Paediatric or syndromic cardiomyopathy
Gene: RRAGCRemoved '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
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 tagCreated: 16 Oct 2023, 8:29 p.m. | Last Modified: 16 Oct 2023, 8:29 p.m.
Panel Version: 3.38
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
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, LiteratureCreated: 11 Apr 2023, 8:45 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: RRAGC were changed from Dilated cardiomyopathy, hepatopathy and brain abnormalities to Long-Olsen syndrome, OMIM:620609
Tag gene-checked was removed from gene: RRAGC.
Tag gene-checked tag was added to gene: RRAGC.
Tag Q2_23_promote_green was removed from gene: RRAGC. Tag Q2_23_NHS_review was removed from gene: RRAGC.
Source Expert Review Green was added to RRAGC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: rragc has been classified as Amber List (Moderate Evidence).
Tag Q2_23_promote_green tag was added to gene: RRAGC. Tag Q2_23_NHS_review tag was added to gene: RRAGC.
Phenotypes for gene: RRAGC were changed from to Dilated cardiomyopathy, hepatopathy and brain abnormalities
Publications for gene: RRAGC were set to 27234373
gene: RRAGC was added gene: RRAGC was added to Paediatric or syndromic cardiomyopathy. Sources: NHS GMS,Literature Mode of inheritance for gene: RRAGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RRAGC were set to 27234373 Penetrance for gene: RRAGC were set to unknown Review for gene: RRAGC was set to GREEN gene: RRAGC was marked as current diagnostic