Green
Green List (high evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert Review Amber
-
Expert Review Green
-
London South GLH
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Amber
-
London South GLH
Phenotypes
- Cardiomyopathy, dilated, 2B
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Amber
-
London South GLH
Phenotypes
- Cardiomyopathy, familial hypertrophic 17,
Tags
|
Amber
Amber List (moderate evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
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)
|
|
1 review
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Red
-
London South GLH
Phenotypes
- Cardiomyopathy, familial hypertrophic, 19
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
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)
|
|
1 review
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Red
-
London South GLH
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Red
-
London South GLH
Phenotypes
- Hypertrophic cardiomyopathy
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Red
-
London South GLH
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Red
-
London South GLH
Phenotypes
- Left ventricular noncompaction 7
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Red
-
London South GLH
Phenotypes
- Atrialseptaldefect7,withorwithoutAVconductiondefects,108900
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Red
-
London South GLH
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Red
-
London South GLH
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Red
-
London South GLH
Phenotypes
- Left ventricular noncompaction 8
- Cardiomyopathy, dilated, 1LL
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Red
-
London South GLH
Phenotypes
- Brugada/Brugada like syndrome
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Red
-
London South GLH
-
North West GLH
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Red
-
London South GLH
-
North West GLH
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Red
-
London South GLH
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
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)
|
|
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)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Red
-
London South GLH
Tags
|
No list
No list
|
|
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
|