Activity
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6 actions
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| Paediatric or syndromic cardiomyopathy v6.3 | KBTBD13 | Achchuthan Shanmugasundram Classified gene: KBTBD13 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v6.3 | KBTBD13 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although three unrelated families and evidence from mouse model are available in support of the association, all cases were reported with the same founder variant. Hence, this gene should be rated amber with the current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v6.3 | KBTBD13 | Achchuthan Shanmugasundram Gene: kbtbd13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v6.2 | KBTBD13 | Achchuthan Shanmugasundram Phenotypes for gene: KBTBD13 were changed from to Nemaline myopathy 6, autosomal dominant, OMIM:609273; intrinsic cardiomyopathy, MONDO:0000591 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v6.1 | KBTBD13 | Achchuthan Shanmugasundram reviewed gene: KBTBD13: Rating: AMBER; Mode of pathogenicity: None; Publications: 36335629; Phenotypes: Nemaline myopathy 6, autosomal dominant, OMIM:609273, intrinsic cardiomyopathy, MONDO:0000591; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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