Description
This panel will be routinely applied for clinical indication “R135 Paediatric or syndromic cardiomyopathy” and can also be used as part of the analysis of a broader phenotype, where relevant, using genome or exome data in the NHS Genomic Medicine Service.

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 'R135 Paediatric or syndromic cardiomyopathy'.

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.


The content of this panel (version 1.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/749/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (09/12/2019).

This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels.

17 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Katherine Smith (Genomics England)

    Group: Other
    Workplace: Other

  • Carl Fratter (Oxford University Hospitals NHS Trust)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Andrea Haworth (ACGS, Congenica)

    Group: Other biotech or pharmaceutical
    Workplace: Other clinical service

  • Helen Savage (Congenica Ltd)

    Group: Other biotech or pharmaceutical
    Workplace: Other clinical service

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Shamima Rahman (UCL Institute of Child Health)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Alice Gardham (Genomics England)

    Group: Other
    Workplace: Other

  • Louise Daugherty (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

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • James Eden (Manchester)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Rebecca Whittington (South West GLH)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

198 Entities

198 reviewed, 140 green

List Entity Reviews Mode of inheritance Details
198 Entitiess
Green Green List (high evidence)
AARS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 8, 614096
  • infantile mitochondrial cardiomyopathy
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
Green Green List (high evidence)
ABCC9
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Dilated Cardiomyopathy, Dominant
  • Cardiomyopathy, dilated, 1O
Tags
Green Green List (high evidence)
ACAD9
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 20, 611126
Tags
Green Green List (high evidence)
ACADVL
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
  • South West GLH
Phenotypes
  • VLCAD deficiency
  • Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
  • syndromic HCM
  • Liver disease, hepatomegaly, hypoketotic hypoglycaemia
  • Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) (severe form)
  • DCM, mixed
  • HCM
Tags
Green Green List (high evidence)
ACTA1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West 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
Green Green List (high evidence)
ACTC1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hypertrophic Cardiomyopathy
  • Cardiomyopathy, familial hypertrophic, 11
  • Cardiomyopathy, dilated, 1R
  • Left Ventricular Noncompaction Cardiomyopathy
  • Left ventricular noncompaction 4
Tags
Green Green List (high evidence)
ACTN2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Dilated Cardiomyopathy, Dominant
Tags
Green Green List (high evidence)
AGK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Sengers syndrome, 212350
Tags
Green Green List (high evidence)
AGL
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Hypertrophic-hypocontractile cardiomyopathy
  • Glycogen storage disease type IIIa (debrancher enzyme deficiency)
  • syndromic HCM
  • Glycogen storage disease IIIb, 232400
  • myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance
  • Ketotic hypoglycaemia, hyperlipidaemia, raised transaminases
  • Glycogen Storage Disease
  • Glycogen Storage Disease Type III
  • Glycogen storage disease IIIa, 232400
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disorders- Muscle
  • Glycogen storage disease type III, Cori (Glycogen storage disorders)
  • HCM
Tags
Green Green List (high evidence)
ALMS1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • OMIM 203800
Tags
Green Green List (high evidence)
ALPK3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cardiomyopathy, familial hypertrophic 27, 618052
Tags
Green Green List (high evidence)
ARSB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200
  • MUCOPOLYSACCHARIDOSIS TYPE 6
  • Mucopolysaccharidosis, Type VI
  • MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease)
  • Mucopolysaccharidosis Type VI
Tags
Green Green List (high evidence)
ATP5D
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, 618120
Tags
Green Green List (high evidence)
ATPAF2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
Tags
Green Green List (high evidence)
BAG3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1HH
Tags
Green Green List (high evidence)
BRAF
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Noonan syndrome 7 613706
