Description
This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R109 Childhood onset leukodystrophy' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R109 Childhood onset leukodystrophy'.

This panel is a super panel composed of constituent panels) 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. 

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:
- Intellectual disability - microarray and sequencing v5.0 https://panelapp.genomicsengland.co.uk/api/v1/panels/285/?version=5.0
- Mitochondrial disorders v4.0 https://panelapp.genomicsengland.co.uk/api/v1/panels/112/?version=4.0
- Likely inborn error of metabolism - targeted testing not possible v4.0 https://panelapp.genomicsengland.co.uk/api/v1/panels/467/?version=4.0
- White matter disorders and cerebral calcification - narrow panel v3.0 https://panelapp.genomicsengland.co.uk/api/v1/panels/476/?version=3.0

The constituent panels will continue to be curated based on external reviews and Genomics England curation. New changes to constituent panels will be reflected in an increase to the minor version of the panel and details of these can be viewed on each constituent panel '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.

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

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

4417 Entities

4055 reviewed, 2625 green

List Entity Reviews Mode of inheritance Details
4417 Entitiess
Green Green List (high evidence)
AAAS
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
  • Triple-A syndrome, MONDO:0009279
Tags
Green Green List (high evidence)
AARS
5 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 29, OMIM:616339
  • Developmental and epileptic encephalopathy, 29, MONDO:0014593
Tags
  • new-gene-name
Green Green List (high evidence)
AARS
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • 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
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with ovarian failure
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
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)
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)
AASS
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
4 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • GABA-transaminase deficiency, 613163
  • developmental delay
Tags
Green Green List (high evidence)
ABAT
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • mtDNA depletion syndrome
  • 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)
ABCA2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with poor growth and with or without seizures or ataxia, OMIM:618808
  • Intellectual developmental disorder with poor growth and with or without seizures or ataxia, MONDO:0032930
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)
ABCB7
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert list
  • Expert
Phenotypes
  • Disorders of iron homeostasis
  • Anemia, sideroblastic, with ataxia
  • congenital cerebellar hypoplasia/atrophy (PMID: 26242992).
Tags
Green Green List (high evidence)
ABCC9
9 reviews
4 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Intellectual disability and myopathy syndrome, OMIM:619719
  • intellectual disability and myopathy syndrome, MONDO:0859224
Tags
  • Q1_24_MOI
  • Q1_24_NHS_review
Green Green List (high evidence)
ABCD1
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Adrenomyeloneuropathy, adult, 300100
  • Adrenoleukodystrophy, X-linked
  • Adrenoleukodystrophy
  • Adrenoleukodystrophy, 300100
  • X-Linked Adrenoleukodystrophy
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)
ABCD1
4 reviews
3 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Adrenoleukodystrophy, 300100
  • Adrenomyeloneuropathy, adult, 300100
  • ADRENOLEUKODYSTROPHY, X-LINKED
Tags
  • gene-therapy-trial
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)
ABCD4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblJ type, 614857
  • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE
  • MAHCJ
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)
ABHD16A
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Spastic paraplegia
  • Intellectual disability
Tags
Green Green List (high evidence)
ABHD16A
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia
  • Intellectual disability
Tags
Green Green List (high evidence)
ABHD5
5 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Chanarin-Dorfman syndrome, 275630
  • CHANARIN-DORFMAN SYNDROME (CDS)
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)
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
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ACAD9 deficiency, 611126
  • ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY
Tags
Green Green List (high evidence)
ACAD9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex I deficiency
  • ACAD9 deficiency, 611126
  • Mitochondrial complex I deficiency due to ACAD9 deficiency
Tags
Green Green List (high evidence)
ACADM
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY
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
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Acyl-CoA dehydrogenase, short-chain, deficiency of 201470
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)
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)
ACBD5
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinal dystrophy with leukodystrophy, OMIM:618863
Tags
Green Green List (high evidence)
ACER3
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Leukodystrophy, progressive, early childhood-onset, OMIM:617762
Tags
Green Green List (high evidence)
ACER3
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Leukodystrophy, progressive, early childhood-onset, OMIM:617762
Tags
Green Green List (high evidence)
ACO2
5 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Infantile cerebellar-retinal degeneration, 614559
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)
ACO2
5 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Infantile cerebellar-retinal degeneration, OMIM:614559
  • Infantile cerebellar-retinal degeneration, MONDO:0013802
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
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
  • Mitchell syndrome, OMIM:618960
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
ACOX1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
  • Mitchell syndrome, OMIM:618960
Tags
  • watchlist_moi
Green Green List (high evidence)
ACP5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia
  • Spondyloenchondrodysplasia with immune dysregulation
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)
ACSL4
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Mental retardation, X-linked 63, OMIM:300387
  • Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome, MONDO:0010263
Tags
  • Skewed X-inactivation
Green Green List (high evidence)
ACTB
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
  • BARAITSER-WINTER SYNDROME
Tags
Green Green List (high evidence)
ACTG1
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Deafness, autosomal dominant 20/26, 604717Baraitser-Winter syndrome 2, 614583
  • BARAITSER-WINTER SYNDROME
Tags
Green Green List (high evidence)
ACTL6A
5 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • developmental delay
  • intellectual disability
Tags
  • gene-checked
Green Green List (high evidence)
ACTL6B
5 reviews
1 green 3 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 76, OMIM:618468
  • Intellectual developmental disorder with severe speech and ambulation defects, OMIM:618470
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)
ACY1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Aminoacylase 1 deficiency, 609924
  • AMINOACYLASE-1 DEFICIENCY
Tags
Green Green List (high evidence)
ADA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Combined B and T cell defect
  • Adenosine deaminase deficiency (Disorders of purine metabolism)
  • SCID
  • Infantile enterocolitis & monogenic inflammatory bowel disease
Tags
Green Green List (high evidence)
ADAM22
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ?Epileptic encephalopathy, early infantile, 61 OMIM:617933
  • developmental and epileptic encephalopathy, 61 MONDO:0033370
Tags
Green Green List (high evidence)
ADAR
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome 6, OMIM:615010
  • Dyschromatosis symmetrica hereditaria, OMIM:127400
Tags
Green Green List (high evidence)
ADAR
5 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Aicardi-Goutieres syndrome 6, OMIM:615010
  • Dyschromatosis symmetrica hereditaria, OMIM:127400
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
3 reviews
2 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)
ADAT3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review
Phenotypes
  • Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, OMIM:615286
Tags
Green Green List (high evidence)
ADD1
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Ventriculomegaly
  • Abnormality of the corpus callosum
Tags
Green Green List (high evidence)
ADD3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cerebral palsy, spastic quadriplegic, 3, MIM#617008
Tags
Green Green List (high evidence)
ADGRG1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Polymicrogyria, bilateral frontoparietal, 606854
Tags
Green Green List (high evidence)
ADK
4 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypermethioninemia due to adenosine kinase deficiency 614300
Tags
Green Green List (high evidence)
ADNP
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28
  • MRD28
Tags
Green Green List (high evidence)
ADSL
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ade(-)I bifunctional Adenylosuccinase deficiency, 103050
  • ADENYLOSUCCINASE DEFICIENCY (ADSL DEFICIENCY)
Tags
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)
AFF2
4 reviews
3 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Mental retardation, X-linked, FRAXE type, 309548
  • FRAXE Syndrome
  • FRAGILE X-E MENTAL RETARDATION SYNDROME (FRAXE)
Tags
  • nucleotide-repeat-expansion
Green Green List (high evidence)
AFF3
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • KINSSHIP syndrome, OMIM:619297
Tags
  • missense
Green Green List (high evidence)
AFF4
6 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • CORNELIA DE LANGE-LIKE SYNDROME
Tags
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)
AFG3L2
4 reviews
2 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
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)
AGA
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Aspartylglucosaminuria, 208400
  • ASPARTYLGLUCOSAMINURIA (AGU)
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)
AGK
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Sengers syndrome, 212350
  • Mitochondrial DNA depletion syndrome 10
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • 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
7 reviews
2 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, OMIM:620292
Tags
Green Green List (high evidence)
AGO2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • regression
  • seizures
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
5 reviews
1 green 3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752
Tags
  • treatable
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)
AHDC1
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • XIA-GIBBS SYNDROME
Tags
Green Green List (high evidence)
AHI1
6 reviews
2 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Joubert syndrome 3 608629
Tags
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)
AIFM1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Disorders of mitochondrial apoptosis
  • Combined oxidative phosphorylation deficiency 6, 300816
  • Cowchock syndrome, 310490
Tags
Green Green List (high evidence)
AIFM1
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cowchock syndrome, OMIM:310490
  • Combined oxidative phosphorylation deficiency 6, OMIM:300816
  • Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, OMIM:300232
Tags
Green Green List (high evidence)
AIFM1
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, OMIM:300232
Tags
Green Green List (high evidence)
AIMP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 3, OMIM:260600
Tags
Green Green List (high evidence)
AIMP1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
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
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Tags
  • mosaicism
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
  • Erythropoietic protoporphyria, mild variant
  • X-linked sideroblastic anaemia (XLSA) (Porphyrias with acute painful photosensitivity)
  • X-linked dominant protoporphyria (Porphyrias with acute painful photosensitivity)
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)
ALDH18A1
3 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cutis laxa, autosomal recessive, type IIIA, 219150
  • SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT
  • SPG9
Tags
Green Green List (high evidence)
ALDH3A2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Sjogren-Larsson syndrome, OMIM:270200
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
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)
ALDH3A2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Sjogren-Larsson syndrome, OMIM:270200
Tags
Green Green List (high evidence)
ALDH4A1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperprolinemia, type II, 239510
  • HYPERPROLINEMIA TYPE 2 (HP-2)
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
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
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
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)
ALDH7A1
5 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • PYRIDOXINE-DEPENDENT EPILEPSY
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
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)
ALG1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type Ik, 608540
  • ALG1-CDG (CDG-IK)
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)
ALG11
5 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ip 613661
  • ALG11-CDG (CDG-IP)
Tags
Green Green List (high evidence)
ALG12
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G (CDG1G)
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
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
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHIES.
