Arrhythmia_SuperPanel (Version 3.25)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 73 Entitiess
Green List (high evidence)	CACNA1C Long QT Syndrome v0.61	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Long QT syndrome 8, MIM# 618447 Timothy syndrome, MIM# 601005 Tags
Green List (high evidence)	CALM1 Long QT Syndrome v0.61	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Long QT syndrome 14, MIM# 616247 Tags
Green List (high evidence)	CALM1 Catecholaminergic Polymorphic Ventricular Tachycardia v0.35	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Long QT syndrome 14 616247 Ventricular tachycardia, catecholaminergic polymorphic, 4 614916 Tags
Green List (high evidence)	CALM2 Catecholaminergic Polymorphic Ventricular Tachycardia v0.35	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Long QT syndrome 15 616249 sudden unexplained death idopathic VF Tags
Green List (high evidence)	CALM2 Long QT Syndrome v0.61	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Long QT syndrome 15, MIM# 616249 Tags
Green List (high evidence)	CALM3 Long QT Syndrome v0.61	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Long QT syndrome 16, MIM# 618782 Tags
Green List (high evidence)	CASQ2 Catecholaminergic Polymorphic Ventricular Tachycardia v0.35	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938 Tags treatable
Green List (high evidence)	DES Arrhythmogenic Cardiomyopathy v0.68	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Cardiomyopathy, dilated, 1I, MIM# 604765 Myopathy, myofibrillar, 1 , MIM#601419 Arrhythmogenic right ventricular cardiomyopathy Tags for review
Green List (high evidence)	DSC2 Arrhythmogenic Cardiomyopathy v0.68	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 Arrhythmogenic Cardiomyopathy v0.68	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 Arrhythmogenic Cardiomyopathy v0.68	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 Arrhythmogenic Cardiomyopathy v0.68	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Arrhythmogenic right ventricular cardiomyopathy Tags
Green List (high evidence)	HCN4 Sick sinus syndrome v1.4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sick sinus syndrome 2, MIM# 163800 Tags
Green List (high evidence)	JUP Arrhythmogenic Cardiomyopathy v0.68	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)	KCNH2 Long QT Syndrome v0.61	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes long QT syndrome Tags
Green List (high evidence)	KCNH2 Short QT syndrome v1.7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short QT syndrome Tags
Green List (high evidence)	KCNJ2 Long QT Syndrome v0.61	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes long QT syndrome Andersen-Tawil syndrome Tags
Green List (high evidence)	KCNJ2 Short QT syndrome v1.7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short QT syndrome Tags
Green List (high evidence)	KCNQ1 Long QT Syndrome v0.61	3 reviews 3 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 Atrial fibrillation, familial, 3 607554 Jervell and Lange-Nielsen syndrome 220400 Long QT syndrome 1, 192500 Short QT syndrome 2 609621 Tags
Green List (high evidence)	KCNQ1 Short QT syndrome v1.7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Short QT syndrome 1 bradycardia atrial fibrillation Tags
Green List (high evidence)	PKP2 Arrhythmogenic Cardiomyopathy v0.68	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)	POPDC2 Sick sinus syndrome v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Sinoatrial node disorder, MONDO:0000469, POPDC2-related Tags
Green List (high evidence)	RYR2 Catecholaminergic Polymorphic Ventricular Tachycardia v0.35	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 1 604772 Tags
Green List (high evidence)	SCN5A Sick sinus syndrome v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sick sinus syndrome 1, MIM# 608567 Tags
Green List (high evidence)	SCN5A Long QT Syndrome v0.61	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Long QT syndrome 3 (MIM#603830) Tags
Green List (high evidence)	SCN5A Ventricular Fibrillation v0.5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ventricular fibrillation, familial, 1, MIM# 603829 Tags
Green List (high evidence)	SCN5A Brugada syndrome v0.34	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Atrial fibrillation, familial, 10 Brugada syndrome 1 Cardiomyopathy, dilated, 1E Heart block, nonprogressive Heart block, progressive, type IA Long QT syndrome 3 Sick sinus syndrome 1 Ventricular fibrillation, familial, 1 {Sudden infant death syndrome, susceptibility to} Tags
Green List (high evidence)	SLC4A3 Short QT syndrome v1.7	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Short QT syndrome 7, MIM#620231 Tags
Green List (high evidence)	TECRL Catecholaminergic Polymorphic Ventricular Tachycardia v0.35	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021 Tags
Green List (high evidence)	TMEM43 Arrhythmogenic Cardiomyopathy v0.68	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
Green List (high evidence)	TRDN Long QT Syndrome v0.61	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Long QT syndrome Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441 Tags
Green List (high evidence)	TRDN Catecholaminergic Polymorphic Ventricular Tachycardia v0.35	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Triadin knockout syndrome CPVT atypical LQTS phenotype Tags
Amber List (moderate evidence)	CALM3 Catecholaminergic Polymorphic Ventricular Tachycardia v0.35	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Ventricular tachycardia, catecholaminergic polymorphic 6, MIM# 618782 Tags
Amber List (moderate evidence)	CAV3 Long QT Syndrome v0.61	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Long QT syndrome 9, MIM# 611818 Tags
