Description
This panel is used for clinical indication 'R441 Unexplained death in infancy and sudden unexplained death in childhood'.

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 'R441 Unexplained death in infancy and sudden unexplained death in childhood'.

This panel is a super panel composed of constituent panels.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This is comprised of:
- R59 Early onset or syndromic epilepsy, version 5.0 : https://panelapp.genomicsengland.co.uk/api/v1/panels/402/?version=5.0
- R98 Likely inborn error of metabolism - targeted testing not possible, version 5.0 : https://panelapp.genomicsengland.co.uk/api/v1/panels/467/?version=5.0
- R127 Long QT syndrome, version 3.7 : https://panelapp.genomicsengland.co.uk/api/v1/panels/76/?version=3.7
- R135 Paediatric or syndromic cardiomyopathy, version 4.0 : https://panelapp.genomicsengland.co.uk/api/v1/panels/749/?version=4.0
- R128 Brugada syndrome and cardiac sodium channel disease, version 3.9:
https://panelapp.genomicsengland.co.uk/api/v1/panels/13/?version=3.9
- R129 Catecholaminergic polymorphic VT, version 4.5 :
https://panelapp.genomicsengland.co.uk/api/v1/panels/214/?version=4.5
- R130 Short QT syndrome, version 3.11 :
https://panelapp.genomicsengland.co.uk/api/v1/panels/224/?version=3.11
- R131 Hypertrophic cardiomyopathy, version 4.8 :
https://panelapp.genomicsengland.co.uk/api/v1/panels/49/?version=4.8
- R132 Dilated and arrhythmogenic cardiomyopathy, version 2.23 :
https://panelapp.genomicsengland.co.uk/api/v1/panels/652/?version=2.23
- R133 Arrhythmogenic right ventricular cardiomyopathy, version 3.10 :
https://panelapp.genomicsengland.co.uk/api/v1/panels/134/?version=3.10
- R328 Progressive cardiac conduction disease, version 2.7 :
https://panelapp.genomicsengland.co.uk/api/v1/panels/506/?version=2.7


This panel is a super panel composed of the constituent panel(s) as defined in the link(s) above. Changes made to the constituent panel(s) will automatically be updated in the super panel and the version will be updated.

The constituent panels will continue to be curated based on external reviews and Genomics England curation. 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. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

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.

One or more of the constituent panels of this super panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

2291 Entities

2150 reviewed, 1565 green

List Entity Reviews Mode of inheritance Details
2291 Entitiess
Green Green List (high evidence)
AARS
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 29, OMIM:616339
  • Developmental and epileptic encephalopathy, 29, MONDO:0014593
Tags
  • new-gene-name
Green Green List (high evidence)
AARS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 8, 614096
  • infantile mitochondrial cardiomyopathy
Tags
Green Green List (high evidence)
AARS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
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)
AASS
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hyperlysinemia, OMIM:238700
  • Hyperlysinemia (disease), MONDO:0009388
Tags
Green Green List (high evidence)
ABAT
5 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • 613163
  • GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate)
  • mtDNA depletion syndrome
Tags
Green Green List (high evidence)
ABAT
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Literature
Phenotypes
  • GABA-transaminase deficiency 613163
Tags
Green Green List (high evidence)
ABCA1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Tangier disease (Disorders of high density lipoprotein metabolism)
Tags
Green Green List (high evidence)
ABCB11
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Progressive familial intrahepatic cholestasis type 2 (Disorders of bile acid metabolism and transport)
  • Cholestasis, benign recurrent intrahepatic, 2 605479
  • Cholestasis, progressive familial intrahepatic 2 601847
Tags
Green Green List (high evidence)
ABCB4
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Gallbladder disease 1 600803 AD, AR
  • Cholestasis, progressive familial intrahepatic 3 602347 AR
  • Progressive familial intrahepatic cholestasis type 3 (Disorders of bile acid metabolism and transport)
  • Cholestasis, intrahepatic, of pregnancy, 3 614972 AD, AR
Tags
Green Green List (high evidence)
ABCB7
5 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Anemia, sideroblastic, with ataxia OMIM:301310
  • X-linked sideroblastic anemia with ataxia MONDO:0010524
Tags
Green Green List (high evidence)
ABCC9
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Green
Phenotypes
  • Dilated Cardiomyopathy, Dominant
  • Cardiomyopathy, dilated, 1O
Tags
Green Green List (high evidence)
ABCD1
2 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • X-linked adrenoleukodystrophy (Disorders of peroxisomal alpha-, beta and omega-oxidation)
  • Adrenoleukodystrophy 300100
Tags
Green Green List (high evidence)
ABCD4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblJ type
Tags
Green Green List (high evidence)
ABCG5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Sitosterolaemia (Inherited hypercholesterolaemias)
  • Familial hypercholesterolaemia
Tags
Green Green List (high evidence)
ABCG8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Sitosterolaemia (Inherited hypercholesterolaemias)
  • Familial hypercholesterolaemia
Tags
Green Green List (high evidence)
ABHD12
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hereditary ataxia
  • Posterior segment abnormalities
  • Congenital hearing impairment (profound/severe)
  • PHARC syndrome (Disorders of complex lipid synthesis)
Tags
Green Green List (high evidence)
ABHD5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Chanarin-Dorfman syndrome 275630
  • Neutral lipid storage disease (Disorders of lipolysis)
Tags
Green Green List (high evidence)
ACACA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Acetyl-CoA carboxylase deficiency, OMIM: 613933
Tags
Green Green List (high evidence)
ACAD8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Isobutyric aciduria (Organic acidurias)
Tags
Green Green List (high evidence)
ACAD9
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency due to ACAD9 deficiency
  • ACAD9 deficiency, 611126
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Isolated complex I deficiency
Tags
Green Green List (high evidence)
ACAD9
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • MetBioNet
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 20, 611126
Tags
Green Green List (high evidence)
ACADM
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of
  • Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
Tags
Green Green List (high evidence)
ACADS
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Acyl-CoA dehydrogenase, short-chain, deficiency of
Tags
Green Green List (high evidence)
ACADSB
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • 2-methylbutyrylglycinuria 610006
  • 2-Methylbutyric aciduria (Organic acidurias)
Tags
Green Green List (high evidence)
ACADVL
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • VLCAD deficiency
  • Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
Tags
Green Green List (high evidence)
ACADVL
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • MetBioNet
  • Expert Review Green
  • Expert Review Green
  • MetBioNet
  • 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)
ACAT1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism)
  • Fasting intolerance with acidosis, ? residual neurological problems
  • 3-Oxothiolase deficiency (Organic acidurias)
Tags
Green Green List (high evidence)
ACO2
5 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Infantile cerebellar-retinal degeneration, 614559
Tags
Green Green List (high evidence)
ACOX1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
Tags
Green Green List (high evidence)
ACOX1
5 reviews
2 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
  • Mitchell syndrome, OMIM:618960
Tags
Green Green List (high evidence)
ACSF3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Combined methylmalonic and malonic aciduria (Organic acidurias)
  • Combined malonic and methylmalonic aciduria
Tags
Green Green List (high evidence)
ACTA1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • South West GLH
  • London South GLH
  • Expert Review Green
Phenotypes
  • Dilated cardiomyopathy, MONDO:0005021
  • Hypertrophic cardiomyopathy, MONDO:0005045
  • Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
  • CMD with rigid spine
  • Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310
Tags
Green Green List (high evidence)
ACTC1
7 reviews
3 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, hypertrophic, 11 (612098)
  • Left ventricular noncompaction 4 (613424)
  • Cardiomyopathy, dilated, 1R (613424)
  • Cardiomyopathy, dilated, 1R
  • Atrial septal defect 5 (612794)
Tags
Green Green List (high evidence)
ACTC1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • South West GLH
  • London South GLH
  • Expert Review Green
Phenotypes
  • Hypertrophic Cardiomyopathy
  • Cardiomyopathy, familial hypertrophic, 11
  • Cardiomyopathy, dilated, 1R
  • Left Ventricular Noncompaction Cardiomyopathy
  • Left ventricular noncompaction 4
Tags
Green Green List (high evidence)
ACTC1
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • UKGTN
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 11
  • Atrial septal defect 5 (612794)
  • Left ventricular noncompaction 4 (613424)
  • Cardiomyopathy, hypertrophic, 11 (612098)
  • Cardiomyopathy, dilated, 1R (613424)
  • Hypertrophic Cardiomyopathy
Tags
Green Green List (high evidence)
ACTL6B
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 76, OMIM:618468
Tags
Green Green List (high evidence)
ACTN2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • South West GLH
  • London South GLH
  • Expert Review Green
Phenotypes
  • Dilated Cardiomyopathy, Dominant
Tags
Green Green List (high evidence)
ACTN2
8 reviews
3 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • South West GLH
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158)
  • Cardiomyopathy, dilated, 1AA, with or without LVNC (612158)
  • Dilated Cardiomyopathy, Dominant
Tags
Green Green List (high evidence)
ACTN2
7 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
  • London South GLH
  • Wessex and West Midlands GLH
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cardiomyopathy, dilated, 1AA, with or without LVNC 612158
  • Cardiomyopathy, hypertrophic, 23, with or without LVNC 612158
Tags
Green Green List (high evidence)
ACY1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Intellectual disability
  • Aminoacylase 1 deficiency (Organic acidurias)
Tags
Green Green List (high evidence)
ADA
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Severe combined immunodeficiency due to ADA deficiency, OMIM:102700
  • Adenosine deaminase deficiency, partial, OMIM:102700
Tags
Green Green List (high evidence)
ADAR
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aicardi-Goutieres syndrome 6, OMIM:615010
Tags
Green Green List (high evidence)
ADAR
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome 6, OMIM:615010
  • Dyschromatosis symmetrica hereditaria, OMIM:127400
Tags
Green Green List (high evidence)
ADARB1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862
Tags
Green Green List (high evidence)
ADGRG1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polymicrogyria, bilateral frontoparietal, 606854
Tags
Green Green List (high evidence)
ADPRHL2
6 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170
  • neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095
Tags
  • new-gene-name
Green Green List (high evidence)
ADSL
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Intellectual disability
  • Epileptic encephalopathy
  • Adenylosuccinate lyase deficiency (Disorders of purine metabolism)
Tags
Green Green List (high evidence)
ADSL
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • UKGTN
  • Expert
  • Expert Review Green
Phenotypes
  • Adenylosuccinase deficiency
Tags
Green Green List (high evidence)
AFF3
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Literature
Phenotypes
  • KINSSHIP syndrome, OMIM:619297
Tags
  • missense
Green Green List (high evidence)
AFG3L2
4 reviews
2 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Optic atrophy 12, OMIM:618977
  • Spinocerebellar ataxia 28, OMIM:610246
  • Spastic ataxia 5, autosomal recessive, OMIM:614487
Tags
Green Green List (high evidence)
AGA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Aspartylglucosaminuria
Tags
Green Green List (high evidence)
AGK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Sengers syndrome, 212350
Tags
Green Green List (high evidence)
AGK
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Mitochondrial DNA depletion syndrome 10
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Acylglycerol kinase deficiency (Senger syndrome) (Disorders of complex lipid synthesis)
  • Sengers syndrome, 212350
  • Sengers syndrome 212350
  • Disorders of mitochondrial lipid metabolism
  • Cataract 38, autosomal recessive, 614691
Tags
Green Green List (high evidence)
AGL
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Glycogen storage disease type III, Cori (Glycogen storage disorders)
  • Glycogen storage disease IIIb, 232400
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease
  • myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance
  • Glycogen Storage Disease Type III
  • Glycogen Storage Disorders- Muscle
  • Glycogen storage disease IIIa, 232400
Tags
Green Green List (high evidence)
AGO1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, OMIM:620292
Tags
Green Green List (high evidence)
AGPS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 3 600121
  • Rhizomelic chondrodysplasia punctata type 3 (Peroxisomal disorders)
Tags
Green Green List (high evidence)
AGXT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Primary hyperoxaluria type I (Other peroxisomal disorders)
  • Primary hyperoxaluria type I (Disorders of glyoxylate metabolism)
  • Hyperoxaluria, primary, type 1
Tags
Green Green List (high evidence)
AHCY
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752
  • Disorders of the metabolism of sulphur amino acids
Tags
  • treatable
Green Green List (high evidence)
AIFM1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Disorders of mitochondrial apoptosis
  • Cowchock syndrome, 310490
  • Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Combined oxidative phosphorylation deficiency 6, 300816
Tags
Green Green List (high evidence)
AIMP1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, hypomyelinating, 3, OMIM:260600
Tags
Green Green List (high evidence)
AKR1D1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ?4-3-oxysterol 5?-reductase deficiency (Disorders of bile acid biosynthesis)
  • Bile acid synthesis defect, congenital, 2 235555
Tags
Green Green List (high evidence)
AKT3
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Tags
Green Green List (high evidence)
ALAD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • {Lead poisoning, susceptibility to} 612740
  • Acute hepatic porphyria (Acute neuropathic porphyrias)
  • Porphyria, acute hepatic 612740
Tags
Green Green List (high evidence)
ALAS2
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
  • Expert list
  • London North GLH
  • NHS GMS
Phenotypes
  • Anemia, sideroblastic, 1, OMIM:300751
  • Protoporphyria, erythropoietic, X-linked, OMIM:300752
Tags
Green Green List (high evidence)
ALDH18A1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cutis laxa, autosomal dominant 3 OMIM:616603
  • cutis laxa, autosomal dominant 3 MONDO:0014706
  • Cutis laxa, autosomal recessive, type IIIA OMIM:219150
  • ALDH18A1-related de Barsy syndrome MONDO:0009053
  • Spastic paraplegia 9A, autosomal dominant OMIM:601162
  • hereditary spastic paraplegia 9A MONDO:0011006
  • Spastic paraplegia 9B, autosomal recessive OMIM:616586
  • autosomal recessive complex spastic paraplegia type 9B MONDO:0014702
Tags
Green Green List (high evidence)
ALDH3A2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Sjogren-Larsson syndrome, OMIM:270200
Tags
Green Green List (high evidence)
ALDH4A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Intellectual disability
  • Hyperprolinaemia type II (Disorders of ornithine or proline metabolism)
  • Hyperprolinemia, type II
Tags
Green Green List (high evidence)
ALDH5A1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Succinic semialdehyde dehydrogenase deficiency OMIM:271980
  • succinic semialdehyde dehydrogenase deficiency MONDO:0010083
Tags
Green Green List (high evidence)
ALDH5A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Succinic semialdehyde dehydrogenase deficiency OMIM:271980
  • succinic semialdehyde dehydrogenase deficiency MONDO:0010083
Tags
Green Green List (high evidence)
ALDH6A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Methylmalonate semialdehyde dehydrogenase deficiency 614105
  • 3-Hydroxyisobutyric aciduria (Organic acidurias)
  • Methylmalonate semialdehyde dehydrogenase deficiency (Organic acidurias)
Tags
Green Green List (high evidence)
ALDH7A1
9 reviews
2 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert
Phenotypes
  • Epilepsy, pyridoxine-dependent 266100
Tags
  • treatable
Green Green List (high evidence)
ALDH7A1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Epilepsy, pyridoxine-dependent
Tags
Green Green List (high evidence)
ALDOA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Glycogen Storage Disease
  • Aldolase A deficiency (Glycogen storage disorders)
  • Glycogen storage disease XII, 611881
Tags
Green Green List (high evidence)
ALDOB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • hereditary fructose intolerance
  • Hereditary fructose intolerance (Disorders of fructose metabolism)
  • acidosis with ketototic hypoglycaemia often hepatomegaly in acute presentation
Tags
Green Green List (high evidence)
ALG1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ik 608540
Tags
Green Green List (high evidence)
ALG1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Ik 608540
Tags
Green Green List (high evidence)
ALG11
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Other
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ip
Tags
Green Green List (high evidence)
ALG11
