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'.

The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries..

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.



This was originally used for 'R138 Molecular autopsy'; however, this panel is now replaced by the new superpanel https://panelapp.genomicsengland.co.uk/panels/841/.

5 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • James Eden (Manchester)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

119 Entities

119 reviewed, 71 green

List Entity Reviews Mode of inheritance Details
119 Entitiess
Green Green List (high evidence)
ABCC9
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • short qt
  • Dilated Cardiomyopathy, Dominant
  • Dilated cardiomyopathy
  • ventricular tachycardia
  • Cardiomyopathy, dilated, 1O (608569)
  • atrial fibrillation
  • Atrial fibrillation, familial, 12 (614050)
  • Brugada syndrome
  • Cardiomyopathy, dilated, 1O
Tags
Green Green List (high evidence)
ACTC1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Atrial septal defect 5 (612794)
  • Left ventricular noncompaction 4 (613424)
  • Cardiomyopathy, dilated, 1R (613424)
  • Hypertrophic Cardiomyopathy
  • Cardiomyopathy, familial hypertrophic, 11
  • Cardiomyopathy, hypertrophic, 11 (612098)
  • Cardiomyopathy, dilated, 1R
  • Left Ventricular Noncompaction Cardiomyopathy
  • Left ventricular noncompaction 4
Tags
Green Green List (high evidence)
ACTN2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1AA, with or without LVNC (612158)
  • Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158)
  • Dilated Cardiomyopathy, Dominant
Tags
Green Green List (high evidence)
ANK2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiac arrhythmia, ankyrin-B-related (600919)
  • Long QT syndrome-4
  • Long QT syndrome 4 (600919)
  • Cardiac arrhythmia, ankyrin-B-related 600919
  • catecholaminergic polymorphic ventricular tachycardia
  • Brugada/Brugada like syndrome
  • Long QT syndrome 4 600919
Tags
Green Green List (high evidence)
BAG3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • Cardiomyopathy, dilated, 1HH
Tags
Green Green List (high evidence)
CACNA1C
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • short qt
  • brugada syndrome
  • scd
  • Long QT syndrome
  • Hypertrophic cardiomyopathy
  • syncope
  • Brugada syndrome 3 611875
  • Brugada syndrome
  • Brugada syndrome 3
  • Timothy syndrome (601005)
  • Brugada syndrome 3 (611875)
Tags
Green Green List (high evidence)
CACNB2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • short qt
  • brugada syndrome
  • Brugada syndrome 4 (611876)
  • Brugada syndrome 4
  • Short QT syndrome 5
  • Brugada syndrome 4 611876
Tags
Green Green List (high evidence)
CALM1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 4
  • Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916)
  • Long QT syndrome 14
  • catecholaminergic polymorphic ventricular tachycardia
  • Long QT syndrome 14 (616247)
Tags
Green Green List (high evidence)
CASQ2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Catecholaminergic polymorphic ventricular tachycardia
  • Left ventricular non-compaction
  • Hypertrophic cardiomyopathy
  • Ventricular tachycardia, catecholaminergic polymorphic, 2
  • Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938)
Tags
Green Green List (high evidence)
COX15
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
  • Leigh syndrome due to cytochrome c oxidase deficiency, 256000
  • Isolated complex IV deficiency
  • Mitochondrial Diseases
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Mitochondrial Respiratory Chain Complex IV Deficiency
Tags
Green Green List (high evidence)
CSRP3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 12
  • ?Cardiomyopathy, dilated, 1M (607482)
  • Cardiomyopathy, dilated, 1M
  • Cardiomyopathy, hypertrophic, 12 (612124)
Tags
Green Green List (high evidence)
DES
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1I,
  • Cardiomyopathy, dilated, 1I, (604765)
  • Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
  • Myopathy, myofibrillar, 1 (601419)
Tags
Green Green List (high evidence)
DMD
1 review
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
  • London South GLH
Phenotypes
  • Duchenne muscular dystrophy, 310200
  • Dilated Cardiomyopathy, X-Linked
  • Cardiomyopathy, dilated, 3B
  • Becker muscular dystrophy, 300376
Tags
