Cardiomyopathy, Familial Hypertrophic, 6; Cmh6
Description
Mutations in the PRKAG2 gene (OMIM ) give rise to a moderate, essentially heart-specific, nonlysosomal glycogenosis with clinical onset typically in late adolescence or in the third decade of life, ventricular pre-excitation predisposing to supraventricular arrhythmias, mild-to-severe cardiac hypertrophy, enhanced risk of sudden cardiac death in midlife, and autosomal dominant inheritance with full penetrance (summary by Burwinkel et al., 2005).
Genes related to Cardiomyopathy, Familial Hypertrophic, 6; Cmh6
- PRKAG2
Clinical Features
Top most frequent phenotypes and symptoms related to Cardiomyopathy, Familial Hypertrophic, 6; Cmh6
- Cardiomyopathy
- Arrhythmia
- Hypertrophic cardiomyopathy
- Sudden cardiac death
- Atrial fibrillation
- Bradycardia
- Muscle stiffness
- Atrioventricular block
- Bundle branch block
- Left bundle branch block
And another 5 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Cardiomyopathy, Familial Hypertrophic, 6; Cmh6 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Comprehensive Cardiac Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)
View the complete list with 86 more genes
Specificity
1 %
Genes
100 % |
Dilated & Arrhythmogenic Cardiomyopathies Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RYR2, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, PRDM16, ACTC1, CASQ2, LDB3, ACTN2, NEBL , (...)
View the complete list with 31 more genes
Specificity
2 %
Genes
100 % |
Hypertrophic Cardiomyopathy Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, MYOZ2, ACTC1, ACTN2, CSRP3, NEXN, DSG2, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PKP2, PLN , (...)
View the complete list with 3 more genes
Specificity
5 %
Genes
100 % |
Hypertrophic cardiomyopathy - full panel.
By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).
TNNC1, TNNI3, TNNT2, TPM1, TTR, MYOZ2, ACTC1, CAV3, ACTN2, CSRP3, NEXN, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2
Specificity
6 %
Genes
100 % |
Hypertrophic cardiomyopathy - familial variant analysis.
By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).
TNNC1, TNNI3, TNNT2, TPM1, TTR, MYOZ2, ACTC1, CAV3, ACTN2, CSRP3, NEXN, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2
Specificity
6 %
Genes
100 % |
Pan-cardiomyopathy panel.
By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).
RYR2, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, MYOZ2, ACTC1, CASQ2, CAV3, LDB3, ANKRD1, MYLK2, ACTN2, CRYAB , (...)
View the complete list with 25 more genes
Specificity
3 %
Genes
100 % |
Cardiomyopathy Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RYR2, SCN1B, SCN4B, SCN5A, SCO2, SGCD, SKI, BRAF, SNTA1, SOS1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3 , (...)
View the complete list with 92 more genes
Specificity
1 %
Genes
100 % |
Hypertrophic Cardiomyopathy Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SCO2, SURF1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, MYOZ2, JPH2, ACTC1, CAV3, LDB3, OBSCN, ANKRD1, MYLK2, ACTN2, COX15 , (...)
View the complete list with 16 more genes
Specificity
3 %
Genes
100 % |
You can get up to 141 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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