  • Cardio-facio-cutaneous syndrome
  • Cardiofaciocutaneous syndrome 115150
  • Noonan Syndrome
  • syndromic HCM
  • Cardiofaciocutaneous Syndrome
  • LEOPARD Syndrome
  • LEOPARD syndrome 3
  • LEOPARD syndrome 3 613707
Tags
Green Green List (high evidence)
CACNA1C
1 review
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
CBL
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
Tags
Green Green List (high evidence)
CDH2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Tags
Green Green List (high evidence)
COA5
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Isolated complex IV deficiency
  • Mitochondrial complex IV deficiency, 220110
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • syndromic HCM
  • ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
Tags
Green Green List (high evidence)
COA6
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501
Tags
Green Green List (high evidence)
COX10
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
COX14
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
COX15
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
  • Leigh syndrome due to cytochrome c oxidase deficiency, 256000
Tags
Green Green List (high evidence)
COX20
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
COX6B1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
CPT2
3 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
  • South West GLH
Phenotypes
  • DCM
  • Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle)
  • Carnitine palmitoyltransferase II (CPT2) deficiency (neonatal & infantile forms)
  • HCM, mixed
  • Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia
  • CPT II deficiency, lethal neonatal 608836
  • CPT deficiency, hepatic, type II 600649
Tags
Green Green List (high evidence)
CSRP3
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 12
  • Cardiomyopathy, dilated, 1M
Tags
Green Green List (high evidence)
DES
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1I,
Tags
Green Green List (high evidence)
DMD
2 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Duchenne muscular dystrophy, 310200
  • Dilated Cardiomyopathy, X-Linked
  • Cardiomyopathy, dilated, 3B
  • Becker muscular dystrophy, 300376
Tags
Green Green List (high evidence)
DNAJC19
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West 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
Green Green List (high evidence)
DOLK
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West 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
Green Green List (high evidence)
DSC2
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair
  • Arrhythmogenic right ventricular dysplasia 11
Tags
Green Green List (high evidence)
DSG2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1BB,
  • Arrhythmogenic right ventricular dysplasia 10
Tags
Green Green List (high evidence)
DSP
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Dilated cardiomyopathy with woolly hair and keratoderma
  • Arrhythmogenic right ventricular dysplasia 8
Tags
Green Green List (high evidence)
EMD
2 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Emery-Dreifuss muscular dystrophy 1, X-linked, 310300
Tags
Green Green List (high evidence)
EPG5
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Vici syndrome, 242840
  • IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Tags
Green Green List (high evidence)
FAH
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Liver failure, vomiting, renal tubulopathy
  • Tyrosinemia, type I
  • Tyrosinaemia type 1 (fumarylactoacetase deficiency)
  • HCM
Tags
Green Green List (high evidence)
FHL1
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Tags
Green Green List (high evidence)
FHOD3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hypertrophic cardiomyopathy
Tags
Green Green List (high evidence)
FKTN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West 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)
FLNC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
GAA
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • MetBioNet
  • NHS GMS
  • South West GLH
Phenotypes
  • Hypotonia, muscle weakness, progressive respiratory failure
  • syndromic HCM
  • HCM, mixed
  • Glycogen storage disease II, 232300
  • Glycogen storage disease type II (Pompe disease)
Tags
Green Green List (high evidence)
GLB1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
  • South West GLH
Phenotypes
  • GM1-gangliosidosis, type I, 230500
  • Mucopolysaccharidosis type IVB (Morquio), 253010
  • GM1-gangliosidosis (Sphingolipidoses)
  • syndromic HCM
  • Mucopolysaccharidosis Type IVB
  • GM1-gangliosidosis, type II, 230600
  • MUCOPOLYSACCHARIDOSIS TYPE 4B
  • MPS IVB, Morquio B disease (MPS IV, Morquio disease)
  • GM1-gangliosidosis, type III, 230650
  • Mucopolysaccharidosis, Type IV
Tags
Green Green List (high evidence)
GUSB