Green Green List (high evidence)
DSC2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • 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)
DSG2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1BB,
  • Arrhythmogenic right ventricular dysplasia 10
  • Cardiomyopathy, dilated, 1BB (612877)
  • Arrhythmogenic right ventricular dysplasia 10 (610193)
Tags
Green Green List (high evidence)
DSP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, with woolly hair and keratoderma (605676)
  • Skin fragility-woolly hair syndrome (607655)
  • Dilated cardiomyopathy with woolly hair and keratoderma
  • Epidermolysis bullosa, lethal acantholytic (609638)
  • Arrhythmogenic right ventricular dysplasia 8 (607450)
  • Arrhythmogenic right ventricular dysplasia 8
  • Keratosis palmoplantaris striata II (612908)
  • Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821)
Tags
Green Green List (high evidence)
EYA4
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • ?Cardiomyopathy, dilated, 1J (605362)
  • Cardiomyopathy, dilated, 1J
  • Deafness, autosomal dominant 10 (601316)
Tags
Green Green List (high evidence)
FHL1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • ?Uruguay faciocardiomusculoskeletal syndrome (300280)
  • Myopathy, X-linked, with postural muscle atrophy (300696)
  • Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718)
  • Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717)
  • Scapuloperoneal myopathy, X-linked dominant (300695)
  • Emery-Dreifuss muscular dystrophy 6, X-linked (300696)
Tags
Green Green List (high evidence)
FKTN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • Dilated Cardiomyopathy, Recessive
  • Fukuyama Congenital Muscular Dystrophy
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • Cardiomyopathy, dilated, 1X
  • Fukuyama congenital muscular dystrophy
  • Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588
  • Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
GAA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • Glycogen storage disease II, 232300
  • syndromic HCM
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
  • London South GLH
  • North West GLH
Phenotypes
  • Fabry disease, 301500
  • Fabry disease, cardiac variant (301500)
  • Fabry disease (301500)
  • syndromic HCM
  • Fabry disease, cardiac variant, 301500
  • Fabry disease (Sphingolipidoses)
  • Fabry Disease
Tags
Green Green List (high evidence)
HADHA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • Trifunctional protein deficiency 609015
  • Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation)
Tags
Green Green List (high evidence)
HCN4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Sick sinus syndrome 2 (163800)
  • Brugada syndrome 8
  • Brugada syndrome 8 (613123)
Tags
Green Green List (high evidence)
HFE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • Hereditary haemochromatosis Type 1 (Disorder of iron metabolism)
  • Hemochromatosis
  • Hemochromatosis, 235200
Tags
Green Green List (high evidence)
HRAS
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • Costello syndrome
  • syndromic HCM
Tags
Green Green List (high evidence)
JUP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 12 (611528)
  • Naxos disease (601214)
  • Arrhythmogenic right ventricular dysplasia 12
Tags
Green Green List (high evidence)
KCNE1
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Jervell and Lange-Nielsen syndrome 2 (612347)
  • Catecholaminergic polymorphic ventricular tachycardia
  • Long QT syndrome
  • Long QT syndrome-5 (613695)
  • Long QT syndrome-5
Tags
Green Green List (high evidence)
KCNE2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Long QT syndrome-6 (613693)
  • Long QT syndrome-6
  • Atrial fibrillation, familial, 4 (611493)
Tags
Green Green List (high evidence)
KCNE3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Brugada syndrome
  • Long QT syndrome
  • Brugada syndrome 6
  • ?Brugada syndrome 6 (613119)
Tags
Green Green List (high evidence)
KCNH2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • short qt
  • Long QT syndrome-2
  • Long QT syndrome-2 (613688)
  • cardiac arrest
  • Short QT syndrome 1 (609620)
  • ventricular fibrillation
  • atrial fibrillation
  • Brugada/Brugada like syndrome
  • Short QT syndrome 1 609620
  • Brugada
  • Long QT syndrome 2 613688
Tags
Green Green List (high evidence)