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ALG11-CDG (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Ip 613661
Tags
Green Green List (high evidence)
ALG12
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ig 607143
  • Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
ALG13
7 reviews
5 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • UKGTN
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Is
  • Infantile spasms and LGS
Tags
Green Green List (high evidence)
ALG14
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital myasthenic syndrome
  • ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227
Tags
Green Green List (high evidence)
ALG14
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227
  • Congenital myasthenic sydrome (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
ALG3
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Id 601110
Tags
Green Green List (high evidence)
ALG3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Id 601110
  • Mannosyltransferase 6 deficiency (Disorders of protein N-glycosylation)
  • ALG3-CDG (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
ALG6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ic 603147
  • Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
ALG6
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ic 603147
Tags
Green Green List (high evidence)
ALG8
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ih 608104
Tags
Green Green List (high evidence)
ALG8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Ih 608104
Tags
Green Green List (high evidence)
ALG9
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation)
  • ALG9-CDG (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Il 608776
Tags
Green Green List (high evidence)
ALG9
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation type Il 608776
Tags
Green Green List (high evidence)
ALKBH8
7 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 71, OMIM:618504
Tags
Green Green List (high evidence)
ALMS1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • OMIM 203800
Tags
Green Green List (high evidence)
ALPK3
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Cardiomyopathy, familial hypertrophic 27, OMIM:618052
Tags
Green Green List (high evidence)
ALPK3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, familial hypertrophic 27, 618052
Tags
Green Green List (high evidence)
ALPL
1 review
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hypophosphatasia, adult 146300
  • Hypophosphatasia, childhood 241510
  • Hypophosphatasia, infantile241500
  • Odontohypophosphatasia 146300
Tags
Green Green List (high evidence)
ALPL
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypophosphatasia, adult 146300 AD, AR
  • Hypophosphatasia, childhood 241510 AR
  • Hypophosphatasia, infantile 241500 AR
  • Odontohypophosphatasia 146300 AD, AR
Tags
Green Green List (high evidence)
AMACR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Alpha-methylacyl-CoA racemase deficiency
  • Alpha-methylacyl-CoA racemase deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
Tags
Green Green List (high evidence)
AMN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Intrinsic factor receptor deficiency due to AMN mutations (Disorders of cobalamin absorption, transport and metabolism)
  • Proteinuric renal disease
  • Unexplained kidney failure in young people
Tags
Green Green List (high evidence)
AMPD2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 9 615809
Tags
Green Green List (high evidence)
AMT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Glycine encephalopathy
Tags
Green Green List (high evidence)
AMT
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycine encephalopathy 605899
Tags
Green Green List (high evidence)
ANKRD11
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • KBG syndrome, 148050
Tags
Green Green List (high evidence)
ANO10
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 10, 613728
Tags
Green Green List (high evidence)
AP1G1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder (NDD)
  • Intellectual Disability
  • Epilepsy
Tags
Green Green List (high evidence)
AP2M1
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review
  • Expert Review Green
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Intellectual developmental disorder 60 with seizures, 618587
  • Seizures
  • Ataxia
  • Generalized hypotonia
  • Intellectual disability
  • Global developmental delay
  • Autistic behavior
Tags
  • missense
Green Green List (high evidence)
AP3B2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Literature
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 48 617276
Tags
Green Green List (high evidence)
APC2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 10 OMIM:618677
Tags
Green Green List (high evidence)
APOA1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Amyloidosis, 3 or more types OMIM:105200
  • familial visceral amyloidosis MONDO:0007099
  • ApoA-I and apoC-III deficiency, combined OMIM:618463
  • Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding OMIM:618463
  • hypoalphalipoproteinemia, primary, 2 MONDO:0032766
Tags
Green Green List (high evidence)
APOA5
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hyperchylomicronemia, late-onset OMIM:144650
  • hyperlipoproteinemia type V MONDO:0007762
  • {Hypertriglyceridemia, susceptibility to} OMIM:145750
  • hypertriglyceridemia, familial MONDO:0007788
Tags
Green Green List (high evidence)
APOB
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hypercholesterolemia, familial, 2 OMIM:144010
  • hypercholesterolemia, autosomal dominant, type B MONDO:0007751
  • Hypobetalipoproteinemia OMIM:615558
  • familial hypobetalipoproteinemia 1 MONDO:0014252
Tags
Green Green List (high evidence)
APOC2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hyperlipoproteinemia, type Ib 207750
  • Familial apolipoprotein C - II deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias)
Tags
Green Green List (high evidence)
APOE
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Familial dysbetalipoproteinaemia (Inherited mixed hyperlipidaemias)
  • Hyperlipoproteinemia, type III 617347
  • Sea-blue histiocyte disease 269600
  • Lipoprotein glomerulopathy 611771
Tags
Green Green List (high evidence)
APOPT1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
  • Isolated complex IV deficiency
Tags
  • new-gene-name
Green Green List (high evidence)
APRT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Adenine phosphoribosyltransferase deficiency 614723
  • Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism)
Tags
Green Green List (high evidence)
APTX
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Ataxia with oculomotor apraxia 1
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
  • Disorders of ubiquinone metabolism and biosynthesis
Tags
Green Green List (high evidence)
ARF1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Periventricular nodular heterotopia 8, OMIM:618185
Tags
Green Green List (high evidence)
ARF3
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Global developmental delay
  • Intellectual disability, MONDO:0001071
  • Seizures
  • Morphological abnormality of the central nervous system
  • microcephaly, MONDO:0001149
Tags
  • gene-checked
Green Green List (high evidence)
ARFGEF1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability, MONDO:0001071
  • Epilepsy, MONDO:0005027
  • Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures, OMIM:619964
Tags
Green Green List (high evidence)
ARFGEF2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Periventricular heterotopia with microcephaly 608097
Tags
Green Green List (high evidence)
ARG1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Argininemia, OMIM:207800
Tags
Green Green List (high evidence)
ARG1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Argininaemia (Urea cycle disorders and inherited hyperammonaemias)
  • Argininemia, OMIM:207800
Tags
Green Green List (high evidence)
ARHGEF9
8 reviews
6 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
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert
Phenotypes
  • Developmental and epileptic encephalopathy 8, OMIM:300607
Tags
Green Green List (high evidence)
ARID1B
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Coffin-Siris syndrome 1, 135900
Tags
Green Green List (high evidence)
ARSA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Metachromatic leukodystrophy
Tags
Green Green List (high evidence)
ARSB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 6
  • Mucopolysaccharidosis, Type VI
  • Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200
  • Mucopolysaccharidosis Type VI
  • MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease)
Tags
Green Green List (high evidence)
ARSE
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Chondrodysplasia punctata, X-linked recessive 302950
Tags
  • new-gene-name
Green Green List (high evidence)
ARV1
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 38 617020
Tags
Green Green List (high evidence)
ARX
7 reviews
5 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 1 308350
  • Hydranencephaly with abnormal genitalia 300215
  • Lissencephaly, X-linked 2 300215
  • Mental retardation, X-linked 29 and others 300419
  • Partington syndrome 309510
  • Proud syndrome 300004
Tags
Green Green List (high evidence)
ASAH1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability
Tags
Green Green List (high evidence)
ASAH1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
Phenotypes
  • Spinal muscular atrophy with progressive myoclonic epilepsy, 159950
  • SMA with myoclonic epilepsy
Tags
Green Green List (high evidence)
ASH1L
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 52, OMIM:617796
Tags
Green Green List (high evidence)
ASL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Argininosuccinic aciduria, OMIM:207900
  • argininosuccinic aciduria, MONDO:0008815
Tags
Green Green List (high evidence)
ASL
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • ClinGen
  • Literature
Phenotypes
  • Argininosuccinic aciduria, OMIM:207900
  • argininosuccinic aciduria, MONDO:0008815
  • seizure, HP:0001250
Tags
Green Green List (high evidence)
ASNS
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Asparagine synthetase deficiency OMIM:615574
Tags
Green Green List (high evidence)
ASPA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Canavan disease
Tags
Green Green List (high evidence)
ASPA
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Canavan disease 271900
Tags
Green Green List (high evidence)
ASS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Citrullinaemia type1 (Urea cycle disorders and inherited hyperammonaemias)
  • Citrullinemia
Tags
Green Green List (high evidence)
ASXL3
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Bainbridge-Ropers syndrome, OMIM:615115
Tags
Green Green List (high evidence)
ATAD3A
5 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
Phenotypes
  • Harel-Yoon syndrome, OMIM:617183
  • Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810
  • Lactic acidosis
  • Methylglutaconic aciduria
Tags
Green Green List (high evidence)
ATIC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Intellectual disability
  • AICAR transformylase deficiency (Disorders of purine metabolism)
Tags
Green Green List (high evidence)
ATN1
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review
  • Expert Review Green
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
Tags
Green Green List (high evidence)
ATN1_CAG
STR
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
Phenotypes
  • Dentatorubral-pallidoluysian atrophy, OMIM:125370
Tags
  • STR
Green Green List (high evidence)
ATP13A2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Kufor-Rakeb syndrome
Tags
Green Green List (high evidence)
ATP1A1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Hypomagnesemia
  • Seizures
  • Intellectual disability
Tags
Green Green List (high evidence)
ATP1A2
9 reviews
2 green 4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert
Phenotypes
  • Alternating hemiplegia of childhood 1, 104290
  • Migraine, familial basilar, 602481
  • Migraine, familial hemiplegic, 2, 602481
  • benign familial infantile convulsions
  • epilepsy and migraine
  • occipitotemporal epilepsy
  • infantile epileptic syndrome
Tags
Green Green List (high evidence)
ATP1A3
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • UKGTN
  • Expert
  • Expert Review Green
Phenotypes
  • Alternating hemiplegia of childhood 2
  • Catastrophic epilepsy, unusual apnea spells, and postnatal microcephaly
  • Dystonia-12
  • CAPOS Syndrome (recurrent mutation)
Tags
Green Green List (high evidence)
ATP5A1
6 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228
  • Combined oxidative phosphorylation deficiency 22, OMIM: 616045
Tags
  • new-gene-name
Green Green List (high evidence)
ATP5D
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, 618120
Tags
  • new-gene-name
Green Green List (high evidence)
ATP5E
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053
  • mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547
Tags
  • new-gene-name
Green Green List (high evidence)
ATP5G3
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681
Tags
  • new-gene-name
Green Green List (high evidence)
ATP5O
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
Tags
  • new-gene-name
Green Green List (high evidence)
ATP5O
6 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
Tags
  • new-gene-name
Green Green List (high evidence)
ATP6AP1
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 47
Tags
Green Green List (high evidence)
ATP6V0A1
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • ATP6V0A1-related developmental disorder (monoallelic)
Tags
  • watchlist_moi
Green Green List (high evidence)
ATP6V0A2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
  • Cutis laxa, autosomal recessive, type IIA 21920
  • Wrinkly skin syndrome 278250
Tags
Green Green List (high evidence)
ATP6V0A2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Cutis laxa, autosomal recessive, type IIA 219200
  • Wrinkly skin syndrome 278250
Tags
Green Green List (high evidence)
ATP6V0C
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Tags
Green Green List (high evidence)
ATP6V1A
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Epileptic encephalopathy, infantile or early childhood, 3 618012
  • Cutis laxa, autosomal recessive, type IID 617403
Tags
Green Green List (high evidence)
ATP7A
3 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Menkes disease
Tags
Green Green List (high evidence)
ATP7A
4 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Menkes disease 309400
Tags
Green Green List (high evidence)
ATP7B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Wilson disease
Tags
Green Green List (high evidence)
ATP8B1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cholestasis, progressive familial intrahepatic 1 211600
  • Cholestasis, benign recurrent intrahepatic 243300 AR
  • Cholestasis, intrahepatic, of pregnancy, 1 147480 AD
  • Byler disease (Disorders of bile acid metabolism and transport)
Tags
Green Green List (high evidence)
ATPAF2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
  • Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Mitochondrial Diseases
  • Isolated complex V deficiency
  • Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
Tags
Green Green List (high evidence)
ATRX
8 reviews
6 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
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • UKGTN
  • Expert
Phenotypes
  • Alpha-thalassemia/mental retardation syndrome, 301040
  • Mental retardation-hypotonic facies syndrome, X-linked, 309580
Tags
Green Green List (high evidence)
AUH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria, type I
  • Methylglutaconic aciduria type I (Organic acidurias)
Tags
Green Green List (high evidence)
B3GALNT2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11
Tags
Green Green List (high evidence)
B3GALT6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, progeroid type, 2
Tags
Green Green List (high evidence)
B3GAT3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
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
Green Green List (high evidence)
B3GLCT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Peters-plus syndrome 261540
  • O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
B4GALNT1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 26, autosomal recessive, OMIM:609195
  • Hereditary spastic paraplegia 26, MONDO:0012213
Tags
Green Green List (high evidence)
B4GALT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IId, OMIM:607091
Tags
Green Green List (high evidence)
B4GALT7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome with short stature and limb anomalies 130070
  • B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
  • B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • Beta-1,4-galactosyltransferase 7 deficiency (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
BAAT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hypercholanemia, familial
Tags
Green Green List (high evidence)
BAG3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cardiomyopathy, dilated, 1HH, 613881
  • Myopathy, myofibrillar, 6, 612954
Tags
Green Green List (high evidence)
BAG3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • South West GLH
  • London South GLH
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, dilated, 1HH
Tags
Green Green List (high evidence)
BAP1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Kury-Isidor syndrome, OMIM:619762
Tags
Green Green List (high evidence)
BCAT2
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria)
Tags
  • treatable
Green Green List (high evidence)
BCKDHA
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Maple syrup urine disease, type Ia 248600
Tags
Green Green List (high evidence)
BCKDHA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Maple syrup urine disease, type Ia
  • BCKD E1 alpha subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria)
Tags
Green Green List (high evidence)
BCKDHB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Maple syrup urine disease, type Ib
  • BCKD E1 beta subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria)
Tags
Green Green List (high evidence)
BCKDHB
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Maple syrup urine disease, type Ib 248600
Tags
Green Green List (high evidence)