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
  • South West GLH
Phenotypes
  • MPS VII, Sly disease (MPS IV, Morquio disease)
  • Mucopolysaccharidosis VII, 253220
  • MUCOPOLYSACCHARIDOSIS TYPE 7
  • syndromic HCM
  • Mucopolysaccharidosis Type VII
  • Mucopolysaccharidosis, Type VII
Tags
Green Green List (high evidence)
HADHA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
  • Trifunctional protein deficiency 609015
  • Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation)
  • Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism
  • Mitochondrial Trifunctional Protein deficiency
  • HCM
Tags
Green Green List (high evidence)
HADHB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • MetBioNet
  • NHS GMS
Phenotypes
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
  • Trifunctional protein deficiency 609015
  • Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation)
  • Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism
  • Mitochondrial Trifunctional Protein deficiency
  • HCM
Tags
Green Green List (high evidence)
HCN4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
HRAS
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Costello syndrome
  • syndromic HCM
Tags
Green Green List (high evidence)
IDH2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias)
  • D-2-hydroxyglutaric aciduria 2
  • D-2-hydroxyglutaric aciduria 2, 613657
Tags
Green Green List (high evidence)
IDS
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • MPS II, Hunter disease (Mucopolysaccharidoses)
  • MUCOPOLYSACCHARIDOSIS TYPE 2
  • Mucopolysaccharidosis II, 309900
  • Mucopolysaccharidosis Type II
Tags
Green Green List (high evidence)
IDUA
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • MPS I, Hurler, Scheie disease (Mucopolysaccharidoses)
  • Mucopolysaccharidosis type 1H/S
  • Mucopolysaccharidosis type 1S
  • Mucopolysaccharidosis Is, 607016
  • Hurler syndrome
  • Mucopolysaccharidosis Ih/s, 607015
  • Scheie syndrome
  • Mucopolysaccharidosis, Type I
  • Hurler-Scheie syndrome
  • Mucopolysaccharidosis Ih, 607014
  • Mucopolysaccharidosis type 1H
Tags
Green Green List (high evidence)
JPH2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
JUP
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 12
Tags
Green Green List (high evidence)
KRAS
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Noonan syndrome 3
  • Noonan syndrome
  • CFC syndrome
  • Cardiofaciocutaneous syndrome 2 615278
  • Noonan syndrome 3 609942
  • Cardiofaciocutaneous syndrome 2
  • Cardiofaciocutaneous Syndrome
  • Cardio-Facio-Cutaneous syndrome
Tags
Green Green List (high evidence)
LAMP2
2 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • syndromic HCM
  • Danon disease
Tags
Green Green List (high evidence)
LMNA
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Emery-Dreifuss muscular dystrophy 2, AD, 181350
  • Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic
  • Congenital Muscular Dystrophy, LMNA-related (Dominant)
  • Cardiomyopathy, dilated, 1A
Tags
Green Green List (high evidence)
LRPPRC
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Leigh syndrome, French-Canadian type, 220111
Tags
Green Green List (high evidence)
LZTR1
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Schwannomatosis-2, susceptibility to 615670
  • Noonan syndrome 10 616564
Tags
Green Green List (high evidence)
MAP2K1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • CFC syndrome
  • ?Noonan syndrome
  • syndromic HCM
  • LEOPARD syndrome
  • Cardiofaciocutaneous syndrome 3
  • Cardiofaciocutaneous Syndrome
  • Cardio-Facio-Cutaneous syndrome
Tags
Green Green List (high evidence)
MAP2K2
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardio-Facio-Cutaneous syndrome type 4
  • CFC syndrome
  • Cardiofaciocutaneous syndrome 4 615280
  • Cardiofaciocutaneous syndrome 4
  • syndromic HCM
  • Cardiofaciocutaneous Syndrome
  • Cardio-Facio-Cutaneous syndrome
Tags
Green Green List (high evidence)
MIB1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Left ventricular noncompaction 7
Tags
Green Green List (high evidence)
MLYCD
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism)
  • malonic aciduria
  • Hypertrophic-hypocontractile cardiomyopathy
  • Malonyl-CoA decarboxylase deficiency
  • Mild clinical features. Developmental delay, epilepsy
  • Malonic aciduria
  • Malonyl-CoA decarboxylase deficiency (Organic acidurias)
  • HCM
Tags
Green Green List (high evidence)
MRPL44
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 16, 615395
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
Green Green List (high evidence)
MUT
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
  • South West GLH
Phenotypes
  • DCM
  • Methylmalonic aciduria, mut(0) type 251000
  • Hypertrophic-hypocontractile cardiomyopathy
  • Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap
  • Methylmalonic aciduria
