Arrhythmogenic Right Ventricular Dysplasia, Familial, 12; Arvd12

Clinical Features

Top most frequent phenotypes and symptoms related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 12; Arvd12

  • Ventriculomegaly
  • Cardiomyopathy
  • Congestive heart failure
  • Dilatation
  • Tachycardia
  • Syncope
  • Ventricular tachycardia
  • Ventricular arrhythmia
  • Bundle branch block
  • Abnormal EKG

And another 8 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Arrhythmogenic Right Ventricular Dysplasia, Familial, 12; Arvd12 Is also known as arrhythmogenic right ventricular cardiomyopathy 12, arvc12.

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.


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Arrhythmogenic Right Ventricular Dysplasia, Familial, 12; Arvd12 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 %
Arrhythmogenic right ventricular cardiomyopathy - full panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).

RYR2, TMEM43, DSC2, DSG2, DSP, JUP, PKP2
Specificity
15 %
Genes
100 %
Arrhythmogenic right ventricular cardiomyopathy - familial variant analysis.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).

RYR2, TMEM43, DSC2, DSG2, DSP, JUP, PKP2
Specificity
15 %
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 %
Arrhythmogenic Right Ventricular Cardiomyopathy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RYR2, TGFB3, TTN, TMEM43, DSC2, DSG2, DSP, JUP, LMNA, MYBPC3, MYH7, PKP2
Specificity
9 %
Genes
100 %
Arrhymogenic Right Ventricular Cardiomyopathy Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RYR2, TGFB3, TTN, LDB3, DES, TMEM43, DSC2, DSG2, DSP, JUP, LMNA, PKP2, PLN
Specificity
8 %
Genes
100 %

We have 139 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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