BCKDK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Branched-chain ketoacid dehydrogenase kinase deficiency
Tags
Green Green List (high evidence)
BCS1L
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Mitochondrial Diseases
  • Isolated complex III deficiency
  • Mitochondrial Respiratory Chain Complex III Deficiency
  • Mitochondrial complex III deficiency, nuclear type 1, 124000
  • Leigh syndrome, 256000
  • Bjornstad syndrome, 262000
  • GRACILE syndrome, 603358
Tags
Green Green List (high evidence)
BCS1L
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 1 124000
  • Leigh syndrome 256000
  • GRACILE syndrome 603358
Tags
Green Green List (high evidence)
BOLA3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366)
  • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Multiple mitochondrial dysfunctions syndrome 2, 614299
  • Multiple Mitochondrial Dysfunctions Syndrome
  • Disorders of iron homeostasis
Tags
Green Green List (high evidence)
BOLA3
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 614299
Tags
Green Green List (high evidence)
BRAF
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiofaciocutaneous syndrome 115150
  • Noonan syndrome 7 613706
  • LEOPARD syndrome 3 613707
Tags
Green Green List (high evidence)
BRAT1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review
Phenotypes
  • Rigidity and multifocal seizure syndrome, lethal neonatal 614498
Tags
Green Green List (high evidence)
BSCL2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924
Tags
Green Green List (high evidence)
BTD
8 reviews
2 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert
Phenotypes
  • Biotinidase deficiency 253260
Tags
Green Green List (high evidence)
BTD
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Biotinidase deficiency (Disorders of biotin metabolism)
  • Biotinidase deficiency
  • lactic acidosis with seizures and eczema,immune deficiency
Tags
Green Green List (high evidence)
C12orf57
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Temtamy syndrome 218340
Tags
Green Green List (high evidence)
C12orf65
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 7, OMIM:613559
  • Spastic paraplegia 55, autosomal recessive, OMIM:615035
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
  • new-gene-name
Green Green List (high evidence)
C19orf12
7 reviews
1 green 3 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ?Spastic paraplegia 43, autosomal recessive, OMIM:615043
  • Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Tags
Green Green List (high evidence)
C19orf70
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 37, 618329
Tags
  • new-gene-name
Green Green List (high evidence)
C1QBP
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Literature
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 33 617713
Tags
Green Green List (high evidence)
C2orf69
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 53, OMIM:619423
Tags
  • gene-checked
Green Green List (high evidence)
CA5A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hyperammonemia due to carbonic anhydrase VA deficiency
  • Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias)
Tags
Green Green List (high evidence)
CACNA1A
10 reviews
3 green 4 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert
Phenotypes
  • Developmental and epileptic encephalopathy 42, OMIM:617106
  • developmental and epileptic encephalopathy, 42, MONDO:0014917
  • Episodic ataxia, type 2, OMIM:108500
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Tags
Green Green List (high evidence)
CACNA1B
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497
  • Global developmental delay
  • Developmental regression
  • Seizures
  • Intellectual disability
  • Abnormality of movement
  • Progressive Epilepsy-Dyskinesia
Tags
Green Green List (high evidence)
CACNA1C
9 reviews
4 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • West Midlands, Oxford and Wessex GLH
  • South West GLH
  • London South GLH
  • North West GLH
  • Brugada syndrome (Version 1.7)
  • UKGTN
  • Expert Review Green
  • Long QT syndrome (Version 1.5)
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Timothy syndrome, OMIM:601005
  • Timothy syndrome, MONDO:0010979
  • Long QT syndrome 8, OMIM:618447
  • long qt syndrome 8, MONDO:0032756
  • Brugada syndrome 3, OMIM:611875
  • Brugada syndrome 3, MONDO:0012742
  • Short QT
  • CACNA1C-related disorder
Tags
Green Green List (high evidence)
CACNA1C
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Timothy syndrome, OMIM:601005
  • Timothy syndrome, MONDO:0010979
  • Long QT syndrome 8, OMIM:618447
  • long qt syndrome 8, MONDO:0032756
  • Brugada syndrome 3, OMIM:611875
  • Brugada syndrome 3, MONDO:0012742
  • CACNA1C-related disorder
Tags
Green Green List (high evidence)
CACNA1C
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Timothy syndrome, OMIM:601005
  • Timothy syndrome, MONDO:0010979
  • Long QT syndrome 8, OMIM:618447
  • long qt syndrome 8, MONDO:0032756
  • Brugada syndrome 3, OMIM:611875
  • Brugada syndrome 3, MONDO:0012742
  • CACNA1C-related disorder
Tags
Green Green List (high evidence)
CACNA1C
5 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
  • Timothy syndrome, OMIM:601005
  • Timothy syndrome, MONDO:0010979
  • Long QT syndrome 8, OMIM:618447
  • long qt syndrome 8, MONDO:0032756
  • Brugada syndrome 3, OMIM:611875
  • Brugada syndrome 3, MONDO:0012742
  • CACNA1C-related disorder
Tags
Green Green List (high evidence)
CACNA1C
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Timothy syndrome OMIM:601005
  • CACNA1C-related disorder
Tags
Green Green List (high evidence)
CACNA1D
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Literature
  • Literature
Phenotypes
  • Primary aldosteronism, seizures, and neurologic abnormalities 615474 AD
  • Sinoatrial node dysfunction and deafness 614896 AR
Tags
Green Green List (high evidence)
CACNA1E
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Literature
  • Expert Review
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Dystonia
  • Congenital contracture
  • Macrocephaly
Tags
Green Green List (high evidence)
CACNA1G
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Spinocerebellar ataxia 42 616795
Tags
  • missense
Green Green List (high evidence)
CACNA1I
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with speech impairment and with or without seizures, OMIM:620114
Tags
Green Green List (high evidence)
CACNA2D2
7 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Absence epilepsy
  • Cerebellar atrophy with seizures and variable developmental delay, 618501
Tags
Green Green List (high evidence)
CAD
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 50, OMIM:616457
Tags
Green Green List (high evidence)
CALM1
6 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
  • London South GLH
  • Oxford Medical Genetics Laboratory
Phenotypes
  • Long QT syndrome 14
  • Ventricular tachycardia, catecholaminergic polymorphic, 4
Tags
Green Green List (high evidence)
CALM1
6 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 4, OMIM:614916
Tags
Green Green List (high evidence)
CALM2
6 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
  • Oxford Medical Genetics Laboratory
Phenotypes
  • Long QT syndrome 15, OMIM:616249
  • long QT syndrome 15, MONDO:0014550
Tags
Green Green List (high evidence)
CALM2
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • Expert Review Green
  • Oxford Medical Genetics Laboratory
Phenotypes
  • Long QT syndrome 15, OMIM:616249
  • long QT syndrome 15, MONDO:0014550
Tags
Green Green List (high evidence)
CALM3
5 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • South West GLH
  • London South GLH
  • Oxford Medical Genetics Laboratory
Phenotypes
  • ?Ventricular tachycardia, catecholaminergic polymorphic 6, OMIM:618782
Tags
Green Green List (high evidence)
CALM3
6 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • South West GLH
  • Oxford Medical Genetics Laboratory
Phenotypes
  • ?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782
  • Long QT syndrome 16,618782
Tags
Green Green List (high evidence)
CAP2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Cardiomyopathy, dilated, 2I, OMIM:620462
Tags
  • gene-checked
Green Green List (high evidence)
CAPRIN1
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636
Tags
Green Green List (high evidence)
CARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 27, 616672
Tags
Green Green List (high evidence)
CARS2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • No OMIM phenotype
  • Combined oxidative phosphorylation deficiency 27 616672
Tags
Green Green List (high evidence)
CASK
8 reviews
2 green 4 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert
Phenotypes
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749
  • Mental retardation, with or without nystagmus 300422
Tags
Green Green List (high evidence)
CASQ2
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 2, OMIM:611938
Tags
Green Green List (high evidence)
CAT
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Acatalasaemia (Other peroxisomal disorders)
  • Acatalasemia, 614097
Tags
Green Green List (high evidence)
CBS
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Homocystinuria, B6-responsive and nonresponsive types
Tags
Green Green List (high evidence)
CC2D2A
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • COACH syndrome 216360
  • Joubert syndrome 9 612285
Tags
Green Green List (high evidence)
CCDC115
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IIo 616828
Tags
Green Green List (high evidence)
CDH2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
CDH2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Tags
Green Green List (high evidence)
CDK19
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile 87 618916
Tags
Green Green List (high evidence)
CDKL5
7 reviews
5 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert
  • Expert Review Green
Phenotypes
  • Angelman syndrome-like
  • Epileptic encephalopathy, early infantile, 2
Tags
Green Green List (high evidence)
CELF2
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 97, OMIM:619561
Tags
Green Green List (high evidence)
CEP85L
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lissencephaly 10, OMIM:618873
  • Lissencephaly 10, MONDO:0030031
Tags
  • gene-checked
Green Green List (high evidence)
CERS1
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Epilepsy, progressive myoclonic, 8 OMIM:616230
  • progressive myoclonic epilepsy type 8 MONDO:0014545
Tags
Green Green List (high evidence)
CHCHD10
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
  • ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
  • Spinal muscular atrophy, Jokela type
Tags
Green Green List (high evidence)
CHD2
8 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, childhood-onset 615369
Tags
Green Green List (high evidence)
CHD4
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Sifrim-Hitz-Weiss syndrome, OMIM:617159
Tags
Green Green List (high evidence)
CHD5
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM:610771
  • Intellectual disability, MONDO:0001071
  • Epilepsy, MONDO:0005027
Tags
Green Green List (high evidence)
CHKA
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Abnormal muscle tone
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Microcephaly
  • Abnormality of movement
  • Abnormality of nervous system morphology
  • Short stature
Tags
Green Green List (high evidence)
CHKB
6 reviews
2 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Choline kinase deficiency (Disorders of complex lipid synthesis)
  • Muscular dystrophy, congenital, megaconial type, 602541
Tags
Green Green List (high evidence)
CHRNA2
9 reviews
5 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert
Phenotypes
  • Epilepsy, nocturnal frontal lobe, type 4
Tags
Green Green List (high evidence)
CHRNA4
9 reviews
5 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • UKGTN
  • Expert
Phenotypes
  • Epilepsy, nocturnal frontal lobe, 1 600513
Tags
Green Green List (high evidence)
CHRNB2
10 reviews
5 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • UKGTN
  • Expert
Phenotypes
  • Epilepsy, nocturnal frontal lobe, 3 605375
Tags
Green Green List (high evidence)
CHST14
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, musculocontractural type 1 601776
  • CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
CHST3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Spondyloepiphyseal dysplasia with congenital joint dislocations 143095
  • CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
CHST6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • Macular corneal dystrophy 217800
Tags
Green Green List (high evidence)
CHSY1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Temtamy preaxial brachydactyly syndrome 605282
  • CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
CIC
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Mental retardation, autosomal dominant 45 617600
Tags
Green Green List (high evidence)
CISD2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
  • NHS GMS
Phenotypes
  • Wolfram syndrome 2 604928
Tags
Green Green List (high evidence)
CLCN3
2 reviews
2 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512
  • Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517
Tags
Green Green List (high evidence)
CLCN4
4 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
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Raynaud-Claes syndrome, OMIM:300114
Tags
Green Green List (high evidence)
CLDN16
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hypomagnesemia 3, renal 248250
Tags
Green Green List (high evidence)
CLDN19
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hypomagnesemia 5, renal, with ocular involvement 248190
Tags
Green Green List (high evidence)
CLDN5
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • epilepsy, MONDO:0005027
Tags
  • gene-checked
Green Green List (high evidence)
CLN3
8 reviews
2 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 3 204200
Tags
Green Green List (high evidence)
CLN3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 3, 204200
Tags
Green Green List (high evidence)
CLN5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 5 OMIM:256731
  • neuronal ceroid lipofuscinosis 5 MONDO:0009745
Tags
Green Green List (high evidence)
CLN6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6, 601780
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Tags
Green Green List (high evidence)
CLN8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 8
Tags
Green Green List (high evidence)
CLN8
7 reviews
1 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Expert Review Green
  • Expert
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 8 600143
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003
Tags
Green Green List (high evidence)
CLPB
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271
  • 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM:619835
  • Neutropenia, severe congenital, 9, autosomal dominant, OMIM:619813
Tags
Green Green List (high evidence)
CLPB
5 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271
  • 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835
  • Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813
Tags
Green Green List (high evidence)
CLPP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Perrault syndrome 3, 614129
Tags
Green Green List (high evidence)
CLTC
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Other
  • Expert Review Green
  • Expert Review Green
  • Other
Phenotypes
  • Mental retardation, autosomal dominant 56, OMIM:617854
Tags
Green Green List (high evidence)
CNKSR2
4 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
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review
Phenotypes
  • Intellectual developmental disorder, X-linked, syndromic, Houge type, OMIM:301008
  • intellectual disability, X-linked, syndromic, Houge type, MONDO:0030909
Tags
Green Green List (high evidence)
CNNM2
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hypomagnesemia, seizures, and mental retardation, OMIM:616418
  • Hypomagnesemia, seizures, and mental retardation, MONDO:0014631
Tags
Green Green List (high evidence)
CNNM2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism)
  • Hypomagnesemia 6, renal 613882
  • Hypomagnesemia, seizures, and mental retardation 616418
Tags
Green Green List (high evidence)
CNOT9
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • epilepsy, MONDO:0005027
Tags
  • gene-checked
Green Green List (high evidence)
CNPY3
5 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 60 617929
Tags
Green Green List (high evidence)
CNTNAP2
8 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • UKGTN
  • Expert
  • Expert Review Green
Phenotypes
  • Cortical dysplasia-focal epilepsy syndrome
  • Pitt-Hopkins like syndrome 1
Tags
Green Green List (high evidence)
COA5
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
  • NHS GMS
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
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501
Tags
Green Green List (high evidence)
COA6
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • MetBioNet
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501
Tags
Green Green List (high evidence)
COA7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387
  • spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
Tags
Green Green List (high evidence)
COG1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
  • Congenital disorder of glycosylation, type IIg 611209
Tags
Green Green List (high evidence)
COG4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
  • Congenital disorder of glycosylation, type IIj 613489
Tags
Green Green List (high evidence)
COG5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IIi 613612
  • Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Tags
Green Green List (high evidence)
COG6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
  • Shaheen syndrome 615328
  • Congenital disorder of glycosylation, type IIl 614576
Tags
Green Green List (high evidence)
COG7
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIe, 608779
Tags
Green Green List (high evidence)
COG7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
  • Congenital disorder of glycosylation, type IIe 608779
Tags
Green Green List (high evidence)
COG8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IIh 611182
  • Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency)
Tags