KCNJ2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Atrial fibrillation, familial, 9 (613980)
  • short qt
  • Andersen syndrome (170390)
  • ANDERSEN SYNDROME (170390)
  • ventricular tacyarrhythmia
  • catecholaminergic polymorphic ventricular tachycardia
  • atrial fibrillation
  • LONG QT SYNDROME 7 (170390)
  • Short QT syndrome 3 (609622)
  • Short QT syndrome 3 609622
Tags
Green Green List (high evidence)
KCNJ5
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Long QT syndrome 13 (613485)
  • Long QT syndrome 13
  • Hyperaldosteronism, familial, type III (613677)
Tags
Green Green List (high evidence)
KCNQ1
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Atrial fibrillation, familial, 3 (607554)
  • Long QT syndrome-1 (192500)
  • Idiopathic Ventricular Fibrillation
  • Short QT-interval syndrome
  • Long QT syndrome
  • Hypertrophic cardiomyopathy
  • Jervell and Lange-Nielsen syndrome (220400)
  • Long QT syndrome-1
  • Short QT syndrome
  • Short QT syndrome 2 609621
  • Short QT syndrome 2 (609621)
Tags
Green Green List (high evidence)
KRAS
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • Noonan syndrome
  • Cardio-Facio-Cutaneous syndrome
  • CFC syndrome
  • Cardiofaciocutaneous syndrome 2
  • Cardiofaciocutaneous Syndrome
  • Noonan syndrome 3
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
  • London South GLH
  • North West GLH
Phenotypes
  • syndromic HCM
  • Danon disease (300257)
  • Danon disease
Tags
Green Green List (high evidence)
LDB3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • Left ventricular noncompaction 3, with or without dilated cardiomyopathy
  • Cardiomyopathy, dilated 1C
Tags
Green Green List (high evidence)
LMNA
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic
  • Hutchinson-Gilford progeria (176670)
  • Heart-hand syndrome, Slovenian type (610140)
  • Muscular dystrophy, congenital (613205)
  • Charcot-Marie-Tooth disease, type 2B1 (605588)
  • Restrictive dermopathy, lethal (275210)
  • Congenital Muscular Dystrophy, LMNA-related (Dominant)
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516)
  • Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350)
  • Cardiomyopathy, dilated, 1A (115200)
  • Cardiomyopathy, dilated, 1A
  • Lipodystrophy, familial partial, type 2 (151660)
  • Emery-Dreifuss muscular dystrophy 2, AD, 181350
  • Mandibuloacral dysplasia (248370)
  • Malouf syndrome (212112)
Tags
Green Green List (high evidence)
MAP2K1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • Cardio-Facio-Cutaneous syndrome
  • CFC syndrome
  • syndromic HCM
  • ?Noonan syndrome
  • LEOPARD syndrome
  • Cardiofaciocutaneous syndrome 3
  • Cardiofaciocutaneous Syndrome
Tags
Green Green List (high evidence)
MAP2K2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • Cardiofaciocutaneous syndrome 4
  • Cardio-Facio-Cutaneous syndrome
  • CFC syndrome
  • syndromic HCM
  • Cardio-Facio-Cutaneous syndrome type 4
  • Cardiofaciocutaneous Syndrome
Tags
Green Green List (high evidence)
MYBPC3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1MM
  • Left ventricular noncompaction 10,
  • Left ventricular noncompaction 10 (615396)
  • Cardiomyopathy, dilated, 1MM (615396)
  • Cardiomyopathy, hypertrophic, 4 (115197)
  • Hypertrophic cardiomyopathy
  • Cardiomyopathy, familial hypertrophic, 4,
Tags
Green Green List (high evidence)
MYH6
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1EE (613252)
  • Cardiomyopathy, familial hypertrophic, 14
  • Atrial septal defect 3 (614089)
  • {Sick sinus syndrome 3} (614090)
  • Cardiomyopathy, hypertrophic, 14 (613251)
  • Cardiomyopathy, dilated, 1EE
Tags
Green Green List (high evidence)
MYH7
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, hypertrophic, 1 (192600)
  • Hypertrophic cardiomyopathy
  • Cardiomyopathy, familial hypertrophic, 1,
  • Myopathy, myosin storage, autosomal dominant (608358)
  • Left ventricular noncompaction 5
  • Laing distal myopathy (160500)
  • Left ventricular noncompaction 5 (613426)
  • Cardiomyopathy, dilated, 1S
  • Cardiomyopathy, dilated, 1S (613426)
  • Scapuloperoneal syndrome, myopathic type (181430)
  • Myopathy, myosin storage, autosomal recessive (255160)
Tags
Green Green List (high evidence)
MYL2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 10
  • Cardiomyopathy, familial hypertrophic, 10 (608758)
Tags
Green Green List (high evidence)
MYL3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 8 (608751)