  • Methylmalonyl-CoA mutase deficiency (Organic acidurias)
  • metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.
Tags
Green Green List (high evidence)
MYBPC3
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 4,
  • Cardiomyopathy, dilated, 1MM
  • Hypertrophic cardiomyopathy
  • Left ventricular noncompaction 10,
Tags
Green Green List (high evidence)
MYH6
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1EE
  • Cardiomyopathy, familial hypertrophic, 14
Tags
Green Green List (high evidence)
MYH7
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hypertrophic cardiomyopathy
  • Cardiomyopathy, dilated, 1S
  • Left ventricular noncompaction 5
  • Cardiomyopathy, familial hypertrophic, 1,
Tags
Green Green List (high evidence)
MYL2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 10
Tags
Green Green List (high evidence)
MYL3
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 8,
Tags
Green Green List (high evidence)
MYPN
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomypathy, familial hypertrophic, 22,
  • Cardiomyopathy, dilated, 1KK
Tags
Green Green List (high evidence)
NDUFA1
3 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 12, 301020
Tags
Green Green List (high evidence)
NDUFA10
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 22, 618243
Tags
Green Green List (high evidence)
NDUFA11
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 14, 618236
Tags
Green Green List (high evidence)
NDUFA2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 13, 618235
Tags
Green Green List (high evidence)
NDUFAF1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 11, 618234
Tags
Green Green List (high evidence)
NDUFAF2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 10, 618233
Tags
Green Green List (high evidence)
NDUFAF3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 18, 618240
Tags
Green Green List (high evidence)
NDUFAF4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 15, 618237
Tags
Green Green List (high evidence)
NDUFAF5
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 16, 616238
Tags
Green Green List (high evidence)
NDUFB11
3 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex I deficiency, nuclear type 30, 301021
  • Linear skin defects with multiple congenital anomalies 3, 300952
Tags
Green Green List (high evidence)
NDUFB3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 25, 618246
Tags
Green Green List (high evidence)
NDUFS1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 5, 618226
Tags
Green Green List (high evidence)
NDUFS2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 6, 618228
Tags
Green Green List (high evidence)
NDUFS3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 8, 618230
Tags
Green Green List (high evidence)
NDUFS4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 1, 252010
Tags
Green Green List (high evidence)
NDUFS6
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 9, 618232
Tags
Green Green List (high evidence)
NDUFS7
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 3, 618224
Tags
Green Green List (high evidence)
NDUFS8
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 2, 618222
Tags
Green Green List (high evidence)
NDUFV1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 4, 618225
Tags
Green Green List (high evidence)
NDUFV2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 7, 618229
Tags
Green Green List (high evidence)
NEXN
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1CC
  • Cardiomyopathy, familial hypertrophic, 20,
Tags
Green Green List (high evidence)
NF1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Neurofibromatosis, type 1 162200
  • Noonan syndrome
  • Neurofibromatosis syndrome 1
  • Neurofibromatosis-Noonan syndrome 601321
  • Neurofibromatosis Noonan syndrome
  • Neurofibromatosis-Noonan Syndrome
Tags
Green Green List (high evidence)
NKX2-5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Atrialseptaldefect7,withorwithoutAVconductiondefects,108900
Tags
Green Green List (high evidence)
NONO
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
NRAS
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • CFC Syndrome
  • Noonan syndrome
  • Noonan syndrome 6
  • Noonan syndrome 6 613224
  • syndromic HCM
  • Cardio-Facio-cutanenous syndrome
Tags
Green Green List (high evidence)
NUBPL
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 21, 618242
Tags
Green Green List (high evidence)
PCCA
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
  • South West GLH
Phenotypes
  • DCM
  • Hypertrophic-hypocontractile cardiomyopathy
  • Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap
  • Propionicacidemia
  • Propionic aciduria
  • Propionicacidemia 606054
  • Propionic acidemia
  • Propionic aciduria (Organic acidurias)
  • metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections
Tags
Green Green List (high evidence)
PCCB