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
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)
ALG3
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Id, 601110
  • ALG3-CDG (CDG-ID)
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
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ic, 603147
  • ALG6-CDG (CDG-IC)
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)
ALG8
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ih, 608104
  • ALG8-CDG (CDG-IH)
Tags
Green Green List (high evidence)
ALG9
7 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Developmental delay
  • Congenital disorder of glycosylation, type Il 608776
  • Gillessen-Kaesbach-Nishimura syndrome 263210
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)
ALKBH8
7 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
  • Expert Review
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 71, OMIM:618504
Tags
Green Green List (high evidence)
ALMS1
5 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ALSTROM SYNDROME, 203800
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)
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)
AMER1
4 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
  • Victorian Clinical Genetics Services
  • BRIDGE study SPEED NEURO Tier1 Gene
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Osteopathia striata with cranial sclerosis 300373
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
5 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • PONTOCEREBELLAR HYPOPLASIA
  • Pontocerebellar hypoplasia, type 9, 615809
Tags
Green Green List (high evidence)
AMT
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Glycine encephalopathy, 605899
  • GLYCINE ENCEPHALOPATHY
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)
ANK2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex neurodevelopmental disorder, MONDO:0100038
Tags
Green Green List (high evidence)
ANK3
7 reviews
4 green 2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 37, OMIM:615493
  • intellectual disability-hypotonia-spasticity-sleep disorder syndrome, MONDO:0014210
Tags
Green Green List (high evidence)
ANKRD11
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • KBG syndrome, 148050
  • KBG SYNDROME
Tags
Green Green List (high evidence)
ANKRD17
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability, speech delay, and dysmorphism
Tags
Green Green List (high evidence)
ANO10
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 10, OMIM:613728
  • autosomal recessive spinocerebellar ataxia 10, MONDO:0013392
Tags
  • Q3_23_expert_review
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
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder (NDD)
  • Intellectual Disability
  • Epilepsy
Tags
Green Green List (high evidence)
AP1S1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Literature
Phenotypes
  • MEDNIK syndrome, 609313
  • MEDNIK syndrome
  • mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma syndrome
Tags
Green Green List (high evidence)
AP1S2
0 reviews
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
Phenotypes
  • Pettigrew syndrome, OMIM:304340
  • Calcifications in basal ganglia
Tags
Green Green List (high evidence)
AP1S2
4 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
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Pettigrew syndrome, OMIM:304340
Tags
Green Green List (high evidence)
AP2M1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • 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)
AP3B1
4 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hermansky-Pudlak syndrome 2 608233
Tags
Green Green List (high evidence)
AP3B2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 48 617276
Tags
Green Green List (high evidence)
AP4B1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 47, autosomal recessive, OMIM:614066
  • Hereditary spastic paraplegia 47, MONDO:0013551
Tags
Green Green List (high evidence)
AP4B1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 47, autosomal recessive, OMIM:614066
  • Hereditary spastic paraplegia 47, MONDO:0013551
Tags
Green Green List (high evidence)
AP4E1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 51, autosomal recessive, OMIM:613744
  • Hereditary spastic paraplegia 51, MONDO:0013401
Tags
Green Green List (high evidence)
AP4M1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 50, autosomal recessive, 612936
  • CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 (CPSQ3)
Tags
Green Green List (high evidence)
AP4S1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 52, autosomal recessive, 614067
  • CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6
Tags
Green Green List (high evidence)
APC2
2 reviews
1 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)
APOPT1
5 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
Tags
  • new-gene-name
Green Green List (high evidence)
APOPT1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
Tags
  • new-gene-name
Green Green List (high evidence)
APOPT1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
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)
APTX
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Disorders of ubiquinone metabolism and biosynthesis
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
  • Ataxia with oculomotor apraxia 1
Tags
Green Green List (high evidence)
ARCN1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Literature
Phenotypes
  • Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164
Tags
Green Green List (high evidence)
ARF1
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Periventricular nodular heterotopia 8, OMIM:618185
Tags
Green Green List (high evidence)
ARFGEF1
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • 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
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Periventricular heterotopia with microcephaly, 608097
  • PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY
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)
ARG1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Argininemia, OMIM:207800
Tags
Green Green List (high evidence)
ARHGEF9
4 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
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Developmental and epileptic encephalopathy 8, OMIM:300607
Tags
Green Green List (high evidence)
ARID1A
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, autosomal dominant 14, 614607
  • COFFIN-SIRIS SYNDROME
  • CSS
Tags
Green Green List (high evidence)
ARID1B
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, autosomal dominant 12, 614562
  • COFFIN SIRIS SYNDROME
Tags
Green Green List (high evidence)
ARID2
6 reviews
2 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Coffin-Siris syndrome 6, 617808
  • ARID2-Coffin-Siris like disorder
Tags
Green Green List (high evidence)
ARL13B
6 reviews
2 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Joubert syndrome 8, 612291
  • Intellectual disability
Tags
Green Green List (high evidence)
ARL6
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet-Biedl syndrome 3, 209900{Bardet-Biedl syndrome 1, modifier of}, 209900Retinitis pigmentosa 55, 613575
  • BARDET-BIEDL SYNDROME TYPE 3 (BBS3)
Tags
Green Green List (high evidence)
ARMC9
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome
  • Intellectual Disability
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)
ARSA
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ARYLSULFATASE A DEFICIENCY
Tags
Green Green List (high evidence)
ARSA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Metachromatic leukodystrophy, 250100
  • Arylsulfatase A Deficiency
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)
ARSB
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 6 (MPS6)
Tags
Green Green List (high evidence)
ARSE
5 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
Tags
  • new-gene-name
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
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 38
Tags
Green Green List (high evidence)
ARX
4 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Epileptic encephalopathy, early infantile, 1, 308350Lissencephaly, X-linked 2, 300215Mental retardation, X-linked 29 and others, 300419Proud syndrome, 300004Partington syndrome, 309510Hydranencephaly with abnormal genitalia, 300215
  • MENTAL RETARDATION X-LINKED ARX-RELATED (MRXARX)
Tags
  • nucleotide-repeat-expansion
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
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • FARBER LIPOGRANULOMATOSIS
Tags
Green Green List (high evidence)
ASH1L
6 reviews
2 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Mental retardation, autosomal dominant 52, 617796
  • intellectual disability
Tags
Green Green List (high evidence)
ASL
5 reviews
2 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Argininosuccinic aciduria, OMIM:207900
  • argininosuccinic aciduria, MONDO:0008815
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)
ASNS
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Asparagine synthetase deficiency, 615574
  • congenital microcephaly, intellectual disability, progressive cerebral atrophy, intractable seizures
Tags
Green Green List (high evidence)
ASPA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy, 25655951
Tags
Green Green List (high evidence)
ASPA
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Canavan disease, 271900
  • CANAVAN DISEASE
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)
ASPM
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly 5, primary, autosomal recessive, OMIM:608716
Tags
Green Green List (high evidence)
ASS1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Citrullinemia, 215700
  • intellectual disability
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)
ASXL1
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bohring-Opitz syndrome, 605039Myelodysplastic syndrome, somatic, 614286
  • BOHRING-OPITZ SYNDROME
Tags
Green Green List (high evidence)
ASXL2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Shashi-Pena syndrome 617190
Tags
Green Green List (high evidence)
ASXL3
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Bainbridge-Ropers syndrome, OMIM:615485
Tags
Green Green List (high evidence)
ATAD1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hyperekplexia 4, OMIM:618011
Tags
  • treatable
Green Green List (high evidence)
ATAD3A
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Harel-Yoon syndrome, OMIM:617183
  • Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810
Tags
Green Green List (high evidence)
ATAD3A
3 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Harel-Yoon syndrome 617183
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)
ATG7
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 31, OMIM:619422
Tags
Green Green List (high evidence)
ATIC
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • AICA-ribosiduria due to ATIC deficiency, 608688
  • AICA-RIBOSURIA (AICAR)
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)
ATM
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Ataxia-telangiectasia, OMIM:208900
Tags
Green Green List (high evidence)
ATN1
5 reviews
3 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
Tags
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)
ATP13A2
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • PARKINSON DISEASE 9
Tags
Green Green List (high evidence)
ATP1A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • Expert Review
Phenotypes
  • Hypomagnesemia
  • Seizures
  • Intellectual disability
Tags
Green Green List (high evidence)
ATP1A2
5 reviews
2 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Migraine, familial hemiplegic, 2 602481
  • Alternating hemiplegia of childhood 1, 104290
Tags
Green Green List (high evidence)
ATP1A3
7 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Alternating Hemiplegia of Childhood (AHC), intellectual disability
Tags
Green Green List (high evidence)
ATP2B1
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 66, 619910
Tags
Green Green List (high evidence)
ATP5A1
7 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
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)
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
  • NHS GMS
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, 618120
