Description
This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service. The panel will routinely be applied for clinical indication 'R138 Molecular autopsy' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R138 Molecular autopsy'. R425 represents a pilot project and is therefore not part of the NHS National Genomic Test Directory. Any queries can be directed to the NHS test evaluation team [email protected].

This panel is a super panel composed of the constituent panel(s) as defined in the link(s) above. Changes made to the constituent panel(s) will automatically be updated in the super panel and the version will be updated.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This comprised of:
- The Long QT syndrome gene panel version 3.1 (https://panelapp.genomicsengland.co.uk/api/v1/panels/76/?version=3.1)
- The Catecholaminergic polymorphic VT gene panel version 4.0
(https://panelapp.genomicsengland.co.uk/api/v1/panels/214/?version=4.0)
- The Arrhythmogenic right ventricular cardiomyopathy gene panel version 3.5
(https://panelapp.genomicsengland.co.uk/api/v1/panels/134/?version=3.5)
- The Brugada syndrome and cardiac sodium channel disease gene panel version 3.2
(https://panelapp.genomicsengland.co.uk/api/v1/panels/13/?version=3.2)
- The Hypertrophic cardiomyopathy gene panel version 4.0
(https://panelapp.genomicsengland.co.uk/api/v1/panels/49/?version=4.0)
- The Short QT syndrome gene panel version 3.1
(https://panelapp.genomicsengland.co.uk/api/v1/panels/224/?version=3.1)
- The Dilated and arrhythmogenic cardiomyopathy gene panel version 2.8
(https://panelapp.genomicsengland.co.uk/api/v1/panels/652/?version=2.8)
- The Progressive cardiac conduction disease gene panel version 2.2
(https://panelapp.genomicsengland.co.uk/api/v1/panels/506/?version=2.2)

The constituent panels will continue to be curated based on external reviews and Genomics England curation. New changes to constituent panels will be reflected in an increase to the minor version of the panel and details of these can be viewed on each constituent panel 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

One or more of the constituent panels of this super panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

277 Entities

275 reviewed, 96 green

List Entity Reviews Mode of inheritance Details
277 Entitiess
Green Green List (high evidence)
ACTC1
7 reviews
3 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, hypertrophic, 11 (612098)
  • Left ventricular noncompaction 4 (613424)
  • Cardiomyopathy, dilated, 1R (613424)
  • Cardiomyopathy, dilated, 1R
  • Atrial septal defect 5 (612794)
Tags
Green Green List (high evidence)
ACTC1
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 11
  • Atrial septal defect 5 (612794)
  • Left ventricular noncompaction 4 (613424)
  • Cardiomyopathy, hypertrophic, 11 (612098)
  • Cardiomyopathy, dilated, 1R (613424)
  • Hypertrophic Cardiomyopathy
Tags
Green Green List (high evidence)
ACTN2
7 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
  • London South GLH
  • Wessex and West Midlands GLH
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cardiomyopathy, dilated, 1AA, with or without LVNC 612158
  • Cardiomyopathy, hypertrophic, 23, with or without LVNC 612158
Tags
Green Green List (high evidence)
ACTN2
8 reviews
3 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • South West GLH
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158)
  • Cardiomyopathy, dilated, 1AA, with or without LVNC (612158)
  • Dilated Cardiomyopathy, Dominant
Tags
Green Green List (high evidence)
ALPK3
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Cardiomyopathy, familial hypertrophic 27, OMIM:618052
Tags
Green Green List (high evidence)
BAG3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cardiomyopathy, dilated, 1HH, 613881
  • Myopathy, myofibrillar, 6, 612954
Tags
Green Green List (high evidence)
CACNA1C
5 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
  • Timothy syndrome, OMIM:601005
  • Timothy syndrome, MONDO:0010979
  • Long QT syndrome 8, OMIM:618447
  • long qt syndrome 8, MONDO:0032756
  • Brugada syndrome 3, OMIM:611875
  • Brugada syndrome 3, MONDO:0012742
  • CACNA1C-related disorder
Tags
Green Green List (high evidence)
CACNA1C
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Timothy syndrome, OMIM:601005
  • Timothy syndrome, MONDO:0010979
  • Long QT syndrome 8, OMIM:618447
  • long qt syndrome 8, MONDO:0032756
  • Brugada syndrome 3, OMIM:611875
  • Brugada syndrome 3, MONDO:0012742
  • CACNA1C-related disorder
Tags
Green Green List (high evidence)
CACNA1C
9 reviews
4 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • West Midlands, Oxford and Wessex GLH
  • South West GLH
  • London South GLH
  • North West GLH
  • Brugada syndrome (Version 1.7)
  • UKGTN
  • Expert Review Green
  • Long QT syndrome (Version 1.5)
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Timothy syndrome, OMIM:601005
  • Timothy syndrome, MONDO:0010979
  • Long QT syndrome 8, OMIM:618447
  • long qt syndrome 8, MONDO:0032756
  • Brugada syndrome 3, OMIM:611875
  • Brugada syndrome 3, MONDO:0012742
  • Short QT
  • CACNA1C-related disorder
Tags
Green Green List (high evidence)
CALM1
6 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 4, OMIM:614916
Tags
Green Green List (high evidence)
CALM1
6 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
  • London South GLH
  • Oxford Medical Genetics Laboratory
Phenotypes
  • Long QT syndrome 14
  • Ventricular tachycardia, catecholaminergic polymorphic, 4
Tags
Green Green List (high evidence)
CALM2
6 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
  • Oxford Medical Genetics Laboratory
Phenotypes
  • Long QT syndrome 15, OMIM:616249
  • long QT syndrome 15, MONDO:0014550
Tags
Green Green List (high evidence)
CALM2
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • Expert Review Green
  • Oxford Medical Genetics Laboratory
Phenotypes
  • Long QT syndrome 15, OMIM:616249
  • long QT syndrome 15, MONDO:0014550
Tags
Green Green List (high evidence)
CALM3
6 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • South West GLH
  • Oxford Medical Genetics Laboratory
Phenotypes
  • ?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782
  • Long QT syndrome 16,618782
Tags
Green Green List (high evidence)
CALM3
5 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • South West GLH
  • London South GLH
  • Oxford Medical Genetics Laboratory
Phenotypes
  • ?Ventricular tachycardia, catecholaminergic polymorphic 6, OMIM:618782
Tags
Green Green List (high evidence)
CASQ2
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 2, OMIM:611938
Tags
Green Green List (high evidence)
CDH2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
CSRP3
8 reviews
5 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, hypertrophic, 12 (612124)
  • ?Cardiomyopathy, dilated, 1M (607482)
  • Cardiomyopathy, familial hypertrophic, 12
Tags
Green Green List (high evidence)
DES
8 reviews
3 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • Expert Review Green