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
  • South West GLH
Phenotypes
  • as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections)
  • DCM
  • Hypertrophic-hypocontractile cardiomyopathy
  • Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap
  • Propionicacidemia
  • Propionic aciduria
  • Propionicacidemia 606054
  • Propionic acidemia
  • Propionic aciduria (Organic acidurias)
Tags
Green Green List (high evidence)
PDLIM3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Tags
Green Green List (high evidence)
PKP2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Arrhythmogenic right ventricular cardiomyopathy
  • Arrhythmogenic right ventricular dysplasia 9
Tags
Green Green List (high evidence)
PLN
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1P
  • Cardiomyopathy, familial hypertrophic, 18,
Tags
Green Green List (high evidence)
PNPLA2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
  • South West GLH
Phenotypes
  • DCM
  • Neutral lipid storage disease with myopathy NLSDM
  • Lipid myopathy, muscle weakness Jordans anomaly - neutral lipidcontaining vacuoles in leukocytes
Tags
Green Green List (high evidence)
PPA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Sudden cardiac failure, alcohol-induced, 617223
  • Sudden cardiac failure, infantile, 617222
Tags
Green Green List (high evidence)
PPCS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cardiomyopathy, dilated, 2C, 618189
Tags
Green Green List (high evidence)
PPP1CB
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Rasopathy with developmental delay, short stature and sparse slow-growing hair
  • Noonan syndrome-like disorder with loose anagen hair 2, 617506
Tags
Green Green List (high evidence)
PPP1R13L
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • sudden cardiac death
  • cardio-cutaneous syndrome
Tags
Green Green List (high evidence)
PRKAG2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLHSouth West GLH
  • NHS GMS
Phenotypes
  • Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
  • Cardiomyopathy, familial hypertrophic 6,
  • syndromic HCM
Tags
Green Green List (high evidence)
PTPN11
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Noonan syndrome 1
  • LEOPARD syndrome 1 151100
  • LEOPARD syndrome 1
  • Noonan syndrome 1 163950
  • Noonan syndrome
  • syndromic HCM
  • LEOPARD syndrome
Tags
Green Green List (high evidence)
RAF1
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Noonan syndrome 5
  • Noonan syndrome
  • Noonan syndrome 5 611553
  • LEOPARD syndrome 2 611554
  • syndromic HCM
  • LEOPARD syndrome
  • LEOPARD syndrome 2
Tags
Green Green List (high evidence)
RBM20
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1DD
Tags
Green Green List (high evidence)
RIT1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Noonan syndrome 8
  • Noonan syndrome type 8
  • Noonan syndrome 8 615355
Tags
Green Green List (high evidence)
RYR2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 2, 600996
  • Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy
Tags
Green Green List (high evidence)
SCN5A
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Dilated cardiomyopathy
  • Long QT syndrome
  • Brugada syndrome
  • Cardiomyopathy, dilated, 1E
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
Green Green List (high evidence)
SCO1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
SCO2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Isolated complex IV deficiency
  • Mitochondrial Diseases
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • syndromic HCM
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377
  • Myopia 6, 608908
  • Mitochondrial Respiratory Chain Complex IV Deficiency
Tags
Green Green List (high evidence)
SDHA
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West 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)
SDHAF1
5 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial respiratory chain complex II deficiency, 252011
Tags
Green Green List (high evidence)
SDHD
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial respiratory chain complex II deficiency, 252011
Tags
Green Green List (high evidence)
SGCD
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1L, 606685
Tags
Green Green List (high evidence)
SHOC2
5 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Noonan-like syndrome with loose anagen hair
  • syndromic HCM
Tags
Green Green List (high evidence)
SLC22A5
3 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
  • South West GLH
Phenotypes
  • DCM
  • Propionicacidemia
  • Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle)
  • Arrhythmia, muscle weakness or hypotonia, liver disease, hypoketotic hypoglycaemia
  • HCM, mixed
  • Carnitine transporter deficiency (primary carnitine deficiency)
Tags
Green Green List (high evidence)
SLC25A20
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
  • South West GLH