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)
ATP5G3
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681
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
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
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)
ATP6AP2
6 reviews
2 green 2 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Mental retardation, X-linked, syndromic, Hedera type, 300423
  • MENTAL RETARDATION X-LINKED WITH EPILEPSY
  • X-linked intellectual disability, Hedera type
Tags
Green Green List (high evidence)
ATP6V0A1
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • ATP6V0A1-related developmental disorder (monoallelic)
Tags
Green Green List (high evidence)
ATP6V0A2
4 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cutis laxa, autosomal recessive, type IIA 219200
  • Wrinkly skin syndrome 278250
Tags
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)
ATP6V1A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 93, OMIM:618012
Tags
Green Green List (high evidence)
ATP6V1B2
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • ZIMMERMANN-LABAND SYNDROME
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
3 reviews
3 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Menkes disease, 309400Occipital horn syndrome, 304150Spinal muscular atrophy, distal, X-linked 3, 300489
  • OCCIPITAL HORN SYNDROME
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)
ATP8A2
5 reviews
1 green 3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM:615268
  • cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 MONDO:0014104
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)
ATP9A
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Literature
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Postnatal microcephaly
  • Failure to thrive
  • Abnormality of the abdomen
  • Neurodevelopmental disorder with poor growth and behavioral abnormalities, OMIM:620242
Tags
Green Green List (high evidence)
ATPAF2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex V deficiency
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
  • Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
  • Mitochondrial Diseases
Tags
  • watchlist
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)
ATR
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Seckel syndrome 1, 210600Cutaneous telangiectasia and cancer syndrome, familial, 614564
  • SECKEL SYNDROME TYPE 1 (SCKL1)
Tags
Green Green List (high evidence)
ATRX
4 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
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
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)
AUH
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 3-methylglutaconic aciduria, type I, 250950
  • 3-METHYLGLUTACONIC ACIDURIA TYPE 1
Tags
Green Green List (high evidence)
AUH
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • 3-methylglutaconic aciduria, type I, OMIM:250950
Tags
Green Green List (high evidence)
AUTS2
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • SYNDROMIC INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
B3GALNT2
2 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)
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)
B3GLCT
4 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peters-plus syndrome, 261540
Tags
Green Green List (high evidence)
B4GALNT1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review
Phenotypes
  • Spastic paraplegia 26, autosomal recessive OMIM:609195
  • hereditary spastic paraplegia 26 MONDO:0012213
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)
B4GALT7
4 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ehlers-Danlos syndrome, progeroid type, 1, 130070
  • EHLERS-DANLOS SYNDROME PROGEROID TYPE (EDSP)
Tags
Green Green List (high evidence)
B9D2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome 34, OMIM:614175
  • Meckel syndrome 10, OMIM:614175
  • Meckel syndrome, type 10, MONDO:0013609
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)
BAP1
3 reviews
3 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)
BBS1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet-Biedl syndrome 1 OMIM:209900
  • Bardet-Biedl syndrome 1 MONDO:0008854
Tags
Green Green List (high evidence)
BBS10
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet-Biedl syndrome 10, 209900
  • BARDET-BIEDL SYNDROME TYPE 10 (BBS10)
Tags
Green Green List (high evidence)
BBS12
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet-Biedl syndrome 12, 209900
  • BARDET-BIEDL SYNDROME TYPE 12 (BBS12)
Tags
Green Green List (high evidence)
BBS2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet-Biedl syndrome 2, 209900
  • BARDET-BIEDL SYNDROME TYPE 2 (BBS2)
Tags
Green Green List (high evidence)
BBS4
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet-Biedl syndrome 4, 209900
  • BARDET-BIEDL SYNDROME TYPE 4 (BBS4)
Tags
Green Green List (high evidence)
BBS5
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet-Biedl syndrome 5, 209900
  • BARDET-BIEDL SYNDROME TYPE 5 (BBS5)
Tags
Green Green List (high evidence)
BBS7
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet-Biedl syndrome 7, 209900
  • BARDET-BIEDL SYNDROME TYPE 7 (BBS7)
Tags
Green Green List (high evidence)
BBS9
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet-Biedl syndrome 9, 209900
  • BARDET-BIEDL SYNDROME TYPE 9 (BBS9)
Tags
Green Green List (high evidence)
BCAP31
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Deafness, dystonia and cerebellar hypomyelination, 300475
Tags
Green Green List (high evidence)
BCAP31
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
Tags
Green Green List (high evidence)
BCAS3
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic neurodevelopmental disorder
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
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Maple syrup urine disease, type Ia, 248600
  • MAPLE SYRUP URINE DISEASE
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
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Maple syrup urine disease, type Ib, 248600
  • MAPLE SYRUP URINE DISEASE
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)
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)
BCKDK
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Literature
Phenotypes
  • Branched-chain ketoacid dehydrogenase kinase deficiency, 614923
  • Intellectual disability
Tags
Green Green List (high evidence)
BCL11A
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
BCL11B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092
Tags
Green Green List (high evidence)
BCOR
3 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
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Microphthalmia, syndromic 2, 300166
  • MICROPHTHALMIA SYNDROMIC TYPE 2 (MCOPS2)
Tags
Green Green List (high evidence)
BCS1L
6 reviews
2 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 1, 124000
  • Leigh syndrome, 256000
  • Bjornstad syndrome, 262000
Tags
Green Green List (high evidence)
BCS1L
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex III disorders
  • Mitochondrial Leukoencephalopathy
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
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex III deficiency
  • Mitochondrial complex III deficiency, nuclear type 1, 124000
  • Leigh syndrome, 256000
  • Bjornstad syndrome, 262000
  • GRACILE syndrome, 603358
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex III Deficiency
Tags
Green Green List (high evidence)
BICRA
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features
Tags
Green Green List (high evidence)
BLM
5 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bloom syndrome, OMIM:210900
Tags
Green Green List (high evidence)
BLOC1S1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • severe intellectual disability
  • severe global developmental delay
  • epilepsy
Tags
  • gene-checked
Green Green List (high evidence)
BLOC1S1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • severe intellectual disability
  • severe global developmental delay
  • epilepsy
Tags
  • gene-checked
Green Green List (high evidence)
BMP4
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Microphthalmia, syndromic 6 607932
  • Global developmental delay
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
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2
Tags
Green Green List (high evidence)
BOLA3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, OMIM:614299
Tags
Green Green List (high evidence)
BOLA3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Disorders of iron homeostasis
  • Multiple mitochondrial dysfunctions syndrome 2, 614299
  • Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366)
  • Multiple Mitochondrial Dysfunctions Syndrome
Tags
Green Green List (high evidence)
BPTF
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755
  • intellectual disability
Tags
Green Green List (high evidence)
BRAF
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Melanoma, malignant, somaticColorectal cancer, somaticAdenocarcinoma of lung, somatic, 211980Nonsmall cell lung cancer, somaticCardiofaciocutaneous syndrome, 115150Noonan syndrome 7, 613706LEOPARD syndrome 3, 613707
  • NOONAN SYNDROME TYPE 7 (NS7)
Tags
Green Green List (high evidence)
BRAT1
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME
Tags
Green Green List (high evidence)
BRD4
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Intellectual disability
  • Microcephaly
  • Abnormal heart morphology
  • Abnormality of the face
Tags
  • gene-checked
Green Green List (high evidence)
BRF1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebellofaciodental syndrome, 616202
  • intellectual disability
Tags
Green Green List (high evidence)
BRPF1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies and ptosis 617333
Tags
Green Green List (high evidence)
BRSK2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Global developmental delay
  • Autism
  • Behavioral abnormality
  • Global developmental delay, Intellectual disability, Autism, Behavioral abnormality
  • Intellectual disability
Tags
  • gene-checked
Green Green List (high evidence)
BRWD3
3 reviews
3 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Mental Retardation, X-linked
  • Mental retardation, X-linked 93, 300659
  • MENTAL RETARDATION X-LINKED TYPE 93 (MRX93)
Tags
Green Green List (high evidence)
BSCL2
6 reviews
2 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924
  • Lipodystrophy, congenital generalized, type 2, OMIM:269700
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)
BTD
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Biotinidase deficiency, 253260
  • BIOTINIDASE DEFICIENCY
Tags
Green Green List (high evidence)
BTD
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Biotinidase deficiency, OMIM:253260
  • biotinidase deficiency, MONDO:0009665
Tags
  • Q3_23_expert_review
Green Green List (high evidence)
BUB1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Microcephaly 30, primary, autosomal recessive, OMIM:620183
Tags
Green Green List (high evidence)
BUB1B
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Colorectal cancer, somatic, 114500Mosaic variegated aneuploidy syndrome 1, 257300[Premature chromatid separation trait], 176430
  • MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
  • MVA1
Tags
Green Green List (high evidence)
C12orf4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Literature
Phenotypes
  • Autosomal recessive intellectual disability
Tags
Green Green List (high evidence)
C12orf57
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Temtamy syndrome, 218340
  • TEMTAMY SYNDROME
  • COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY
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)
C12orf65
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 7, OMIM:613559
  • Spastic paraplegia 55, autosomal recessive, OMIM:615035
Tags
  • new-gene-name
Green Green List (high evidence)
C12orf65
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Combined oxidative phosphorylation deficiency 7, OMIM:613559
  • Spastic paraplegia 55, autosomal recessive, OMIM:615035
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 37, 618329
Tags
  • new-gene-name
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
