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| Paediatric or syndromic cardiomyopathy v3.43 | RRAGC | Achchuthan Shanmugasundram Phenotypes for gene: RRAGC were changed from Dilated cardiomyopathy, hepatopathy and brain abnormalities to Long-Olsen syndrome, OMIM:620609 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v3.42 | RRAGC | Achchuthan Shanmugasundram reviewed gene: RRAGC: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Long-Olsen syndrome, OMIM:620609; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v3.42 | RRAGC | Achchuthan Shanmugasundram Tag gene-checked was removed from gene: RRAGC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v3.38 | RRAGC | Eleanor Williams Tag gene-checked tag was added to gene: RRAGC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v3.38 | RRAGC | Eleanor Williams commented on gene: RRAGC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v3.37 | RRAGC |
Arina Puzriakova Tag Q2_23_promote_green was removed from gene: RRAGC. Tag Q2_23_NHS_review was removed from gene: RRAGC. |
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| Paediatric or syndromic cardiomyopathy v3.37 | RRAGC | Arina Puzriakova edited their review of gene: RRAGC: Added comment: 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.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v3.36 | RRAGC |
Arina Puzriakova Source Expert Review Green was added to RRAGC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Paediatric or syndromic cardiomyopathy v3.12 | RRAGC | Arina Puzriakova Classified gene: RRAGC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v3.12 | RRAGC | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v3.12 | RRAGC | Arina Puzriakova Gene: rragc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v3.11 | RRAGC |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: RRAGC. Tag Q2_23_NHS_review tag was added to gene: RRAGC. |
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| Paediatric or syndromic cardiomyopathy v3.11 | RRAGC | Arina Puzriakova Phenotypes for gene: RRAGC were changed from to Dilated cardiomyopathy, hepatopathy and brain abnormalities | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v3.10 | RRAGC | Arina Puzriakova Publications for gene: RRAGC were set to 27234373 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v3.4 | RRAGC |
Hannah Robinson 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 Added comment: 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 |
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