  • UKGTN
  • Expert list
Phenotypes
  • Cardiomyopathy, dilated, 1I (604765)
  • Myopathy, myofibrillar, 1 (601419)
  • Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
Tags
Green Green List (high evidence)
DES
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
  • Expert list
Phenotypes
  • Desminopathy-associated AV conduction block
  • atrioventricular block (disease), MONDO:0000465
Tags
Green Green List (high evidence)
DES
8 reviews
4 green 2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
  • Myopathy, myofibrillar, 1 (601419)
  • Cardiomyopathy, dilated, 1I, (604765)
  • Cardiomyopathy, dilated, 1I,
Tags
Green Green List (high evidence)
DMD
2 reviews
2 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
  • Literature
  • NHS GMS
Phenotypes
  • Becker muscular dystrophy, 300376
  • Cardiomyopathy, dilated, 3B, 302045
  • Duchenne muscular dystrophy, 310200
Tags
  • Skewed X-inactivation
Green Green List (high evidence)
DOLK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
DSC2
7 reviews
6 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476)
  • Arrhythmogenic right ventricular dysplasia 11
  • Arrhythmogenic right ventricular dysplasia 11 (610476)
Tags
Green Green List (high evidence)
DSC2
7 reviews
6 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 11
  • Arrhythmogenic right ventricular dysplasia 11 (610476)
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476)
Tags
Green Green List (high evidence)
DSG2
7 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1BB (612877)
  • Arrhythmogenic right ventricular dysplasia 10
  • Arrhythmogenic right ventricular dysplasia 10 (610193)
Tags
Green Green List (high evidence)
DSG2
7 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 10
  • Arrhythmogenic right ventricular dysplasia 10 (610193)
  • Cardiomyopathy, dilated, 1BB (612877)
Tags
Green Green List (high evidence)
DSP
8 reviews
6 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR)
  • Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD)
  • Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD)
Tags
Green Green List (high evidence)
DSP
8 reviews
6 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD)
  • Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR)
  • Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD)
Tags
Green Green List (high evidence)
EMD
4 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Heart conduction disease, MONDO:0000992
Tags
Green Green List (high evidence)
EMD
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
FHL1
7 reviews
5 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • UKGTN
Phenotypes
  • Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718)
  • Myopathy, X-linked, with postural muscle atrophy (300696)
  • ?Uruguay faciocardiomusculoskeletal syndrome (300280)
  • Scapuloperoneal myopathy, X-linked dominant (300695)
  • Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717)
  • Emery-Dreifuss muscular dystrophy 6, X-linked (300696)
Tags
Green Green List (high evidence)
FHOD3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypertrophic cardiomyopathy, MONDO:0005045
Tags
Green Green List (high evidence)
FLNC
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 26, OMIM:617047
  • Cardiomyopathy, familial restrictive 5, OMIM:617047
  • Hypertrophic cardiomyopathy 26, MONDO:0014883
Tags
Green Green List (high evidence)
FLNC
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 26, OMIM:617047
  • Cardiomyopathy, familial restrictive 5, OMIM:617047
  • Hypertrophic cardiomyopathy 26, MONDO:0014883
  • Myopathy, myofibrillar, 5, OMIM:609524
  • Myopathy, myofibrillar, 5, MONDO:0012289
Tags
Green Green List (high evidence)
FLNC
7 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
  • Wessex and West Midlands GLH
  • Oxford Medical Genetics Laboratory
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 26, OMIM:617047
  • Cardiomyopathy, familial restrictive 5, OMIM:617047
  • Hypertrophic cardiomyopathy 26, MONDO:0014883
Tags
Green Green List (high evidence)
GLA
2 reviews
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
Phenotypes
  • Fabry disease, cardiac variant, OMIM:301500
Tags
Green Green List (high evidence)
GLA
7 reviews
5 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Fabry disease (301500)
  • syndromic HCM
  • Fabry disease, cardiac variant (301500)
Tags
Green Green List (high evidence)
HCN4
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Sick sinus syndrome 2, OMIM:163800
Tags
Green Green List (high evidence)
JUP
7 reviews
6 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Naxos disease, OMIM:601214
  • Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
Tags
Green Green List (high evidence)
JUP
7 reviews
6 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Naxos disease, OMIM:601214
  • Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
Tags
Green Green List (high evidence)
KCNE1
10 reviews
6 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Jervell and Lange-Nielsen syndrome 2, OMIM:612347
  • Long QT syndrome 5, OMIM:613695
Tags
Green Green List (high evidence)
KCNH2
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Short QT syndrome 1 (609620)
  • Long QT syndrome-2
  • Long QT syndrome-2 (613688)
Tags
Green Green List (high evidence)
KCNH2
7 reviews
5 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • West Midlands, Oxford and Wessex GLH
  • South West GLH
  • London South GLH
  • North West GLH
  • Long QT syndrome (Version 1.5)
  • Brugada syndrome (Version 1.7)
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Literature
Phenotypes
  • Brugada
  • Short QT syndrome 1 (609620)
  • ventricular fibrillation
  • cardiac arrest
  • Short QT syndrome 1 609620
  • Long QT syndrome-2 (613688)
  • short qt
  • atrial fibrillation
Tags
Green Green List (high evidence)
KCNJ2
7 reviews
4 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • West Midlands, Oxford and Wessex GLH
  • South West GLH
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Long QT syndrome (Version 1.5)
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Short QT syndrome 3, OMIM:609622
  • Short QT syndrome type 3, MONDO:0012314
  • Atrial fibrillation, familial, 9, OMIM:613980
  • Atrial fibrillation, familial, 9, MONDO:0013513
  • Andersen syndrome, OMIM:170390
  • Andersen-Tawil syndrome, MONDO:0008222
Tags
Green Green List (high evidence)
KCNJ2
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Short QT syndrome 3, OMIM:609622
  • Short QT syndrome type 3, MONDO:0012314
  • Atrial fibrillation, familial, 9, OMIM:613980
  • Atrial fibrillation, familial, 9, MONDO:0013513
  • Andersen syndrome, OMIM:170390
  • Andersen-Tawil syndrome, MONDO:0008222
Tags
Green Green List (high evidence)
KCNQ1
8 reviews
6 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Jervell and Lange-Nielsen syndrome (220400)
  • Atrial fibrillation, familial, 3 (607554)
  • Long QT syndrome-1 (192500)
  • Long QT syndrome-1
  • Short QT syndrome 2 (609621)
Tags