Green Green List (high evidence)
COL18A1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Knobloch syndrome, type 1, OMIM:267750
Tags
Green Green List (high evidence)
COL4A1
8 reviews
2 green 4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert
Phenotypes
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773
  • Brain small vessel disease with or without ocular anomalies 607595
  • Porencephaly 1 175780
  • Schizencephaly 269160
Tags
Green Green List (high evidence)
COL4A2
8 reviews
2 green 4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert
Phenotypes
  • Porencephaly 2 614483
Tags
Green Green List (high evidence)
COQ2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1, OMIM:607426
Tags
Green Green List (high evidence)
COQ2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1, OMIM:607426
Tags
Green Green List (high evidence)
COQ4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Tags
Green Green List (high evidence)
COQ4
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Coenzyme Q10 deficiency, primary, 7 616276
Tags
Green Green List (high evidence)
COQ6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 6, 614650
  • Steroid-resistant nephrotic syndrome
  • Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of ubiquinone metabolism and biosynthesis
Tags
Green Green List (high evidence)
COQ7
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Coenzyme Q10 deficiency, primary, 8 616733
Tags
Green Green List (high evidence)
COQ8A
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency
  • Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 4, 612016
Tags
Green Green List (high evidence)
COQ8B
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 9
Tags
Green Green List (high evidence)
COQ9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 5, 614654
  • Coenzyme Q10 deficiency
  • Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of ubiquinone metabolism and biosynthesis
Tags
Green Green List (high evidence)
COQ9
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Coenzyme Q10 deficiency, primary, 5, 614654
Tags
Green Green List (high evidence)
COX10
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
  • Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency
Tags
Green Green List (high evidence)
COX10
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • MetBioNet
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
Tags
Green Green List (high evidence)
COX14
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
  • Isolated complex IV deficiency
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Tags
Green Green List (high evidence)
COX15
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • MetBioNet
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
Tags
Green Green List (high evidence)
COX15
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
Tags
Green Green List (high evidence)
COX20
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
  • Isolated complex IV deficiency
  • Complex IV Mitochondrial respiratory chain disorders caused by nuclear variants only
  • OXPHOS assembly factors
Tags
Green Green List (high evidence)
COX5A
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064
  • Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Tags
Green Green List (high evidence)
COX6A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Tags
Green Green List (high evidence)
COX6B1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051
Tags
Green Green List (high evidence)
COX7B
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
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Isolated complex IV deficiency
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Linear skin defects with multiple congenital anomalies
  • Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887
  • MICROPHTHALMIA WITH LINEAR SKIN LESIONS
Tags
Green Green List (high evidence)
CP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia, 604290
  • Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Tags
Green Green List (high evidence)
CPLX1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Developmental and epileptic encephalopathy 63, OMIM:617976
  • developmental and epileptic encephalopathy, 63, MONDO:0033372
Tags
Green Green List (high evidence)
CPOX
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Harderoporphyria 121300
  • Coproporphyria 121300
  • Hereditary coproporphyria (Acute neuropathic porphyrias)
Tags
Green Green List (high evidence)
CPS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Carbamoylphosphate synthetase I deficiency
  • Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias)
Tags
Green Green List (high evidence)
CPT1A
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Carnitine palmitoyltransferase I (CPTI) deficiency (Disorders of carnitine transport and the carnitine cycle)
  • CPT deficiency, hepatic, type IA
Tags
Green Green List (high evidence)
CPT2
4 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • CPT II deficiency, infantile, OMIM:600649
  • CPT II deficiency, lethal neonatal, OMIM:608836
  • CPT II deficiency, myopathic, stress-induced, OMIM:255110
  • Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle)
Tags
Green Green List (high evidence)
CPT2
3 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • MetBioNet
  • Expert Review Green
  • MetBioNet
  • South West GLH
  • Expert Review Green
Phenotypes
  • CPT II deficiency, infantile, OMIM:600649
  • CPT II deficiency, lethal neonatal, OMIM:608836
  • CPT II deficiency, myopathic, stress-induced, OMIM:255110
Tags
Green Green List (high evidence)
CREBBP
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Rubinstein-Taybi syndrome 1 180849
Tags
Green Green List (high evidence)
CRELD1
4 reviews
3 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
Phenotypes
  • Atrioventricular septal defect, partial, with heterotaxy syndrome, OMIM:606217
  • {Atrioventricular septal defect, susceptibility to, 2}, OMIM:606217
  • atrioventricular septal defect, susceptibility to, 2, MONDO:0011650
Tags
Green Green List (high evidence)
CRLS1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 57, OMIM:620167
Tags
Green Green List (high evidence)
CSGALNACT1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation
  • Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870
  • skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029
Tags
Green Green List (high evidence)
CSNK2B
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Poirier-Bienvenu neurodevelopmental syndrome, OMIM:618732
  • Poirier-Bienvenu neurodevelopmental syndrome, MONDO:0032889
Tags
Green Green List (high evidence)
CSRP3
8 reviews
5 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, hypertrophic, 12 (612124)
  • ?Cardiomyopathy, dilated, 1M (607482)
  • Cardiomyopathy, familial hypertrophic, 12
Tags
Green Green List (high evidence)
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)
CSTB
9 reviews
3 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
Tags
  • nucleotide-repeat-expansion
Green Green List (high evidence)
CSTB_CCCCGCCCCGCG
STR
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
Tags
  • STR
Green Green List (high evidence)
CTH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cystathioninuria, 219500
Tags
Green Green List (high evidence)
CTNNA2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 9, OMIM:618174
Tags
Green Green List (high evidence)
CTNS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cystinosis, atypical nephropathic
Tags
Green Green List (high evidence)
CTSA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Galactosialidosis
Tags
Green Green List (high evidence)
CTSC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Haim-Munk syndrome 245010
  • Papillon-Lefevre syndrome 245000
  • Periodontitis 1, juvenile 170650
Tags
Green Green List (high evidence)
CTSD
7 reviews
2 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 10, 610127
Tags
Green Green List (high evidence)
CTSD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 10, 610127
Tags
Green Green List (high evidence)
CTSF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362
  • neuronal ceroid lipofuscinosis 13 MONDO:0014147
Tags
Green Green List (high evidence)
CTSK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Pycnodysostosis
Tags
Green Green List (high evidence)
CUBN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism)
  • Megaloblastic anemia-1, Finnish type
  • Proteinuric renal disease
  • Unexplained kidney failure in young people
Tags
Green Green List (high evidence)
CUL3
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with or without autism or seizures, OMIM:619239
Tags
Green Green List (high evidence)
CUL4B
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • Literature
  • NHS GMS
Phenotypes
  • Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354
  • seizures
Tags
Green Green List (high evidence)
CUX2
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 67, OMIM:618141
  • Infantile onset myoclonic epileptic encephalopathy
Tags
Green Green List (high evidence)
CYC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Isolated complex III deficiency
  • Mitochondrial complex III deficiency, nuclear type 6, 615453
Tags
Green Green List (high evidence)
CYFIP2
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 65, 618008
Tags
Green Green List (high evidence)
CYP27A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cerebrotendinous xanthomatosis, 213700
Tags
Green Green List (high evidence)
CYP7B1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Bile acid synthesis defect, congenital, 3 613812
  • Spastic paraplegia 5A, autosomal recessive 270800
Tags
  • treatable
Green Green List (high evidence)
D2HGDH
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • D-2-hydroxyglutaric aciduria
Tags
Green Green List (high evidence)
D2HGDH
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • D-2-hydroxyglutaric aciduria, 600721
  • generalized tonic-clonic seizures
  • absence seizures
  • tonic seizures
  • tonic-clonic seizures
  • myoclonic seizures
Tags
Green Green List (high evidence)
DARS
7 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Tags
  • new-gene-name
Green Green List (high evidence)
DARS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Green Green List (high evidence)
DBH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Dopamine beta-hydroxylase deficiency
Tags
Green Green List (high evidence)
DBT
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Maple syrup urine disease, type II, 248600
  • seizures
  • convulsions
Tags
Green Green List (high evidence)
DBT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Dihydrolipoamide branched chain transacylase deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria)
  • Maple syrup urine disease, type II
Tags
Green Green List (high evidence)
DCX
4 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
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lissencephaly, X-linked, OMIM:300067
  • Subcortical laminal heterotopia, X-linked, OMIM:300067
Tags
Green Green List (high evidence)
DCXR
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • [Pentosuria] 260800
Tags
Green Green List (high evidence)
DDC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
  • Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
Tags
Green Green List (high evidence)
DDC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
  • Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
Tags
Green Green List (high evidence)
DDX3X
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
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958
Tags
Green Green List (high evidence)
DEAF1
7 reviews
3 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Literature
Phenotypes
  • ?Dyskinesia, seizures, and intellectual developmental disorder, 617171
Tags
Green Green List (high evidence)
DEGS1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Leukodystrophy hypomyelinating 18, 618404
  • seizures
Tags
Green Green List (high evidence)
DENND5A
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 49, 617281
Tags
Green Green List (high evidence)
DEPDC5
10 reviews
4 green 4 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert
Phenotypes
  • Epilepsy, familial focal, with variable foci 1, OMIM:604364
Tags
Green Green List (high evidence)
DES
8 reviews
3 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • Expert Review Green
  • UKGTN
  • Expert list
Phenotypes
  • Cardiomyopathy, dilated, 1I (604765)
  • Myopathy, myofibrillar, 1 (601419)
  • Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
Tags
Green Green List (high evidence)
DES
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, dilated, 1I,
Tags
Green Green List (high evidence)
DES
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
  • Expert list
Phenotypes
  • Desminopathy-associated AV conduction block
  • atrioventricular block (disease), MONDO:0000465
Tags
Green Green List (high evidence)
DES
8 reviews
4 green 2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
  • Myopathy, myofibrillar, 1 (601419)
  • Cardiomyopathy, dilated, 1I, (604765)
  • Cardiomyopathy, dilated, 1I,
Tags
Green Green List (high evidence)
DGUOK
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Deoxyguanosine kinase deficiency (Disorders of purine metabolism)
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
  • Mitochondrial DNA Depletion Syndrome
  • Disorders of mitochondrial DNA maintenance and integrity
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Green Green List (high evidence)
DHCR24
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Desmosterolosis 602398
Tags
Green Green List (high evidence)
DHCR7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Intellectual disability
  • IUGR and IGF abnormalities
  • Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis)
  • Disorders of sex development
  • Cataracts
Tags
Green Green List (high evidence)
DHDDS
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental delay and seizures with or without movement abnormalities, OMIM:617836
Tags
Green Green List (high evidence)
DHFR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Dihydrofolate reductase deficiency (Disorders of folate metabolism and transport)
  • Megaloblastic anemia due to dihydrofolate reductase deficiency
Tags
Green Green List (high evidence)
DHODH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Miller syndrome 263750
Tags
Green Green List (high evidence)
DHPS
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review
  • Expert Review Green
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Abnormality of head or neck
  • Seizures
  • EEG abnormality
  • Behavioral abnormality
  • Abnormal muscle tone
  • Intellectual disability
  • Global developmental delay
Tags
Green Green List (high evidence)
DHTKD1
7 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism)
  • 2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism)
  • 2-aminoadipic and 2-oxoadipic aciduria, 204750
Tags
Green Green List (high evidence)
DHX30
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neurodevelopmental disorder with severe motor impairment and absent language 617804
Tags
Green Green List (high evidence)
DIAPH1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Other
  • Expert Review Green
Phenotypes
  • Seizures, cortical blindness, microcephaly syndrome, MIM:616632
Tags
Green Green List (high evidence)
DLAT
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Dihydrolipoyl transacetylase deficiency (Disorders of pyruvate metabolism)
  • Pyruvate dehydrogenase E2 deficiency, 245348
Tags
Green Green List (high evidence)
DLD
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism)
  • Leigh syndrome
  • Dihydrolipoamide dehydrogenase deficiency, 246900
Tags
Green Green List (high evidence)
DLL1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, OMIM:618709
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
  • Literature
  • NHS GMS
Phenotypes
  • Becker muscular dystrophy, 300376
  • Cardiomyopathy, dilated, 3B, 302045
  • Duchenne muscular dystrophy, 310200
Tags
  • Skewed X-inactivation
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
  • NHS GMS
  • South West GLH
  • Expert Review Green
Phenotypes
  • Duchenne muscular dystrophy, 310200
  • Dilated Cardiomyopathy, X-Linked
  • Cardiomyopathy, dilated, 3B
  • Becker muscular dystrophy, 300376
Tags
  • Skewed X-inactivation
Green Green List (high evidence)
DMPK_CTG
STR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Myotonic dystrophy 1, OMIM:160900
Tags
  • STR
Green Green List (high evidence)
DMXL2
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 81, MIM 618663
  • Ohtahara syndrome
Tags
Green Green List (high evidence)
DNA2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6
  • 615156
  • Disorders of mitochondrial DNA maintenance and integrity
Tags
Green Green List (high evidence)
DNAJC12
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperphenylalaninemia, mild, non-BH4-deficient, 617384
Tags
Green Green List (high evidence)
DNAJC19
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria, type V, 610198
  • Disorders of the mitochondrial import system
  • 3-methylglutaconic aciduria, type V
Tags
Green Green List (high evidence)
DNAJC19
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • London South GLH
  • Expert Review Green
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)
DNAJC5
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350
Tags
Green Green List (high evidence)
DNAJC6
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Parkinson disease 19b, early-onset, OMIM:615528
  • Parkinson disease 19a juvenile-onset, OMIM:615528
  • juvenile onset Parkinson disease 19A, MONDO:0014231
Tags
Green Green List (high evidence)
DNM1
8 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review
Phenotypes
  • Developmental and epileptic encephalopathy 31, OMIM:616346
Tags
  • watchlist_moi
Green Green List (high evidence)
DNM1L
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388
  • refractory epilepsy
  • refractory focal status epilepticus
Tags
Green Green List (high evidence)
DNM1L
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388
  • Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission
  • Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Green Green List (high evidence)
DNM2
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Centronuclear myopathy 1 160150
