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| Brugada syndrome v1.4 | RRAD | Zornitza Stark Marked gene: RRAD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome v1.4 | RRAD | Zornitza Stark Gene: rrad has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome v1.4 | RRAD |
Zornitza Stark gene: RRAD was added gene: RRAD was added to Brugada syndrome. Sources: Literature Mode of inheritance for gene: RRAD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RRAD were set to 34185406; 31114854 Phenotypes for gene: RRAD were set to Brugada syndrome, MONDO:0015263, RRAD-related Review for gene: RRAD was set to RED Added comment: RRAD encodes the RAD GTPase, a member of the RGK subfamily involved in regulation of cardiac ion channels and cytoskeletal dynamics. PMID 31114854 reports five affected members of a three‑generation French family carrying a rare missense variant p.R211H in RRAD, present in 3 hets in gnomAD v4. iPSC‑derived cardiomyocytes from two affected relatives, as well as a CRISPR‑edited isogenic line, showed reduced Na⁺ peak current, increased persistent Na⁺ current, prolonged action potentials and cytoskeletal disorganisation, supporting a gain‑of‑function effect of the mutant GTPase. Screening of 186 unrelated BrS patients identified three additional rare RRAD missense variants without functional validation and with much higher gnomAD counts. Sources: Literature |
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