Green Green List (high evidence)
KCNQ1
9 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • West Midlands, Oxford and Wessex GLH
  • Expert Review Green
  • South West GLH
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Long QT syndrome (Version 1.5)
  • Emory Genetics Laboratory
  • Other
Phenotypes
  • Short QT syndrome 2, OMIM:609621
  • Long QT syndrome-1, OMIM:192500
  • Atrial fibrillation, familial, 3, OMIM:607554
Tags
Green Green List (high evidence)
LAMP2
2 reviews
2 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
  • Literature
Phenotypes
  • Danon disease (300257)
Tags
Green Green List (high evidence)
LAMP2
7 reviews
5 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Danon disease (300257)
  • syndromic HCM
Tags
Green Green List (high evidence)
LAMP2
2 reviews
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
Phenotypes
  • Danon disease, 300257
Tags
Green Green List (high evidence)
LMNA
6 reviews
2 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
  • London South GLH
  • UKGTN
  • Expert list
Phenotypes
  • LMNA-related DCM
Tags
Green Green List (high evidence)
LMNA
8 reviews
5 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Muscular dystrophy, congenital (613205)
  • Malouf syndrome (212112)
  • Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350)
  • Heart-hand syndrome, Slovenian type (610140)
  • Hutchinson-Gilford progeria (176670)
  • Cardiomyopathy, dilated, 1A (115200)
  • Restrictive dermopathy, lethal (275210)
  • Lipodystrophy, familial partial, type 2 (151660)
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516)
  • Charcot-Marie-Tooth disease, type 2B1 (605588)
  • Mandibuloacral dysplasia (248370)
  • Cardiomyopathy, dilated, 1A
Tags
Green Green List (high evidence)
LMNA
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
  • London South GLH
  • Expert list
Phenotypes
  • Laminopathy-associated AV conduction block
  • atrioventricular block (disease), MONDO:0000465
Tags
Green Green List (high evidence)
MYBPC3
7 reviews
2 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1MM
  • Cardiomyopathy, hypertrophic, 4 (115197)
  • Left ventricular noncompaction 10 (615396)
  • Cardiomyopathy, dilated, 1MM (615396)
Tags
Green Green List (high evidence)
MYBPC3
7 reviews
5 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 4,
  • Cardiomyopathy, hypertrophic, 4 (115197)
  • Left ventricular noncompaction 10 (615396)
  • Cardiomyopathy, dilated, 1MM (615396)
Tags
Green Green List (high evidence)
MYH7
8 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1S, OMIM:613426
  • Dilated cardiomyopathy 1S, MONDO:0013262
  • Laing distal myopathy, OMIM:160500
  • Laing early-onset distal myopathy, MONDO:0008050
Tags
  • watchlist_moi
Green Green List (high evidence)
MYH7
8 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cardiomyopathy, hypertrophic, 1, OMIM:192600
  • Hypertrophic cardiomyopathy 1, MONDO:0008647
Tags
  • watchlist_moi
Green Green List (high evidence)
MYL2
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 10
  • Cardiomyopathy, familial hypertrophic, 10 (608758)
Tags
Green Green List (high evidence)
MYL3
7 reviews
5 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 8,
  • Cardiomyopathy, familial hypertrophic, 8 (608751)
Tags
Green Green List (high evidence)
NEXN
8 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1CC, OMIM:613122
Tags
Green Green List (high evidence)
NKX2-5
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
  • London South GLH
Phenotypes
  • Atrial septal defect 7, with or without AV conduction defects OMIM:108900
Tags
Green Green List (high evidence)
NKX2-5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
PKP2
7 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 9 (609040)
  • Arrhythmogenic right ventricular cardiomyopathy
  • Arrhythmogenic right ventricular dysplasia 9
Tags
Green Green List (high evidence)
PKP2
7 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Arrhythmogenic right ventricular cardiomyopathy
  • Arrhythmogenic right ventricular dysplasia 9
  • Arrhythmogenic right ventricular dysplasia 9 (609040)
Tags
Green Green List (high evidence)
PLN
8 reviews
5 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1P (609909)
  • Cardiomyopathy, dilated, 1P
  • Cardiomyopathy, hypertrophic, 18 (613874)
Tags
Green Green List (high evidence)
PLN
8 reviews
4 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
  • London South GLH
  • Wessex and West Midlands GLH
  • Expert list
Phenotypes
  • Cardiomyopathy, dilated, 1P (609909)
  • Cardiomyopathy, hypertrophic, 18 (613874)
Tags
  • founder-effect
Green Green List (high evidence)
PLN
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 18,
  • Cardiomyopathy, dilated, 1P (609909)
  • Cardiomyopathy, hypertrophic, 18 (613874)
Tags
Green Green List (high evidence)
PRKAG2
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Wolff-Parkinson-White syndrome (194200)
  • syndromic HCM
  • Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
  • Cardiomyopathy, familial hypertrophic 6,
  • Cardiomyopathy, familial hypertrophic 6 (600858)
  • Glycogen storage disease of heart, lethal congenital (261740)
Tags
Green Green List (high evidence)
PRKAG2
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • Expert list
Phenotypes
  • Wolff-Parkinson-White syndrome, OMIM:194200
Tags
Green Green List (high evidence)
RBM20
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1DD
  • Cardiomyopathy, dilated, 1DD (613172)
Tags
Green Green List (high evidence)
RYR2
7 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 1, OMIM:604772
Tags
Green Green List (high evidence)
RYR2
10 reviews
4 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert List
  • South West GLH
  • London South GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 2
  • Arrhythmogenic right ventricular dysplasia 2 (600996)
  • Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
Tags
Green Green List (high evidence)
SCN5A
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1E
Tags
Green Green List (high evidence)
SCN5A
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
  • London South GLH
  • Wessex and West Midlands GLH
  • Expert list
Phenotypes
  • Heart block, progressive, OMIM:113900
  • Heart block, progressive, type IA, OMIM:113900
Tags
Green Green List (high evidence)
SCN5A
7 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Brugada syndrome 1, 601144
  • Brugada syndrome 1, MONDO:0011001
Tags
Green Green List (high evidence)
SCN5A
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ventricular fibrillation, familial, 1 (603829)
  • Brugada syndrome 1 (601144)
  • Heart block, nonprogressive (113900)
  • Heart block, progressive, type IA (113900)
  • {Sudden infant death syndrome, susceptibility to} (272120)
  • Sick sinus syndrome 1 (608567)
  • Long QT syndrome-3
  • Long QT syndrome-3 (603830)
  • Cardiomyopathy, dilated, 1E (601154)
  • Atrial fibrillation, familial, 10 (614022)
Tags
Green Green List (high evidence)
TECRL