  • Cardiomyopathy, familial hypertrophic, 8,
Tags
Green Green List (high evidence)
NEXN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1CC
  • Cardiomyopathy, hypertrophic, 20 (613876)
  • Cardiomyopathy, dilated, 1CC (613122)
  • Cardiomyopathy, familial hypertrophic, 20,
Tags
Green Green List (high evidence)
NRAS
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • CFC Syndrome
  • Noonan syndrome
  • syndromic HCM
  • Noonan syndrome 6
  • Cardio-Facio-cutanenous syndrome
Tags
Green Green List (high evidence)
PKP2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Dilated cardiomyopathy
  • Arrhythmogenic right ventricular dysplasia 9 (609040)
  • Arrhythmogenic right ventricular dysplasia 9
  • Brugada syndrome
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
Green Green List (high evidence)
PLN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1P
  • Cardiomyopathy, familial hypertrophic, 18,
  • Cardiomyopathy, dilated, 1P (609909)
  • Cardiomyopathy, hypertrophic, 18 (613874)
Tags
Green Green List (high evidence)
PRKAG2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic 6,
  • syndromic HCM
  • Wolff-Parkinson-White syndrome (194200)
  • Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
  • Glycogen storage disease of heart, lethal congenital (261740)
  • Cardiomyopathy, familial hypertrophic 6 (600858)
Tags
Green Green List (high evidence)
PTPN11
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • LEOPARD syndrome 1
  • Noonan syndrome
  • syndromic HCM
  • Noonan syndrome 1
  • LEOPARD syndrome
Tags
Green Green List (high evidence)
RAF1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • Noonan syndrome
  • Noonan syndrome 5
  • syndromic HCM
  • LEOPARD syndrome
  • LEOPARD syndrome 2
Tags
Green Green List (high evidence)
RBM20
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1DD (613172)
  • Cardiomyopathy, dilated, 1DD
Tags
Green Green List (high evidence)
RYR2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 2 (600996)
  • Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772
  • Catecholaminergic polymorphic ventricular tachycardia
  • Long QT syndrome
  • catecholaminergic polymorphic ventricular tachycardia
  • Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
  • Arrhythmogenic right ventricular dysplasia 2, 600996
  • CPVT
  • Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
Green Green List (high evidence)
SCN10A
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • North West GLH
Phenotypes
  • J wave syndrome
  • short QT
  • sudden death
  • Episodic pain syndrome, familial, 2 (615551)
Tags
Green Green List (high evidence)
SCN5A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1E (601154)
  • Brugada syndrome 1
  • Brugada syndrome 1 601144
  • Brugada syndrome 1 (601144)
  • Ventricular fibrillation, familial, 1, 603829
  • Dilated cardiomyopathy
  • Ventricular fibrillation, familial, 1 (603829)
  • Long QT syndrome
  • {Sudden infant death syndrome, susceptibility to} (272120)
  • Long QT syndrome-3 (603830)
  • Long QT syndrome-3
  • Paroxysmal Familial Ventricular Fibrillation
  • Heart block, nonprogressive (113900)
  • Heart block, progressive, type IA (113900)
  • Ventricular fibrillation, familial, 1,
  • Atrial fibrillation, familial, 10 (614022)
  • Brugada syndrome
  • Cardiomyopathy, dilated, 1E
  • Arrhythmogenic right ventricular cardiomyopathy
  • Sick sinus syndrome 1 (608567)
Tags
Green Green List (high evidence)
SDHA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • Paragangliomas 5, 614165
  • Cardiomyopathy, dilated, 1GG, 613642
  • Mitochondrial Respiratory Chain Complex II Deficiency
  • Leigh syndrome, 256000
  • Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Mitochondrial respiratory chain complex II deficiency, 252011
  • Isolated complex II deficiency
  • Cardiomyopathy, dilated, 1GG
Tags
Green Green List (high evidence)
SGCD
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1L
  • Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287)
  • Cardiomyopathy, dilated, 1L (606685)
Tags
Green Green List (high evidence)
SHOC2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • syndromic HCM
  • Noonan-like syndrome with loose anagen hair
Tags
Green Green List (high evidence)
SLC25A4
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (609283)
  • Disorders of mitochondrial protein transport
