Dilated and arrhythmogenic cardiomyopathy

Gene: RRAGC

After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. Reviewers note that there is a syndromic phenotype, where isolated DCM is not the primary presenting feature, and onset is very early and severe. The R135 Paediatric or syndromic cardiomyopathy panel is more appropriate (it is already green on R135).

Created: 6 Dec 2024, 9:37 a.m. | Last Modified: 6 Dec 2024, 9:37 a.m.

Panel Version: 2.35

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

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