Green
Green List (high evidence)
|
|
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
-
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
NHS GMS
Tags
|
Green
Green List (high evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
NHS GMS
Tags
|
Green
Green List (high evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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
Tags
|
Green
Green List (high evidence)
|
|
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
Tags
|
Green
Green List (high evidence)
|
|
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)
|
|
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
Tags
|
Green
Green List (high evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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
|
Green
Green List (high evidence)
|
|
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
|
Green
Green List (high evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
NHS GMS
Tags
|
Green
Green List (high evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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
|
Green
Green List (high evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
NHS GMS
Tags
|
Green
Green List (high evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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
|
Green
Green List (high evidence)
|
|
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)
|
|
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
|
Green
Green List (high evidence)
|
|
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)
|
|
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)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Amber
-
NHS GMS
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
NHS GMS
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Amber
-
NHS GMS
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Harel-Yoon syndrome, OMIM:617183
Tags
|
Amber
Amber List (moderate evidence)
|
|
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
|
Amber
Amber List (moderate evidence)
|
|
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
|
Amber
Amber List (moderate evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Dilated cardiomyopathy, MONDO:0005021
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Amber
-
NHS GMS
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- ?Glycogen storage disease XV, OMIM:613507
- hypertrophic cardiomyopathy, MONDO:0005045
Tags
|
Amber
Amber List (moderate evidence)
|
|
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)
|
|
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)
|
|
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
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Amber
-
NHS GMS
Tags
|
Amber
Amber List (moderate evidence)
|
|
4 reviews
1 green
|
MITOCHONDRIAL
|
Sources
-
Expert Review Amber
-
Wessex and West Midlands GLH
Tags
|
Amber
Amber List (moderate evidence)
|
|
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)
|
|
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)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Dilated cardiomyopathy, MONDO:0005021
Tags
|
Amber
Amber List (moderate evidence)
|
|
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)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
NHS GMS
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Other
Phenotypes
- Dilated cardiomyopathy, MONDO:0005021
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Dilated cardiomyopathy, MONDO:0005021
Tags
|
Amber
Amber List (moderate evidence)
|
|
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)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Amber
-
NHS GMS
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Tags
|
Amber
Amber List (moderate evidence)
|
|
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)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Hypertrophic cardiomyopathy
Tags
|
Amber
Amber List (moderate evidence)
|
|
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
|
Amber
Amber List (moderate evidence)
|
|
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)
|
|
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)
|
|
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
|
Amber
Amber List (moderate evidence)
|
|
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)
|
|
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)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Early retinal degeneration
- cardiomyopathy
Tags
|
Amber
Amber List (moderate evidence)
|
|
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)
|
|
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
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Amber
-
NHS GMS
Tags
|
Amber
Amber List (moderate evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
Tags
|
Amber
Amber List (moderate evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
South West GLH
-
Expert list
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
South West GLH
-
Expert list
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- {Acquired long QT syndrome, reduced susceptibility to} OMIM:613688
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- {Acquired long QT syndrome, reduced susceptibility to} OMIM:613688
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
3 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Heart conduction disease, MONDO:0000992
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
3 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
South West GLH
-
London South GLH
-
Expert list
-
UKGTN
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 red
|
Unknown
|
Sources
-
South West GLH
-
Expert list
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
South West GLH
-
Expert list
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Long QT syndrome (Version 1.5)
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
-
Long QT syndrome (Version 1.5)
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
South West GLH
-
Expert list
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
2 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
South West GLH
-
Expert list
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
1 review
1 red
|
Not set
|
Sources
-
Brugada syndrome (Version 1.7)
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
1 review
1 red
|
Not set
|
Sources
-
Expert Review Red
-
NHS GMS
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
2 reviews
1 red
|
Unknown
|
Sources
-
South West GLH
-
Expert list
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
3 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
South West GLH
-
London South GLH
-
Expert list
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
-
Expert Review Red
-
NHS GMS
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Heart conduction disease, MONDO:0000992
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
South West GLH
-
Expert list
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
South West GLH
-
Expert list
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
South West GLH
-
Expert list
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
-
Brugada syndrome (Version 1.7)
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
2 reviews
1 red
|
Unknown
|
Sources
-
South West GLH
-
Literature
Phenotypes
- Long QT syndrome
- Brugada syndrome
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
-
Brugada syndrome (Version 1.7)
Phenotypes
- atrial fibrillation
- Brugada syndrome
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
3 reviews
2 red
|
Unknown
|
Sources
Phenotypes
- Heart conduction disease, MONDO:0000992
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
2 reviews
1 red
|
Unknown
|
Sources
-
South West GLH
-
Literature
Phenotypes
- Hypertrophic cardiomyopathy
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
2 reviews
1 red
|
Unknown
|
Sources
-
South West GLH
-
Expert list
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Unknown
|
Sources
-
South West GLH
-
Expert list
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
South West GLH
-
Expert list
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
MITOCHONDRIAL
|
Sources
-
South West GLH
-
Expert Review
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
2 reviews
|
Unknown
|
Sources
-
South West GLH
-
Expert list
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
4 reviews
2 red
|
Unknown
|
Sources
-
South West GLH
-
Expert list
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
-
Long QT syndrome (Version 1.5)
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
South West GLH
-
Expert list
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Unknown
|
Sources
-
South West GLH
-
Expert list
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
South West GLH
-
Expert list
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
South West GLH
-
Expert list
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
-
Brugada syndrome (Version 1.7)
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
4 reviews
1 green
2 red
|
Not set
|
Sources
Phenotypes
- Cardiomyopathy, dilated, 1DD 613172
Tags
|
Red
Red List (low evidence)
|
|
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
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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
|
Red
Red List (low evidence)
|
|
0 reviews
|
Not set
|
Sources
-
Brugada syndrome (Version 1.7)
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
3 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
South West GLH
-
Expert list
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
South West GLH
-
Expert list
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
0 reviews
|
Not set
|
Sources
-
Brugada syndrome (Version 1.7)
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
South West GLH
-
Expert list
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
South West GLH
-
Expert list
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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
|
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
|