Sudden cardiac death - previous panel (Version 0.13)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 119 Entitiess
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)	TTR	2 reviews	Unknown	Sources Expert Review Amber Expert Review Green London South GLH Phenotypes syndromic HCM Tags
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 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 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 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 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 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 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 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 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 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 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 List (moderate evidence)	GATAD1	1 review	Unknown	Sources Expert Review Amber London South GLH Phenotypes Cardiomyopathy, dilated, 2B Tags
Amber List (moderate evidence)	JPH2	1 review	Unknown	Sources Expert Review Amber London South GLH Phenotypes Cardiomyopathy, familial hypertrophic 17, Tags
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 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 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 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 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 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 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 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 List (low evidence)	ALMS1	1 review	Not set	Sources London South GLH Tags
Red List (low evidence)	CALR3	1 review	Unknown	Sources Expert Review Red London South GLH Phenotypes Cardiomyopathy, familial hypertrophic, 19 Tags
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 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 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 List (low evidence)	GJA5	1 review	Not set	Sources London South GLH Tags
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 List (low evidence)	ILK	1 review	Unknown	Sources Expert Review Red London South GLH Tags
Red List (low evidence)	KCNA5	1 review	Not set	Sources London South GLH Tags
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 List (low evidence)	KLF10	1 review	Unknown	Sources Expert Review Red London South GLH Phenotypes Hypertrophic cardiomyopathy Tags
Red List (low evidence)	LAMA4	1 review	Unknown	Sources Expert Review Red London South GLH Tags
Red List (low evidence)	MIB1	1 review	Unknown	Sources Expert Review Red London South GLH Phenotypes Left ventricular noncompaction 7 Tags
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 List (low evidence)	NKX2-5	1 review	Unknown	Sources Expert Review Red London South GLH Phenotypes Atrialseptaldefect7,withorwithoutAVconductiondefects,108900 Tags
Red List (low evidence)	NPPA	1 review	Unknown	Sources Expert Review Red London South GLH Phenotypes Dilated cardiomyopathy Tags
Red List (low evidence)	PDLIM3	1 review	Unknown	Sources Expert Review Red London South GLH Tags
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 List (low evidence)	RANGRF	1 review	Unknown	Sources Expert Review Red London South GLH Phenotypes Brugada/Brugada like syndrome Tags
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 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 List (low evidence)	SGCB	1 review	Unknown	Sources Expert Review Red London South GLH Phenotypes Dilated cardiomyopathy Tags
Red List (low evidence)	SGCG	1 review	Not set	Sources London South GLH Tags
Red List (low evidence)	TBX20	1 review	Not set	Sources London South GLH Tags
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 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 List (low evidence)	TXNRD2	1 review	Unknown	Sources Expert Review Red London South GLH Tags
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

Sudden cardiac death - previous panel (Version 0.13)

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