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • South West GLH
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 3, OMIM:614021
Tags
Green Green List (high evidence)
TMEM43
7 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 5 (604400)
  • Arrhythmogenic right ventricular dysplasia 5
  • Emery-Dreifuss muscular dystrophy 7, AD (614302)
Tags
Green Green List (high evidence)
TMEM43
7 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 5
  • Arrhythmogenic right ventricular dysplasia 5 (604400)
  • Emery-Dreifuss muscular dystrophy 7, AD (614302)
Tags
Green Green List (high evidence)
TNNC1
7 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 13,
  • Cardiomyopathy, dilated, 1Z (611879)
  • Cardiomyopathy, hypertrophic, 13 (613243)
Tags
Green Green List (high evidence)
TNNC1
7 reviews
3 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, hypertrophic, 13 (613243)
  • Cardiomyopathy, dilated, 1Z
  • Cardiomyopathy, dilated, 1Z (611879)
Tags
Green Green List (high evidence)
TNNI3
7 reviews
5 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1FF (613286)
  • Cardiomyopathy, dilated, 2A,
  • ?Cardiomyopathy, dilated, 2A (611880)
  • Cardiomyopathy, familial restrictive, 1 (115210)
  • Cardiomyopathy, dilated, 1FF
  • Cardiomyopathy, hypertrophic, 7 (613690)
Tags
Green Green List (high evidence)
TNNI3
7 reviews
5 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 7
  • ?Cardiomyopathy, dilated, 2A (611880)
  • Cardiomyopathy, dilated, 1FF (613286)
  • Cardiomyopathy, familial restrictive, 1 (115210)
  • Cardiomyopathy, hypertrophic, 7 (613690)
Tags
Green Green List (high evidence)
TNNI3K
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiac conduction disease with or without dilated cardiomyopathy, OMIM:616117
Tags
Green Green List (high evidence)
TNNI3K
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
TNNT2
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1D
  • Cardiomyopathy, familial restrictive, 3 (612422)
  • Cardiomyopathy, hypertrophic, 2 (115195)
  • Cardiomyopathy, dilated, 1D (601494)
  • Left ventricular noncompaction 6 (601494)
Tags
Green Green List (high evidence)
TNNT2
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Cardiomyopathy, familial restrictive, 3 (612422)
  • Cardiomyopathy, hypertrophic, 2 (115195)
  • Cardiomyopathy, dilated, 1D (601494)
  • Cardiomyopathy, familial hypertrophic, 2
  • Left ventricular noncompaction 6 (601494)
Tags
Green Green List (high evidence)
TPM1
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1Y
  • Cardiomyopathy, dilated, 1Y (611878)
  • Cardiomyopathy, hypertrophic, 3 (115196)
  • Left ventricular noncompaction 9 ( 611878)
Tags
Green Green List (high evidence)
TPM1
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Left ventricular noncompaction 9 ( 611878)
  • Cardiomyopathy, hypertrophic, 3 (115196)
  • Cardiomyopathy, familial hypertrophic, 3
  • Cardiomyopathy, dilated, 1Y (611878)
Tags
Green Green List (high evidence)
TRDN
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, OMIM:615441
Tags
Green Green List (high evidence)
TRIM63
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy, MONDO:0005045
  • restrictive cardiomyopathy, MONDO:0005201
Tags
  • gene-checked
Green Green List (high evidence)
TTN
8 reviews
5 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Myopathy, proximal, with early respiratory muscle involvement (603689)
  • Cardiomyopathy, familial hypertrophic, 9 (613765)
  • Tibial muscular dystrophy, tardive (600334)
  • Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807)
  • Cardiomyopathy, dilated, 1G (604145)
  • Salih myopathy (611705)
  • Cardiomyopathy, dilated, 1G
Tags
Green Green List (high evidence)
TTR
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • Expert Review Green
  • Wessex and West Midlands GLH
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Cardiac amyloidosis
  • Amyloidosis, hereditary, transthyretin-related, 105210
Tags
  • treatable
Green Green List (high evidence)
TTR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Heart conduction disease, MONDO:0000992
Tags
Green Green List (high evidence)
VCL
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1W
  • Cardiomyopathy, dilated, 1W (611407)
  • Cardiomyopathy, hypertrophic, 15 (613255)
Tags
Amber Amber List (moderate evidence)
ANK2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
ANK2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
ANKRD1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
ATAD3A
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Harel-Yoon syndrome, OMIM:617183
Tags
  • watchlist
Amber Amber List (moderate evidence)
CACNA2D1
7 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • South West GLH
  • London South GLH
  • North West GLH
  • UKGTN
  • Brugada syndrome (Version 1.7)
  • Literature
Phenotypes
  • short qt
  • Brugada syndrome
  • aborted sudden death
  • Short QT syndrome 6
Tags
  • watchlist
Amber Amber List (moderate evidence)
CACNB2
7 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Amber
  • UKGTN
  • Brugada syndrome (Version 1.7)
  • Literature
Phenotypes
  • Brugada syndrome 4 (611876)
  • Short QT syndrome 5
  • brugada syndrome
  • Brugada syndrome 4 611876
  • short qt
Tags
  • watchlist
Amber Amber List (moderate evidence)
CDH2
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Arrhythmogenic right ventricular dysplasia, familial, 14, 618920
Tags
Amber Amber List (moderate evidence)
CLCA2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Heart conduction disease, MONDO:0000992
Tags
Amber Amber List (moderate evidence)
CRYAB
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cardiomyopathy, dilated, 1II, OMIM:615184
  • Myopathy, myofibrillar, 2, OMIM:608810
Tags
Amber Amber List (moderate evidence)
CSRP3
7 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • ?Cardiomyopathy, dilated, 1M (607482)
  • Cardiomyopathy, dilated, 1M
  • Cardiomyopathy, hypertrophic, 12 (612124)
Tags
Amber Amber List (moderate evidence)
FKRP
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, OMIM:607155
Tags
  • Q4_23_NHS_review
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
FKTN
7 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Wessex and West Midlands GLH
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Dilated Cardiomyopathy, Recessive
  • Cardiomyopathy, dilated, 1X
Tags
Amber Amber List (moderate evidence)
FLII
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dilated cardiomyopathy, MONDO:0005021
Tags
Amber Amber List (moderate evidence)
GATA6
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
GYG1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Glycogen storage disease XV, OMIM:613507
  • hypertrophic cardiomyopathy, MONDO:0005045
Tags
  • watchlist
Amber Amber List (moderate evidence)
JPH2
11 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
  • London South GLH
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Cardiomyopathy, hypertrophic, 17, OMIM:613873
Tags
Amber Amber List (moderate evidence)
KCNE2