Phenotypes
  • Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia
  • Carnitine-acylcarnitine translocase deficiency 212138
  • Carnitine acylcarnitines translocase deficiency CAT
  • HCM, DCM
  • Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle)
Tags
Green Green List (high evidence)
SLC25A4
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418
  • Disorders of mitochondrial protein transport
  • Hypertrophic cardiomyopathy
  • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283
  • Disorders of mitochondrial DNA maintenance and integrity
Tags
Green Green List (high evidence)
SOS1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Noonan syndrome 4 610733
  • syndromic HCM
  • Noonan syndrome
  • Noonan syndrome 4
Tags
Green Green List (high evidence)
SOS2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert List
  • Expert Review Green
  • London South GLH
  • NHS GMS
Phenotypes
  • Noonan syndrome 9 616559
  • Noonan syndrome 9
Tags
Green Green List (high evidence)
SURF1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, type 4K, 616684
  • Leigh syndrome, due to COX IV deficiency, 256000
Tags
Green Green List (high evidence)
TAZ
3 reviews
3 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London South GLH
  • MetBioNet
  • NHS GMS
  • South West GLH
Phenotypes
  • Disorders of mitochondrial lipid metabolism
  • Dilated Cardiomyopathy, X-Linked
  • Neutropenia, muscle weakness, growth retardation
  • Non-compaction cardiomyopathy
  • Barth syndrome, 302060
  • Left Ventricular Noncompaction Cardiomyopathy
  • HCM, mixed
  • Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Barth syndrome
  • Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias)
Tags
Green Green List (high evidence)
TMEM126B
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 29, 618250
Tags
Green Green List (high evidence)
TMEM43
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 5
  • Emery-Dreifuss muscular dystrophy 7, AD 614302
Tags
Green Green List (high evidence)
TMEM70
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
Tags
Green Green List (high evidence)
TNNC1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1Z
  • Cardiomyopathy, familial hypertrophic, 13,
Tags
Green Green List (high evidence)
TNNI3
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hypertrophic cardiomyopathy
  • Cardiomyopathy, familial hypertrophic, 7
  • Cardiomyopathy, dilated, 1FF
  • Cardiomyopathy, dilated, 2A,
Tags
Green Green List (high evidence)
TNNI3K
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cardiac conduction disease with or without dilated cardiomyopathy 616117
Tags
Green Green List (high evidence)
TNNT2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1D
  • Cardiomyopathy, familial hypertrophic, 2
  • Hypertrophic cardiomyopathy
  • Left ventricular noncompaction 6,
Tags
Green Green List (high evidence)
TPM1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 3
  • Cardiomyopathy, dilated, 1Y
  • Left ventricular noncompaction 9,
Tags
Green Green List (high evidence)
TSFM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Combined oxidative phosphorylation deficiency 3, 610505
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Combined oxidative phosphorylation deficiency 3 610505
Tags
Green Green List (high evidence)
TTN
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 9,
  • Cardiomyopathy, dilated, 1G
Tags
Green Green List (high evidence)
TTR
4 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • syndromic HCM
Tags
Green Green List (high evidence)
VCL
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 15,
  • Cardiomyopathy, dilated, 1W
Tags
Amber Amber List (moderate evidence)
ANK2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
COX7B
3 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 Amber
  • MetBioNet
  • NHS GMS
Phenotypes
  • Linear skin defects with multiple congenital anomalies 2, 300887
Tags
Amber Amber List (moderate evidence)
CRYAB
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
Phenotypes
  • Myopathy, myofibrillar, fatal infantile hypertrophy, alpha B crystallin related, 613869
  • Cardiomyopathy, dilated, 1II,
Tags
Amber Amber List (moderate evidence)
EYA4
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1J
Tags
Amber Amber List (moderate evidence)
FASTKD2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • MetBioNet
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex IV deficiency, 220110
Tags
Amber Amber List (moderate evidence)
FKRP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
FOXRED1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 19, 618241
Tags
Amber Amber List (moderate evidence)
GATA6
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
GLA
3 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 Amber
  • London South GLH
  • MetBioNet
  • NHS GMS
  • South West GLH
Phenotypes
  • Fabry disease, 301500