  • Charcot-Marie-Tooth disease, axonal type 2M 606482
  • Charcot-Marie-Tooth disease, dominant intermediate B 606482
Tags
Green Green List (high evidence)
DOCK7
7 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
  • EIEE23
Tags
Green Green List (high evidence)
DOLK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Im 610768
  • Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Tags
Green Green List (high evidence)
DOLK
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Green
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)
DOLK
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Im, OMIM:610768
  • DK1-congenital disorder of glycosylation, MONDO:0012556
Tags
Green Green List (high evidence)
DOLK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
DPAGT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 13, with tubular aggregates 614750
  • UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Ij 608093
Tags
Green Green List (high evidence)
DPAGT1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ij, 608093
Tags
Green Green List (high evidence)
DPH5
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070
Tags
Green Green List (high evidence)
DPM1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ie, OMIM:608799
  • GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Tags
Green Green List (high evidence)
DPM1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ie, OMIM:608799
Tags
Green Green List (high evidence)
DPM2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Iu, OMIM:615042
Tags
Green Green List (high evidence)
DPM3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937
Tags
Green Green List (high evidence)
DPYD
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review
  • Expert Review Green
Phenotypes
  • 5-fluorouracil toxicity 274270
  • Dihydropyrimidine dehydrogenase deficiency 274270
Tags
Green Green List (high evidence)
DPYD
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Dihydropyrimidine dehydrogenase deficiency 274270
  • Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism)
Tags
Green Green List (high evidence)
DPYS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Dihydropyrimidinuria, OMIM:222748
  • Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism)
Tags
Green Green List (high evidence)
DROSHA
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Cerebral white matter atrophy
  • Abnormality of the corpus callosum
  • Abnormality of movement
  • Stereotypic behavior
  • Abnormality of head or neck
  • Short foot
Tags
  • gene-checked
  • locus-type-rna-micro
Green Green List (high evidence)
DSC2
7 reviews
6 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476)
  • Arrhythmogenic right ventricular dysplasia 11
  • Arrhythmogenic right ventricular dysplasia 11 (610476)
Tags
Green Green List (high evidence)
DSC2
7 reviews
6 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 11
  • Arrhythmogenic right ventricular dysplasia 11 (610476)
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476)
Tags
Green Green List (high evidence)
DSC2
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Green
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
7 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1BB (612877)
  • Arrhythmogenic right ventricular dysplasia 10
  • Arrhythmogenic right ventricular dysplasia 10 (610193)
Tags
Green Green List (high evidence)
DSG2
7 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • Expert Review Green
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 10
  • Arrhythmogenic right ventricular dysplasia 10 (610193)
  • Cardiomyopathy, dilated, 1BB (612877)
Tags
Green Green List (high evidence)
DSG2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, dilated, 1BB,
  • Arrhythmogenic right ventricular dysplasia 10
Tags
Green Green List (high evidence)
DSP
8 reviews
6 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR)
  • Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD)
  • Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD)
Tags
Green Green List (high evidence)
DSP
8 reviews
6 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD)
  • Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR)
  • Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD)
Tags
Green Green List (high evidence)
DSP
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Green
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD)
  • Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR)
  • Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD)
Tags
Green Green List (high evidence)
DTYMK
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Microcephaly
  • Seizures
  • Global brain atrophy
  • Cardiorespiratory arrest
Tags
Green Green List (high evidence)
DYM
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388
  • Dyggve-Melchior-Clausen disease, 223800
  • Smith-McCort dysplasia, 607326
Tags
Green Green List (high evidence)
DYNC1H1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 13, 614563
  • malformations of cortical development (MCD)
  • Lennox Gastaut
  • Early-onset epilepsy
  • Late-onset epilepsy
  • Focal seizures
Tags
Green Green List (high evidence)
DYRK1A
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7
Tags
Green Green List (high evidence)
EARS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 12, 614924
  • Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)
  • Drug-refractory seizures
  • Epilepsy
Tags
Green Green List (high evidence)
EARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 12, 614924
  • 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)
EBP
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • MEND syndrome 300960 XLR
  • Chondrodysplasia punctata, X-linked dominant 302960 XLD
  • X-linked dominant chondrodysplasia punctata 2 (Disorders of sterol biosynthesis)
Tags
Green Green List (high evidence)
ECHS1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277
Tags
Green Green List (high evidence)
EDEM3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Other
Phenotypes
  • Congenital disorder of glycosylation, type 2V, OMIM:619493
Tags
Green Green List (high evidence)
EEF1A2
9 reviews
1 green 4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epileptic encephalopathy, early infantile, 33 616409
Tags
Green Green List (high evidence)
EFTUD2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Mandibulofacial dysostosis, Guion-Almeida type 610536
Tags
Green Green List (high evidence)
EHBP1L1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • non-immune hydrops fetalis MONDO:0009369
Tags
  • gene-checked
Green Green List (high evidence)
EHMT1
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • UKGTN
  • Expert Review Green
Phenotypes
  • Kleefstra syndrome
Tags
Green Green List (high evidence)
EIF2B1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
Tags
Green Green List (high evidence)
EIF2B2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
Tags
Green Green List (high evidence)
EIF2B3
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
Tags
Green Green List (high evidence)
EIF2B4
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
Tags
Green Green List (high evidence)
EIF2B5
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with vanishing white matter 603896
  • Ovarioleukodystrophy 603896
Tags
Green Green List (high evidence)
EIF2S3
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • MEHMO syndrome, 300148
Tags
Green Green List (high evidence)
EIF3F
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Mental retardation, autosomal recessive 67, OMIM:618295
Tags
Green Green List (high evidence)
EIF4A2
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Neurodevelopmental disorder
Tags
Green Green List (high evidence)
ELAC2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
Phenotypes
  • Combined oxidative phosphorylation deficiency 17, OMIM:615440
Tags
Green Green List (high evidence)
ELAC2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 17, 615440
Tags
Green Green List (high evidence)
EMC10
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264
Tags
Green Green List (high evidence)
EMD
4 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Heart conduction disease, MONDO:0000992
Tags
Green Green List (high evidence)
EMD
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
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)
EML1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Literature
  • Expert Review Green
Phenotypes
  • Band heterotopia, OMIM:600348
Tags
Green Green List (high evidence)
ENO3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ?Glycogen storage disease XIII
Tags
Green Green List (high evidence)
ENTPD1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Spastic paraplegia 64, autosomal recessive, OMIM:615683
Tags
Green Green List (high evidence)
EOGT
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Adams-Oliver syndrome 4 OMIM:615297
  • Adams-Oliver syndrome 4 MONDO:0014124
Tags
Green Green List (high evidence)
EPG5
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Green
Phenotypes
  • Vici syndrome, 242840
  • IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Tags
Green Green List (high evidence)
EPG5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Vici syndrome, 242840
  • IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Tags
Green Green List (high evidence)
EPG5
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review
  • Expert Review Green
Phenotypes
  • Vici syndrome, 242840
  • IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Tags
Green Green List (high evidence)
EPM2A
7 reviews
1 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora) 254780
Tags
Green Green List (high evidence)
EPM2A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora)
Tags
Green Green List (high evidence)
ESAM
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
  • Literature
Phenotypes
  • Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371
Tags
Green Green List (high evidence)
ETFA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Glutaric acidemia IIA, OMIM:231680
  • multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Tags
Green Green List (high evidence)
ETFB
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Glutaric acidemia IIB, OMIM:231680
  • multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Tags
Green Green List (high evidence)
ETFDH
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • GLUTARIC ACIDURIA TYPE 2C
  • Glutaric acidemia IIC
  • Disorders of ubiquinone metabolism and biosynthesis
  • ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation)
Tags
Green Green List (high evidence)
ETHE1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ethylmalonic encephalopathy, 602473
Tags
Green Green List (high evidence)
ETHE1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ethylmalonic encephalopathy, 602473
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Isolated complex IV deficiency
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Ethylmalonic encephalopathy
Tags
Green Green List (high evidence)
EXOSC3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 1B, OMIM:614678
Tags
Green Green List (high evidence)
EXT1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
  • Exostoses, multiple, type 1 133700
Tags
Green Green List (high evidence)
EXT2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Seizures, scoliosis, and macrocephaly syndrome, OMIM:616682
  • seizures-scoliosis-macrocephaly syndrome, MONDO:0014731
Tags
Green Green List (high evidence)
EXT2
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
  • Exostoses, multiple, type 2 133701
  • ?Seizures, scoliosis, and macrocephaly syndrome 616682
Tags
Green Green List (high evidence)
FA2H
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Fatty acid 2-hydroxylase deficiency (Disorders of complex lipid synthesis)
  • Early onset dystonia
  • Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism)
  • Hereditary spastic paraplegia
Tags
Green Green List (high evidence)
FAH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Tyrosinemia, type I
Tags
Green Green List (high evidence)
FAR1
6 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review
Phenotypes
  • Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
  • fatty acyl-CoA reductase 1 deficiency, MONDO:0014510
Tags
Green Green List (high evidence)
FARS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Combined oxidative phosphorylation deficiency 14, 614946
Tags
Green Green List (high evidence)
FARS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 14, 614946
Tags
Green Green List (high evidence)
FASTKD2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 44, OMIM:618855
Tags
Green Green List (high evidence)
FASTKD2
5 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 44, OMIM:618855
Tags
Green Green List (high evidence)
FBP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Glycogen Storage Disease
  • Glycogen Storage Disorders- Liver
  • Fructose-1,6-bisphosphatase deficiency (Disorders of gluconeogenesis)
Tags
Green Green List (high evidence)
FBXL4
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471
  • mitochondrial DNA depletion syndrome 13 MONDO:0014198
Tags
Green Green List (high evidence)
FBXL4
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471
  • mitochondrial DNA depletion syndrome 13 MONDO:0014198
Tags
Green Green List (high evidence)
FBXO11
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089
Tags
Green Green List (high evidence)
FBXO28
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 100, OMIM:619777
  • developmental and epileptic encephalopathy 100, MONDO:0030695
Tags
Green Green List (high evidence)
FDX2
6 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900
  • mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714
Tags
Green Green List (high evidence)
FDXR
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review
  • Expert list
Phenotypes
  • Auditory neuropathy and optic atrophy 617717
Tags
Green Green List (high evidence)
FECH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Protoporphyria, erythropoietic, 1 177000
Tags
Green Green List (high evidence)
FGF12
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 47, 617166
Tags
Green Green List (high evidence)
FGF13
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
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy
  • Intellectual disability
  • Infantile-onset seizures
Tags
Green Green List (high evidence)
FGFR2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
  • Apert syndrome 101200
  • Beare-Stevenson cutis gyrata syndrome 123790
  • Bent bone dysplasia syndrome 614592
  • Craniofacial-skeletal-dermatologic dysplasia 101600
  • Craniosynostosis, nonspecific
  • Crouzon syndrome 123500
  • Gastric cancer, somatic 613659
  • Jackson-Weiss syndrome 123150
  • LADD syndrome 149730
  • Pfeiffer syndrome 101600
  • Saethre-Chotzen syndrome 101400
  • Scaphocephaly and Axenfeld-Rieger anomaly
  • Scaphocephaly, maxillary retrusion, and mental retardation 609579
Tags
Green Green List (high evidence)
FGFR3
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypochondroplasia, OMIM:146000
  • hypochondroplasia, MONDO:0007793
Tags
Green Green List (high evidence)
FH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Fumarase deficiency, OMIM:606812
  • Disorders of the citric acid cycle
Tags
Green Green List (high evidence)
FHL1
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Green
Tags
Green Green List (high evidence)
FHL1
7 reviews
5 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • UKGTN
Phenotypes
  • Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718)
  • Myopathy, X-linked, with postural muscle atrophy (300696)
  • ?Uruguay faciocardiomusculoskeletal syndrome (300280)
  • Scapuloperoneal myopathy, X-linked dominant (300695)
  • Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717)
  • Emery-Dreifuss muscular dystrophy 6, X-linked (300696)
Tags
Green Green List (high evidence)
FHOD3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypertrophic cardiomyopathy, MONDO:0005045
Tags
Green Green List (high evidence)
FHOD3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypertrophic cardiomyopathy
Tags
Green Green List (high evidence)
FKRP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612
  • Fukutin-related protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153
Tags
Green Green List (high evidence)
FKTN
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800
  • seizures
  • Walker-warburg syndrome or muscle-eye-brain disease
  • Fukuyama congenital muscular dystrophy
Tags
Green Green List (high evidence)
FKTN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Green
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)
FKTN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
  • 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)
FLAD1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Multiple acyl-CoA dehydrogenase deficiencies (MADDs)
Tags
Green Green List (high evidence)
FLNA
6 reviews
3 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
  • North West GLH
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Heterotopia, periventricular OMIM:300049
Tags
Green Green List (high evidence)
FLNC
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 26, OMIM:617047
  • Cardiomyopathy, familial restrictive 5, OMIM:617047
  • Hypertrophic cardiomyopathy 26, MONDO:0014883
Tags
Green Green List (high evidence)
FLNC
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 26, OMIM:617047
  • Cardiomyopathy, familial restrictive 5, OMIM:617047
  • Hypertrophic cardiomyopathy 26, MONDO:0014883
  • Myopathy, myofibrillar, 5, OMIM:609524
  • Myopathy, myofibrillar, 5, MONDO:0012289
Tags
Green Green List (high evidence)
FLNC
7 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
  • Wessex and West Midlands GLH
  • Oxford Medical Genetics Laboratory
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 26, OMIM:617047
  • Cardiomyopathy, familial restrictive 5, OMIM:617047
  • Hypertrophic cardiomyopathy 26, MONDO:0014883
Tags
Green Green List (high evidence)
FLNC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 26, OMIM:617047
  • Cardiomyopathy, familial restrictive 5, OMIM:617047
  • Hypertrophic cardiomyopathy 26, MONDO:0014883
  • Myopathy, myofibrillar, 5, OMIM:609524
  • Myopathy, myofibrillar, 5, MONDO:0012289
Tags
Green Green List (high evidence)
FMO3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Trimethylaminuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450)