10 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • South West GLH
  • London South GLH
  • North West GLH
  • Emory Genetics Laboratory
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Long QT syndrome 6 (613693)
  • Atrial fibrillation, familial, 4 (611493)
Tags
Amber Amber List (moderate evidence)
KCNH2
8 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • South West GLH
  • Expert list
Phenotypes
  • Brugada syndrome, MONDO:0015263
Tags
  • missense
Amber Amber List (moderate evidence)
LDB3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
MT-TI
4 reviews
1 green
MITOCHONDRIAL
Sources
  • Expert Review Amber
  • Wessex and West Midlands GLH
Tags
Amber Amber List (moderate evidence)
MYH6
6 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, hypertrophic, 14 (613251)
  • Cardiomyopathy, dilated, 1EE (613252)
  • {Sick sinus syndrome 3} (614090)
  • Atrial septal defect 3 (614089)
  • Cardiomyopathy, dilated, 1EE
Tags
Amber Amber List (moderate evidence)
MYLK2
6 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, hypertrophic, 1, digenic (192600)
  • Cardiomyopathy, hypertrophic, midventricular, digenic,
Tags
Amber Amber List (moderate evidence)
MYLK3
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dilated cardiomyopathy, MONDO:0005021
Tags
  • gene-checked
Amber Amber List (moderate evidence)
MYPN
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
MYPN
4 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Cardiomypathy, familial hypertrophic, 22,
Tags
Amber Amber List (moderate evidence)
NRAP
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dilated cardiomyopathy, MONDO:0005021
Tags
  • gene-checked
Amber Amber List (moderate evidence)
PPA2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Sudden cardiac failure, infantile, OMIM:617222
  • ?Sudden cardiac failure, alcohol-induced, OMIM:617223
Tags
  • Q3_23_NHS_review
  • Q3_23_promote_green
Amber Amber List (moderate evidence)
PRDM16
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
RHBDF1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Tags
  • watchlist
Amber Amber List (moderate evidence)
RPL3L
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neonatal dilated cardiomyopathy
  • dilated cardiomyopathy, MONDO:0005021
Tags
Amber Amber List (moderate evidence)
RPS6KB1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
Tags
  • Q4_22_promote_green
Amber Amber List (moderate evidence)
RRAGC
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Dilated cardiomyopathy, hepatopathy and brain abnormalities
Tags
  • Q2_23_promote_green
Amber Amber List (moderate evidence)
RRAGD
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Literature
  • Expert Review Amber
Phenotypes
  • hypomagnesaemia
  • cardiomyopathy
  • tubular renal disease-cardiomyopathy syndrome, MONDO:0019130
Tags
Amber Amber List (moderate evidence)
SCN1B
5 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • South West GLH
  • London South GLH
Phenotypes
  • Cardiac conduction defect, nonspecific, OMIM:612838
  • Brugada syndrome 5, OMIM:612838
  • Atrial fibrillation, familial, 13, OMIM:615377
Tags
Amber Amber List (moderate evidence)
SCN5A
5 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • South West GLH
  • North West GLH
  • Expert Review Amber
  • Brugada syndrome (Version 1.7)
  • Long QT syndrome (Version 1.5)
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Ventricular fibrillation, familial, 1 (603829)
  • Brugada syndrome 1 (601144)
  • {Sudden infant death syndrome, susceptibility to} (272120)
  • Brugada syndrome 1 601144
  • Heart block, progressive, type IA (113900)
  • Heart block, nonprogressive (113900)
  • Sick sinus syndrome 1 (608567)
  • Long QT syndrome-3 (603830)
  • Cardiomyopathy, dilated, 1E (601154)
  • Atrial fibrillation, familial, 10 (614022)
Tags
  • watchlist
Amber Amber List (moderate evidence)
SGCD
6 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Wessex and West Midlands GLH
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287)
  • Cardiomyopathy, dilated, 1L
  • Cardiomyopathy, dilated, 1L (606685)
Tags
Amber Amber List (moderate evidence)
SLC4A3
6 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • West Midlands, Oxford and Wessex GLH
  • South West GLH
  • Literature
Phenotypes
  • short QT
  • ventricular fibrillation
  • cardiac arrest
Tags
Amber Amber List (moderate evidence)
SLC6A6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Early retinal degeneration
  • cardiomyopathy
Tags
  • watchlist
Amber Amber List (moderate evidence)
SPEG
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dilated cardiomyopathy, MONDO:0005021
  • Centronuclear myopathy 5, OMIM:615959
Tags
Amber Amber List (moderate evidence)
TAB2
4 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London South GLH
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Congenital heart defects, nonsyndromic, 2, OMIM:614980
Tags
  • Q3_23_promote_green
Amber Amber List (moderate evidence)
TBX20
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
TBX5
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • South West GLH
  • London South GLH
Phenotypes
  • Holt-Oram syndrome, OMIM:142900
Tags
Amber Amber List (moderate evidence)
TBX5
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Holt-Oram syndrome, OMIM:142900
  • Dilated cardiomyopathy
Tags
Amber Amber List (moderate evidence)
TCAP
6 reviews
1 green 2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, hypertrophic, 25 (607487)
  • Cardiomyopathy, dilated, 1N
  • Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954)
Tags
Amber Amber List (moderate evidence)
TECRL
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021
Tags
Amber Amber List (moderate evidence)
TRDN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Long QT syndrome
Tags
Amber Amber List (moderate evidence)
TRPM4
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • Expert Review Amber
  • Wessex and West Midlands GLH
Phenotypes
  • Progressive familial heart block, type IB, OMIM:604559
Tags
Amber Amber List (moderate evidence)
TULP3
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Hepatorenocardiac degenerative fibrosis, OMIM:619902
Tags
  • Q2_23_NHS_review
  • Q2_23_promote_green
Red Red List (low evidence)
ABCC9
7 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Wessex and West Midlands GLH
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Cardiomyopathy, dilated, 1O (608569)
  • Dilated Cardiomyopathy, Dominant
  • Cardiomyopathy, dilated, 1O
  • Atrial fibrillation, familial, 12 (614050)
Tags
Red Red List (low evidence)
ABCC9
3 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Expert Review Red
  • Brugada syndrome (Version 1.7)
  • Literature
Phenotypes
  • ventricular tachycardia
  • Atrial fibrillation, familial, 12 (614050)
  • Cardiomyopathy, dilated, 1O (608569)
  • short qt
  • atrial fibrillation
Tags
Red Red List (low evidence)
ABCC9
4 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • North West GLH
  • Literature
Phenotypes
  • Brugada syndrome, MONDO:0015263