  • Hypertrophic cardiomyopathy
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418)
  • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283
  • Disorders of mitochondrial DNA maintenance and integrity
Tags
Green Green List (high evidence)
SOS1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
Phenotypes
  • Noonan syndrome 4
  • syndromic HCM
  • Noonan syndrome
Tags
Green Green List (high evidence)
TAZ
1 review
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
  • London South GLH
Phenotypes
  • Disorders of mitochondrial lipid metabolism
  • Dilated Cardiomyopathy, X-Linked
  • Barth syndrome, 302060
  • Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias)
  • Left Ventricular Noncompaction Cardiomyopathy
  • Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Green Green List (high evidence)
TCAP
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, hypertrophic, 25 (607487)
  • Congenital muscular dystrophies
  • Cardiomyopathy, dilated, 1N
  • Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954)
Tags
Green Green List (high evidence)
TMEM43
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 5
  • Emery-Dreifuss muscular dystrophy 7, AD 614302
  • Emery-Dreifuss muscular dystrophy 7, AD (614302)
  • Arrhythmogenic right ventricular dysplasia 5 (604400)
Tags
Green Green List (high evidence)
TNNC1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 13,
  • Cardiomyopathy, dilated, 1Z
  • Cardiomyopathy, dilated, 1Z (611879)
  • Cardiomyopathy, hypertrophic, 13 (613243)
Tags
Green Green List (high evidence)
TNNI3
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 7
  • Hypertrophic cardiomyopathy
  • ?Cardiomyopathy, dilated, 2A (611880)
  • Cardiomyopathy, dilated, 1FF
  • Cardiomyopathy, dilated, 1FF (613286)
  • Cardiomyopathy, dilated, 2A,
  • Cardiomyopathy, familial restrictive, 1 (115210)
  • Cardiomyopathy, hypertrophic, 7 (613690)
Tags
Green Green List (high evidence)
TNNT2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1D
  • Cardiomyopathy, familial hypertrophic, 2
  • Hypertrophic cardiomyopathy
  • Cardiomyopathy, dilated, 1D (601494)
  • Left ventricular noncompaction 6,
  • Cardiomyopathy, hypertrophic, 2 (115195)
  • Left ventricular noncompaction 6 (601494)
  • Cardiomyopathy, familial restrictive, 3 (612422)
Tags
Green Green List (high evidence)
TPM1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Left ventricular noncompaction 9 ( 611878)
  • Cardiomyopathy, dilated, 1Y
  • Cardiomyopathy, dilated, 1Y (611878)
  • Cardiomyopathy, familial hypertrophic, 3
  • Cardiomyopathy, hypertrophic, 3 (115196)
  • Left ventricular noncompaction 9,
Tags
Green Green List (high evidence)
TRDN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (615441)
  • catecholaminergic polymorphic ventricular tachycardia
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
Tags
Green Green List (high evidence)
TTN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 9,
  • Cardiomyopathy, dilated, 1G
  • Cardiomyopathy, familial hypertrophic, 9 (613765)
  • Salih myopathy (611705)
  • Myopathy, proximal, with early respiratory muscle involvement (603689)
  • Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807)
  • Cardiomyopathy, dilated, 1G (604145)
  • Tibial muscular dystrophy, tardive (600334)
Tags
Green Green List (high evidence)
TTR
2 reviews
Unknown
Sources
  • Expert Review Amber
  • Expert Review Green
  • London South GLH
Phenotypes
  • syndromic HCM
Tags
Green Green List (high evidence)
VCL
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 15,
  • Cardiomyopathy, dilated, 1W (611407)
  • Cardiomyopathy, dilated, 1W
  • Cardiomyopathy, hypertrophic, 15 (613255)
Tags
Amber Amber List (moderate evidence)
ACTA1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London South GLH
Phenotypes
  • Dilated cardiomyopathy
  • Hypertrophic cardiomyopathy
  • Nemaline myopathy 3, autosomal dominant or recessive 161800
  • CMD with rigid spine
  • Myopathy, congenital, with fiber-type disproportion 1 255310
Tags
Amber Amber List (moderate evidence)
ANKRD1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London South GLH
Phenotypes
  • Dilated Cardiomyopathy, Dominant
Tags
Amber Amber List (moderate evidence)
BRAF
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review Green
  • London South GLH
Phenotypes
  • Noonan Syndrome
  • syndromic HCM
  • LEOPARD syndrome 3
  • LEOPARD Syndrome