Tags
Green Green List (high evidence)
FOLR1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Neurodegeneration due to cerebral folate transport deficiency, 613068
  • Cerebral folate deficiency due to FOLR1 deficiency (Disorders of folate metabolism and transport)
Tags
Green Green List (high evidence)
FOLR1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodegeneration due to cerebral folate transport deficiency, 613068
  • seizures
Tags
Green Green List (high evidence)
FOXG1
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert
  • Expert Review Green
  • UKGTN
Phenotypes
  • Rett syndrome, congenital variantRett Syndrome, congenital variant OMIM:613454
  • Rett syndrome, congenital variant MONDO:0013270
Tags
Green Green List (high evidence)
FOXRED1
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 19, OMIM:618241
  • mitochondrial complex 1 deficiency, nuclear type 19, MONDO:0032624
Tags
Green Green List (high evidence)
FOXRED1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial Diseases
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010
  • Isolated complex I deficiency
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
FRMD5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Neurodevelopmental disorder with eye movement abnormalities and ataxia, OMIM:620094
Tags
Green Green List (high evidence)
FRRS1L
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile 37, 616981
Tags
Green Green List (high evidence)
FTCD
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Glutamate formiminotransferase deficiency 229100
Tags
Green Green List (high evidence)
FUCA1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Fucosidosis, 230000
Tags
Green Green List (high evidence)
FUCA1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fucosidosis, 230000
  • seizures
Tags
Green Green List (high evidence)
FUT8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation with defective fucosylation, 618005
Tags
Green Green List (high evidence)
FUT8
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Congenital disorder of glycosylation with defective fucosylation, 618005
  • seizures
Tags
Green Green List (high evidence)
FXN
7 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Friedreich ataxia OMIM:229300
  • Friedreich ataxia with retained reflexes OMIM:229300
  • Friedreich ataxia 1 MONDO:0100340
Tags
  • nucleotide-repeat-expansion
Green Green List (high evidence)
FXN_GAA
STR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Friedreich ataxia OMIM:229300
  • Friedreich ataxia with retained reflexes OMIM:229300
  • Friedreich ataxia 1 MONDO:0100340
Tags
  • STR
Green Green List (high evidence)
G6PC
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Glycogen storage disease Ia, OMIM:232200
Tags
  • new-gene-name
Green Green List (high evidence)
G6PC3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Dursun syndrome
Tags
Green Green List (high evidence)
GAA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Glycogen storage disease II, 232300
Tags
Green Green List (high evidence)
GAA
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • London South GLH
  • MetBioNet
  • Expert Review Green
  • MetBioNet
  • London South GLH
  • South West GLH
  • Expert Review Green
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)
GABBR2
7 reviews
1 green 4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Expert Review
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
  • Rett syndrome
  • Epileptic encephalopathy, early infantile, 59, 617904
Tags
Green Green List (high evidence)
GABRA1
8 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert
  • Expert Review Green
Phenotypes
  • {Epilepsy, childhood absence, susceptibility to, 4} 611136
  • {Epilepsy, juvenile myoclonic, susceptibility to, 5} 611136
Tags
Green Green List (high evidence)
GABRA2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 78, 618557
Tags
  • missense
Green Green List (high evidence)
GABRA5
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 79, 618559
Tags
  • missense
Green Green List (high evidence)
GABRB1
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 45, OMIM:617153
  • developmental and epileptic encephalopathy, 45, MONDO:0014942
Tags
Green Green List (high evidence)
GABRB2
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, infantile or early childhood, 2, 617829
Tags
Green Green List (high evidence)
GABRB3
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert
  • Expert Review Green
  • UKGTN
Phenotypes
  • Epilepsy, childhood absence, susceptibility to, 5
  • EPILEPTIC ENCEPHALOPATHIES
Tags
Green Green List (high evidence)
GABRD
10 reviews
1 green 6 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert
Phenotypes
  • {Epilepsy, idiopathic generalized, 10}, OMIM:613060
  • {Epilepsy, juvenile myoclonic, susceptibility to}, OMIM:613060
  • {Generalized epilepsy with febrile seizures plus, type 5, susceptibility to}, OMIM:613060
Tags
Green Green List (high evidence)
GABRG2
10 reviews
1 green 4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 3 611277
  • Febrile seizures, familial, 8 611277
  • {Epilepsy, childhood absence, susceptibility to, 2} 607681
Tags
Green Green List (high evidence)
GABRG2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Febrile seizures, familial, 8 611277
  • Epilepsy, generalized, with febrile seizures plus, type 3 611277
  • {Epilepsy, childhood absence, susceptibility to, 2} 607681
Tags
Green Green List (high evidence)
GAD1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ?Cerebral palsy, spastic quadriplegic, 1 603513
  • Developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele
Tags
Green Green List (high evidence)
GALC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Krabbe disease, OMIM:245200
Tags
Green Green List (high evidence)
GALC
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Krabbe disease, OMIM:245200
Tags
Green Green List (high evidence)
GALE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Intellectual disability
  • Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism)
  • Galactose epimerase deficiency, OMIM:230350
  • MONDO:0009257
Tags
Green Green List (high evidence)
GALK1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Galactokinase deficiency with cataracts, 230200
Tags
Green Green List (high evidence)
GALM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review
Phenotypes
  • Galactosemia IV, OMIM:618881
  • MONDO:0030105
Tags
Green Green List (high evidence)
GALNS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 4A
  • Mucopolysaccharidosis Type IVA
  • Mucopolysaccharidosis IVA, 253000
  • Mucopolysaccharidosis, Type IV
  • MPS IVA, Morquio A disease (MPS IV, Morquio disease)
Tags
Green Green List (high evidence)
GALNT2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIt OMIM:618885
Tags
Green Green List (high evidence)
GALNT2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIt 618885
Tags
Green Green List (high evidence)
GALNT3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
  • Tumoral calcinosis, hyperphosphatemic, familial 211900
Tags
Green Green List (high evidence)
GALT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Intellectual disability
  • Classical galactosaemia (Disorders of galactose metabolism)
  • Galactosemia
  • Cataracts
Tags
Green Green List (high evidence)
GAMT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Cerebral creatine deficiency syndrome 2 612736
Tags
Green Green List (high evidence)
GAMT
8 reviews
2 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert
Phenotypes
  • Cerebral creatine deficiency syndrome 2, 612736
  • Seizures
  • Deficiency of guanidinoacetate methyltransferase
  • GAMT deficiency
Tags
Green Green List (high evidence)
GARS
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease, type 2D
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Neuropathy, distal hereditary motor, type VA
Tags
  • new-gene-name
Green Green List (high evidence)
GATM
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Arginine:glycine amidinotransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism)
  • arginine:glycine amidinotransferase deficiency
  • Cerebral creatine deficiency syndrome 3, 612718
Tags
Green Green List (high evidence)
GBA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Gaucher disease, perinatal lethal, 608013
  • Gaucher disease, type III, 231000
  • Gaucher disease, type II, 230900
  • Gaucher disease, type I, 230800
  • Gaucher disease, type IIIC, 231005
  • Gaucher disease
  • Gaucher disease (Sphingolipidoses)
Tags
  • new-gene-name
Green Green List (high evidence)
GBA
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Gaucher disease, perinatal lethal, 608013
  • Gaucher disease, type II, 230900
  • Gaucher disease, type III, 231000
  • Gaucher disease, type IIIC, 231005
  • seizures
Tags
  • new-gene-name
Green Green List (high evidence)
GBE1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Glycogen storage disease IV, OMIM:232500
  • Polyglucosan body disease, adult form, OMIM:263570
Tags
Green Green List (high evidence)
GCDH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Glutaricaciduria, type I, 231670
Tags
Green Green List (high evidence)
GCH1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
Tags
Green Green List (high evidence)
GCLC
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Gamma-glutamylcysteine synthetase deficiency (Disorders of the gamma-glutamyl cycle)
  • Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450
Tags
Green Green List (high evidence)
GCSH
6 reviews
2 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 7, OMIM:620423
  • Glycine encephalopathy
  • Transient neonatal hyperglycinemia
Tags
Green Green List (high evidence)
GCSH
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 7, OMIM:620423
  • Glycine encephalopathy
  • Transient neonatal hyperglycinemia
Tags
Green Green List (high evidence)
GDAP1
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706
  • Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340
  • Charcot-Marie-Tooth disease, type 4A, OMIM:214400
Tags
Green Green List (high evidence)
GFAP
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alexander disease, 203450
  • seizures
Tags
Green Green List (high evidence)
GFER
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Disorders of the mitochondrial import system
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076
  • Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Green Green List (high evidence)
GFM1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 1, 609060
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Green Green List (high evidence)
GFM2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 39, OMIM:618397
Tags
Green Green List (high evidence)
GFPT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542
  • Congenital myasthenic sydrome (Disorders of protein N-glycosylation)
Tags
Green Green List (high evidence)
GIF
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Intrinsic factor deficiency
Tags
  • new-gene-name
Green Green List (high evidence)
GK
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Glycerol kinase deficiency 307030
Tags
Green Green List (high evidence)
GLA
7 reviews
5 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Fabry disease (301500)
  • syndromic HCM
  • Fabry disease, cardiac variant (301500)
Tags
Green Green List (high evidence)
GLA
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Fabry disease, cardiac variant, 301500
  • Fabry Disease
  • Fabry disease (Sphingolipidoses)
  • Fabry disease, 301500
Tags
Green Green List (high evidence)
GLA
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Fabry disease, cardiac variant, OMIM:301500
Tags
Green Green List (high evidence)
GLB1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • GM1-gangliosidosis, type II, 230600
  • seizures
Tags
Green Green List (high evidence)
GLB1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 4B
  • MPS IVB, Morquio B disease (MPS IV, Morquio disease)
  • Mucopolysaccharidosis type IVB (Morquio), 253010
  • GM1-gangliosidosis (Sphingolipidoses)
  • GM1-gangliosidosis, type II, 230600
  • GM1-gangliosidosis, type III, 230650
  • Mucopolysaccharidosis, Type IV
  • Mucopolysaccharidosis Type IVB
  • GM1-gangliosidosis, type I, 230500
Tags
Green Green List (high evidence)
GLDC
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycine encephalopathy, 605899
  • seizures
Tags
Green Green List (high evidence)
GLDC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Glycine encephalopathy, 605899
Tags
Green Green List (high evidence)
GLRA1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperekplexia, hereditary 1, 149400
Tags
Green Green List (high evidence)
GLRA2
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
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic, Pilorge type, OMIM:301076
Tags
Green Green List (high evidence)
GLRX5
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
  • Disorders of iron homeostasis
Tags
Green Green List (high evidence)
GLS
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412
  • Developmental and epileptic encephalopathy 71, OMIM:618328
  • ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339
Tags
  • STR
  • watchlist_moi
Green Green List (high evidence)
GLUD1
5 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias)
  • Hyperinsulinism-hyperammonemia syndrome, 606762
Tags
Green Green List (high evidence)
GLUD1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperinsulinism-hyperammonemia syndrome, 606762
  • epilepsy
Tags
Green Green List (high evidence)
GLUL
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glutamine deficiency, congenital, 610015
  • seizures
Tags
Green Green List (high evidence)
GLUL
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Glutamine deficiency, congenital 610015
Tags
Green Green List (high evidence)
GLYCTK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • D-glyceric aciduria 220120
  • D-glyceric aciduria (Disorders of serine, glycine or glycerate metabolism)
Tags
Green Green List (high evidence)
GM2A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • GM2-gangliosidosis, AB variant, 272750
Tags
Green Green List (high evidence)
GM2A
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • GM2-gangliosidosis, AB variant, 272750
  • seizures
  • Hexosaminidase activator deficiency
  • Tay-Sachs disease
Tags
Green Green List (high evidence)
GMPPA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Alacrima, achalasia, and mental retardation syndrome (MIM# 615510)
Tags
Green Green List (high evidence)
GMPPB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351
  • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352
  • autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142
Tags
Green Green List (high evidence)
GNAO1
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
  • Epileptic encephalopathy, early infantile, 17
Tags
Green Green List (high evidence)
GNAQ
5 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sturge-Weber syndrome, somatic, mosaic, OMIM:185300
Tags
  • mosaicism
  • somatic
Green Green List (high evidence)
GNB1
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 42 OMIM:616973
  • intellectual disability, autosomal dominant 42 MONDO:0014855
Tags
Green Green List (high evidence)
GNB5
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review
  • Literature
Phenotypes
  • Intellectual developmental disorder with cardiac arrhythmia, OMIM:617173
Tags
Green Green List (high evidence)
GNE
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Sialuria OMIM:269921
  • sialuria MONDO:0010028
  • Nonaka myopathy OMIM:605820
  • GNE myopathy MONDO:0011603
Tags
Green Green List (high evidence)
GNMT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Glycine N-methyltransferase deficiency 606664
Tags
Green Green List (high evidence)
GNPAT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Rhizomelic chondrodysplasia punctata type 2 (Peroxisomal disorders)
  • Rhizomelic chondrodysplasia punctata, type 2 222765
Tags
Green Green List (high evidence)
GNPTAB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mucolipidosis, Type II
  • Mucolipidosis, Type III Alpha/Beta
  • Mucolipidosis III alpha/beta
  • Mucolipidosis II, I-cell disease (Other lysosomal disorders)
  • Mucolipidosis II alpha/beta
Tags
Green Green List (high evidence)
GNPTG
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mucolipidosis III, Pseudo-Hurler polydystrophy (Other lysosomal disorders)
  • mucolipidpsis type III complementation group C
  • Mucolipidosis, Type III Gamma
  • Mucolipidosis III gamma
Tags
Green Green List (high evidence)
GNS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses)
  • Mucopolysaccharidosis Type IIID
  • Mucopolysaccharidosis type IIID, 252940
  • Mucopolysaccharidosis Type III
  • Mucopolysaccharidosis, Type III
Tags
Green Green List (high evidence)
GORAB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Geroderma osteodysplasticum OMIM:231070
  • geroderma osteodysplastica MONDO:0009271
Tags
Green Green List (high evidence)
GOSR2
8 reviews
3 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert
Phenotypes
  • Epilepsy, progressive myoclonic 6, 614018
Tags
  • founder-effect
Green Green List (high evidence)
GOT2
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 82, OMIM:618721
  • Developmental and epileptic encephalopathy, 82, MONDO:0032880
Tags
  • treatable
Green Green List (high evidence)
GPAA1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 15, 617810
Tags
Green Green List (high evidence)
GPD1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Hypertriglyceridemia, transient infantile, 614480
Tags
Green Green List (high evidence)
GPHN
9 reviews
3 green 4 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert
Phenotypes
  • Molybdenum cofactor deficiency C, OMIM:615501
  • Developmental and epileptic encephalopathy, MONDO:0100062
Tags
Green Green List (high evidence)
GPHN
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Molybdenum cofactor deficiency C, OMIM:615501
  • Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism)
Tags
Green Green List (high evidence)
GPIHBP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Hyperlipoproteinemia, type 1D OMIM:615947
  • hyperlipoproteinemia, type 1D MONDO:0014412
Tags
Green Green List (high evidence)