Tags
Red Red List (low evidence)
ACADVL
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
ACTA1
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
  • Dilated cardiomyopathy
Tags
Red Red List (low evidence)
ACTN2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Heart conduction disease, MONDO:0000992
Tags
Red Red List (low evidence)
AGL
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
AKAP9
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Emory Genetics Laboratory
  • Long QT syndrome (Version 1.5)
Phenotypes
  • Long QT syndrome-11 (611820)
  • ?Long QT syndrome-11 611820
Tags
Red Red List (low evidence)
AKAP9
6 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • North West GLH
  • Expert Review Red
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Long QT syndrome-11 (611820)
  • Long QT syndrome-11
Tags
Red Red List (low evidence)
ALG10
5 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Progressive myoclonus epilepsy
  • CDG
Tags
Red Red List (low evidence)
ALG10B
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • {Acquired long QT syndrome, reduced susceptibility to} OMIM:613688
Tags
Red Red List (low evidence)
ALG10B
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • {Acquired long QT syndrome, reduced susceptibility to} OMIM:613688
Tags
Red Red List (low evidence)
ANK2
6 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • North West GLH
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada syndrome, MONDO:0015263
Tags
Red Red List (low evidence)
ANK2
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • North West GLH
  • Brugada syndrome (Version 1.7)
  • Long QT syndrome (Version 1.5)
  • Emory Genetics Laboratory
Phenotypes
  • Long QT syndrome 4 (600919)
  • Long QT syndrome 4 600919
  • Cardiac arrhythmia, ankyrin-B-related (600919)
  • Cardiac arrhythmia, ankyrin-B-related 600919
Tags
Red Red List (low evidence)
ANK2
9 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
  • London South GLH
  • North West GLH
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Long QT syndrome-4
  • Cardiac arrhythmia, ankyrin-B-related (600919)
  • Long QT syndrome 4 (600919)
Tags
Red Red List (low evidence)
ANK2
3 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
Phenotypes
  • Heart conduction disease, MONDO:0000992
Tags
Red Red List (low evidence)
ANK2
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Expert Review Red
  • Expert list
Phenotypes
  • catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Tags
Red Red List (low evidence)
ANKRD1
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • Expert list
  • UKGTN
Tags
Red Red List (low evidence)
ATP5E
3 reviews
1 red
Unknown
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic HCM
Tags
  • new-gene-name
Red Red List (low evidence)
BRAF
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
CACNA1C
4 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • Expert Review Red
  • Expert list
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Brugada syndrome 3, MONDO:0012742
Tags
Red Red List (low evidence)
CACNA2D1
5 reviews
4 red
Unknown
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada syndrome, MONDO:0015263
Tags
Red Red List (low evidence)
CACNB2
5 reviews
3 red
Unknown
Sources
  • Expert Review Red
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Brugada syndrome 4 (611876)
Tags
Red Red List (low evidence)
CALM1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • North West GLH
  • Emory Genetics Laboratory
  • Long QT syndrome (Version 1.5)
Phenotypes
  • Long QT syndrome 14 (616247)
  • Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916)
Tags
Red Red List (low evidence)
CALM2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Long QT syndrome (Version 1.5)
Tags
Red Red List (low evidence)
CALM3
1 review
1 red
Not set
Sources
  • Long QT syndrome (Version 1.5)
Tags
Red Red List (low evidence)
CALR3
2 reviews
1 red
Unknown
Sources
  • South West GLH
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 19
Tags
Red Red List (low evidence)
CASQ2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
  • Left ventricular non-compaction
  • Catecholaminergic polymorphic ventricular tachycardia
Tags
Red Red List (low evidence)
CAV3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Brugada syndrome (Version 1.7)
  • Long QT syndrome (Version 1.5)
  • Emory Genetics Laboratory
Tags
Red Red List (low evidence)
CAV3
8 reviews
1 green 4 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • Expert Review Red
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Long QT syndrome-9
Tags
Red Red List (low evidence)
CAV3
4 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Cardiomyopathy, familial hypertrophic,
Tags
Red Red List (low evidence)
CAV3
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada syndrome, MONDO:0015263
Tags
Red Red List (low evidence)
CAVIN4
1 review
Unknown
Sources
  • South West GLH
Tags
Red Red List (low evidence)
COA5
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
CRYAB
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Myopathy, myofibrillar, 2, OMIM:608810
Tags
Red Red List (low evidence)
CTNNA3
3 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Arrhythmogenic right ventricular dysplasia, familial, 13,
Tags
Red Red List (low evidence)
DES
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert list
Tags
Red Red List (low evidence)
DLG1
3 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • South West GLH
  • Oxford Medical Genetics Laboratory
Phenotypes
  • Brugada syndrome, MONDO:0015263
Tags
Red Red List (low evidence)
DLG1
1 review
1 red
Not set
Sources
  • Brugada syndrome (Version 1.7)
Tags
Red Red List (low evidence)
EYA4
7 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Wessex and West Midlands GLH
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • South West GLH
  • London South GLH
  • North West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • ?Cardiomyopathy, dilated, 1J (605362)
  • Cardiomyopathy, dilated, 1J
  • Deafness, autosomal dominant 10 (601316)
Tags
Red Red List (low evidence)
FHOD3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
FLNC
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Heart conduction disease, MONDO:0000992
Tags
Red Red List (low evidence)
FOXRED1
2 reviews
1 red
Unknown
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
FXN
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert list
Phenotypes
  • Friedreich ataxia, OMIM:229300
  • Friedreich ataxia with retained reflexes, OMIM:229300
Tags
  • nucleotide-repeat-expansion
Red Red List (low evidence)
GAA
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • Expert list
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
GATAD1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
GJA5
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
Phenotypes
  • Heart conduction disease, MONDO:0000992
Tags
Red Red List (low evidence)
GLB1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
GPD1L