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 33, MIM#617713
Tags
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)
C2CD3
7 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Orofaciodigital syndrome XIV, 615948
  • Joubert-related disorder
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)
C2orf69
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 53, OMIM:619423
Tags
  • gene-checked
Green Green List (high evidence)
C2orf69
4 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)
C5orf42
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • JOUBERT SYNDROME
Tags
  • new-gene-name
Green Green List (high evidence)
CA2
5 reviews
4 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730
  • OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 (OPTB3)
  • carbonic anhydrase II deficiency
  • intellectual disability
Tags
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)
CA5A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyperammonemia due to carbonic anhydrase VA deficiency, 615751
Tags
Green Green List (high evidence)
CA8
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227
  • CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 (CMARQ3)
Tags
Green Green List (high evidence)
CACNA1A
6 reviews
2 green 2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Developemental and epileptic encephalopathy 42, OMIM:617106
  • developmental and epileptic encephalopathy, 42, MONDO:0014917
Tags
Green Green List (high evidence)
CACNA1B
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497
  • Progressive Epilepsy-Dyskinesia
  • Seizures
  • Abnormality of movement
  • Intellectual disability
  • Developmental regression
  • Global developmental delay
Tags
Green Green List (high evidence)
CACNA1C
6 reviews
2 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
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)
CACNA1D
5 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Primary aldosteronism, seizures, and neurologic abnormalities 615474 AD
  • Sinoatrial node dysfunction and deafness 614896 AR
Tags
Green Green List (high evidence)
CACNA1E
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • Expert Review
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Dystonia
  • Congenital contracture
  • Macrocephaly
  • Epileptic encephalopathy, early infantile, 69, 618285
Tags
Green Green List (high evidence)
CACNA1G
4 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 42 616795
  • Cerebellar atrophy, epilepsy, intellectual disability
Tags
Green Green List (high evidence)
CACNA1I
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with speech impairment and with or without seizures, OMIM:620114
Tags
Green Green List (high evidence)
CACNA2D1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
  • Literature
Phenotypes
  • Abnormal muscle tone
  • Feeding difficulties
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Microcephaly
  • Abnormality of the corpus callosum
  • Cerebral atrophy
  • Abnormality of movement
  • Cortical visual impairment
  • Pain insensitivity
Tags
Green Green List (high evidence)
CAD
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 50, OMIM:616457
Tags
Green Green List (high evidence)
CAMK2A
5 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Mental retardation, autosomal dominant 53, OMIM:617798
  • ?Mental retardation, autosomal recessive 63, OMIM:618095
Tags
  • watchlist_moi
Green Green List (high evidence)
CAMK2B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Mental retardation, autosomal dominant 54, OMIM:617799
Tags
Green Green List (high evidence)
CAMK4
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
  • Literature
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Autism
  • Behavioral abnormality
  • Abnormality of movement
  • Dystonia
  • Ataxia
  • Chorea
  • Myoclonus
Tags
  • gene-checked
Green Green List (high evidence)
CAMTA1
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
Tags
Green Green List (high evidence)
CAPN15
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318
Tags
Green Green List (high evidence)
CAPRIN1
8 reviews
3 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Global developmental delay
  • Delayed speech and language development
  • Intellectual disability
  • Autistic behaviour
  • Seizures
Tags
  • gene-checked
Green Green List (high evidence)
CARS
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Microcephaly, developmental delay, and brittle hair syndrome, OMIM:618891
Tags
  • new-gene-name
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)
CARS2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 27 616672
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • No OMIM phenotype
Tags
Green Green List (high evidence)
CASK
3 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
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749FG syndrome 4, 300422Mental retardation, with or without nystagmus, 300422
  • MENTAL RETARDATION X-LINKED CASK-RELATED (MRXCASK)
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)
CBL
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563
  • NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA
Tags
Green Green List (high evidence)
CBS
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Homocystinuria, B6-responsive and nonresponsive types, 236200
  • Thrombosis, hyperhomocysteinemic, 236200
  • CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (CBSD)
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)
CC2D1A
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 3, OMIM:608443
Tags
Green Green List (high evidence)
CC2D2A
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Joubert syndrome 9, 612285Meckel syndrome 6, 612284COACH syndrome, 216360
  • MECKEL SYNDROME, TYPE 6
  • MKS6
Tags
Green Green List (high evidence)
CCBE1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome, 235510
  • HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME (HLLS)
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)
CCDC22
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • SYNDROMIC X-LINKED INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
CCDC32
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Cardiofacioneurodevelopmental syndrome, OMIM:619123
  • cardiofacioneurodevelopmental syndrome, MONDO:0030873
Tags
  • gene-checked
Green Green List (high evidence)
CCDC47
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Woolly hair
  • Abnormality of the liver
  • Global developmental delay
  • Intellectual disability
  • Trichohepatoneurodevelopmental syndrome, 618268
Tags
  • gene-checked
Green Green List (high evidence)
CCDC82
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
  • gene-checked
Green Green List (high evidence)
CCDC88C
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • ?Spinocerebellar ataxia 40 616053 AD
  • Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR
Tags
Green Green List (high evidence)
CCND2
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME
Tags
Green Green List (high evidence)
CDC42
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Literature
Phenotypes
  • Takenouchi-Kosaki syndrome, 616737
  • Intellectual disability
Tags
Green Green List (high evidence)
CDC6
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MEIER-GORLIN SYNDROME 5
Tags
Green Green List (high evidence)
CDH11
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Elsahy-Waters syndrome, OMIM:211380
  • Teebi hypertelorism syndrome
Tags
Green Green List (high evidence)
CDH2
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929
  • Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065
Tags
Green Green List (high evidence)
CDK10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Al Kaissi syndrome, 617694
  • intellectual disability
Tags
Green Green List (high evidence)
CDK13
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Congenital heart defects, dysmorphic facial features, and intellectual development disorder 617360
Tags
Green Green List (high evidence)
CDK19
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 87 618916
Tags
Green Green List (high evidence)
CDK5RAP2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly 3, primary, autosomal recessive, 604804
  • PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY
Tags
Green Green List (high evidence)
CDK8
5 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder with hypotonia and behavioral abnormalities, OMIM:618748
Tags
Green Green List (high evidence)
CDKL5
3 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
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Epileptic encephalopathy, early infantile, 2, 300672Angelman syndrome-like, 105830
  • EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 (EIEE2)
Tags
Green Green List (high evidence)
CDON
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Holoprosencephaly 11, 614226
  • HOLOPROSENCEPHALY 11
Tags
Green Green List (high evidence)
CELF2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 97, OMIM:619561
Tags
Green Green List (high evidence)
CENPF
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Other
Phenotypes
  • Stromme syndrome 243605
  • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Tags
Green Green List (high evidence)
CENPJ
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly 6, primary, autosomal recessive, 608393Seckel syndrome 4, 613676
  • MICROCEPHALY PRIMARY TYPE 6 (MCPH6)
Tags
Green Green List (high evidence)
CEP104
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Joubert syndrome 25, 616781
Tags
Green Green List (high evidence)
CEP120
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 31 (617761)
  • Short-rib thoracic dysplasia 13 with or without polydactyly (616300)
Tags
Green Green List (high evidence)
CEP135
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly 8, primary, autosomal recessive, 614673
  • PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION
Tags
Green Green List (high evidence)
CEP152
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly 9, primary, autosomal recessive, 614852Seckel syndrome 5, 613823
  • MICROCEPHALY PRIMARY TYPE 4 (MCPH4)
Tags
Green Green List (high evidence)
CEP290
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Joubert syndrome 5, 610188Senior-Loken syndrome 6, 610189Leber congenital amaurosis 10, 611755Meckel syndrome 4, 611134Bardet-Biedl syndrome 14, 209900
  • BARDET-BIEDL SYNDROME TYPE 14 (BBS14)
Tags
Green Green List (high evidence)
CEP41
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Joubert syndrome 15, 614464
  • JOUBERT SYNDROME 15
Tags
Green Green List (high evidence)
CEP55
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • microcephaly, delayed development, and bilateral toe syndactyly
Tags
Green Green List (high evidence)
CEP57
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
Tags
Green Green List (high evidence)
CEP83
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
CEP85L
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lissencephaly 10, OMIM:618873
  • Lissencephaly 10, MONDO:0030031
Tags
  • gene-checked
Green Green List (high evidence)
CHAMP1
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, OMIM:616579
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)
CHCHD10
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
  • Spinal muscular atrophy, Jokela type
Tags
Green Green List (high evidence)
CHD2
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epileptic encephalopathy, childhood-onset, 615369
  • EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
CHD3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • Expert Review
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Macrocephaly
  • Snijders Blok-Campeau syndrome, 618205
Tags
Green Green List (high evidence)
CHD4
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Sifrim-Hitz-Weiss syndrome OMIM:617159
  • Sifrim-Hitz-Weiss syndrome MONDO:0014946
Tags
Green Green List (high evidence)
CHD5
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Parenti-Mignot neurodevelopmental syndrome, OMIM:610771
  • Intellectual disability, MONDO:0001071
  • Epilepsy, MONDO:0005027
Tags
Green Green List (high evidence)
CHD7
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • CHARGE syndrome, 214800{Scoliosis, idiopathic 3}, 608765Hypogonadotropic hypogonadism 5 with or without anosmia, 612370
