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| Paediatric or syndromic cardiomyopathy v2.1 | KBTBD13 |
Dmitrijs Rots gene: KBTBD13 was added gene: KBTBD13 was added to Cardiomyopathies - including childhood onset. Sources: Literature Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KBTBD13 were set to 36335629 Penetrance for gene: KBTBD13 were set to Incomplete Mode of pathogenicity for gene: KBTBD13 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: KBTBD13 was set to GREEN Added comment: 3 families with cardiomyopathy and other related cardiac phenotypes reported in 36335629 with mouse model. Enough evidence for green. All cases had p.R408C variant. Sources: Literature |
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