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Brugada syndrome (Version 1.7)
Phenotypes
  • Brugada syndrome 2 (611777)
Tags
Red Red List (low evidence)
GPD1L
5 reviews
3 red
Unknown
Sources
  • Expert Review Red
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Brugada syndrome 2, OMIM:611777
Tags
Red Red List (low evidence)
GUSB
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
HCN4
6 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Brugada syndrome 8, OMIM:613123
Tags
Red Red List (low evidence)
HCN4
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Brugada syndrome (Version 1.7)
Phenotypes
  • Sick sinus syndrome 2 (163800)
  • Brugada syndrome 8 (613123)
Tags
Red Red List (low evidence)
HRAS
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
KCND3
1 review
1 red
Not set
Sources
  • Brugada syndrome (Version 1.7)
Tags
Red Red List (low evidence)
KCND3
4 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada syndrome 9, OMIM:616399
Tags
Red Red List (low evidence)
KCNE1
2 reviews
1 green 1 red
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • North West GLH
  • Emory Genetics Laboratory
  • Long QT syndrome (Version 1.5)
Phenotypes
  • Jervell and Lange-Nielsen syndrome 2, OMIM:612347
  • Long QT syndrome 5, OMIM:613695
Tags
Red Red List (low evidence)
KCNE1
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Literature
Phenotypes
  • catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Tags
Red Red List (low evidence)
KCNE2
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • North West GLH
  • Emory Genetics Laboratory
  • Long QT syndrome (Version 1.5)
Phenotypes
  • Long QT syndrome-6 (613693)
  • Atrial fibrillation, familial, 4 (611493)
Tags
Red Red List (low evidence)
KCNE3
2 reviews
1 red
Unknown
Sources
  • South West GLH
  • Literature
Phenotypes
  • Long QT syndrome
  • Brugada syndrome
Tags
Red Red List (low evidence)
KCNE3
5 reviews
3 red
Unknown
Sources
  • Expert Review Red
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • ?Brugada syndrome 6, OMIM:613119
Tags
Red Red List (low evidence)
KCNE3
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Brugada syndrome (Version 1.7)
  • Long QT syndrome (Version 1.5)
Phenotypes
  • ?Brugada syndrome 6 (613119)
Tags
Red Red List (low evidence)
KCNE5
1 review
1 red
Not set
Sources
  • Brugada syndrome (Version 1.7)
Phenotypes
  • atrial fibrillation
  • Brugada syndrome
Tags
Red Red List (low evidence)
KCNE5
6 reviews
3 red
Unknown
Sources
  • Expert Review Red
  • South West GLH
  • Oxford Medical Genetics Laboratory
Phenotypes
  • Brugada syndrome, MONDO:0015263
Tags
Red Red List (low evidence)
KCNJ2
5 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • North West GLH
  • UKGTN
  • Expert list
Phenotypes
  • catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Tags
Red Red List (low evidence)
KCNJ5
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • North West GLH
  • Long QT syndrome (Version 1.5)
Phenotypes
  • Hyperaldosteronism, familial, type III (613677)
  • Long QT syndrome 13 (613485)
Tags
Red Red List (low evidence)
KCNJ5
9 reviews
2 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
  • London South GLH
  • North West GLH
  • UKGTN
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperaldosteronism, familial, type III (613677)
  • Long QT syndrome 13 (613485)
  • Long QT syndrome 13
Tags
Red Red List (low evidence)
KCNJ8
4 reviews
3 red
Unknown
Sources
  • South West GLH
  • London South GLH
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada syndrome, MONDO:0015263
Tags
Red Red List (low evidence)
KCNJ8
2 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • Brugada syndrome (Version 1.7)
  • Literature
Phenotypes
  • short qt
  • ventricular tachycardia
  • atrial fibrillation
Tags
Red Red List (low evidence)
KCNK17
3 reviews
2 red
Unknown
Sources
  • South West GLH
Phenotypes
  • Heart conduction disease, MONDO:0000992
Tags
Red Red List (low evidence)
KCNQ1
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
  • Long QT syndrome
  • Short QT syndrome
Tags
Red Red List (low evidence)
KLF10
2 reviews
1 red
Unknown
Sources
  • South West GLH
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
Tags
Red Red List (low evidence)
LDB3
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
LDB3
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • Expert list
Tags
Red Red List (low evidence)
LMNA
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic
Tags
Red Red List (low evidence)
LRP5
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • short qt
Tags
Red Red List (low evidence)
LZTR1
5 reviews
1 green 3 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • RASopathy-associated cardiomyopathy
Tags
Red Red List (low evidence)
MAP2K1
2 reviews
1 red
Unknown
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
MAP2K2
2 reviews
1 red
Unknown
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
MRPL3
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
MT-TL1
2 reviews
1 red
MITOCHONDRIAL
Sources
  • South West GLH
  • Expert Review
Tags
Red Red List (low evidence)
MYH6
6 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
  • London South GLH
  • North West GLH
  • Wessex and West Midlands GLH
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, dilated, 1EE (613252)
  • Atrial septal defect 3 (614089)
  • {Sick sinus syndrome 3} (614090)
  • Cardiomyopathy, hypertrophic, 14 (613251)
  • Cardiomyopathy, familial hypertrophic, 14
Tags
Red Red List (low evidence)
MYO6
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy
Tags
Red Red List (low evidence)
MYOM1
2 reviews
Unknown
Sources
  • South West GLH
  • Expert list
Tags
Red Red List (low evidence)
MYOZ2
4 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 16,
Tags
Red Red List (low evidence)
NEXN
6 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, hypertrophic, 20, OMIM:613876
Tags
Red Red List (low evidence)
NOS1AP
4 reviews
2 red
Unknown
Sources
  • South West GLH
  • Expert list
Tags
Red Red List (low evidence)
NOS1AP
1 review
1 red
Not set
Sources
  • Long QT syndrome (Version 1.5)
Tags
Red Red List (low evidence)
NRAS
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
PDLIM3
2 reviews
1 red
Unknown
Sources
  • South West GLH
  • Expert list
Tags
Red Red List (low evidence)
PKP2
4 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Literature
Phenotypes
  • Brugada syndrome, MONDO:0015263
Tags
Red Red List (low evidence)
PKP2
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Brugada syndrome (Version 1.7)
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 9 (609040)
Tags
Red Red List (low evidence)
PTPN11
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
RAF1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
RANGRF
1 review
1 red
Not set
Sources
  • Brugada syndrome (Version 1.7)
Tags
Red Red List (low evidence)
RANGRF
4 reviews
2 red
Unknown
Sources
  • South West GLH
  • London South GLH
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada syndrome, MONDO:0015263
Tags