Amber List (moderate evidence)	CDH2 Arrhythmogenic Cardiomyopathy v0.68	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920 Tags
Amber List (moderate evidence)	CTNNA3 Arrhythmogenic Cardiomyopathy v0.68	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)	GJA5 Atrial Fibrillation v1.2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Atrial fibrillation, familial, 11, OMIM# 614049 Tags
Amber List (moderate evidence)	KBTBD13 Arrhythmogenic Cardiomyopathy v0.68	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intrinsic cardiomyopathy MONDO:0000591 Tags
Amber List (moderate evidence)	KCNA5 Atrial Fibrillation v1.2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Atrial fibrillation, familial, 7, MIM# 612240 Tags
Amber List (moderate evidence)	KCNE1 Long QT Syndrome v0.61	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Jervell and Lange-Nielsen syndrome 2, MIM# 612347 Long QT syndrome 5, MIM# 613695 Acquired LQTS Tags
Amber List (moderate evidence)	KCNE2 Long QT Syndrome v0.61	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Long QT syndrome Tags
Amber List (moderate evidence)	LEMD2 Arrhythmogenic Cardiomyopathy v0.68	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 Arrhythmogenic Cardiomyopathy v0.68	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Cardiomyopathy, dilated, 1A, MIM# 115200 Arrhythmogenic right ventricular cardiomyopathy Tags
Amber List (moderate evidence)	NPPA Atrial Fibrillation v1.2	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Atrial fibrillation, familial, 6, (MIM#612201) Tags
Amber List (moderate evidence)	PLN Arrhythmogenic Cardiomyopathy v0.68	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Arrhythmogenic right ventricular cardiomyopathy Tags founder
Red List (low evidence)	AKAP9 Long QT Syndrome v0.61	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes long QT syndrome Tags disputed
Red List (low evidence)	ANK2 Long QT Syndrome v0.61	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Long QT syndrome 4, MIM# 600919 Tags disputed
Red List (low evidence)	BVES Arrhythmogenic Cardiomyopathy v0.68	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)	CACNA1C Brugada syndrome v0.34	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags disputed
Red List (low evidence)	CACNA1C Short QT syndrome v1.7	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Phenotypes Short QT syndrome Tags disputed
Red List (low evidence)	CACNA2D1 Brugada syndrome v0.34	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags disputed
Red List (low evidence)	CACNA2D1 Short QT syndrome v1.7	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Phenotypes Short QT syndrome Tags disputed
Red List (low evidence)	CACNB2 Brugada syndrome v0.34	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags disputed
Red List (low evidence)	CACNB2 Short QT syndrome v1.7	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Phenotypes Short QT syndrome 1 Tags disputed
Red List (low evidence)	CORIN Atrial Fibrillation v1.2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes ?Cardiomyopathy, familial hypertrophic, 30, atrial (MIM:620734) Tags
Red List (low evidence)	GNB2 Sick sinus syndrome v1.4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Sick sinus syndrome 4, MIM# 619464 Tags
Red List (low evidence)	GPD1L Brugada syndrome v0.34	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Brugada syndrome 2, MIM# 611777 Tags disputed
Red List (low evidence)	KCND3 Brugada syndrome v0.34	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Brugada syndrome Tags disputed
Red List (low evidence)	KCNE3 Brugada syndrome v0.34	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags disputed
Red List (low evidence)	KCNE5 Atrial Fibrillation v1.2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Atrial fibrillation Tags
Red List (low evidence)	KCNJ2 Catecholaminergic Polymorphic Ventricular Tachycardia v0.35	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 Tags
Red List (low evidence)	KCNJ5 Long QT Syndrome v0.61	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Long QT syndrome 13, MIM# 613485 Tags disputed
Red List (low evidence)	KCNJ8 Brugada syndrome v0.34	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Brugada syndrome Tags disputed
Red List (low evidence)	RYR2 Arrhythmogenic Cardiomyopathy v0.68	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)	SCN10A Brugada syndrome v0.34	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Brugada syndrome Tags disputed
Red List (low evidence)	SCN1B Brugada syndrome v0.34	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags disputed
Red List (low evidence)	SCN3B Brugada syndrome v0.34	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Brugada syndrome 7 MIM#613120 Tags disputed
Red List (low evidence)	SCN4B Long QT Syndrome v0.61	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Long QT syndrome 10, MIM# 611819 Tags disputed
Red List (low evidence)	SCN5A Short QT syndrome v1.7	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Phenotypes Short QT syndrome Tags disputed
Red List (low evidence)	SHOX2 Atrial Fibrillation v1.2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Phenotypes Sinus Node Dysfunction Atrial Fibrillation Tags
Red List (low evidence)	SLC22A5 Short QT syndrome v1.7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Phenotypes Short QT syndrome Tags disputed
Red List (low evidence)	SNTA1 Long QT Syndrome v0.61	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Long QT syndrome 12, MIM# 612955 Tags disputed
Red List (low evidence)	TGFB3 Arrhythmogenic Cardiomyopathy v0.68	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

Arrhythmia_SuperPanel (Version 3.25)

73 Entities

73 reviewed, 32 green

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