267

Clinvar variants

Variants in RRAGC

Penetrance

unknown

Publications

Panels with this gene

History Filter Activity

1 Dec 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: RRAGC were changed from Dilated cardiomyopathy, hepatopathy and brain abnormalities to Long-Olsen syndrome, OMIM:620609

1 Dec 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked was removed from gene: RRAGC.

16 Oct 2023, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: RRAGC.

11 Oct 2023, Gel status: 3