  • HCM is a late complication in adults, also found in female carriers
  • Limb pain, angiokeratom
  • syndromic HCM
  • Fabry disease, cardiac variant, 301500
  • Fabry disease (Sphingolipidoses)
  • Fabry Disease
  • Fabry disease
  • HCM
Tags
Amber Amber List (moderate evidence)
HFE
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • MetBioNet
  • NHS GMS
Phenotypes
  • DCM
  • Iron overload, liver disease, diabetes, hypogonadism
  • Hypertrophic-hypocontractile cardiomyopathy
  • Hereditary haemochromatosis Type 1 (Disorder of iron metabolism)
  • Haemochromatosis
  • Hemochromatosis, 235200
  • Hemochromatosis
  • HCM
Tags
Amber Amber List (moderate evidence)
HGSNAT
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mucopolysaccharidosis Type IIIC
  • MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses)
  • Retinitis Pigmentosa 73
  • Mucopolysaccharidosis, Type III
  • Mucopolysaccharidosis Type III
  • Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930
Tags
Amber Amber List (moderate evidence)
LDB3
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • South West GLH
Phenotypes
  • Left ventricular noncompaction 3, with or without dilated cardiomyopathy
  • Cardiomyopathy, dilated 1C
Tags
Amber Amber List (moderate evidence)
MMACHC
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • MetBioNet
  • NHS GMS
  • South West GLH
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, 277400
  • DCM
  • Methylmalonic aciduria
  • Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap
  • Hypertrophic-hypocontractile cardiomyopathy
Tags
Amber Amber List (moderate evidence)
MT-TI
1 review
MITOCHONDRIAL
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
NAA15
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
NAGLU
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920
  • Mucopolysaccharidosis Type IIIB
  • MUCOPOLYSACCHARIDOSIS TYPE 3B
  • Mucopolysaccharidosis, Type III
  • Mucopolysaccharidosis Type III
  • MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses)
Tags
Amber Amber List (moderate evidence)
NDUFA4
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • MetBioNet
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
NDUFB8
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 32, 618252
Tags
Amber Amber List (moderate evidence)
PET100
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Amber Amber List (moderate evidence)
RASA2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London South GLH
  • NHS GMS
Phenotypes
  • Noonan syndrome?
Tags
Amber Amber List (moderate evidence)
SGSH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mucopolysaccharidosis, Type III
  • MUCOPOLYSACCHARIDOSIS TYPE 3A
  • MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses)
  • Mucopolysaccharidosis Type III
  • Mucopolysaccharidosis Type IIIA
Tags
Amber Amber List (moderate evidence)
UQCC2
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 7, 615824
Tags
Red Red List (low evidence)
ANKRD1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Dilated Cardiomyopathy, Dominant
Tags
Red Red List (low evidence)
APOPT1
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Red Red List (low evidence)
B3GAT3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London South GLH
  • NHS GMS
Phenotypes
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600
  • B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Red Red List (low evidence)
BCS1L
3 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 1, 124000
  • Leigh syndrome, 256000
Tags
Red Red List (low evidence)
BTK
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
COA7
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • MetBioNet
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
Tags
Red Red List (low evidence)
COX6A1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • MetBioNet
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Tags
Red Red List (low evidence)
CPS1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London South GLH
  • NHS GMS
Phenotypes
  • Carbamoylphosphate synthetase I deficiency
  • Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias)
Tags
Red Red List (low evidence)
CTF1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Tags
Red Red List (low evidence)
CYC1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 6, 615453
Tags
Red Red List (low evidence)
DHCR7
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London South GLH
  • NHS GMS
Phenotypes
  • Cataracts
  • Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis)
  • Disorders of sex development
  • IUGR and IGF abnormalities
  • Intellectual disability
Tags
Red Red List (low evidence)
DTNA
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Left ventricular noncompaction 1, with or without congenital heart defects,
Tags
Red Red List (low evidence)
ETFA
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • MetBioNet