  • KALLMANN SYNDROME TYPE 5 (KAL5)
Tags
Green Green List (high evidence)
CHD8
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Overgrowth with Intellectual disability
Tags
Green Green List (high evidence)
CHKA
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • 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)
CHKB
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Literature
Phenotypes
  • Muscular dystrophy, congenital, megaconial type, 602541
Tags
Green Green List (high evidence)
CHMP1A
5 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia, type 8 614961
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
5 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 45 617600
Tags
Green Green List (high evidence)
CIC
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
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)
CIT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Microcephaly 17, primary, autosomal recessive, 617090
Tags
Green Green List (high evidence)
CKAP2L
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION
Tags
Green Green List (high evidence)
CLCN2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with ataxia, OMIM:615651
Tags
Green Green List (high evidence)
CLCN3
3 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • 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
6 reviews
2 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
  • Expert Review Green
Phenotypes
  • Raynaud-Claes syndrome, OMIM:300114
Tags
Green Green List (high evidence)
CLDN11
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Leukodystrophy, hypomyelinating, 22, OMIM:619328
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
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Brain calcifications
Tags
  • gene-checked
Green Green List (high evidence)
CLDN5
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • intellectual disability, MONDO:0001071
Tags
  • gene-checked
Green Green List (high evidence)
CLN3
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 3, 204200
  • NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 (CLN3)
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)
CLN5
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
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)
CLN6
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6, 601780Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
  • CEROID LIPOFUSCINOSIS, NEURONAL, 6
Tags
Green Green List (high evidence)
CLN8
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 8, 600143Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003
  • NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 (CLN8)
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)
CLP1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia 10 OMIM:615803
  • Pontocerebellar hypoplasia type 10 MONDO:0014349
Tags
  • founder-effect
Green Green List (high evidence)
CLPB
6 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Victorian Clinical Genetics Services
  • 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)
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)
CLPB
4 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert list
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
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Perrault syndrome 3, 614129
Tags
Green Green List (high evidence)
CLPP
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Perrault syndrome 3, OMIM:614129
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
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Mental retardation, autosomal dominant 56, OMIM:617854
Tags
Green Green List (high evidence)
CNKSR2
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Emory Genetics Laboratory
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
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)
CNNM2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Hypomagnesemia, seizures, and mental retardation, OMIM:616418
  • Hypomagnesemia, seizures, and mental retardation, MONDO:0014631
Tags
Green Green List (high evidence)
CNOT1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Holoprosencephaly 12, with or without pancreatic agenesis, 618500
  • global developmental delay
Tags
Green Green List (high evidence)
CNOT2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, 618608
Tags
Green Green List (high evidence)
CNOT3
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • CNOT3 syndrome
  • intellectual disability, global developmental delay
  • Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672
Tags
Green Green List (high evidence)
CNTNAP1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypomyelinating neuropathy, congenital, 3, OMIM:618186
Tags
Green Green List (high evidence)
CNTNAP1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypomyelinating neuropathy, congenital, 3 618186
  • Lethal congenital contracture syndrome 7 616286
Tags
Green Green List (high evidence)
CNTNAP2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Cortical dysplasia-focal epilepsy syndrome, 610042{Autism susceptibility 15}, 612100Pitt-Hopkins like syndrome 1, 610042
  • CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME (CDFES)
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
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501
Tags
  • treatable
Green Green List (high evidence)
COA7
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
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)
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)
COA7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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)
COASY
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Neurodegeneration with brain iron accumulation 6, OMIM:615643
  • neurodegeneration with brain iron accumulation 6, MONDO:0014290
  • Pontocerebellar hypoplasia, type 12, OMIM:618266
  • pontocerebellar hypoplasia, type 12, MONDO:0032643
Tags
Green Green List (high evidence)
COG1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type IIg, 611209
  • COG1-CDG (CDG-IIG)
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
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IIj, 613489
  • COG4-CDG (CDG-IIJ)
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)
COG5
7 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type III, 613612
  • COG5-CDG
  • CDG-III
Tags
Green Green List (high evidence)
COG6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIl, 614576
  • Shaheen syndrome, 615328
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
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)
COG7
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type IIe, 608779
  • COG7-CDG (CDG-IIE)
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)
COG8
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type IIh, 611182
  • COG8-CDG (CDG-IIH)
Tags
Green Green List (high evidence)
COL4A1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Variable phenotype - porencephaly, destructive cerebral lesions, eye anomalies, intracerebral calcification
  • Porencephaly 1
Tags
Green Green List (high evidence)
COL4A1
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Porencephaly 1, 175780Brain small vessel disease with hemorrhage, 607595Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773Brain small vessel disease with Axenfeld-Rieger anomaly, 607595{Hemorrhage, intracerebral, susceptibility to}, 614519
  • PORENCEPHALY 1
Tags
Green Green List (high evidence)
COL4A2
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Porencephaly 2, 614483{Hemorrhage, intracerebral, susceptibility to}, 614519
  • PORENCEPHALY 2
Tags
Green Green List (high evidence)
COL4A3BP
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 34, OMIM:616351
Tags
  • new-gene-name
Green Green List (high evidence)
COLEC11
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 3MC syndrome 2, 265050
  • 3MC SYNDROME 2
Tags
Green Green List (high evidence)
COLGALT1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Brain small vessel disease 3, OMIM:618360
Tags
Green Green List (high evidence)
COPB2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • osteoporosis
  • developmental delay
Tags
Green Green List (high evidence)
COQ2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1, OMIM:607426
Tags
Green Green List (high evidence)
COQ2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Coenzyme Q10 deficiency, primary, 1, OMIM:607426
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)
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
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • COENZYME Q10 DEFICIENCY, PRIMARY, 7
Tags
Green Green List (high evidence)
COQ4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Tags
Green Green List (high evidence)
COQ6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Steroid-resistant nephrotic syndrome
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 6, 614650
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)
COQ7
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
  • Expert Review
Phenotypes
  • ?Coenzyme Q10 deficiency, primary, 8 616733
  • complex multisystem presentation
Tags
Green Green List (high evidence)
COQ8A
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 4, 612016
  • Coenzyme Q10 deficiency
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)
COQ8A
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Coenzyme Q10 deficiency, primary, 4, 612016
  • COENZYME Q10 DEFICIENCY
Tags
Green Green List (high evidence)
COQ8A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary 4, 612016
  • Spinocerebellar Ataxia Type
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)
COQ8B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert
Phenotypes
  • Nephrotic syndrome, type 9
Tags
Green Green List (high evidence)
COQ9
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 5, 614654
  • Coenzyme Q10 deficiency
Tags
  • watchlist
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)
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
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
COX10
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
Tags
Green Green List (high evidence)
COX10
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
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
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
  • Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
COX15
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
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)
COX15
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
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
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex IV deficiency
  • Mitochondrial complex IV deficiency, 220110
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)
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)
COX6A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Tags
Green Green List (high evidence)
COX6A2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062
Tags
Green Green List (high evidence)
COX6B1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051
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)
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
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex IV deficiency
  • Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887
  • MICROPHTHALMIA WITH LINEAR SKIN LESIONS
  • Linear skin defects with multiple congenital anomalies
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)
CPE
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326
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)
CPS1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Carbamoylphosphate synthetase I deficiency, 237300{Pulmonary hypertension, neonatal, susceptibility to}, 615371{Venoocclusive disease after bone marrow transplantation}
  • CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY (CPS1D)
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)
CRADD
4 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Mental retardation, autosomal recessive 34, with variant lissencephaly, OMIM:614499
Tags
Green Green List (high evidence)
CRB2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE
Tags
Green Green List (high evidence)
CREBBP
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Rubinstein-Taybi syndrome, 180849
  • RUBINSTEIN-TAYBI SYNDROME TYPE 1 (RSTS1)
Tags
Green Green List (high evidence)
CRLS1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 57, OMIM:620167
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)
CSDE1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autism
  • Global developmental delay
  • Intellectual disability
Tags
  • gene-checked
Green Green List (high evidence)
CSF1R
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820
  • Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476
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)
CSNK1G1
6 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • severe non-syndromic early-onset epilepsy
  • Global developmental delay
  • Intellectual disability
  • Autism
  • Seizures
  • Abnormality of the face
  • Abnormality of limbs
Tags
  • gene-checked
Green Green List (high evidence)
CSNK2A1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Other
Phenotypes
  • Okur-Chung neurodevelopmental syndrome, OMIM:617062
Tags
Green Green List (high evidence)
CSNK2B
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Literature
Phenotypes
  • Poirier-Bienvenu neurodevelopmental syndrome, OMIM:618732
  • Poirier-Bienvenu neurodevelopmental syndrome, MONDO:0032889
Tags
Green Green List (high evidence)
CSPP1
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY
Tags
Green Green List (high evidence)
CSTB
5 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
Tags
  • nucleotide-repeat-expansion
Green Green List (high evidence)
CTBP1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915
Tags
  • missense
Green Green List (high evidence)
CTC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Coats Plus syndrome
  • Cerebroretinal microangiopathy with calcifications and cysts, 612199
Tags
Green Green List (high evidence)
CTCF
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
CTDP1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital cataracts, facial dysmorphism, and neuropathy, 604168
  • CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME (CCFDN)
Tags
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
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 9, OMIM:618174
Tags
Green Green List (high evidence)
CTNNB1
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM:615075
Tags
Green Green List (high evidence)
CTNND1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • developmental delay
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)
CTR9
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Macrocephaly, HP:0000256
  • Motor delay, HP:0001270
  • intellectual disability, MONDO:0001071
  • Delayed speech and language development
  • Behavioral abnormality
  • Autistic behavior
  • Failure to thrive
  • Feeding difficulties
  • Abnormality of the cardiovascular system
Tags
  • gene-checked
Green Green List (high evidence)
CTSA
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Galactosialidosis, 256540
  • GALACTOSIALIDOSIS (GSL)
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
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)
CTSD
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 10, 610127
  • NEURONAL CEROID LIPOFUSCINOSIS TYPE 10 (CLN10)
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)
CTU2
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • DREAMā€PL syndrome
  • Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142
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
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with or without autism or seizures, OMIM:619239
Tags
Green Green List (high evidence)
CUL4B
3 reviews
3 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354
  • MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE (MRXC)
Tags
Green Green List (high evidence)
CUX1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Expert Review
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Global developmental delay with or without impaired intellectual development, 618330
Tags
Green Green List (high evidence)
CUX2
8 reviews
2 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 67, OMIM:618141
  • Seizures
  • Intellectual disability
  • Autistic behaviour
Tags
Green Green List (high evidence)
CWC27
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Literature
Phenotypes
  • Retinitis pigmentosa with or without skeletal anomalies, 250410
Tags
Green Green List (high evidence)
CWF19L1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 17, 616127
  • intellectual disability, developmental delay
Tags
Green Green List (high evidence)
CXorf56
6 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
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • ?Mental retardation, X-linked 107, 301013
Tags
  • gene-checked
  • new-gene-name
  • Skewed X-inactivation
Green Green List (high evidence)
CYB5R3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Methemoglobinemia, type I, 250800Methemoglobinemia, type II, 250800
  • METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE
Tags
Green Green List (high evidence)
CYC1
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
  • MC3DN6
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)
CYC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex III deficiency
  • Mitochondrial complex III deficiency, nuclear type 6, 615453
Tags
Green Green List (high evidence)
CYFIP2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 65, 618008
  • Epileptic encephalopathy, early infantile 65, 618008
Tags
Green Green List (high evidence)
CYP27A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Cerebrotendinous xanthomatosis, 213700
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)
CYP2U1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spastic paraplegia 56, autosomal recessive
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)
CYP7B1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spastic paraplegia 5A, autosomal recessive , OMIM:270800
Tags
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
6 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • D-2-hydroxyglutaric aciduria, 600721
Tags
Green Green List (high evidence)
D2HGDH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • L2-Hydroxyglutaric aciduria
Tags
Green Green List (high evidence)
DAG1
7 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Walker-Warburg syndrome
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 613818
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538
Tags
Green Green List (high evidence)
DARS
1 review
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)
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)
DARS
5 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • HYPOMYELINATION WITH BRAIN STEM 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)
DARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105
Tags
Green Green List (high evidence)
DARS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Tags
Green Green List (high evidence)
DARS2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105
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
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Maple syrup urine disease, type II, 248600
  • MAPLE SYRUP URINE DISEASEQ
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)
DCAF17
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Woodhouse-Sakati syndrome, OMIM:241080
Tags
Green Green List (high evidence)
DCAF17
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Woodhouse-Sakati syndrome, 241080
  • WOODHOUSE-SAKATI SYNDROME (WOSAS)
Tags
Green Green List (high evidence)
DCHS1
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Van Maldergem syndrome 1, OMIM:601390
Tags
Green Green List (high evidence)
DCPS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Literature
  • Expert Review
Phenotypes
  • Al-Raqad syndrome, 616459
  • Al-Raqad syndrome (OMIM 616459)
Tags
Green Green List (high evidence)
DCX
3 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
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
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)
DDB1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
Tags
Green Green List (high evidence)
DDB2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Xeroderma pigmentosum, group E, DDB-negative subtype, 278740
Tags
Green Green List (high evidence)
DDC
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
  • 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)
DDHD2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 54, autosomal recessive, 615033
  • COMPLEX HEREDITARY SPASTIC PARAPLEGIA
Tags
Green Green List (high evidence)
DDX11
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • WARSAW BREAKAGE SYNDROME (WBRS)
Tags
Green Green List (high evidence)
DDX23
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Global developmental delay with speech and behavioral abnormalities, MONDO:0030995
Tags
  • gene-checked
Green Green List (high evidence)
DDX3X
4 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
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958
Tags
Green Green List (high evidence)
DDX59
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review
  • Literature
Phenotypes
  • Orofaciodigital syndrome V, 174300
Tags
Green Green List (high evidence)
DDX6
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Generalized hypotonia
  • Global developmental delay
  • Intellectual disability
  • Unsteady gait
  • Abnormality of the cardiovascular system
  • Abnormality of the genitourinary system
  • Abnormality of limbs
Tags
Green Green List (high evidence)
DEAF1
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • ?Dyskinesia, seizures, and intellectual developmental disorder, 617171
  • Mental retardation, autosomal dominant 24, 615828
Tags
Green Green List (high evidence)
DEGS1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 18, OMIM:618404
Tags
Green Green List (high evidence)
DEGS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leukodystrophy hypomyelinating 18, MIM 618404)
  • developmental delay
Tags
Green Green List (high evidence)
DEPDC5
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Epilepsy, familial focal, with variable foci 1, OMIM:604364
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)
DGUOK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial DNA depletion syndrome 3
Tags
Green Green List (high evidence)
DGUOK
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
  • Mitochondrial DNA Depletion Syndrome
Tags
Green Green List (high evidence)
DHCR24
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Desmosterolosis, 602398
  • DESMOSTEROLOSIS
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)
DHCR7
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Smith-Lemli-Opitz syndrome, 270400
  • SMITH-LEMLI-OPITZ SYNDROME (SLOS)
Tags
Green Green List (high evidence)
DHDDS
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • 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)
DHFR
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
  • 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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Abnormality of head or neck
  • Seizures
  • Abnormal muscle tone, Global developmental delay, Intellectual disability, Seizures, EEG abnormality, Behavioral abnormality, Abnormality of head or neck
  • 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)
DHTKD1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 2-aminoadipic 2-oxoadipic aciduria, 204750
  • Charcot-Marie-Tooth disease, axonal, type 2Q, 615025
  • 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA
Tags
Green Green List (high evidence)
DHX30
5 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • microcephaly, developmental delay intellectual disability, mild cerebral volume loss, hypotonia, seizures, short stature, failure to thrive, and generalized hirsutism
Tags
Green Green List (high evidence)
DHX37
4 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731
Tags
  • Q1_24_MOI
  • Q1_24_NHS_review
Green Green List (high evidence)
DIAPH1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Seizures, cortical blindness, microcephaly syndrome, 616632
