Arrhythmogenic Cardiomyopathy
Gene: KBTBD13EnsemblGeneIds (GRCh38): ENSG00000234438
EnsemblGeneIds (GRCh37): ENSG00000234438
OMIM: 613727, Gene2Phenotype
KBTBD13 is in 6 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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: LiteratureCreated: 3 Feb 2023, midnight
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intrinsic cardiomyopathy MONDO:0000591
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Intrinsic cardiomyopathy MONDO:0000591
- OMIM
- 613727
- Clinvar variants
- Variants in KBTBD13
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kbtbd13 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: kbtbd13 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)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