  • NHS GMS
Phenotypes
  • Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II)
  • Glutaric acidemia IIA
  • Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia
  • Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation)
  • HCM
Tags
Red Red List (low evidence)
ETFB
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • MetBioNet
  • NHS GMS
Phenotypes
  • Glutaric acidemia IIB
  • Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II)
  • Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia
  • Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation)
  • HCM
Tags
Red Red List (low evidence)
ETFDH
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • MetBioNet
  • NHS GMS
Phenotypes
  • Disorders of ubiquinone metabolism and biosynthesis
  • GLUTARIC ACIDURIA TYPE 2C
  • Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation)
  • Glutaric acidemia IIC
  • Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II)
  • Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia
  • HCM
Tags
Red Red List (low evidence)
GALNS
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mucopolysaccharidosis IVA, 253000
  • Mucopolysaccharidosis Type IVA
  • MUCOPOLYSACCHARIDOSIS TYPE 4A
  • Mucopolysaccharidosis, Type IV
  • MPS IVA, Morquio A disease (MPS IV, Morquio disease)
Tags
Red Red List (low evidence)
GBE1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • MetBioNet
  • NHS GMS
  • South West GLH
Phenotypes
  • DCM
  • Glycogen Storage Disease Type IV
  • Hypertrophic-hypocontractile cardiomyopathy
  • Polyglucosan body disease, adult form, 263570
  • Glycogen Storage Disease
  • failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties
  • Glycogen storage disease type IV (brancher enzyme deficiency), neuromuscular form
  • hypotonia, exercise intolerance, polyglucosan bodies in affected tissues
  • Glycogen storage disease type IV, Andersen (Glycogen storage disorders)
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disorders- Muscle
  • Glycogen storage disease IV, 232500
Tags
Red Red List (low evidence)
GLRA1
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London South GLH
  • NHS GMS
Phenotypes
  • Hyperekplexia, hereditary 1, 149400
Tags
Red Red List (low evidence)
GNS
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mucopolysaccharidosis type IIID, 252940
  • Mucopolysaccharidosis, Type III
  • MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses)
  • Mucopolysaccharidosis Type IIID
  • Mucopolysaccharidosis Type III
Tags
Red Red List (low evidence)
ILK
2 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Tags
Red Red List (low evidence)
17q11.2 recurrent region (includes NF1) Loss
ISCA-37431-Loss
Region
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • dysmorphic features, cardiac anomalies and mental retardation
  • 613675
  • variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors
  • NF1 MICRODELETION SYNDROME
  • NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME
  • Chromosome 17q11.2 deletion syndrome, 1.4Mb
Tags
Red Red List (low evidence)
LAMA4
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Tags
Red Red List (low evidence)
LYRM7
4 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 8, 615838
Tags
Red Red List (low evidence)
NDUFA6
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 33, 618253
Tags
Red Red List (low evidence)
NDUFA9
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 26, 618247
Tags
Red Red List (low evidence)
NDUFAF6
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • MetBioNet
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 17, 612392
Tags
Red Red List (low evidence)
NDUFAF8
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • MetBioNet
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
NEBL
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Tags
Red Red List (low evidence)
SPRED1
4 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Legius syndrome 611431
Tags
Red Red List (low evidence)
TAB2
3 reviews
1 red
Not set
Sources
  • Expert Review Red
  • London South GLH
  • NHS GMS
Tags
Red Red List (low evidence)
TACO1
4 reviews
2 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Red Red List (low evidence)
TCAP
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Congenital muscular dystrophies
  • Cardiomyopathy, dilated, 1N
Tags
Red Red List (low evidence)
TGFB3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London South GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 1
Tags
Red Red List (low evidence)
TMPO
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Dilated Cardiomyopathy, Dominant
Tags
Red Red List (low evidence)
TTC19
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 2, 615157
Tags
Red Red List (low evidence)
UQCRB
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 3, 615158
Tags

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