Description
This is an arrhythmia superpanel composed of the Brugada, Long QT, CPVT, Short QT, AF, VF and Cardiac conduction diseaes panels.

110 Entities

110 reviewed, 41 green

List Entity Reviews Mode of inheritance Details
110 Entitiess
Green Green List (high evidence)
CACNA1C
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Long QT syndrome 8, MIM# 618447
  • Timothy syndrome, MIM# 601005
Tags
Green Green List (high evidence)
CALM1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Long QT syndrome 14, MIM# 616247
Tags
Green Green List (high evidence)
CALM1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Long QT syndrome 14 616247
  • Ventricular tachycardia, catecholaminergic polymorphic, 4 614916
Tags
Green Green List (high evidence)
CALM2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Long QT syndrome 15 616249
  • sudden unexplained death
  • idopathic VF
Tags
Green Green List (high evidence)
CALM2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Disease associations
  • Long QT syndrome 15, MIM# 616249
Tags
Green Green List (high evidence)
CALM3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Disease associations
  • Long QT syndrome 16, MIM# 618782
Tags
Green Green List (high evidence)
CASQ2
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938
Tags
  • treatable
Green Green List (high evidence)
DES
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Disease associations
  • heart conduction disease MONDO:0000992
Tags
Green Green List (high evidence)
DES
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Disease associations
  • Arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587
Tags
  • for review
Green 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
Disease associations
  • Arrhythmogenic right ventricular dysplasia 11, MIM# 610476
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476
Tags
Green Green List (high evidence)
DSG2
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Arrhythmogenic right ventricular dysplasia 10, MIM# 610193
Tags
Green Green List (high evidence)
DSP
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Arrhythmogenic right ventricular dysplasia 8, MIM# 607450
  • Carvajal syndrome
Tags
Green Green List (high evidence)
EMD
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Disease associations
  • heart conduction disease MONDO:0000992
Tags
Green Green List (high evidence)
FLNC
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Disease associations
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
Green Green List (high evidence)
GLA
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Disease associations
  • Fabry disease MONDO:0010526
Tags
Green Green List (high evidence)
HCN4
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Sick sinus syndrome MONDO:0001823
Tags
Green Green List (high evidence)
JUP
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Arrhythmogenic right ventricular dysplasia 12 MIM# 611528
  • Naxos disease MIM# 601214
Tags
Green Green List (high evidence)
KCNH2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • long QT syndrome
Tags
Green Green List (high evidence)
KCNH2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Short QT syndrome
Tags
Green Green List (high evidence)
KCNJ2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Short QT syndrome
Tags
Green Green List (high evidence)
KCNJ2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • long QT syndrome
  • Andersen-Tawil syndrome
Tags
Green Green List (high evidence)
KCNQ1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Short QT syndrome 1
  • bradycardia
  • atrial fibrillation
Tags
Green Green List (high evidence)
KCNQ1
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
Disease associations
  • Atrial fibrillation, familial, 3 607554
  • Jervell and Lange-Nielsen syndrome 220400
  • Long QT syndrome 1, 192500
  • Short QT syndrome 2 609621
Tags
Green Green List (high evidence)
LAMP2
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
Disease associations
  • Danon disease MONDO:0010281
Tags
Green Green List (high evidence)
LMNA
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Disease associations
  • atrioventricular block MONDO:0000465
Tags
Green Green List (high evidence)
NKX2-5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Disease associations
  • NKX2.5-related congenital, conduction and myopathic heart disease MONDO:0800441
Tags
Green Green List (high evidence)
PKP2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Arrhythmogenic right ventricular dysplasia 9, MIM# 609040
Tags
Green Green List (high evidence)
POPDC2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Other
Disease associations
  • Cardiac conduction disease with or without cardiomyopathy 2, MIM# 621367
Tags
Green Green List (high evidence)
PRKAG2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Disease associations
  • PRKAG2-related cardiomyopathy MONDO:0800484
Tags
Green Green List (high evidence)
RYR2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Ventricular tachycardia, catecholaminergic polymorphic, 1 604772
Tags
Green Green List (high evidence)
SCN5A
4 reviews
3 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Disease associations
  • progressive familial heart block MONDO:0019490
  • SCN5A-related cardiac rhythm disorder MONDO:1010181
  • Multifocal ectopic Purkinje-related premature contractions (MEPPC) syndrome
Tags
Green Green List (high evidence)
SCN5A
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Long QT syndrome 3 (MIM#603830)
  • Multifocal ectopic Purkinje-related premature contractions (MEPPC) syndrome
  • SCN5A-related cardiac rhythm disorder MONDO:1010181
Tags
Green Green List (high evidence)
SCN5A
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • SCN5A-related cardiac rhythm disorder MONDO:1010181
  • Brugada syndrome
  • Multifocal ectopic Purkinje-related premature contractions (MEPPC) syndrome
Tags
Green Green List (high evidence)
SLC4A3
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Short QT syndrome 7, MIM#620231