GRHPR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Primary hyperoxaluria type II (Disorders of glyoxylate metabolism)
  • Hyperoxaluria, primary, type II
Tags
Green Green List (high evidence)
GRIA2
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Literature
Phenotypes
  • Neurodevelopmental disorder with language impairment and behavioral abnormalities, OMIM:618917
  • neurodevelopmental disorder with language impairment and behavioral abnormalities, MONDO:0030060
Tags
Green Green List (high evidence)
GRIA4
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864
Tags
Green Green List (high evidence)
GRIK2
6 reviews
5 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, autosomal recessive, 6, OMIM:611092
  • non-syndromic neurodevelopmental disorder (NDD), autosomal dominant
Tags
Green Green List (high evidence)
GRIN1
8 reviews
5 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254
  • intellectual disability, autosomal dominant 8 MONDO:0013655
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820
  • neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629
Tags
Green Green List (high evidence)
GRIN2A
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • UKGTN
  • Expert
  • Expert Review Green
Phenotypes
  • Epilepsy, focal, with speech disorder and with or without mental retardation
  • EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS
  • LANDAU-KLEFFNER SYNDROME
Tags
Green Green List (high evidence)
GRIN2B
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • UKGTN
  • Expert
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970
  • Developmental and epileptic encephalopathy 27, OMIM:616139
Tags
Green Green List (high evidence)
GRIN2D
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 46 617162
Tags
Green Green List (high evidence)
GRM7
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922
Tags
Green Green List (high evidence)
GRN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 11, OMIM:614706
  • neuronal ceroid lipofuscinosis 1, MONDO:0013866
Tags
Green Green List (high evidence)
GRN
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 11 OMIM:614706
  • neuronal ceroid lipofuscinosis 11 MONDO:0013866
Tags
Green Green List (high evidence)
GSS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Glutathione synthetase (GSS) deficiency
  • Glutathione synthetase deficiency 266130
  • Glutathione synthetase deficiency with 5-oxoprolinuria
  • Glutathione synthetase deficiency without 5-oxoprolinuria
  • Pyroglutamic aciduria
  • 5-oxoprolinuria
  • Hemolytic anemia due to glutathione synthetase deficiency 231900
  • Glutathione synthetase deficiency (Disorders of the gamma-glutamyl cycle)
  • Fanconi nephropathy
Tags
Green Green List (high evidence)
GTPBP2
5 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Jaberi-Elahi syndrome 617988
  • Global developmental delay
  • Intellectual disability
  • Seizures
Tags
Green Green List (high evidence)
GTPBP3
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 23 616198
Tags
Green Green List (high evidence)
GUSB
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • MetBioNet
  • Expert Review Green
  • MetBioNet
  • South West GLH
  • Expert Review Green
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)
GUSB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 7
  • Mucopolysaccharidosis VII, 253220
  • MPS VII, Sly disease (MPS IV, Morquio disease)
  • Mucopolysaccharidosis Type VII
  • Mucopolysaccharidosis, Type VII
Tags
Green Green List (high evidence)
GYG1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ?Glycogen storage disease XV
Tags
Green Green List (high evidence)
GYS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Glycogen storage disease 0, muscle
Tags
Green Green List (high evidence)
GYS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Glycogen Storage Disease
  • Glycogen Storage Disease Type 0, Liver
  • Glycogen Storage Disorders- Liver
  • Glycogen storage disease type 0a, liver (Glycogen storage disorders)
  • Glycogen storage disease, type 0, 240600
  • fasting intolerance without enlarged liver
Tags
Green Green List (high evidence)
H3F3A
7 reviews
2 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Developmental delay
  • Intellectual disability
  • Neurodegeneration
  • Epilepsy
  • Facial dysmorphism
  • Congenital anomalies
Tags
  • new-gene-name
Green Green List (high evidence)
H3F3B
8 reviews
2 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Developmental delay
  • Intellectual disability
  • Neurodegeneration
  • Epilepsy
  • Facial dysmorphism
  • Congenital anomalies
Tags
  • new-gene-name
Green Green List (high evidence)
HAAO
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple congenital malformations
  • VACTERL-like phenotype
Tags
Green Green List (high evidence)
HACE1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Spastic paraplegia and psychomotor retardation with or without seizures 616756
Tags
Green Green List (high evidence)
HADH
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
  • NHS GMS
Phenotypes
  • 3-hydroxyacyl-CoA dehydrogenase deficiency 231530
  • Hyperinsulinemic hypoglycemia, familial, 4 609975
Tags
Green Green List (high evidence)
HADHA
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation)
  • Trifunctional protein deficiency 609015
Tags
Green Green List (high evidence)
HADHA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • MetBioNet
  • Expert Review Green
  • MetBioNet
  • Expert Review Green
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
  • NHS GMS
  • London South GLH
  • MetBioNet
  • Expert Review Green
  • MetBioNet
  • London South GLH
  • Expert Review Green
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
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation)
  • Trifunctional protein deficiency 609015
Tags
Green Green List (high evidence)
HAMP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hemochromatosis, type 2B 613313
  • Hereditary haemochromatosis Type 2 (Disorder of iron metabolism)
Tags
Green Green List (high evidence)
HARS2
5 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • ?Perrault syndrome 2 614926
  • Perrault syndrome 2, 614926
Tags
Green Green List (high evidence)
HAX1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Literature
  • Literature
Phenotypes
  • Neutropenia, severe congenital 3, autosomal recessive, 610738
Tags
Green Green List (high evidence)
HCCS
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
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Linear skin defects with multiple congenital anomalies 1
  • Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Microphthalmia, syndromic 7, 309801
Tags
Green Green List (high evidence)
HCFC1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541
Tags
Green Green List (high evidence)
HCFC1
4 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type), 309541
Tags
Green Green List (high evidence)
HCN1
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 24
Tags
Green Green List (high evidence)
HCN2
6 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Genetic epilepsy with febrile seizures plus
  • Other seizure disorders
Tags
Green Green List (high evidence)
HCN4
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Sick sinus syndrome 2, OMIM:163800
Tags
Green Green List (high evidence)
HECTD4
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250
Tags
  • gene-checked
Green Green List (high evidence)
HECW2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neurodevelopmental disorder with hypotonia, seizures, and absent language 617268
Tags
Green Green List (high evidence)
HEPACAM
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925
Tags
Green Green List (high evidence)
HERC2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mental retardation, autosomal recessive 38, OMIM:615516
Tags
Green Green List (high evidence)
HEXA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • GM2-gangliosidosis, several forms, 272800
  • Tay-Sachs disease, 272800
Tags
Green Green List (high evidence)
HEXA
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • GM2-gangliosidosis, several forms, 272800
  • Tay-Sachs disease, 272800
Tags
Green Green List (high evidence)
HEXB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Tags
Green Green List (high evidence)
HEXB
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Tags
Green Green List (high evidence)
HFE
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hemochromatosis, OMIM:235200
Tags
Green Green List (high evidence)
HFE2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hemochromatosis, type 2A, 602390
  • Hereditary haemochromatosis Type 2 (Disorder of iron metabolism)
Tags
  • new-gene-name
Green Green List (high evidence)
HGD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Alkaptonuria
Tags
Green Green List (high evidence)
HGSNAT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis Type III
  • Mucopolysaccharidosis, Type III
  • Retinitis Pigmentosa 73
  • Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930
  • Mucopolysaccharidosis Type IIIC
  • MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses)
Tags
Green Green List (high evidence)
HIBCH
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620
  • HIBCH deficiency
  • Methacrylic aciduria (Organic acidurias)
Tags
Green Green List (high evidence)
HID1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic infantile encephalopathy
  • Hypopituitarism
  • Developmental and epileptic encephalopathy 105 with hypopituitarism, OMIM:619983
Tags
Green Green List (high evidence)
HLCS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Holocarboxylase synthetase deficiency
  • Holocarboxylase synthetase deficiency, 253270
  • lactic acidosis with seizures and eczema, immune deficiency
  • Holocarboxylase synthetase deficiency (Disorders of biotin metabolism)
Tags
Green Green List (high evidence)
HMBS
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Porphyria, acute intermittent, nonerythroid variant, 176000
  • Acute intermittent porphyria (Acute neuropathic porphyrias)
  • Porphyria, acute intermittent, 176000
Tags
Green Green List (high evidence)
HMGCL
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
  • Other
Phenotypes
  • 3-Hydroxy-3-methyl glutaric aciduria (Organic acidurias)
  • 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
  • HMG-CoA lyase deficiency, 246450
  • HMGCLD
Tags
Green Green List (high evidence)
HMGCL
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Other
  • Expert Review Green
  • Expert Review Green
  • Other
Phenotypes
  • HMG-CoA lyase deficiency, 246450
  • 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
  • HMGCLD
Tags
Green Green List (high evidence)
HMGCS2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • HMG-CoA synthase-2 deficiency
Tags
Green Green List (high evidence)
HNRNPH2
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
  • Wessex and West Midlands GLH
  • NHS GMS
  • Other
  • Expert Review Green
  • Expert Review Green
  • Other
Phenotypes
  • Mental retardation, X-linked, syndromic, Bain type, 300986
  • MRXSB
Tags
Green Green List (high evidence)
HNRNPR
6 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Postnatal microcephaly
  • Short digit
  • Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073
Tags
Green Green List (high evidence)
HNRNPU
7 reviews
1 green 4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy
  • Epileptic encephalopathy, early infantile, 54, 617391
Tags
Green Green List (high evidence)
HOGA1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hyperoxaluria Type III (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Hyperoxaluria, primary, type III 613616
Tags
Green Green List (high evidence)
HPD
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hawkinsinuria 140350
  • Tyrosinemia, type III 276710
Tags
Green Green List (high evidence)
HPDL
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613
Tags
  • gene-checked
Green Green List (high evidence)
HPRT1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hyperuricemia, HRPT-related, OMIM:300323
  • Lesch-Nyhan syndrome, OMIM:300322
Tags
Green Green List (high evidence)
HPS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hermansky-Pudlak syndrome 1 203300
Tags
Green Green List (high evidence)
HRAS
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Costello syndrome, 218040
  • Schimmelpenning-Feuerstein-Mims syndrome, 218040
Tags
Green Green List (high evidence)
HRAS
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert List
  • South West GLH
  • London South GLH
  • Expert Review Green
Phenotypes
  • Costello syndrome
  • syndromic HCM
Tags
Green Green List (high evidence)
HS2ST1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • dysmorphic features
  • congenital anomalies
Tags
Green Green List (high evidence)
HSD17B10
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 North GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • HSD10 mitochondrial disease, OMIM:300438
Tags
Green Green List (high evidence)
HSD17B4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • D-bifunctional protein deficiency, 261515
  • Peroxisomal D-bifunctional protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
Tags
Green Green List (high evidence)
HSD17B4
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • D-bifunctional protein deficiency, 261515
Tags
Green Green List (high evidence)
HSD3B7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • 3- ?-hydroxysterol ?5-oxidoreductase/isomerase deficiency (Disorders of bile acid biosynthesis)
  • Bile acid synthesis defect, congenital, 1, 607765
Tags
Green Green List (high evidence)
HSPA9
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Even-plus syndrome, OMIM:616854
Tags
Green Green List (high evidence)
HSPD1
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR)
  • Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD)
Tags
Green Green List (high evidence)
HTRA2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Literature
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria, type VIII
Tags
Green Green List (high evidence)
HTRA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria, type VIII 617248
Tags
Green Green List (high evidence)
HYAL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ?Mucopolysaccharidosis type IX, 601492
  • MPS IX, Natowicz (MPS IV, Morquio disease)
Tags
Green Green List (high evidence)
IARS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • No OMIM phenotype
Tags
Green Green List (high evidence)
IBA57
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330
  • ?Spastic paraplegia 74, autosomal recessive, OMIM:616451
Tags
Green Green List (high evidence)
IDH2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias)
  • D-2-hydroxyglutaric aciduria 2, 613657
Tags
Green Green List (high evidence)
IDH2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Green
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
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 2
  • MPS II, Hunter disease (Mucopolysaccharidoses)
  • Mucopolysaccharidosis II, 309900
  • Mucopolysaccharidosis Type II
Tags
Green Green List (high evidence)
IDUA
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • MetBioNet
  • Expert Review Green
  • MetBioNet
  • Expert Review Green
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)
IDUA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hurler syndrome
  • Mucopolysaccharidosis type 1H/S
  • MPS I, Hurler, Scheie disease (Mucopolysaccharidoses)
  • Scheie syndrome
  • Hurler-Scheie syndrome
  • Mucopolysaccharidosis type 1S
  • Mucopolysaccharidosis type 1H
  • Mucopolysaccharidosis Ih/s, 607015
  • Mucopolysaccharidosis, Type I
  • Mucopolysaccharidosis Is, 607016
  • Mucopolysaccharidosis Ih, 607014
Tags
Green Green List (high evidence)
IER3IP1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Other
  • Expert Review Green
  • Expert Review Green
  • Other
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, 614231
  • MEDS
Tags
Green Green List (high evidence)
IER3IP1
6 reviews
4 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Other
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, 614231
  • MEDS
Tags
Green Green List (high evidence)
IFIH1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aicardi-Goutieres syndrome 7, OMIM:615846
Tags
Green Green List (high evidence)
IKBKG
5 reviews
3 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
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Incontinentia pigmenti, OMIM:308300
Tags
Green Green List (high evidence)
IQSEC2
7 reviews
5 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, X-linked 1, OMIM:309530
Tags
Green Green List (high evidence)
IRF2BPL
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088
  • neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759
Tags
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
ISCA-37404-Loss
Region
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • ClinGen
Phenotypes
  • microcephaly
  • 105832
  • Developmental delay, muscle weakness
  • Mental retardation
  • Angelman syndrome
  • 176270
  • Prader-Willi syndrome
Tags
Green Green List (high evidence)
15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss
ISCA-37411-Loss
Region
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • ClinGen
Phenotypes
  • PMID: 19289393 incomplete penetrance for developmental delay, mental retardation, or borderline IQ in most and autistic spectrum disorder (6/14), speech delay, aggressiveness, attention deficit hyperactivity disorder, and other behavioural problems
  • 612001
  • PMID: 18278044 mental retardation, epilepsy and variable facial and digital dysmorphisms
  • PMID: 19136953 idiopathic generalized epilepsy without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia
Tags
Green Green List (high evidence)
16p13.11 recurrent region (includes MYH11) Loss
ISCA-37415-Loss
Region
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • ClinGen
Phenotypes
  • PMID: 18550696 Phenotypic variability, common features were identified: mental retardation, microcephaly and epilepsy in three patients, two of these had also short stature, and two other deletion carriers ascertained prenatally presented with cleft lip and midline defects
Tags
Green Green List (high evidence)
8p23.1 recurrent region (includes GATA4) Gain
ISCA-37423-Gain
Region
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • ClinGen
Phenotypes
  • Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele.
  • mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly)
  • congenital heart disease
  • 8p23.1 duplication syndrome
Tags
  • watchlist
Green Green List (high evidence)
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
ISCA-37429-Loss
Region
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • ClinGen
Phenotypes
  • Wolf-Hirschhorn syndrome, OMIM:194190
Tags
Green Green List (high evidence)
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss
ISCA-37430-Loss
Region
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • ClinGen
Phenotypes
  • microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tended to have macrosomia, facial dysmorphism, and mild developmental delay
  • growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment
  • Chromosome 17p13.3 duplication syndrome
  • prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw
  • Characteristic facies, pre- and post-natal growth retardation
  • 247200
  • classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities
  • Miller-Dieker lissencephaly syndrome
Tags
Green Green List (high evidence)
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain
ISCA-37432-Gain
Region
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • ClinGen
Phenotypes
  • developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia
  • Speech and language delay
  • Seizures (not all)
  • Chromosome 17q12 duplication syndrome
  • 614526
  • Behavioural difficulties
Tags
Green Green List (high evidence)
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
ISCA-37433-Loss
Region
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Learning difficulties
  • immune deficiency
  • renal anomalies
  • cleft palate, polydactyly
  • 22q11.2 deletion syndrome
  • diaphragmatic hernia
  • 192430
  • polyhydramnios
  • DiGeorge syndrome
  • Velocardiofacial syndrome
  • 188400
  • facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay
  • congenital heart disease
Tags
Green Green List (high evidence)
1p36 terminal region (includes GABRD) Loss
ISCA-37434-Loss
Region
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • ClinGen
Phenotypes
  • posteriorly rotated, low-set, abnormal ears
  • brachycephaly
  • epicanthus
  • heart defects
  • pointed chin
  • deep-set eyes
  • microcephaly
  • hypotonia
  • seizures
  • poor/absent speech
  • central nervous system anomalies
  • large anterior fontanels
  • microbrachycephaly
  • mental retardation
  • growth impairment
  • large, late-closing anterior fontanel
  • flat nose
  • nasal bridge
  • developmental delay
  • hearing impairment
  • distinct dysmorphic features
  • 1p36 deletion syndrome
  • 607872
Tags
Green Green List (high evidence)
2p21 region (includes PREPL and SLC3A1) Loss
ISCA-37440-Loss
Region
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • hyperphagia
  • lactic acidemia
  • mild/moderate mental retardation
  • Hypotonia-cystinuria syndrome (HCS)
  • 606407
  • failure to thrive
  • nephrolithiasis
  • rapid weight gain in late childhood
  • minor facial dysmorphism
  • growth hormone deficiency
  • facial dysmorphism
  • respiratory chain complex IV deficiency
  • cystinuria
  • neonatal seizures
  • 2p21 deletion syndrome
  • hypotonia
  • severe somatic and developmental delay
Tags
Green Green List (high evidence)
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
ISCA-37446-Loss
Region
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • micrognathia
  • neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells
  • clefting
  • DiGeorge syndrome
  • Velocardiofacial syndrome
  • 188400
  • cardiac malformations
  • Hearing deficits
Tags
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
ISCA-37478-Gain
Region
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • ClinGen
Phenotypes
  • hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636
  • chromosome 15q11-q13 duplication syndrome
  • autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems
Tags
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
ISCA-37478-Loss
Region
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • ClinGen
Phenotypes
  • microcephaly
  • Developmental delay, muscle weakness
  • Mental retardation
  • Angelman syndrome
  • 176270
  • Prader-Willi syndrome
  • 105830
Tags
Green Green List (high evidence)
1q43q44 terminal region (includes AKT3) Loss
ISCA-37493-Loss
Region
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • ClinGen
Phenotypes
  • microcephaly
  • seizures
  • agenesis of the corpus callosum
  • intellectual disability
  • hand and foot anomalies
  • 612337
  • non-specific craniofacial anomalies
  • hypoplasia
  • psychomotor retardation
  • hypogenesis of the corpus callosum
Tags
Green Green List (high evidence)
Xp11.22p11.23 recurrent region (includes SHROOM4) Gain
ISCA-46290-Gain
Region
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Green
  • ClinGen
Phenotypes
  • Idiopathic mental retardation, speech delay, and a peculiar electroencephalographic (EEG) pattern in childhood. Autism and epilepsy, severe intellectual disability and dysmorphic facial features. Moderate to severe intellectual disability, early onset of puberty, language impairment, and age related epileptic syndromes such as West syndrome and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep
  • 300801
Tags
Green Green List (high evidence)
15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss
ISCA-46295-Loss
Region
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • ClinGen
Phenotypes
  • seizures
  • 20236110
  • mental retardation
  • 22775350
  • dysmorphic features
  • developmental delay
  • severe epileptic encephalopathy
Tags
Green Green List (high evidence)
16p12.2 recurrent region (distal)(includes OTOA) Loss
ISCA-46297-Loss
Region
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Tags
Green Green List (high evidence)
Xq28 region (includes MECP2) Gain
ISCA-46304-Gain
Region
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
  • ClinGen
  • Expert Review Green
Tags
Green Green List (high evidence)
Xq25 region (includes STAG2) Gain
ISCA-46743-Gain
Region
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
  • ClinGen
  • Expert Review Green
Tags
Green Green List (high evidence)
ISCA1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613
Tags
Green Green List (high evidence)
ISCA2
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 4 616370
Tags
Green Green List (high evidence)
ISCU
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy with lactic acidosis, hereditary, 255125
  • Disorders of iron homeostasis
  • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Rhabdomyolysis and metabolic muscle disorders
Tags
  • non-coding-known-pathogenic
Green Green List (high evidence)
ISPD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Tags
  • new-gene-name
Green Green List (high evidence)
ITPA
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 35, 616647
Tags
Green Green List (high evidence)
ITPA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Inosine triphosphatase deficiency (Disorders of purine metabolism)
  • Epileptic encephalopathy, early infantile, 35, 616647
  • [Inosine triphosphatase deficiency], 613850
Tags
Green Green List (high evidence)
IVD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.
  • Isovaleric acidemia
  • Isovaleric aciduria (Organic acidurias)
Tags
Green Green List (high evidence)
JPH2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Tags
Green Green List (high evidence)
JUP
7 reviews
6 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Naxos disease, OMIM:601214
  • Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
Tags
Green Green List (high evidence)
JUP
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Green
Phenotypes
  • Naxos disease, OMIM:601214
  • Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
Tags
Green Green List (high evidence)
JUP
7 reviews
6 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Naxos disease, OMIM:601214
  • Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
Tags
Green Green List (high evidence)
KARS
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 89, 613916
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Charcot-Marie-Tooth disease, recessive intermediate, B (Lysyl-tRNA synthetase mutations) (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
Tags
  • new-gene-name
Green Green List (high evidence)
KARS
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Charcot-Marie-Tooth disease, recessive intermediate, B - 613641
  • Deafness, autosomal recessive 89 - 613916
Tags
  • new-gene-name
Green Green List (high evidence)
KAT5
7 reviews
2 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe global developmental delay
  • Intellectual disability
  • Seizures
  • Microcephaly
  • Behavioral abnormality
  • Sleep disturbance
  • Morphological abnormality of the central nervous system
  • Short stature
  • Oral cleft
  • Abnormality of the face
Tags
Green Green List (high evidence)
KAT8
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Li-Ghorgani-Weisz-Hubshman syndrome, OMIM:618974
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Abnormality of vision
  • Feeding difficulties
  • Abnormality of the cardiovascular system
  • Autism
Tags
  • missense
  • watchlist_moi
Green Green List (high evidence)
KCNA2
8 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review
Phenotypes
  • Developmental and epileptic encephalopathy 32 OMIM:616366
  • developmental and epileptic encephalopathy, 32 MONDO:0014607
Tags
Green Green List (high evidence)
KCNB1
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 26
Tags
Green Green List (high evidence)
KCNC1
8 reviews
1 green 4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review
Phenotypes
  • Epilepsy, progressive myoclonic 7 616187
Tags
Green Green List (high evidence)
KCNC2
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • epileptic encephalopathy
  • spastic tetraplegia
  • opisthotonus attacks
  • intellectual disability
  • West syndrome
Tags
Green Green List (high evidence)
KCND2
7 reviews
2 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review
  • Expert list
Phenotypes
  • epilepsy, NBO:0000642
  • seizure, HP:0001250
Tags
  • gene-checked
Green Green List (high evidence)
KCNE1
10 reviews
6 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Jervell and Lange-Nielsen syndrome 2, OMIM:612347
  • Long QT syndrome 5, OMIM:613695
Tags
Green Green List (high evidence)
KCNH1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Temple-Baraitser syndrome, OMIM:611816
  • Zimmermann-Laband syndrome 1, OMIM:135500
  • Intellectual disability
  • Encephalopathy without features of TBS/ZLS
Tags
Green Green List (high evidence)
KCNH2
7 reviews
5 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • West Midlands, Oxford and Wessex GLH
  • South West GLH
  • London South GLH
  • North West GLH
  • Long QT syndrome (Version 1.5)
  • Brugada syndrome (Version 1.7)
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Literature
Phenotypes
  • Brugada
  • Short QT syndrome 1 (609620)
  • ventricular fibrillation
  • cardiac arrest
  • Short QT syndrome 1 609620
  • Long QT syndrome-2 (613688)
  • short qt
  • atrial fibrillation
Tags
Green Green List (high evidence)
KCNH2
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Short QT syndrome 1 (609620)
  • Long QT syndrome-2
  • Long QT syndrome-2 (613688)
Tags
Green Green List (high evidence)
KCNH5
7 reviews
3 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review
  • Expert list
Phenotypes
  • Developmental and epileptic encephalopathy 112, OMIM:620537
Tags
Green Green List (high evidence)
KCNJ10
7 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert
  • Expert Review Green
Phenotypes
  • SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE (SESAME)
  • SESAME syndrome
Tags
Green Green List (high evidence)
KCNJ11
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diabetes, permanent neonatal, with or without neurologic features, 606176
  • DEND syndrome
Tags
Green Green List (high evidence)
KCNJ2
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Short QT syndrome 3, OMIM:609622
  • Short QT syndrome type 3, MONDO:0012314
  • Atrial fibrillation, familial, 9, OMIM:613980
  • Atrial fibrillation, familial, 9, MONDO:0013513
  • Andersen syndrome, OMIM:170390
  • Andersen-Tawil syndrome, MONDO:0008222
Tags
Green Green List (high evidence)
KCNJ2
7 reviews
4 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • West Midlands, Oxford and Wessex GLH
  • South West GLH
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Long QT syndrome (Version 1.5)
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Short QT syndrome 3, OMIM:609622
  • Short QT syndrome type 3, MONDO:0012314
  • Atrial fibrillation, familial, 9, OMIM:613980
  • Atrial fibrillation, familial, 9, MONDO:0013513
  • Andersen syndrome, OMIM:170390
  • Andersen-Tawil syndrome, MONDO:0008222
Tags
Green Green List (high evidence)
KCNK4
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Literature
  • Expert Review
Phenotypes
  • Neurodevelopmental delay
  • Intellectual disability
  • Seizures
  • Gingival overgrowth
  • Hypertrichosis
Tags
Green Green List (high evidence)
KCNMA1
13 reviews
4 green 5 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert
Phenotypes
  • Cerebellar atrophy, developmental delay, and seizures, OMIM:617643
  • Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551
  • Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446
  • Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276
  • Liang-Wang syndrome, OMIM:618729
  • Liang-Wang syndrome, MONDO:0032886
  • {Epilepsy, idiopathic generalized, susceptibility to, 16}, OMIM:618596
  • Epilepsy, idiopathic generalized, susceptibility to, 16, MONDO:0032827
Tags
Green Green List (high evidence)
KCNQ1
8 reviews
6 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Jervell and Lange-Nielsen syndrome (220400)
  • Atrial fibrillation, familial, 3 (607554)
  • Long QT syndrome-1 (192500)
  • Long QT syndrome-1
  • Short QT syndrome 2 (609621)
Tags
Green Green List (high evidence)
KCNQ1
9 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • West Midlands, Oxford and Wessex GLH
  • Expert Review Green
  • South West GLH
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Long QT syndrome (Version 1.5)
  • Emory Genetics Laboratory
  • Other
Phenotypes
  • Short QT syndrome 2, OMIM:609621
  • Long QT syndrome-1, OMIM:192500
  • Atrial fibrillation, familial, 3, OMIM:607554
Tags
Green Green List (high evidence)
KCNQ2
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 7, OMIM:613720
  • Seizures, benign neonatal, 1, OMIM:121200
Tags
Green Green List (high evidence)
KCNQ3
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert
  • Expert Review Green
Phenotypes
  • Seizures, benign neonatal, type 2
Tags
Green Green List (high evidence)
KCNQ5
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 46, 617601
Tags
Green Green List (high evidence)
KCNT1
8 reviews
6 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 14
  • Epilepsy, nocturnal frontal lobe, 5
  • MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY
  • SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY
Tags
Green Green List (high evidence)
KCNT2
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review
  • Expert Review Green
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • epilepsy
  • ?Epileptic encephalopathy, early infantile, 57
Tags
Green Green List (high evidence)
KCTD3
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • No OMIM number
  • Epileptic encephalopathy
Tags
  • gene-checked
Green Green List (high evidence)
KCTD7
7 reviews
1 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert
Phenotypes
  • Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 611726
Tags
Green Green List (high evidence)
KDM6B
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, OMIM:618505
  • neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, MONDO:0032790
Tags
Green Green List (high evidence)
KIAA1109
5 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Alkuraya-Kucinskas syndrome 617822
  • seizures
Tags
  • new-gene-name
Green Green List (high evidence)
KIF1A
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • NESCAV syndrome, OMIM:614255
Tags
Green Green List (high evidence)
KIF2A
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 3, 615411
Tags
Green Green List (high evidence)
KIF5C
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 2, 615282
Tags
Green Green List (high evidence)
KLHL20
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder
Tags
  • gene-checked
Green Green List (high evidence)
KMT2E
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • O'Donnell-Luria-Rodan syndrome, 618512
  • Global developmental delay
  • Intellectual disability
  • Autism
  • Seizures
  • Abnormality of skull size
Tags
Green Green List (high evidence)
KPTN
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 41, OMIM:615637
  • macrocephaly-developmental delay syndrome, MONDO:0014289
Tags
Green Green List (high evidence)
KRAS
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiofaciocutaneous syndrome 2, 615278
Tags
Green Green List (high evidence)
KRAS
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert List
  • South West GLH
  • London South GLH
  • Expert Review Green
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)
KYNU
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism)
  • VACTERL-like phenotype
  • multiple congenital malformations
  • ?Hydroxykynureninuria, 236800
Tags
Green Green List (high evidence)
L2HGDH
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • L-2-hydroxyglutaric aciduria, 236792
Tags
Green Green List (high evidence)
LAMP2
7 reviews
5 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Danon disease (300257)
  • syndromic HCM
Tags
Green Green List (high evidence)
LAMP2
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Danon disease, 300257
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
  • NHS GMS
  • Literature
Phenotypes
  • Danon disease (300257)
Tags
Green Green List (high evidence)
LAMP2
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Danon disease
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
  • NHS GMS
  • South West GLH
  • London South GLH
  • Expert Review Green
Phenotypes
  • syndromic HCM
  • Danon disease
Tags
Green Green List (high evidence)
LARGE1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154
  • N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
LARS
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?Infantile liver failure syndrome 1, 615438
Tags
  • new-gene-name
Green Green List (high evidence)
LARS
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Infantile liver failure syndrome 1, MIM# 615438
Tags
  • new-gene-name
Green Green List (high evidence)
LARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Perrault syndrome 4, OMIM:615300
  • Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
  • 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)
LBR
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • ?Reynolds syndrome 613471
  • Greenberg skeletal dysplasia 215140
  • Pelger-Huet anomaly 169400
  • Pelger-Huet anomaly with mild skeletal anomalies 618019
Tags
Green Green List (high evidence)
LCAT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Norum disease/LCAT deficiency, 245900
  • Fish-eye disease, 136120
  • Lecithin cholesterol acyltransferase deficiency (Disorders of high density lipoprotein metabolism)
Tags
Green Green List (high evidence)
LCT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Lactose intolerance (Other carbohydrate disorders)
  • Lactase deficiency, congenital, 223000
Tags
Green Green List (high evidence)
LDB3
5 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1C, with or without LVNC, OMIM:601493
  • dilated cardiomyopathy, MONDO:0005021
Tags
Green Green List (high evidence)
LDHA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Glycogen Storage Disease
  • Glycogen storage disease XI, 612933
  • Muscle LDH deficiency (Glycogen storage disorders)
Tags
Green Green List (high evidence)
LDLR
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hypercholesterolemia, familial, 1 143890
  • LDL cholesterol level QTL2 143890
Tags
Green Green List (high evidence)
LDLRAP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hypercholesterolemia, familial, 4 603813
Tags
Green Green List (high evidence)
LETM1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
Phenotypes
  • Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
Tags
Green Green List (high evidence)
LETM1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
Phenotypes
  • Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
Tags
Green Green List (high evidence)
LETM1
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
Tags
Green Green List (high evidence)
LGI1
9 reviews
5 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Expert Review Green
  • UKGTN
Phenotypes
  • Epilepsy, familial temporal lobe, 1 600512
Tags
Green Green List (high evidence)
LIAS
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462
  • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Tags
Green Green List (high evidence)
LIAS
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperglycinemia, lactic acidosis, and seizures, 614462
Tags
Green Green List (high evidence)
LIPA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cholesteryl ester storage disease
Tags
Green Green List (high evidence)
LIPT1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Lipoyltransferase 1 deficiency
Tags
Green Green List (high evidence)
LIPT2
4 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668
Tags
Green Green List (high evidence)