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| Arrhythmogenic Cardiomyopathy v0.68 | KBTBD13 | Zornitza Stark Marked gene: KBTBD13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.68 | KBTBD13 | Zornitza Stark Gene: kbtbd13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.68 | KBTBD13 | Bryony Thompson Classified gene: KBTBD13 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.68 | KBTBD13 | Bryony Thompson Gene: kbtbd13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.67 | KBTBD13 |
Bryony Thompson gene: KBTBD13 was added gene: KBTBD13 was added to Arrhythmogenic Cardiomyopathy. 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 Phenotypes for gene: KBTBD13 were set to Intrinsic cardiomyopathy MONDO:0000591 Review for gene: KBTBD13 was set to AMBER gene: KBTBD13 was marked as current diagnostic Added comment: In 3 families with the Nemaline myopathy type 6 (NEM6) Dutch founder variant, c.1222C>T, p.Arg408Cys (KBTBD13 p.R408C), a cardiac phenotype was found to co-segregate with the variant (LOD score 6.02). In total, 65 NEM6 patients were evaluated of whom 12% presented with LV dilatation, 29% with LVEF < 50%, 8% with atrial fibrillation, 9% with ventricular tachycardia, and 20% with repolarization abnormalities. Although some patients meet criteria for dilated cardiomyopathy, others have normal LV dimensions and meet criteria for arrhythmogenic cardiomyopathy, or display arrhythmia in the absence of cardiomyopathy. Mouse studies demonstrated that mice harbouring the Kbtbd13 p.R408C variant displayed mild diastolic dysfunction and Kbtbd13-deficient mice have systolic dysfunction. Currently, a cardiac phenotype has not been identified in individuals with any other pathogenic variants in KBTBD13. Sources: Literature |
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