Tags
Green Green List (high evidence)
TBX5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Disease associations
  • Holt-Oram syndrome MONDO:0007732
Tags
Green Green List (high evidence)
TECRL
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021
Tags
Green Green List (high evidence)
TMEM43
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Arrhythmogenic right ventricular dysplasia 5, MIM# 604400
Tags
  • founder
Green Green List (high evidence)
TNNI3K
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Disease associations
  • atrial conduction disease MONDO:0014500
Tags
Green Green List (high evidence)
TRDN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Disease associations
  • Long QT syndrome
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441
Tags
Green Green List (high evidence)
TRDN
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Triadin knockout syndrome
  • CPVT
  • atypical LQTS phenotype
Tags
Green Green List (high evidence)
TTR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Disease associations
  • Hereditary amyloidosis MONDO:0018634
Tags
Amber Amber List (moderate evidence)
CALM3
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • Ventricular tachycardia, catecholaminergic polymorphic 6, MIM# 618782
Tags
Amber Amber List (moderate evidence)
CAV3
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • Long QT syndrome 9, MIM# 611818
Tags
Amber Amber List (moderate evidence)
CDH2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Disease associations
  • Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920
Tags
Amber Amber List (moderate evidence)
CLCA2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Disease associations
  • heart conduction disease MONDO:0000992
Tags
Amber Amber List (moderate evidence)
CTNNA3
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Disease associations
  • Arrhythmogenic right ventricular cardiomyopathy
  • Arrhythmogenic right ventricular dysplasia, familial, 13 MIM#615616
Tags
Amber Amber List (moderate evidence)
GJA5
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • Atrial fibrillation, familial, 11, OMIM# 614049
Tags
Amber Amber List (moderate evidence)
GJA5
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Disease associations
  • heart conduction disease MONDO:0000992
Tags
Amber Amber List (moderate evidence)
GJC1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Literature
Disease associations
  • atrioventricular block MONDO:0000465, GJC1-related
Tags
Amber Amber List (moderate evidence)
KBTBD13
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Intrinsic cardiomyopathy MONDO:0000591
Tags
Amber Amber List (moderate evidence)
KCNA5
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • Atrial fibrillation, familial, 7, MIM# 612240
Tags
Amber Amber List (moderate evidence)
KCNE1
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • Jervell and Lange-Nielsen syndrome 2, MIM# 612347
  • Long QT syndrome 5, MIM# 613695
  • Acquired LQTS
Tags
Amber Amber List (moderate evidence)
LEMD2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587
Tags
  • founder
Amber Amber List (moderate evidence)
LMNA
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Disease associations
  • Cardiomyopathy, dilated, 1A, MIM# 115200
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
Amber Amber List (moderate evidence)
MYL4
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • atrial fibrillation, familial, 18 MONDO:0015001
Tags
Amber Amber List (moderate evidence)
NPPA
3 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • Atrial fibrillation, familial, 6, (MIM#612201)
Tags
Amber Amber List (moderate evidence)
PLN
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Disease associations
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
  • founder
Amber Amber List (moderate evidence)
SCN1B
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Disease associations
  • Heart conduction disease MONDO:0000992
Tags
Amber Amber List (moderate evidence)
TAX1BP3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Familial cardiomyopathy, MONDO:0005217, TAX1BP3-related
  • arrhythmogenic cardiomyopathy
Tags
Amber Amber List (moderate evidence)
TRPM4
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Disease associations
  • progressive familial heart block type IB MONDO:0011474
Tags
Red Red List (low evidence)
ABCC9
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Disease associations
  • Brugada syndrome, MONDO:0015263
Tags
  • disputed
Red Red List (low evidence)
AKAP9
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • long QT syndrome
Tags
  • disputed
Red Red List (low evidence)
ALG10B
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • ClinGen
Disease associations
  • long QT syndrome MONDO:0002442
Tags
Red Red List (low evidence)
ANK2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Long QT syndrome 4, MIM# 600919
Tags
  • disputed
Red Red List (low evidence)
ANK2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Disease associations
  • Catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Tags
  • disputed
Red Red List (low evidence)
ANK2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Disease associations
  • Brugada syndrome, MONDO:0015263
Tags
  • disputed
Red Red List (low evidence)
CACNA1C
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Disease associations
  • Short QT syndrome
Tags
  • disputed
Red Red List (low evidence)
CACNA1C
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
  • disputed
Red Red List (low evidence)
CACNA2D1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Disease associations
  • Short QT syndrome
Tags
  • disputed
Red Red List (low evidence)
CACNA2D1
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Brugada syndrome 1, MONDO:0011001
Tags
  • disputed
Red Red List (low evidence)
CACNB2
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
  • disputed
Red Red List (low evidence)
CACNB2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Disease associations
  • Short QT syndrome 1
Tags
  • disputed
Red Red List (low evidence)
CORIN
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Disease associations
  • ?Cardiomyopathy, familial hypertrophic, 30, atrial (MIM:620734)
Tags
Red Red List (low evidence)
FGF12
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
Disease associations
  • Brugada syndrome MONDO:0015263
Tags
Red Red List (low evidence)
GNB2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
  • Expert list
Disease associations
  • Sick sinus syndrome 4, MIM# 619464
Tags
Red Red List (low evidence)
GPD1L
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Brugada syndrome 2, MIM# 611777
Tags
  • disputed
Red Red List (low evidence)
HCN4
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Disease associations
  • Brugada syndrome, MONDO:0015263
Tags
  • disputed
Red Red List (low evidence)
KCND3
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Brugada syndrome
Tags
  • disputed
Red Red List (low evidence)
KCNE2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Long QT syndrome
Tags
  • disputed
Red Red List (low evidence)
KCNE3
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Brugada syndrome, MONDO:0015263
Tags
  • disputed
Red Red List (low evidence)
KCNE5
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • ClinGen
Disease associations
  • Brugada syndrome, MONDO:0015263
Tags
  • disputed
Red Red List (low evidence)
KCNE5
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Atrial fibrillation
Tags
Red Red List (low evidence)
KCNH2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Disease associations
  • Brugada syndrome, MONDO:0015263
Tags
  • disputed
Red Red List (low evidence)
KCNJ2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • catecholaminergic polymorphic ventricular tachycardia MONDO:0017990
Tags
  • disputed
Red Red List (low evidence)
KCNJ5
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Long QT syndrome 13, MIM# 613485
Tags
  • disputed
Red Red List (low evidence)
KCNJ8
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Brugada syndrome 1, MONDO:0011001
Tags
  • disputed
Red Red List (low evidence)
MRC2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Disease associations
  • Wolff-Parkinson-White syndrome - MONDO:0008685, MRC2-related
Tags
Red Red List (low evidence)
NNT
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Disease associations
  • left ventricular noncompaction MONDO:0018901
Tags
Red Red List (low evidence)
NUP155
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Literature
Disease associations
  • familial atrial fibrillation MONDO:0018054
Tags
Red Red List (low evidence)
PKP2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Disease associations
  • Brugada syndrome, MONDO:0015263
Tags
  • disputed
Red Red List (low evidence)
PKP2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Disease associations
  • Catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Tags
  • disputed
Red Red List (low evidence)
POPDC1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Disease associations
  • Muscular dystrophy, limb-girdle, autosomal recessive 25 616812
Tags
  • new gene name
Red Red List (low evidence)
RANGRF
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Disease associations
  • Brugada syndrome, MONDO:0015263
Tags
  • refuted
Red Red List (low evidence)
RRAD
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Disease associations
  • Brugada syndrome, MONDO:0015263, RRAD-related
Tags
Red Red List (low evidence)
RYR2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Arrhythmogenic right ventricular dysplasia 2, MIM# 600996
Tags
  • refuted
Red Red List (low evidence)
SCN10A
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Brugada syndrome
Tags
  • disputed
Red Red List (low evidence)
SCN1B
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Brugada syndrome 1, MONDO:0011001
Tags
  • disputed
Red Red List (low evidence)
SCN2B
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Disease associations
  • Brugada syndrome, MONDO:0015263
Tags
  • disputed
Red Red List (low evidence)
SCN3B
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Brugada syndrome 7 MIM#613120
Tags
  • disputed
Red Red List (low evidence)
SCN4B
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Long QT syndrome 10, MIM# 611819
Tags
  • disputed
Red Red List (low evidence)
SCN5A
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Disease associations
  • Short QT syndrome
Tags
  • disputed
Red Red List (low evidence)
SHOX2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Disease associations
  • Sinus Node Dysfunction
  • Atrial Fibrillation
Tags
Red Red List (low evidence)
SLC22A5
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Disease associations
  • Short QT syndrome
Tags
  • disputed
Red Red List (low evidence)
SLMAP
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Disease associations
  • Brugada syndrome, MONDO:0015263
Tags
  • disputed
Red Red List (low evidence)
SNTA1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Long QT syndrome 12, MIM# 612955
Tags
  • disputed
Red Red List (low evidence)
TGFB3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Arrhythmogenic right ventricular dysplasia 1, MIM# 107970
Tags
  • 5'UTR
Red Red List (low evidence)
TMEM168
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • ClinGen
Disease associations
  • Brugada syndrome MONDO:0015263
Tags
Red Red List (low evidence)
TRPM4
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Disease associations
  • Brugada syndrome, MONDO:0015263
Tags
  • disputed
Red Red List (low evidence)
TTN
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Disease associations
  • Arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587
Tags
  • disputed
No list No list
GNPTAB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Disease associations
  • Arrhythmogenic Cardiomyopathy
  • Dilated Cardiomyopathy
  • Mucolipidosis type IIIα/β
  • Mucolipidosis type II
Tags

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