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  2. Arrhythmogenic Cardiomyopathy

Arrhythmogenic Cardiomyopathy (Version 0.68)

Level 2: Cardiovascular disorders

Relevant disorders: Arrhythmia, HP:0011675;Cardiomyopathy, HP:0001638
Panel types: Victorian Clinical Genetics Services, Rare Disease
Description
This panel was developed and is maintained by VCGS.

The panel has been compared against the Genomics England PanelApp 'Arrhythmogenic Cardiomyopathy' panel and against the current gene-disease curations by the ClinGen ARVC group, 03/08/2020.
Panel Activity

6 reviewers

  • Ivan Macciocca (Victorian Clinical Genetics Services)

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Seb Lunke (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

17 Entities

17 reviewed, 8 green

List Entity Reviews Mode of inheritance Details
17 Entitiess
Green List (high evidence)
DES
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, dilated, 1I, MIM# 604765
  • Myopathy, myofibrillar, 1 , MIM#601419
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
  • for review
Green List (high evidence)
DSC2
2 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 11, MIM# 610476
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476
Tags
Green List (high evidence)
DSG2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 10, MIM# 610193
Tags
Green List (high evidence)
DSP
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 8, MIM# 607450
  • Carvajal syndrome
Tags
Green List (high evidence)
FLNC
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
Green List (high evidence)
JUP
3 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 12 MIM# 611528
  • Naxos disease MIM# 601214
Tags
Green List (high evidence)
PKP2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 9, MIM# 609040
Tags
Green List (high evidence)
TMEM43
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 5, MIM# 604400
Tags
  • founder
Amber List (moderate evidence)
CDH2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920
Tags
Amber List (moderate evidence)
CTNNA3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Arrhythmogenic right ventricular cardiomyopathy
  • Arrhythmogenic right ventricular dysplasia, familial, 13 MIM#615616
Tags
Amber List (moderate evidence)
KBTBD13
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intrinsic cardiomyopathy MONDO:0000591
Tags
Amber List (moderate evidence)
LEMD2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587
Tags
  • founder
Amber List (moderate evidence)
LMNA
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Cardiomyopathy, dilated, 1A, MIM# 115200
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
Amber List (moderate evidence)
PLN
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
  • founder
Red List (low evidence)
BVES
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 25 616812
Tags
Red List (low evidence)
RYR2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 2, MIM# 600996
Tags
  • refuted
Red List (low evidence)
TGFB3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 1, MIM# 107970
Tags
  • 5'UTR

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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