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| Hypertrophic cardiomyopathy v4.7 | SVIL |
Dmitrijs Rots gene: SVIL was added gene: SVIL was added to Hypertrophic cardiomyopathy. Sources: Literature Mode of inheritance for gene: SVIL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SVIL were set to PMID: 36778260 Phenotypes for gene: SVIL were set to HCM Review for gene: SVIL was set to AMBER Added comment: In the novel paper described:"the excess burden is even greater at 15.3-fold (95% CI: 5.7-41.3; P:7x10−7) when restricting the analysis to high confidence LoF variants affecting the predominant SVIL transcript in LV (ENST00000375400) (Supplementary Table 6b). In one family, the SVIL LoF variant (p.(Gln255*)) was carried by two cousins with HCM (parents deceased), providing some evidence of co-segregation. Taken together, these data support SVIL as a novel HCM disease gene." Strong statistical evidence + one family segregating. Sources: Literature |
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