  • developmental delay
  • intellectual disability
Tags
Green Green List (high evidence)
DIS3L2
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Gene2Phenotype confirmed gene with ID HPO
Tags
  • deletions
  • non-coding-known-pathogenic
Green Green List (high evidence)
DKC1
4 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Dyskeratosis congenita, X-linked, 305000
  • DKC1-RELATED DYSKERATOSIS CONGENITA
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)
DLAT
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pyruvate dehydrogenase E2 deficiency, 245348
Tags
Green Green List (high evidence)
DLD
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dihydrolipoamide dehydrogenase deficiency, 246900
  • Leigh syndrome
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)
DLD
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dihydrolipoamide dehydrogenase deficiency, 246900
  • DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY
Tags
Green Green List (high evidence)
DLG3
3 reviews
3 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Mental retardation, X-linked 90, 300850
  • MENTAL RETARDATION X-LINKED TYPE 90 (MRX90)
Tags
Green Green List (high evidence)
DLG4
6 reviews
2 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Intellectual disability
  • Marfanoid habitus
  • Intellectual developmental disorder 62 #618793
Tags
  • microduplication
Green Green List (high evidence)
DLL1
4 reviews
3 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
5 reviews
3 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Duchenne muscular dystrophy, 310200Becker muscular dystrophy, 300376Cardiomyopathy, dilated, 3B, 302045
  • BECKER MUSCULAR DYSTROPHY (BMD)
Tags
  • gene-therapy-trial
  • 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)
DMPK_CTG
STR
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
Phenotypes
  • Myotonic dystrophy 1, OMIM:160900
Tags
  • STR
Green Green List (high evidence)
DMPK_CTG
STR
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Myotonic dystrophy 1, OMIM:160900
Tags
  • STR
Green Green List (high evidence)
DMXL2
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Sensorineural Hearing Loss
  • ORPHA90636
  • Epileptic encephalopathy, early infantile, 81, 618663
  • ?Polyendocrine-polyneuropathy syndrome, 616113
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)
DNA2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6
  • 615156
Tags
Green Green List (high evidence)
DNAJC12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Other
Phenotypes
  • Hyperphenylalaninemia, mild, non-BH4-deficient, 617384
  • Hyperphenylalaninemia, Dystonia, and Intellectual Disability
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
4 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 3-methylglutaconic aciduria, type V, 610198
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
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Disorders of the mitochondrial import system
  • 3-methylglutaconic aciduria, type V, 610198
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)
DNM1
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 31, OMIM:616346
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)
DNM1L
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388
Tags
Green Green List (high evidence)
DNM1L
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388
Tags
Green Green List (high evidence)
DNM2
4 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
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)
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)
DNMT3A
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Tatton-Brown-Rahman syndrome OMIM:615879
  • Heyn-Sproul-Jackson syndrome OMIM:618724
  • MONDO:0032882
Tags
Green Green List (high evidence)
DNMT3B
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860
  • IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
Tags
Green Green List (high evidence)
DOCK3
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Literature
Phenotypes
  • Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia OMIM:618292
  • neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:0032661
Tags
Green Green List (high evidence)
DOCK6
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Adams-Oliver syndrome 2, 614219
  • intellectual disability, developmental delay
Tags
Green Green List (high evidence)
DOCK7
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
  • EIEE23
Tags
Green Green List (high evidence)
DOHH
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066
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
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • CONGENITAL DISORDERS OF GLYCOSYLATION
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
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type Ij, 608093Myasthenic syndrome, congenital, with tubular aggregates 2, 614750
  • MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2
Tags
Green Green List (high evidence)
DPF2
5 reviews
2 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Coffin-Siris syndrome 7, 618027
  • intellectual disability
Tags
  • dominant-negative
Green Green List (high evidence)
DPH1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review
  • Literature
Phenotypes
  • Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901
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
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type Ie, OMIM:608799
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)
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)
DPM2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Literature
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)
DPP6
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • autosomal dominant microcephaly and mental retardation
  • Mental retardation, autosomal dominant 33, 616311
Tags
  • deletions
  • Q4_23_demote_red
  • Q4_23_expert_review
  • Q4_23_NHS_review
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)
DPYD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dihydropyrimidine dehydrogenase deficiency
  • 5-fluorouracil toxicity 274270
Tags
Green Green List (high evidence)
DPYD
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dihydropyrimidine dehydrogenase deficiency, 2742705-fluorouracil toxicity, 274270
Tags
  • pharmacogenetics
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)
DPYS
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Dihydropyrimidinuria, OMIM:222748
Tags
Green Green List (high evidence)
DPYSL5
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Tags
Green Green List (high evidence)
DTYMK
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Microcephaly
  • Seizures
  • Global brain atrophy
  • Cardiorespiratory arrest
Tags
Green Green List (high evidence)
DYM
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dyggve-Melchior-Clausen disease, 223800Smith-McCort dysplasia, 607326
  • SMITH-MCCORT DYSPLASIA (SMC)
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
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Mental Retardation, Dominant
  • Charcot-Marie-Tooth disease, axonal, type 20, 614228
  • Mental retardation, autosomal dominant 13, 614563
  • Spinal muscular atrophy, lower extremity-predominant, AD, 158600
  • SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD
Tags
Green Green List (high evidence)
DYRK1A
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, autosomal dominant 7, 614104
  • MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7
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)
EARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)
  • Combined oxidative phosphorylation deficiency 12
Tags
Green Green List (high evidence)
EARS2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 12, MIM#614924
Tags
Green Green List (high evidence)
EARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 12, 614924
Tags
Green Green List (high evidence)
EBF3
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Hypotonia, ataxia, and delayed development syndrome OMIM:617330
  • hypotonia, ataxia, and delayed development syndrome MONDO:0015021
Tags
Green Green List (high evidence)
EBP
5 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
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • CHONDRODYSPLASIA PUNCTATA 2, X-LINKED
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)
ECHS1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277
Tags
Green Green List (high evidence)
EDEM3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type 2V, OMIM:619493
Tags
Green Green List (high evidence)
EED
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Literature
Phenotypes
  • Cohen-Gibson syndrome, 617561
  • Human overgrowth syndrome type
  • Overgrowth with Intellectual disability
Tags
Green Green List (high evidence)
EEF1A2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • INFANTILE EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
EFTUD2
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mandibulofacial dysostosis, Guion-Almeida type, 610536
  • MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY
  • MFDM
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
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Kleefstra syndrome, 610253
  • 9Q SUBTELOMERIC DELETION SYNDROME (9Q- SYNDROME)
Tags
Green Green List (high evidence)
EIF2AK2
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, OMIM:618877
Tags
  • missense
Green Green List (high evidence)
EIF2AK3
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Wolcott-Rallison syndrome, 226980
  • WOLCOTT-RALLISON SYNDROME (WRS)
Tags
Green Green List (high evidence)
EIF2B1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
  • Childhood Ataxia with Central Nervous System Hypomyelination
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • eIF2B related disorder (Vanishing WM Disease or CACH)
Tags
Green Green List (high evidence)
EIF2B2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
  • Childhood Ataxia with Central Nervous System Hypomyelination
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • eIF2B related disorder (Vanishing WM Disease or CACH)
  • Ovarioleukodystrophy, 603896
Tags
Green Green List (high evidence)
EIF2B3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Leukoencephalopathy with vanishing white matter 603896
  • eIF2B related disorder (Vanishing WM Disease or CACH)
Tags
Green Green List (high evidence)
EIF2B4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ovarioleukodystrophy, 603896
  • Leukoencephaly with vanishing white matter, 603896
Tags
Green Green List (high evidence)
EIF2B5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
  • Ovarioleukodystrophy, 603896
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • eIF2B related disorder (Vanishing WM Disease or CACH)
Tags
Green Green List (high evidence)
EIF2S3
4 reviews
1 green 2 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked, syndromic, Borck type, 300987
Tags
Green Green List (high evidence)
EIF3F
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Mental retardation, autosomal recessive 67, OMIM:618295
Tags
Green Green List (high evidence)
EIF4A3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Robin sequence with cleft mandible and limb anomalies, 268305
  • Richieri-Costa-Pereira syndrome
  • intellectual disability
Tags
  • nucleotide-repeat-expansion
Green Green List (high evidence)
EIF5A
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Faundes-Banka syndrome, OMIM:619376
Tags
Green Green List (high evidence)
ELAC2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 17, 615440
  • infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency
Tags
Green Green List (high evidence)
ELAC2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY
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)
ELOVL1
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527
Tags
  • missense
Green Green List (high evidence)
ELOVL4
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stargardt disease 3, 600110Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110Ichthyosis, spastic quadriplegia, and mental retardation, 614457
  • ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
Tags
Green Green List (high evidence)
ELP2