  • Cardio-facio-cutaneous syndrome
  • Cardiofaciocutaneous Syndrome
Tags
Amber Amber List (moderate evidence)
CACNA2D1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London South GLH
  • North West GLH
Phenotypes
  • short qt
  • cardiac arrhythmia
  • Brugada/Brugada like syndrome
  • Sudden death
  • Brugada syndrome
  • aborted sudden death
  • Short QT syndrome 6
Tags
Amber Amber List (moderate evidence)
CBL
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review Green
  • London South GLH
Phenotypes
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
Tags
Amber Amber List (moderate evidence)
CRYAB
1 review
Unknown
Sources
  • Expert Review Amber
  • London South GLH
Phenotypes
  • Myopathy, myofibrillar, fatal infantile hypertrophy, alpha B crystallin related, 613869
  • Cardiomyopathy, dilated, 1II,
Tags
Amber Amber List (moderate evidence)
DNAJC19
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Green
  • London South GLH
Phenotypes
  • dilated cardiomyopathy with ataxia syndrome
  • 3-methylglutaconic aciduria, type V, 610198
  • Disorders of the mitochondrial import system
  • 3-methylglutaconic aciduria, type V
Tags
Amber Amber List (moderate evidence)
DOLK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Green
  • London South GLH
Phenotypes
  • Congenital disorder of glycosylation, type Im
  • Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
  • Congenital disorder of glycosylation, type Im 610768
  • syndromic DCM
Tags
Amber Amber List (moderate evidence)
FKRP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Green
  • London South GLH
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153
  • Fukutin-related protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
  • Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612
Tags
Amber Amber List (moderate evidence)
FXN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London South GLH
Phenotypes
  • Hereditary ataxia
  • syndromic HCM
  • Friedreich ataxia, 229300
  • Friedreich ataxia with retained reflexes, 229300
  • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Amber Amber List (moderate evidence)
GATAD1
1 review
Unknown
Sources
  • Expert Review Amber
  • London South GLH
Phenotypes
  • Cardiomyopathy, dilated, 2B
Tags
Amber Amber List (moderate evidence)
JPH2
1 review
Unknown
Sources
  • Expert Review Amber
  • London South GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic 17,
Tags
Amber Amber List (moderate evidence)
KCNJ8
1 review
Unknown
Sources
  • Expert Review Amber
  • London South GLH
Phenotypes
  • short qt
  • arrhythmia
  • ventricular tachycardia
  • atrial fibrillation
  • Brugada/Brugada like syndrome
  • Sudden infant death syndrome
  • ?Ventricular fibrillation
Tags
Amber Amber List (moderate evidence)
LAMA2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Green
  • London South GLH
Phenotypes
  • Congenital Muscular Dystrophy, LAMA2-related
  • Muscular dystrophy, congenital merosin-deficient, 607855
  • Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855
Tags
Amber Amber List (moderate evidence)
MYLK2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, hypertrophic, midventricular, digenic,
  • Cardiomyopathy, hypertrophic, 1, digenic (192600)
Tags
Amber Amber List (moderate evidence)
MYPN
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London South GLH
Phenotypes
  • Cardiomypathy, familial hypertrophic, 22,
  • Cardiomyopathy, dilated, 1KK
Tags
Amber Amber List (moderate evidence)
SCN1B
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London South GLH
  • North West GLH
Phenotypes
  • Brugada syndrome 5 (612838)
  • Brugada syndrome 5
  • Cardiac conduction defect, nonspecific
  • Nonspecific Cardiac Conduction Defect
  • Cardiac conduction defect, nonspecific (612838)
  • Atrial fibrillation, familial, 13 (615377)
  • Epileptic encephalopathy, early infantile, 52 (617350)
  • Epilepsy, generalized, with febrile seizures plus, type 1 (604233)
Tags
Amber Amber List (moderate evidence)
SNTA1
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London South GLH
  • North West GLH
Phenotypes
  • Long QT syndrome 12 612955
  • Long QT syndrome 12 (612955)
Tags
Amber Amber List (moderate evidence)
TRPM4
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • North West GLH
Phenotypes
  • Progressive familial heart block, type IB (604559)
  • Progressive familial heart block, type IB 604559
Tags
Red Red List (low evidence)
AKAP9
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London South GLH
  • North West GLH
Phenotypes
  • Long QT syndrome-11 (611820)
  • ?Long QT syndrome-11 611820
  • Long QT syndrome-11
Tags
Red Red List (low evidence)
ALMS1
1 review
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
CALR3
1 review
Unknown
Sources
  • Expert Review Red
  • London South GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 19
Tags
Red Red List (low evidence)
CAV3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London South GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic,
  • Brugada/Brugada like syndrome
  • Long QT syndrome-9
Tags
Red Red List (low evidence)
DTNA
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London South GLH
Phenotypes
  • Left ventricular noncompaction 1, with or without congenital heart defects,
Tags
Red Red List (low evidence)
EMD
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • London South GLH
Phenotypes
  • Emery-Dreifuss muscular dystrophy 1, X-linked, 310300
Tags
Red Red List (low evidence)
GJA5
1 review
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
GPD1L
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London South GLH
  • North West GLH
Phenotypes
  • Brugada syndrome 2
  • Brugada syndrome 2 (611777)
Tags
Red Red List (low evidence)
ILK
1 review
Unknown
Sources
  • Expert Review Red
  • London South GLH
Tags
Red Red List (low evidence)
KCNA5
1 review
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
KCND3
1 review
Unknown
Sources
  • Expert Review Red
  • London South GLH
Phenotypes
  • sudden unexplained death
  • arrhythmia
  • Brugada/Brugada like syndrome
  • sudden cardiac arrest
Tags
Red Red List (low evidence)
KLF10
1 review
Unknown
Sources
  • Expert Review Red
  • London South GLH
Phenotypes
  • Hypertrophic cardiomyopathy
Tags
Red Red List (low evidence)
LAMA4
1 review
Unknown
Sources
  • Expert Review Red
  • London South GLH
Tags
Red Red List (low evidence)
MIB1
1 review
Unknown
Sources
  • Expert Review Red
  • London South GLH
Phenotypes
  • Left ventricular noncompaction 7
Tags
Red Red List (low evidence)
MYOZ2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London South GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 16,
Tags
Red Red List (low evidence)
NKX2-5
1 review
Unknown
Sources
  • Expert Review Red
  • London South GLH
Phenotypes
  • Atrialseptaldefect7,withorwithoutAVconductiondefects,108900
Tags
Red Red List (low evidence)
NPPA
1 review
Unknown
Sources
  • Expert Review Red
  • London South GLH
Phenotypes
  • Dilated cardiomyopathy
Tags
Red Red List (low evidence)
PDLIM3
1 review
Unknown
Sources
  • Expert Review Red
  • London South GLH
Tags
Red Red List (low evidence)
PRDM16
1 review
Unknown
Sources
  • Expert Review Red
  • London South GLH
Phenotypes
  • Left ventricular noncompaction 8
  • Cardiomyopathy, dilated, 1LL
Tags
Red Red List (low evidence)
RANGRF
1 review
Unknown
Sources
  • Expert Review Red
  • London South GLH
Phenotypes
  • Brugada/Brugada like syndrome
Tags
Red Red List (low evidence)
SCN3B
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London South GLH
  • North West GLH
Phenotypes
  • Brugada syndrome 7
Tags
Red Red List (low evidence)
SCN4B
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London South GLH
  • North West GLH
Phenotypes
  • Long QT syndrome-10
Tags
Red Red List (low evidence)
SGCB
1 review
Unknown
Sources
  • Expert Review Red
  • London South GLH
Phenotypes
  • Dilated cardiomyopathy
Tags
Red Red List (low evidence)
SGCG
1 review
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
TBX20
1 review
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
TGFB3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London South GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 1
Tags
Red Red List (low evidence)
TMPO
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London South GLH
  • North West GLH
Phenotypes
  • Dilated Cardiomyopathy, Dominant
Tags
Red Red List (low evidence)
TXNRD2
1 review
Unknown
Sources
  • Expert Review Red
  • London South GLH
Tags
No list No list
PPA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • NHS GMS
  • Research
Phenotypes
  • Sudden cardiac failure, infantile, 617222
  • Sudden cardiac failure, alcohol-induced, 617223
Tags

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