Red Red List (low evidence)
RBM20
4 reviews
1 green 2 red
Not set
Sources
  • London South GLH
Phenotypes
  • Cardiomyopathy, dilated, 1DD 613172
Tags
Red Red List (low evidence)
RYR2
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • Literature
Phenotypes
  • Long QT syndrome
  • Catecholaminergic polymorphic ventricular tachycardia
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
Red Red List (low evidence)
RYR2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Long QT syndrome (Version 1.5)
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 2 (600996)
  • Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
Tags
Red Red List (low evidence)
RYR2
9 reviews
2 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
  • London South GLH
  • Wessex and West Midlands GLH
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 2
  • Arrhythmogenic right ventricular dysplasia 2 (600996)
  • Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
Tags
  • deletions
Red Red List (low evidence)
SCN10A
6 reviews
1 green 3 red
Unknown
Sources
  • Expert Review Red
  • South West GLH
  • London South GLH
  • North West GLH
  • Oxford Medical Genetics Laboratory
Phenotypes
  • Brugada syndrome, MONDO:0015263
Tags
Red Red List (low evidence)
SCN10A
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Expert Review Red
  • Brugada syndrome (Version 1.7)
  • Literature
Phenotypes
  • J wave syndrome
  • short QT
  • Episodic pain syndrome, familial, 2 (615551)
  • sudden death
Tags
Red Red List (low evidence)
SCN1B
6 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cardiac conduction defect, nonspecific, OMIM:612838
  • Brugada syndrome 5, OMIM:612838
  • Atrial fibrillation, familial, 13, OMIM:615377
Tags
  • disputed
Red Red List (low evidence)
SCN1B
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Brugada syndrome (Version 1.7)
Phenotypes
  • Cardiac conduction defect, nonspecific, OMIM:612838
  • Brugada syndrome 5, OMIM:612838
  • Atrial fibrillation, familial, 13, OMIM:615377
Tags
Red Red List (low evidence)
SCN2B
4 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
  • Oxford Medical Genetics Laboratory
Phenotypes
  • Brugada syndrome, MONDO:0015263
Tags
Red Red List (low evidence)
SCN2B
0 reviews
Not set
Sources
  • Brugada syndrome (Version 1.7)
Tags
Red Red List (low evidence)
SCN3B
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Brugada syndrome (Version 1.7)
Tags
Red Red List (low evidence)
SCN3B
6 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Brugada syndrome 7, OMIM:613120
Tags
Red Red List (low evidence)
SCN4B
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Emory Genetics Laboratory
  • Long QT syndrome (Version 1.5)
Tags
Red Red List (low evidence)
SCN4B
7 reviews
6 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Red
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Long QT syndrome-10
  • Long QT syndrome-10 (611819)
Tags
Red Red List (low evidence)
SCN5A
5 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • Literature
Phenotypes
  • Arrhythmogenic right ventricular cardiomyopathy
  • Long QT syndrome
  • Brugada syndrome
  • Dilated cardiomyopathy
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
Red Red List (low evidence)
SCO2
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
SHOC2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
SLC22A5
8 reviews
2 green 3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • West Midlands, Oxford and Wessex GLH
  • South West GLH
  • London South GLH
  • Literature
Phenotypes
  • Carnitine deficiency, systemic primary, OMIM:212140
  • systemic primary carnitine deficiency disease, MONDO:0008919
Tags
Red Red List (low evidence)
SLC25A3
5 reviews
2 red
Unknown
Sources
  • South West GLH
  • Expert Review Red
  • Expert list
Phenotypes
  • Mitochondrial phosphate carrier deficiency, 610773
Tags
Red Red List (low evidence)
SLC25A4
3 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • North West GLH
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418)
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (609283)
  • Hypertrophic cardiomyopathy
Tags
Red Red List (low evidence)
SLMAP
4 reviews
3 red
Unknown
Sources
  • South West GLH
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada syndrome, MONDO:0015263
Tags
Red Red List (low evidence)
SLMAP
0 reviews
Not set
Sources
  • Brugada syndrome (Version 1.7)
Tags
Red Red List (low evidence)
SNTA1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • North West GLH
  • Emory Genetics Laboratory
  • Long QT syndrome (Version 1.5)
Phenotypes
  • Long QT syndrome 12 (612955)
Tags
Red Red List (low evidence)
SNTA1
9 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
  • London South GLH
  • North West GLH
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Long QT syndrome 12 612955
  • Long QT syndrome 12 (612955)
Tags
Red Red List (low evidence)
SOS1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
TBX3
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
Phenotypes
  • Heart conduction disease, MONDO:0000992
Tags
Red Red List (low evidence)
TCAP
4 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cardiomyopathy, hypertrophic, 25 (607487)
  • Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954)
Tags
Red Red List (low evidence)
TGFB3
5 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 1
Tags
Red Red List (low evidence)
TMEM70
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic HCM
Tags
Red Red List (low evidence)
TRPM4
7 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
  • North West GLH
  • Oxford Medical Genetics Laboratory
Phenotypes
  • Brugada syndrome, MONDO:0015263
Tags
Red Red List (low evidence)
TRPM4
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Brugada syndrome (Version 1.7)
Phenotypes
  • Progressive familial heart block, type IB (604559)
Tags
Red Red List (low evidence)
TSFM
6 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert Review Red
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 3 610505
Tags
Red Red List (low evidence)
TTN
8 reviews
1 green 4 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • Expert Review Red
  • Expert list
Phenotypes
  • Cardiomyopathy, dilated, 1G, 604145
Tags
Red Red List (low evidence)
TTN
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 9,
Tags
Red Red List (low evidence)
VCL
4 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • North West GLH
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, dilated, 1W (611407)
  • Cardiomyopathy, familial hypertrophic, 15,
  • Cardiomyopathy, hypertrophic, 15 (613255)
Tags
No list No list
FXN_GAA
STR
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Removed
  • Expert list
Phenotypes
  • Friedreich ataxia OMIM:229300
  • Friedreich ataxia with retained reflexes OMIM:229300
  • Friedreich ataxia 1 MONDO:0100340
Tags
  • curated_removed
  • STR
No list No list
MYZAP
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Dilated cardiomyopathy, MONDO:0005021
Tags

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