4 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Mental retardation, autosomal recessive 58 617270
Tags
Green Green List (high evidence)
EMC1
6 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
  • Literature
  • Expert Review
Phenotypes
  • Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875
Tags
Green Green List (high evidence)
EMC10
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264
Tags
Green Green List (high evidence)
EML1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Band heterotopia, OMIM:600348
Tags
Green Green List (high evidence)
EMX2
4 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Schizencephaly 269160
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
6 reviews
3 green 3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spastic paraplegia 64, autosomal recessive, OMIM:615683
Tags
Green Green List (high evidence)
ENTPD1
2 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)
EP300
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • RUBINSTEIN-TAYBI SYNDROME TYPE 2 (RSTS2)
Tags
Green Green List (high evidence)
EPG5
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 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)
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)
EPRS
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 15, MIM# 617951
Tags
  • new-gene-name
Green Green List (high evidence)
ERBB4
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • intellectual disability MONDO:0001071
Tags
Green Green List (high evidence)
ERCC1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • FANCONI ANEMIA
Tags
Green Green List (high evidence)
ERCC2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Xeroderma pigmentosum, group D, 278730Trichothiodystrophy, 601675Cerebrooculofacioskeletal syndrome 2, 610756
  • CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 (COFS2)
Tags
Green Green List (high evidence)
ERCC3
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Xeroderma pigmentosum, group B, 610651Trichothiodystrophy, 601675
  • XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B (XP-B)
Tags
Green Green List (high evidence)
ERCC5
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Xeroderma pigmentosum, group G, 278780Xeroderma pigmentosum, group G/Cockayne syndrome, 278780
  • XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G (XP-G)
Tags
Green Green List (high evidence)
ERCC6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • De Sanctis-Cacchione syndrome
  • PMID: 26204423
  • Cockayne syndrome
  • UV-sensitive syndrome
  • Cockayne syndrome phenotype and UV-sensitive syndrome
  • Cockayne syndrome B
  • UV-sensitive syndrome 1
  • Intercranial Calcifications
  • Cockayne syndrome, type B
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
Tags
Green Green List (high evidence)
ERCC6
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • De Sanctis-Cacchione syndrome, OMIM:278800
Tags
Green Green List (high evidence)
ERCC6L2
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Bone marrow failure syndrome 2, 615715
Tags
Green Green List (high evidence)
ERCC8
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cockayne syndrome, type A, 216400UV-sensitive syndrome 2, 614621
  • COCKAYNE SYNDROME TYPE A (CSA)
Tags
Green Green List (high evidence)
ERCC8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • PMID: 26204423
  • UV-sensitive syndrome
  • Cockayne syndrome phenotype and UV-sensitive syndrome
  • Cockayne syndrome, type A
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Cockayne Syndrome
Tags
Green Green List (high evidence)
ERLIN2
5 reviews
2 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 18, autosomal recessive, 611225
  • intellectual disability
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
Green Green List (high evidence)
ESCO2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Roberts syndrome, 268300SC phocomelia syndrome, 269000
  • SC PHOCOMELIA SYNDROME (SCPS)
Tags
Green Green List (high evidence)
ETFA
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glutaric acidemia IIA, OMIM:231680
  • multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
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)
ETFB
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glutaric acidemia IIB, OMIM:231680
  • multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Tags
Green Green List (high evidence)
ETFDH
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • GLUTARIC ACIDURIA TYPE 2C
Tags
Green Green List (high evidence)
ETFDH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glutaric Acidemia IIC
  • Mitochondrial Leukoencephalopathy
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)
ETFDH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Disorders of ubiquinone metabolism and biosynthesis
  • GLUTARIC ACIDURIA TYPE 2C
  • Glutaric acidemia IIC
Tags
Green Green List (high evidence)
ETHE1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex IV deficiency
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Ethylmalonic encephalopathy, 602473
  • Ethylmalonic encephalopathy
Tags
Green Green List (high evidence)
ETHE1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ethylmalonic encephalopathy, 602473
  • ETHYLMALONIC ENCEPHALOPATHY
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
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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
6 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Seizures, scoliosis, and macrocephaly syndrome, 616682
  • autosomal recessive EXT2-related syndrome
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)
EXTL3
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425
Tags
Green Green List (high evidence)
EZH2
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • WEAVER SYNDROME 2
Tags
Green Green List (high evidence)
FA2H
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spastic paraplegia 35, autosomal recessive OMIM:612319
  • hereditary spastic paraplegia 35 MONDO:0012866
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)
FAM111A
6 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • KENNY-CAFFEY SYNDROME (KCS [MIM 127000])
Tags
  • Q4_23_demote_red
  • Q4_23_expert_review
  • Q4_23_NHS_review
Green Green List (high evidence)
FAM126A
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leukodystrophy, hypomyelinating, 5, 610532
  • LEUKODYSTROPHY HYPOMYELINATING TYPE 5 (HLD5)
Tags
  • new-gene-name
Green Green List (high evidence)
FAM126A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypomyelination and Congenital Cataract
  • Leukodystrophy, hypomyelinating, 5, 610532
Tags
  • new-gene-name
Green Green List (high evidence)
FAM20C
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • RAINE SYNDROME
Tags
Green Green List (high evidence)
FAM50A
3 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mental retardation syndrome, X-linked, Armfield type, OMIM:300261
  • Armfield syndrome, MONDO:0010284
Tags
Green Green List (high evidence)
FAR1
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Tags
  • to_be_confirmed_NHSE
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
  • Expert Review
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Spastic paraplegia 77, autosomal recessive, 617046
  • Combined oxidative phosphorylation deficiency 14, 614946
Tags
Green Green List (high evidence)
FARS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 14, 614946
Tags
Green Green List (high evidence)
FARSA
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013
Tags
Green Green List (high evidence)
FARSA
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • ?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013
Tags
Green Green List (high evidence)
FASTKD2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Combined oxidative phosphorylation deficiency 44, OMIM:618855
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)
FAT4
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • PERIVENTRICULAR NEURONAL HETEROTOPIA
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)
FBRSL1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • Microcephaly
  • Heart defect
  • Cleft palate
  • Contractures
  • Hearing impairment
  • Skin creases
Tags
  • gene-checked
Green Green List (high evidence)
FBXL3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review
  • Literature
Phenotypes
  • Short stature
  • Intellectual developmental disorder with short stature, facial anomalies, and speech defects, 606220
  • Intellectual disability
Tags
Green Green List (high evidence)
FBXL4
6 reviews
1 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
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
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471
  • mitochondrial DNA depletion syndrome 13 MONDO:0014198
Tags
Green Green List (high evidence)
FBXO11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • 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
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 100, OMIM:619777
  • developmental and epileptic encephalopathy 100, MONDO:0030695
Tags
Green Green List (high evidence)
FBXO31
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ?Mental retardation, autosomal recessive 45, OMIM:615979
  • Intellectual disability, autosomal dominant
Tags
Green Green List (high evidence)
FBXW11
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914
  • neurodevelopmental, jaw, eye, and digital syndrome, MONDO:003005
Tags
Green Green List (high evidence)
FBXW7
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Developmental delay, hypotonia, and impaired language, OMIM:620012
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
  • Radboud University Medical Center, Nijmegen
  • Expert
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)
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)
FDXR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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)
FGD1
3 reviews
3 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Aarskog-Scott syndrome, 305400Mental retardation, X-linked syndromic 16, 305400
  • AARSKOG-SCOTT SYNDROME (AAS)
Tags
Green Green List (high evidence)
FGF12
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Epileptic encephalopathy, early infantile, 47, 617166
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)
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)
FH
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fumarase deficiency, OMIM:606812
Tags
Green Green List (high evidence)
FH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fumarase deficiency, OMIM:606812
Tags
Green Green List (high evidence)
FIG4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Charcot-Marie-Tooth disease, type 4J, OMIM:611228
  • Yunis-Varon syndrome, OMIM:216340
  • leukoencephalopathy, HP:0002352
Tags
Green Green List (high evidence)
FIG4
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease, type 4J, OMIM:611228
  • Charcot-Marie-Tooth disease type 4J MONDO:0012640
  • Yunis Varon syndrome OMIM:216340
  • Yunis-Varon syndrome MONDO:0008995
Tags
Green Green List (high evidence)
FILIP1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • intellectual disability, MONDO:0001071
Tags
  • gene-checked
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)
FKRP
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5,606612Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C5 (MDDGC5)
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)
FKTN
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152Cardiomyopathy, dilated, 1X, 611615Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4 (MDDGB4)
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)
FLAD1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert list
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Multiple acyl-CoA dehydrogenase deficiencies (MADDs)
Tags
Green Green List (high evidence)
FLVCR2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790
Tags
Green Green List (high evidence)
FLVCR2
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME
Tags
Green Green List (high evidence)
FMN2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • NONSYNDROMIC AUTOSOMAL-RECESSIVE INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
FMO3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal