PanelApp
  1. Panels
  2. Paediatric disorders
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 ‘R14 Acutely unwell children with a likely monogenic disorder’ & clinical indication ‘R27 Congenital malformation and dysmorphism syndromes – microarray and sequencing’ 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 ‘R14 Acutely unwell children with a likely monogenic disorder’ & ‘R27 Congenital malformation and dysmorphism syndromes – microarray and sequencing’.

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 version number. 

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

The content of this panel (version 14.43: https://panelapp.genomicsengland.co.uk/api/v1/panels/486/?version=14.43) was signed off under NHS Genomic Medicine Service governance on (04/03/2020). 

This comprised of:
-Intellectual disability version 3.2 (https://panelapp.genomicsengland.co.uk/api/v1/panels/285/?version=3.2)
-DDG2P version 2.2 (https://panelapp.genomicsengland.co.uk/api/v1/panels/484/?version=2.2)
-Clefting version 2.2 (https://panelapp.genomicsengland.co.uk/api/v1/panels/81/?version=2.2)
-Limb disorders version 2.2 (https://panelapp.genomicsengland.co.uk/api/v1/panels/384/?version=2.2)
-Inborn errors of metabolism version 2.3 (https://panelapp.genomicsengland.co.uk/api/v1/panels/467/?version=2.3)
-Skeletal dysplasia version 2.2 (https://panelapp.genomicsengland.co.uk/api/v1/panels/309/?version=2.2)
-Skeletal ciliopathies version 1.2 (https://panelapp.genomicsengland.co.uk/api/v1/panels/726/?version=1.2)
-Renal ciliopathies version 1.2 (https://panelapp.genomicsengland.co.uk/api/v1/panels/725/?version=1.2)
-Neurological ciliopathies version 1.5 (https://panelapp.genomicsengland.co.uk/api/v1/panels/724/?version=1.5)
-Paediatric disorders - additional genes version 1.1 (https://panelapp.genomicsengland.co.uk/api/v1/panels/479/?version=1.1)
-Ophthalmological ciliopathies version 1.3 (https://panelapp.genomicsengland.co.uk/api/v1/panels/722/?version=1.3)

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

7017 Entities

6700 reviewed, 4192 green

List Entity Reviews Mode of inheritance Details
7017 Entitiess
Green Green List (high evidence)
AAAS
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME 231550
Tags
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)
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
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
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)
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
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ABCB11-RELATED INTRAHEPATIC CHOLESTASIS 601847
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
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ANEMIA, SIDEROBLASTIC, WITH ATAXIA 301310
Tags
Green Green List (high evidence)
ABCC6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 614473
Tags
Green Green List (high evidence)
ABCC9
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome)
  • Hypertrichotic osteochondrodysplasia 239850
Tags
Green Green List (high evidence)
ABCC9
7 reviews
2 green 2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, dilated, 10, 608569
  • Atrial fibrillation, familial, 12, 614050
  • Hypertrichotic osteochondrodysplasia, 239850
  • CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
Tags
  • watchlist_moi
Green Green List (high evidence)
ABCC9
3 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA 239850
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)
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
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • ADRENOLEUKODYSTROPHY, X-LINKED 300100
Tags
Green Green List (high evidence)
ABCD4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblJ type
Tags
Green Green List (high evidence)
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
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)
ABHD5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHANARIN-DORFMAN SYNDROME 275630
Tags
Green Green List (high evidence)
ABL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital heart defects and skeletal malformations syndrome 617602
Tags
  • missense
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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY 611126
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)
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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201450
Tags
Green Green List (high evidence)
ACADM
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of
  • Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
Tags
Green Green List (high evidence)
ACADS
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY 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)
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)
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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201475
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)
ACAN
4 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800
  • Spondyloepimetaphyseal dysplasia, aggrecan type 61283
  • Spondyloepiphyseal dysplasia, Kimberley type 608361
Tags
Green Green List (high evidence)
ACAN
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE 612813
  • SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY 608361
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)
ACAT1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALPHA-METHYLACETOACETIC ACIDURIA 203750
Tags
Green Green List (high evidence)
ACE
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • CAKUT
  • Renal Tubular Dysgenesis
Tags
Green Green List (high evidence)
ACO2
4 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Infantile cerebellar-retinal degeneration, OMIM:614559
  • Infantile cerebellar-retinal degeneration, MONDO:0013802
Tags
  • Q2_22_MOI
Green Green List (high evidence)
ACO2
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Infantile cerebellar-retinal degeneration, 614559
Tags
  • Q2_22_MOI
Green Green List (high evidence)
ACOX1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ADRENOLEUKODYSTROPHY PSEUDONEONATAL 264470
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
3 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, 264470
  • ADRENOLEUKODYSTROPHY PSEUDONEONATAL (PSEUDO-NALD)
Tags
Green Green List (high evidence)
ACP5
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Spondyloenchondrodysplasia with immune dysregulation 607944
Tags
Green Green List (high evidence)
ACP5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 607944
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)
ACTA2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • AORTIC ANEURYSM, FAMILIAL THORACIC 6 611788
  • MOYAMOYA DISEASE 5 614042
Tags
Green Green List (high evidence)
ACTB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • BARAITSER-WINTER SYNDROME 1
  • BRWS1
Tags
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)
ACTB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • BARAITSER-WINTER SYNDROME
  • ACTB Haploinsufficiency syndtome
Tags
  • watchlist
Green Green List (high evidence)
ACTC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Atrial septal defect 5
  • Cardiomyopathy, hypertrophic, 11
  • Cardiomyopathy, dilated, 1R
  • Left ventricular noncompaction 4
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)
ACTG1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • BARAITSER-WINTER SYNDROME 2
  • BRWS2
Tags
Green Green List (high evidence)
ACTG1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARAITSER-WINTER SYNDROME
Tags
Green Green List (high evidence)
ACTG2
3 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • CAKUT
  • Megacystis-microcolon intestinal hypoperistalsis syndrome
  • Visceral myopathy, 155310
  • Berdon 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)
ACTL6B
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468
  • INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470
Tags
  • watchlist
Green Green List (high evidence)
ACVR1
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Fibrodysplasia ossificans progressiva 135100
Tags
Green Green List (high evidence)
ACVR2B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751
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)
ACY1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AMINOACYLASE-1 DEFICIENCY 609924
Tags
Green Green List (high evidence)
ACY1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Intellectual disability
  • Aminoacylase 1 deficiency (Organic acidurias)
Tags
Green Green List (high evidence)
ADA
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)
ADA
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ADENOSINE DEAMINASE DEFICIENCY 102700
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)
ADAMTS10
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Weill-Marchesani syndrome 1, recessive, 277600
Tags
Green Green List (high evidence)
ADAMTS17
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Weill-Marchesani syndrome type 4
Tags
Green Green List (high evidence)
ADAMTSL2
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Geleophysic dysplasia 1 231050
Tags
Green Green List (high evidence)
ADAR
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE 615010
  • DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 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
Tags
Green Green List (high evidence)
ADAR
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
  • Dyschromatosis symmetrica hereditaria, 127400Aicardi-Goutieres syndrome 6, 615010
  • DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1
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)
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)
ADGRG1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • POLYMICROGYRIA 606854
Tags
Green Green List (high evidence)
ADGRG6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LETHAL CONGENITAL CONTRACTURE SYNDROME 9 616503
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)
ADNP
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28 615873
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)
ADSL
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ADENYLOSUCCINASE DEFICIENCY 103050
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)
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)
AFF2
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FRAGILE X-E MENTAL RETARDATION SYNDROME 309548
Tags
Green Green List (high evidence)
AFF4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CORNELIA DE LANGE-LIKE SYNDROME
Tags
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)
AGA
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ASPARTYLGLUCOSAMINURIA 208400
Tags
Green Green List (high evidence)
AGA
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
Phenotypes
  • Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short)
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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SENGERS SYNDROME 212350
Tags
Green Green List (high evidence)
AGL
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLYCOGEN STORAGE DISEASE TYPE III 232400
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
  • Generalized hypotonia
  • Global developmental delay
  • Intellectual disability
  • Autism
Tags
  • gene-checked
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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 600121
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)
AGPS
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Foundation Trust) Rhizomelic chondrodysplasia punctata, type 3 600121
  • Rhizomelic chondrodysplasia punctata, type 3 600121
Tags
Green Green List (high evidence)
AGT
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Renal tubular dysgenesis, 267430
  • CAKUT
Tags
Green Green List (high evidence)
AGTR1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • CAKUT
  • Hypertension, essential, 145500
  • Renal Tubular Dysgenesis
  • Renal tubular dysgenesis, 267430
Tags
Green Green List (high evidence)
AGXT
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • HYPEROXALURIA, PRIMARY, TYPE 1 259900
Tags
Green Green List (high evidence)
AGXT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Primary hyperoxaluria type I (Other peroxisomal disorders)
  • Primary hyperoxaluria type I (Disorders of glyoxylate metabolism)
  • Hyperoxaluria, primary, type 1
Tags
Green Green List (high evidence)
AHCY
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752
  • Disorders of the metabolism of sulphur amino acids
Tags
  • treatable
Green Green List (high evidence)
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)
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)
AHDC1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • XIA-GIBBS SYNDROME 615829
Tags
Green Green List (high evidence)
AHI1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JOUBERT SYNDROME 614615
Tags
Green Green List (high evidence)
AHI1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 3
  • Joubert syndrome
  • Joubert syndrome-3.
Tags
Green Green List (high evidence)
AHI1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Other
Phenotypes
  • Joubert syndrome 3
  • Joubert syndrome
  • Joubert syndrome-3.
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)
AHI1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Other
Phenotypes
  • Joubert syndrome 3
  • Joubert syndrome
  • Joubert syndrome-3.
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
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Disorders of mitochondrial apoptosis
  • Cowchock syndrome, 310490
  • Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Combined oxidative phosphorylation deficiency 6, 300816
Tags
Green Green List (high evidence)
AIMP1
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)
AIPL1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEBER CONGENITAL AMAUROSIS 4 604393
Tags
Green Green List (high evidence)
AIRE
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 240300
Tags
Green Green List (high evidence)
AK2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RETICULAR DYSGENESIS 267500
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)
AKR1D1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 235555
Tags
Green Green List (high evidence)
AKT1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PROTEUS SYNDROME 176920
Tags
  • mosaicism
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, 603387
  • HEMIMEGALENCEPHALY AKT3
Tags
  • mosaicism
Green Green List (high evidence)
ALAD
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • ACUTE HEPATIC PORPHYRIA 612740
Tags
Green Green List (high evidence)
ALAD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • {Lead poisoning, susceptibility to} 612740
  • Acute hepatic porphyria (Acute neuropathic porphyrias)
  • Porphyria, acute hepatic 612740
Tags
Green Green List (high evidence)
ALAS2
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert list
  • London North GLH
  • NHS GMS
Phenotypes
  • 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
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT 601162
  • CUTIS LAXA, AUTOSOMAL DOMINANT 3 616603
  • MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES 612652
Tags
Green Green List (high evidence)
ALDH18A1
1 review
1 green 		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
  • Q3_21_MOI
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)
ALDH1A3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ANOPHTHALMIA/MICROPHTHALMIA
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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SJOEGREN-LARSSON SYNDROME 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
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPERPROLINEMIA TYPE 2 239510
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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY 271980
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)
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)
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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PYRIDOXINE-DEPENDENT EPILEPSY 266100
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
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLYCOGEN STORAGE DISEASE XII 611881
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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • HEREDITARY FRUCTOSE INTOLERANCE 229600
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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALG1-CDG 300141
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
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)
ALG11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ALG11-CDG (Disorders of protein N-glycosylation)
  • Congenital disorder of glycosylation, type Ip 613661
Tags
Green Green List (high evidence)
ALG12
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G 607143
Tags
Green Green List (high evidence)
ALG12
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ig 607143
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)
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)
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
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Id 601110
Tags
Green Green List (high evidence)
ALG3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALG3-CDG 237128
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
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)
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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALG6-CDG 237124
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
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ih OMIM:608104
  • ALG8-CDG MONDO:0011969
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
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Gillessen-Kaesbach-Nishimura syndrome 263210
  • 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)
ALMS1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALSTROM SYNDROME 203800
Tags
Green Green List (high evidence)
ALMS1
4 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Eligibility statement prior genetic testing
  • UKGTN
  • Expert list
Phenotypes
  • Alstrom Syndrome
  • Bardet-Biedl Syndrome
  • 203800
  • Alstrom syndrome
Tags
Green Green List (high evidence)
ALMS1
6 reviews
3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Eligibility statement prior genetic testing
  • UKGTN
  • Expert list
Phenotypes
  • Bardet-Biedl Syndrome
  • Alstrom syndrome, OMIM:203800
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)
ALPL
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPOPHOSPHATASIA 241500
Tags
Green Green List (high evidence)
ALPL
4 reviews
3 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • hypophosphatasia
  • skeletal dysplasias
  • skeletal dysplasias
  • Osteogenesis Imperfecta and Decreased Bone Density
Tags
Green Green List (high evidence)
ALS2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALS2-RELATED DISORDERS 240656
Tags
Green Green List (high evidence)
ALX1
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Frontonasal dysplasia type 3 613456
  • Frontonasal dysplasia 3 613456
Tags
Green Green List (high evidence)
ALX1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FRONTONASAL DYSPLASIA TYPE 3 136760
Tags
Green Green List (high evidence)
ALX3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FRONTONASAL DYSPLASIA TYPE 1 136760
Tags
Green Green List (high evidence)
ALX3
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Frontonasal dysplasia 1 136760 (frontorhiny)
  • Frontonasal dysplasia 1 136760
Tags
Green Green List (high evidence)
ALX4
4 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Frontonasal dysplasia 2 613451
Tags
Green Green List (high evidence)
ALX4
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PARIETAL FORAMINA 2 609597
  • FRONTONASAL DYSPLASIA 2 613451
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
2 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Osteopathia striata with cranial sclerosis 300373
  • Osteopathia striata with cranial sclerosis 300373
Tags
Green Green List (high evidence)
AMER1
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS 300373
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)
AMER1
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
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
  • OSCS
  • Cleft palate
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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PONTOCEREBELLAR HYPOPLASIA
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)
AMT
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GLYCINE ENCEPHALOPATHY 605899
Tags
Green Green List (high evidence)
ANAPC1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Rothmund-Thomson Syndrome Type 1
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)
ANKH
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Chondrocalcinosis 2 118600
  • Craniometaphyseal dysplasia 123000
Tags
Green Green List (high evidence)
ANKH
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHONDROCALCINOSIS 2 118600
  • CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE 123000
Tags
Green Green List (high evidence)
ANKRD11
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • KBG SYNDROME 148050
Tags
Green Green List (high evidence)
ANKRD11
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • KBG syndrome 148050
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)
ANKRD11
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • KBG syndrome,148050 (orofacial clefting, intellectual disability, dental anomalies, dysmorphism)
  • Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
  • Orofacial Clefting with skeletal features
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)
ANKS6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
  • Nephronophthisis 16, 615382
  • Nephronophthisis
Tags
Green Green List (high evidence)
ANO10
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 10, 613728
Tags
Green Green List (high evidence)
ANO5
5 reviews
4 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Gnathodiaphyseal dysplasia OMIM:166260
  • gnathodiaphyseal dysplasia MONDO:0008151
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
  • skeletal dysplasias
  • Disproportionate Short Stature
Tags
  • Q1_22_MOI
Green Green List (high evidence)
ANO5
2 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • GNATHODIAPHYSEAL DYSPLASIA 166260
  • LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L 611307
  • MIYOSHI MUSCULAR DYSTROPHY TYPE 3 613319
Tags
  • watchlist
Green Green List (high evidence)
ANOS1
3 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Other
Phenotypes
  • CAKUT
  • Kallman syndrome
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700
Tags
Green Green List (high evidence)
ANTXR1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GAPO syndrome, OMIM:230740
Tags
Green Green List (high evidence)
ANTXR2
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyaline fibromatosis syndrome 228600
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
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
  • Emory Genetics Laboratory
Phenotypes
  • Pettigrew syndrome, OMIM:304340
Tags
  • Q4_21_MOI
Green Green List (high evidence)
AP1S2
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 59 300630
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)
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)
AP4E1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4 613744
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
1 review
1 green 		BOTH monoallelic and biallelic, 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
  • Q3_21_MOI
Green Green List (high evidence)
APOB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
  • Q4_21_MOI
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
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
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)
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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATAXIA WITH OCULOMOTOR APRAXIA 1 208920
Tags
Green Green List (high evidence)
AR
2 reviews
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • ANDROGEN INSENSITIVITY SYNDROME 300068
  • SPINAL AND BULBAR MUSCULAR ATROPHY 313200
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)
ARCN1
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, OMIM:617164
Tags
Green Green List (high evidence)
ARF1
4 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
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability, MONDO:0001071
  • Epilepsy, MONDO:0005027
Tags
  • gene-checked
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
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)
ARG1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARGININEMIA 207800
Tags
Green Green List (high evidence)
ARG1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Argininaemia (Urea cycle disorders and inherited hyperammonaemias)
  • Argininemia, OMIM:207800
Tags
Green Green List (high evidence)
ARHGAP29
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Research
Phenotypes
  • cleft lip with or without cleft palate
  • Cleft palate
Tags
  • gene-checked
Green Green List (high evidence)
ARHGAP31
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • ADAMS-OLIVER SYNDROME 1
  • AOS1
Tags
Green Green List (high evidence)
ARHGAP31
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Adams-Oliver syndrome 1 100300
Tags
Green Green List (high evidence)
ARHGAP31
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Adams-Oliver syndrome 1, 100300
Tags
Green Green List (high evidence)
ARHGEF9
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
  • Emory Genetics Laboratory
Phenotypes
  • Developmental and epileptic encephalopathy 8, OMIM:300607
Tags
  • Q3_21_MOI
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)
ARID1A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COFFIN-SIRIS SYNDROME 135900
Tags
Green Green List (high evidence)
ARID1B
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 135900
  • COFFIN SIRIS SYNDROME 135900
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
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 8
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)
ARL13B
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome 8
Tags
Green Green List (high evidence)
ARL13B
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome 8
Tags
Green Green List (high evidence)
ARL6
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • {Bardet Biedl syndrome 1, modifier of}
  • Bardet-Biedl Syndrome
  • 268000
  • Bardet Biedl syndrome 3
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)
ARL6
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • {Bardet Biedl syndrome 1, modifier of}
  • Bardet-Biedl Syndrome
  • 268000
  • Bardet Biedl syndrome 3
Tags
Green Green List (high evidence)
ARL6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Polydactyly
  • Bardet-Biedl syndrome 3 600151
Tags
Green Green List (high evidence)
ARL6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Bardet-Biedl syndrome 3 600151
Tags
Green Green List (high evidence)
ARL6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RETINITIS PIGMENTOSA TYPE 55 613575
  • BARDET-BIEDL SYNDROME TYPE 3 209900
Tags
Green Green List (high evidence)
ARMC4
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CILIARY DYSKINESIA, PRIMARY, 23 615451
Tags
  • new-gene-name
Green Green List (high evidence)
ARMC9
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Joubert syndrome 30
Tags
Green Green List (high evidence)
ARMC9
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Joubert syndrome 30, 617622
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)
ARMC9
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
Phenotypes
  • Joubert syndrome 30, 617622
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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARYLSULFATASE A DEFICIENCY 250100
Tags
Green Green List (high evidence)
ARSA
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Metachromatic leukodystrophy
Tags
Green Green List (high evidence)
ARSB
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 6 253200
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
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200
  • Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200
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
3 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • CDPXL
  • Chondrodysplasia punctata, X-linked recessive, 302950
  • X-linked recessive chondrodysplasia punctata
  • 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)
ARSE
2 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHONDRODYSPLASIA PUNCTATA 1, X-LINKED 302950
Tags
  • new-gene-name
Green Green List (high evidence)
ARSE
5 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • CDPXL
  • Chondrodysplasia punctata, X-linked recessive, 302950
  • CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
  • X-linked recessive chondrodysplasia punctata
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)
ARX
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION X-LINKED ARX-RELATED 300419
  • AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA 300004
  • LISSENCEPHALY X-LINKED TYPE 2 300215
  • EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 308350
  • PARTINGTON SYNDROME 309510
Tags
Green Green List (high evidence)
ASAH1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability
Tags
Green Green List (high evidence)
ASAH1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • FARBER LIPOGRANULOMATOSIS
Tags
Green Green List (high evidence)
ASAH1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FARBER LIPOGRANULOMATOSIS 228000
  • SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY 159950
Tags
Green Green List (high evidence)
ASCC1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
  • spinal muscular atrophy
  • arthrogryposis
  • fetal akinesia
  • hypotonia
  • contractures
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 207900
Tags
Green Green List (high evidence)
ASL
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARGININOSUCCINATE LYASE DEFICIENCY 207900
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
  • Argininosuccinic aciduria (Urea cycle disorders and inherited hyperammonaemias)
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
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)
ASPA
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CANAVAN DISEASE 271900
Tags
Green Green List (high evidence)
ASPM
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936
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, 608716
  • PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY
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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CITRULLINEMIA TYPE I 615700
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
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BOHRING-OPITZ SYNDROME 605039
Tags
Green Green List (high evidence)
ASXL1
4 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Bohring-Opitz syndrome 605039
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)
ASXL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • BOHRING-OPITZ SYNDROME
  • BOPS
Tags
Green Green List (high evidence)
ASXL1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bohring-Opitz syndrome, 605039
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)
ASXL2
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Shashi-Pena syndrome 617190
  • 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
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
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy
  • ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy
Tags
  • Q3_21_MOI
Green Green List (high evidence)
ATAD3A
5 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
Phenotypes
  • Harel-Yoon syndrome, OMIM:617183
  • Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810
  • Lactic acidosis
  • Methylglutaconic aciduria
Tags
Green Green List (high evidence)
ATIC
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AICA-RIBOSURIA 608688
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)
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)
ATM
3 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)
ATM
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATAXIA-TELANGIECTASIA 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
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • PARKINSON DISEASE 9
Tags
Green Green List (high evidence)
ATP13A2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • PARKINSON DISEASE 9 606693
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)
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)
ATP1A3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • RAPID-ONSET DYSTONIA-PARKINSONISM 128235
  • ALTERNATING HEMIPLEGIA OF CHILDHOOD 104290
Tags
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)
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)
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)
ATP6V0A2
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Cutis laxa, autosomal recessive, type IIA 219200
  • Cutis laxa, autosomal recessive, type IIA 219200
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)
ATP6V1B1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS 267300
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
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)
ATP7A
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 300489
  • OCCIPITAL HORN SYNDROME 304150
  • MENKES DISEASE 309400
Tags
Green Green List (high evidence)
ATP7A
3 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Menkes disease
Tags
Green Green List (high evidence)
ATP7A
4 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinal muscular atrophy, distal, 300489
  • Menkes disease 309400
  • Occipital horn syndrome 304150
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)
ATP8B1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS 211600
Tags
Green Green List (high evidence)
ATP9A
3 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
Tags
  • gene-checked
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)
ATRX
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1 309580
  • ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE 301040
Tags
Green Green List (high evidence)
AUH
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • 3-METHYLGLUTACONIC ACIDURIA TYPE 1 250950
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)
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)
AUTS2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SYNDROMIC INTELLECTUAL DISABILITY 612100
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)
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)
B3GALT6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, progeroid type, 2
Tags
Green Green List (high evidence)
B3GALT6
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Ehlers-Danlos syndrome, progeroid type, 2 615349
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640
Tags
Green Green List (high evidence)
B3GALT6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1 271640
  • EHLERS-DANLOS SYNDROME 130070
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)
B3GAT3
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600
  • Larsen alike phenotype (skd incl)
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
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • PETERS-PLUS SYNDROME
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)
B3GLCT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Peters-plus syndrome 261540
  • O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Tags
Green Green List (high evidence)
B4GALNT1
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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EHLERS-DANLOS SYNDROME PROGEROID TYPE 130070
Tags
Green Green List (high evidence)
B4GALT7
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Ehlers-Danlos syndrome with short stature and limb anomalies 130070
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
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Joubert syndrome 34, OMIM:614175
  • Meckel syndrome 10, OMIM:614175
  • Meckel syndrome, type 10, MONDO:0013609
Tags
Green Green List (high evidence)
B9D2
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Joubert syndrome 34, OMIM:614175
  • Meckel syndrome 10, OMIM:614175
  • Meckel syndrome, type 10, MONDO:0013609
Tags
Green Green List (high evidence)
B9D2
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 34, OMIM:614175
  • Meckel syndrome 10, OMIM:614175
  • Meckel syndrome, type 10, MONDO:0013609
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)
BBS1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 1 OMIM:209900
  • Bardet-Biedl syndrome 1 MONDO:0008854
Tags
Green Green List (high evidence)
BBS1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Polydactyly
  • Bardet-Biedl syndrome 1 OMIM:209900
  • Bardet-Biedl syndrome 1 MONDO:0008854
Tags
Green Green List (high evidence)
BBS1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Bardet-Biedl syndrome 1 OMIM:209900
  • Bardet-Biedl syndrome 1 MONDO:0008854
Tags
Green Green List (high evidence)
BBS1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 13
  • 268000
  • Bardet Biedl syndrome 1
  • Bardet Biedl syndrome 11
Tags
Green Green List (high evidence)
BBS1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 1 OMIM:209900
  • Bardet-Biedl syndrome 1 MONDO:0008854
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)
BBS10
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 10
Tags
Green Green List (high evidence)
BBS10
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 10
Tags
Green Green List (high evidence)
BBS10
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Polydactyly
  • Bardet Biedl syndrome 10, 615987
Tags
Green Green List (high evidence)
BBS10
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 10 209900
Tags
Green Green List (high evidence)
BBS10
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Bardet Biedl syndrome 10, 615987
Tags
Green Green List (high evidence)
BBS12
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Polydactyly
  • Bardet Biedl syndrome 12, 615989
Tags
Green Green List (high evidence)
BBS12
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 12 209900
Tags
Green Green List (high evidence)
BBS12
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Bardet Biedl syndrome 12, 615989
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)
BBS12
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 12
Tags
Green Green List (high evidence)
BBS12
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 12
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)
BBS2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 2
Tags
Green Green List (high evidence)
BBS2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 2
Tags
Green Green List (high evidence)
BBS2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 2 209900
Tags
Green Green List (high evidence)
BBS2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Bardet-Biedl syndrome 2, 615981
Tags
Green Green List (high evidence)
BBS2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Polydactyly
  • Bardet-Biedl syndrome 2, 615981
Tags
Green Green List (high evidence)
BBS4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 4 209900
Tags
Green Green List (high evidence)
BBS4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Bardet-Biedl syndrome 4, 615982
Tags
Green Green List (high evidence)
BBS4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Polydactyly
  • Bardet-Biedl syndrome 4, 615982
Tags
Green Green List (high evidence)
BBS4
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 4
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)
BBS4
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 4
Tags
Green Green List (high evidence)
BBS5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 5
Tags
Green Green List (high evidence)
BBS5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 5
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)
BBS5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Polydactyly
  • Bardet Biedl syndrome 5, 615983
Tags
Green Green List (high evidence)
BBS5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 5 209900
Tags
Green Green List (high evidence)
BBS5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Bardet Biedl syndrome 5, 615983
Tags
Green Green List (high evidence)
BBS7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Bardet-Biedl syndrome 7, 615984
Tags
Green Green List (high evidence)
BBS7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 7 209900
Tags
Green Green List (high evidence)
BBS7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Polydactyly
  • Bardet-Biedl syndrome 7, 615984
Tags
Green Green List (high evidence)
BBS7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 7
Tags
Green Green List (high evidence)
BBS7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 7
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)
BBS9
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 9
Tags
Green Green List (high evidence)
BBS9
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 9
Tags
Green Green List (high evidence)
BBS9
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 9 209900
Tags
Green Green List (high evidence)
BBS9
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Polydactyly
  • Bardet Biedl syndrome 9, 615986
Tags
Green Green List (high evidence)
BBS9
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Bardet Biedl syndrome 9, 615986
Tags
Green Green List (high evidence)
BCAP31
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
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
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)
BCKDHA
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MAPLE SYRUP URINE DISEASE 248600
Tags
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)
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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MAPLE SYRUP URINE DISEASE 248600
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)
BCL11A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • 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)
BCOR
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
Phenotypes
  • MICROPHTHALMIA, SYNDROMIC 2
  • MCOPS2
Tags
Green Green List (high evidence)
BCOR
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROPHTHALMIA SYNDROMIC TYPE 2 300166
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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GRACILE SYNDROME 603358
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)
BFSP2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED 611597
Tags
Green Green List (high evidence)
BGN
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Severe syndromic form of thoracic aortic aneurysm & dissection
  • X-Linked Spondyloepimetaphyseal Dysplasia
Tags
  • watchlist
Green Green List (high evidence)
BHLHA9
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert list
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432
  • Polydactyly
Tags
Green Green List (high evidence)
BHLHA9
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432
Tags
Green Green List (high evidence)
BHLHA9
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPLIT HAND AND FOOT MALFORMATION 220600
  • MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE 69432
Tags
Green Green List (high evidence)
BICD2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE
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)
BIN1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CENTRONUCLEAR MYOPATHY 2 255200
Tags
Green Green List (high evidence)
BLM
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BLOOM SYNDROME 210900
Tags
Green Green List (high evidence)
BLM
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bloom syndrome, 210900
  • BLOOM SYNDROME
Tags
Green Green List (high evidence)
BMP1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Osteogenesis imperfecta, type XIII, 614856
Tags
Green Green List (high evidence)
BMP2
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877.
  • Brachydactyly, type A2 112600
  • {HFE hemochromatosis, modifier of} 235200
Tags
  • cnv
Green Green List (high evidence)
BMP2
5 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Brachydactyly, type A2 112600
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 617877
Tags
  • cnv
Green Green List (high evidence)
BMP2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cleft palate
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877
Tags
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)
BMP4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Microphthalmia, syndromic 6 607932
Tags
Green Green List (high evidence)
BMP4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROPHTHALMIA, SYNDROMIC 6 607932
  • OROFACIAL CLEFT 11 600625
Tags
Green Green List (high evidence)
BMPER
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DIAPHANOSPONDYLODYSOSTOSIS 608022
Tags
Green Green List (high evidence)
BMPER
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Diaphanospondylodysostosis 608022
Tags
Green Green List (high evidence)
BMPR1B
4 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Expert list
Phenotypes
  • Acromesomelic dysplasia, Demirhan type, OMIM:609441
  • Brachydactyly, type A1, D, OMIM:616849
  • Brachydactyly, type A2, OMIM:112600
Tags
Green Green List (high evidence)
BMPR1B
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Acromesomelic dysplasia, Demirhan type, OMIM:609441
  • Brachydactyly, type A1, D, OMIM:616849
  • Brachydactyly, type A2, OMIM:112600
Tags
Green Green List (high evidence)
BMPR1B
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BRACHYDACTYLY TYPE A2 112600
Tags
Green Green List (high evidence)
BNC2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Congenital Lower Urinary Tract Obstruction
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
  • 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)
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)
BRAF
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEOPARD SYNDROME TYPE 3 613707
  • NOONAN SYNDROME TYPE 7 613706
  • CARDIOFACIOCUTANEOUS SYNDROME 115150
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)
BRCA1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY 616579
Tags
Green Green List (high evidence)
BRCA2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1 605724
Tags
Green Green List (high evidence)
BRCA2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group D1, OMIM:605724
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)
BRIP1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP J 609054
Tags
Green Green List (high evidence)
BRIP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group J, OMIM:609054
  • Radial ray abnormality
Tags
Green Green List (high evidence)
BRPF1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BRPF1 associated syndromic intellectual disability with ptosis
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)
BRWD3
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 93 300659
Tags
Green Green List (high evidence)
BSCL2
6 reviews
2 green 2 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • 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
  • Q3_21_MOI
Green Green List (high evidence)
BSND
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARTTER SYNDROME TYPE 4A 602522
Tags
Green Green List (high evidence)
BTD
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BIOTINIDASE DEFICIENCY 253260
Tags
Green Green List (high evidence)
BTD
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Biotinidase deficiency (Disorders of biotin metabolism)
  • Biotinidase deficiency
  • lactic acidosis with seizures and eczema,immune deficiency
Tags
Green Green List (high evidence)
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)
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)
BUB1B
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 257300
Tags
Green Green List (high evidence)
C11orf70
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • PRIMARY CILIARY DYSKINESIA
Tags
  • gene-checked
  • new-gene-name
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
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
  • 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
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 613559
Tags
  • new-gene-name
Green Green List (high evidence)
C19orf12
6 reviews
1 green 3 red 		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
  • Q2_22_MOI
Green Green List (high evidence)
C19orf70
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 37, 618329
Tags
  • new-gene-name
Green Green List (high evidence)
C1QBP
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Literature
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 33 617713
Tags
Green Green List (high evidence)
C21orf2
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Spondylometaphyseal dysplasia, axial 602271
  • Axial Spondylometaphyseal Dysplasia 602271
Tags
  • new-gene-name
Green Green List (high evidence)
C21orf2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Axial Spondylometaphyseal Dysplasia
Tags
  • new-gene-name
Green Green List (high evidence)
C21orf2
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Jeune asphyxiating thoracic dystrophy (JATD)
  • Jeune Syndrome
  • Spondylometaphyseal dysplasia, axial, 602271
  • Retinal dystrophy with macular staphyloma, 617547
Tags
  • new-gene-name
Green Green List (high evidence)
C21orf2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Jeune asphyxiating thoracic dystrophy (JATD)
  • Jeune Syndrome
  • Spondylometaphyseal dysplasia, axial, 602271
  • Retinal dystrophy with macular staphyloma, 617547
Tags
  • new-gene-name
Green Green List (high evidence)
C2CD3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • OROFACIODIGITAL SYNDROME XIV
  • OFD14
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)
C2CD3
4 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • short-rib polydactyly syndromes (SRPS
  • MIM208500)
  • MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD
  • ?Orofaciodigital syndrome XIV, 615948
  • Orofaciodigital syndromes (OFDS, MIM 311200)
Tags
Green Green List (high evidence)
C2CD3
4 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • short-rib polydactyly syndromes (SRPS
  • MIM208500)
  • MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD
  • ?Orofaciodigital syndrome XIV, 615948
  • Orofaciodigital syndromes (OFDS, MIM 311200)
Tags
Green Green List (high evidence)
C2CD3
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
  • UKGTN
Phenotypes
  • Orofaciodigital syndrome XIV 615948
Tags
Green Green List (high evidence)
C2orf71
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RETINITIS PIGMENTOSA 54 613428
Tags
  • new-gene-name
Green Green List (high evidence)
C4orf26
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AMYELOGENESIS 614832
Tags
  • new-gene-name
Green Green List (high evidence)
C5orf42
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JOUBERT SYNDROME 614615
Tags
  • new-gene-name
Green Green List (high evidence)
C5orf42
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome
  • Oral-facial-digital syndrome type VI
  • Joubert syndrome 17
Tags
  • new-gene-name
Green Green List (high evidence)
C5orf42
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome
  • Oral-facial-digital syndrome type VI
  • Joubert syndrome 17
Tags
  • new-gene-name
Green Green List (high evidence)
C5orf42
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • OROFACIODIGITAL SYNDROME VI
  • OFD6
Tags
  • new-gene-name
Green Green List (high evidence)
C5orf42
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome
  • Oral-facial-digital syndrome type VI
  • Joubert syndrome 17
Tags
  • new-gene-name
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)
C8orf37
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Bardet-Biedl syndrome 21, OMIM:617406, MONDO:0044308
  • Cone-rod dystrophy 16, OMIM:614500, MONDO:0013786
  • Retinitis pigmentosa 64, OMIM:614500, MONDO:0019200
Tags
  • new-gene-name
Green Green List (high evidence)
C8orf37
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONE-ROD DYSTROPHY 16 614500
Tags
  • new-gene-name
Green Green List (high evidence)
CA2
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730
Tags
Green Green List (high evidence)
CA2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 259730
Tags
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)
CA8
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 613227
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
5 reviews
2 green 2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Developemental and epileptic encephalopathy 42, OMIM:617106
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
  • Brugada syndrome 3 611875
  • Timothy syndrome 601005
Tags
Green Green List (high evidence)
CACNA1C
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • TIMOTHY SYNDROME 601005
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)
CACNA1E
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia
Tags
  • watchlist
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
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder
Tags
  • gene-checked
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)
CAD
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Uridine-responsive epileptic encephalopathy
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)
CANT1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Desbuquois dysplasia 1 251450
  • multiple epiphyseal dysplasia type 7, 617719.
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)
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)
CASK
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION X-LINKED CASK-RELATED 300749
  • FG SYNDROME TYPE 4 300422
  • MRX WITH/WITHOUT NYSTAGMUS 300749
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)
CASR
4 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Hypocalcemia, autosomal dominant 601198
  • Hypocalciuric hypercalcemia, type I 145980
  • Hyperparathyroidism, neonatal 239200
  • Hypocalcemia, autosomal dominant, with Bartter syndrome 601198
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
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA 613563
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)
CBS
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CYSTATHIONINE BETA-SYNTHASE DEFICIENCY 236200
Tags
Green Green List (high evidence)
CC2D1A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 608443
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
  • Mental retardation, autosomal recessive 3, 608443
  • MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 (MRT3)
Tags
Green Green List (high evidence)
CC2D2A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 9
  • COACH syndrome
  • Joubert syndrome with oculorenal defect
  • Meckel syndrome 6
  • Meckel syndrome
Tags
Green Green List (high evidence)
CC2D2A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Meckel syndrome 6, 612284
  • MKS6
  • Meckel-Gruber syndrome
Tags
Green Green List (high evidence)
CC2D2A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Other
Phenotypes
  • Joubert syndrome 9
  • COACH syndrome
  • Joubert syndrome with oculorenal defect
  • Meckel syndrome 6
  • Meckel syndrome
Tags
Green Green List (high evidence)
CC2D2A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Other
Phenotypes
  • Joubert syndrome 9
  • COACH syndrome
  • Joubert syndrome with oculorenal defect
  • Meckel syndrome 6
  • Meckel syndrome
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)
CC2D2A
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Meckel syndrome 6 612284
Tags
Green Green List (high evidence)
CC2D2A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JOUBERT SYNDROME 9 612285
  • COACH SYNDROME 216360
  • MECKEL SYNDROME, TYPE 6 612284
Tags
Green Green List (high evidence)
CCBE1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 235510
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)
CCDC103
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CILIARY DYSKINESIA
Tags
Green Green List (high evidence)
CCDC114
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CILIARY DYSKINESIA
Tags
  • new-gene-name
Green Green List (high evidence)
CCDC115
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Disorder of Golgi homeostasis
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)
CCDC39
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CILIARY DYSKINESIA, PRIMARY, 14 613807
Tags
Green Green List (high evidence)
CCDC40
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CILIARY DYSKINESIA, PRIMARY, 15 613808
Tags
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)
CCDC65
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CILIARY DYSKINESIA
Tags
Green Green List (high evidence)
CCDC8
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • 3-M syndrome 3, 614205
Tags
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)
CCND2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 603387
Tags
Green Green List (high evidence)
CCND2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938
Tags
Green Green List (high evidence)
CCNO
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CILIARY DYSKINESIA, PRIMARY, 29 615872
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)
CDC45
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Craniosynostosis (Wilkie) (from Ana Beleza)
  • Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770)
Tags
Green Green List (high evidence)
CDC45
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Meier-Gorlin Syndrome and Craniosynostosis
Tags
Green Green List (high evidence)
CDC6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MEIER-GORLIN SYNDROME 5 613805
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)
CDH1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Expert Review Green
Phenotypes
  • BLEPHAROCHEILODONTIC
  • Blepharocheilodontic syndrome 1
Tags
Green Green List (high evidence)
CDH1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Blepharo-cheiro-dontic syndrome
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)
CDH2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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)
CDH23
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • USHER SYNDROME TYPE 1D 601067
  • DEAFNESS AUTOSOMAL RECESSIVE TYPE 12 601386
Tags
Green Green List (high evidence)
CDH3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EEM SYNDROME 225280
  • HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553
Tags
Green Green List (high evidence)
CDH3
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280
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)
CDK13
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
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
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • SYNDROMIC INTELLECTUAL DISABILITY
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)
CDKL5
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 300672
Tags
Green Green List (high evidence)
CDKN1C
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • IMAGE syndrome 614732
Tags
Green Green List (high evidence)
CDKN1C
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
Phenotypes
  • BECKWITH-WIEDEMANN SYNDROME
  • BWS
Tags
Green Green List (high evidence)
CDKN1C
1 review
 MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BECKWITH-WIEDEMANN SYNDROME 130650
  • IMAGe Syndrome
Tags
Green Green List (high evidence)
CDON
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HOLOPROSENCEPHALY 11 614226
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)
CDT1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meier-Gorlin syndrome 4 613804
Tags
Green Green List (high evidence)
CDT1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MEIER-GORLIN SYNDROME 4 613804
Tags
Green Green List (high evidence)
CDX1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • anorectal malformation
Tags
  • gene-checked
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)
CENPF
3 reviews
1 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stromme syndrome, OMIM:243605
  • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Tags
Green Green List (high evidence)
CENPF
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stromme syndrome, 243605
  • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Tags
Green Green List (high evidence)
CENPF
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Stromme syndrome, 243605
  • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Tags
Green Green List (high evidence)
CENPF
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Stromme syndrome 243605
Tags
Green Green List (high evidence)
CENPJ
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SECKEL SYNDROME TYPE 4 613676
  • MICROCEPHALY PRIMARY TYPE 6 608393
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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 25, 616781
  • Joubert syndrome 25
Tags
Green Green List (high evidence)
CEP104
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Joubert syndrome 25, 616781
  • Joubert syndrome 25
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)
CEP104
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Joubert syndrome 25, 616781
  • Joubert syndrome 25
Tags
Green Green List (high evidence)
CEP104
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Joubert syndrome 25, 616781
Tags
Green Green List (high evidence)
CEP120
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
  • UKGTN
Phenotypes
  • Joubert syndrome 213300
  • Short-rib thoracic dysplasia 13 with or without polydactyly 616300
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)
CEP120
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Expert Review Green
Phenotypes
  • Short-rib thoracic dysplasia 13 with or without polydactyly
  • Jeune syndrome
  • Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel
  • 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)
CEP152
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROCEPHALY PRIMARY TYPE 4 604321
  • SECKEL SYNDROME TYPE 5 613823
Tags
Green Green List (high evidence)
CEP164
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
  • Nephronophthisis 15
  • Senior-Loken syndrome
  • Nephronophthisis 15, 614845
Tags
Green Green List (high evidence)
CEP164
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
  • Nephronophthisis 15
  • Senior-Loken syndrome
  • Nephronophthisis 15, 614845
Tags
Green Green List (high evidence)
CEP290
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Other
Phenotypes
  • 610189
  • Meckel syndrome 4
  • Senior-Loken syndrome
  • 611755
  • Joubert syndrome 5
  • Joubert syndrome with oculorenal defect
  • 610188
  • Senior-Loken syndrome 6
  • 611134
  • Meckel syndrome
Tags
Green Green List (high evidence)
CEP290
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Other
Phenotypes
  • 610189
  • Meckel syndrome 4
  • Senior-Loken syndrome
  • 611755
  • Joubert syndrome 5
  • Joubert syndrome with oculorenal defect
  • 610188
  • Senior-Loken syndrome 6
  • 611134
  • Meckel syndrome
Tags
Green Green List (high evidence)
CEP290
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 610189
  • Meckel syndrome 4
  • Senior-Loken syndrome
  • 611755
  • Joubert syndrome 5
  • Joubert syndrome with oculorenal defect
  • 610188
  • Senior-Loken syndrome 6
  • 611134
  • Meckel syndrome
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)
CEP290
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Meckel syndrome 4 611134
  • Senior-Loken syndrome 6 610189
  • Joubert syndrome 5 610188
  • Bardet-Biedl syndrome 14 615991
  • Leber congenital amaurosis 10
Tags
Green Green List (high evidence)
CEP290
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 14 209900
  • LEBER CONGENITAL AMAUROSIS TYPE 10 611755
  • JOUBERT SYNDROME TYPE 5 610188
  • SENIOR-LOKEN SYNDROME TYPE 6 610189
  • MECKEL SYNDROME TYPE 4 611134
Tags
Green Green List (high evidence)
CEP41
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • JOUBERT SYNDROME 15 614464
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)
CEP41
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome 15
Tags
Green Green List (high evidence)
CEP41
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome 15
Tags
Green Green List (high evidence)
CEP41
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 15
Tags
Green Green List (high evidence)
CEP55
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • microcephaly, developmental delay and bilateral toe syndactyly
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)
CEP57
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 614114
Tags
Green Green List (high evidence)
CEP83
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
CEP83
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nephronophthisis 18 615862
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)
CFAP53
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Heterotaxy, visceral, 6, autosomal recessive
Tags
Green Green List (high evidence)
CFC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Heterotaxy, visceral, 2, autosomal 605376
Tags
Green Green List (high evidence)
CHAMP1
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
CHAMP1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
CHCHD10
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
  • ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
  • Spinal muscular atrophy, Jokela type
Tags
Green Green List (high evidence)
CHD2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
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)
CHD4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
Tags
Green Green List (high evidence)
CHD5
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability, MONDO:0001071
  • Epilepsy, MONDO:0005027
Tags
  • gene-checked
Green Green List (high evidence)
CHD7
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • CHARGE SYNDROME
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)
CHD7
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHARGE SYNDROME 214800
  • IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110
  • KALLMANN SYNDROME TYPE 5 612370
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)
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)
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)
CHM
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CHOROIDEREMIA 303100
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)
CHRDL1
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MEGALOCORNEA, X-LINKED 309300
Tags
Green Green List (high evidence)
CHRNA3
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • CAKUT
  • dysautonomia
  • Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800
Tags
Green Green List (high evidence)
CHRNA4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1 600513
Tags
Green Green List (high evidence)
CHRNG
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT 265000
Tags
Green Green List (high evidence)
CHRNG
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Escobar syndrome, 265000
  • MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE
  • Multiple pterygium syndrome, lethal type, 253290
  • PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE
Tags
Green Green List (high evidence)
CHST14
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1
  • EDSMC1
Tags
Green Green List (high evidence)
CHST14
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Ehlers-Danlos syndrome, musculocontractural type 1 601776
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)
CHST14
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE 601776
Tags
Green Green List (high evidence)
CHST3
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095
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)
CHST3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS 143095
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
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Temtamy preaxial brachydactyly syndrome 605282
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)
CHSY1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Temtamy preaxial brachydactyly syndrome 605282
Tags
Green Green List (high evidence)
CHSY1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME 605282
Tags
Green Green List (high evidence)
CHUK
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COCOON SYNDROME 613630
Tags
Green Green List (high evidence)
CIB2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NONSYNDROMIC DEAFNESS DFNB48 609439
  • USHER SYNDROME TYPE 1J 614869
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)
CISD2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • WOLFRAM SYNDROME TYPE 2 604928
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)
CKAP2L
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Filippi syndrome 272440
  • FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION
Tags
Green Green List (high evidence)
CKAP2L
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION 272440
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
  • Mental retardation, X-linked 49-15 300114
Tags
Green Green List (high evidence)
CLCN5
4 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990
  • Dent disease 300009
  • Nephrolithiasis, type I 310468
  • Hypophosphatemic rickets 300554
Tags
Green Green List (high evidence)
CLCN7
4 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 4, OMIM:611490
  • Osteopetrosis, autosomal dominant 2, OMIM:166600
Tags
Green Green List (high evidence)
CLCN7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CLCN7-RELATED OSTEOPETROSIS 611490
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)
CLDN19
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT 248190
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)
CLN3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 204200
Tags
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)
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)
CLN5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 5 OMIM:256731
  • neuronal ceroid lipofuscinosis 5 MONDO:0009745
Tags
Green Green List (high evidence)
CLN5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 5 OMIM:256731
  • neuronal ceroid lipofuscinosis 5 MONDO:0009745
Tags
Green Green List (high evidence)
CLN6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET 204300
  • CEROID LIPOFUSCINOSIS, NEURONAL, 6 601780
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)
CLN8
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 NORTHERN EPILEPSY VARIANT 610003
  • NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 600143
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 VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271
Tags
Green Green List (high evidence)
CLPB
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA 616271
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 VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271
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
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
  • INTELLECTUAL DISABILITY WITH EPILEPSY
  • X-linked intellectual disability
  • XLID
Tags
Green Green List (high evidence)
CNNM2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • 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
  • 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)
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)
CNOT3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CNOT3 syndrome
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)
CNTNAP2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME 610042
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
  • ?{Fatal infantile cardiomyopathy, association with}, 604377
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)
COASY
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Neurodegeneration with brain iron accumulation 6, 615643
Tags
Green Green List (high evidence)
COASY
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
Tags
Green Green List (high evidence)
COG1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation, type IIg 611209
Tags
Green Green List (high evidence)
COG1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COG1-CDG 300197
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)
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)
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
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Saul-Wilson syndrome, OMIM:618150
  • microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407
Tags
Green Green List (high evidence)
COG4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • COG4-CDG 319493
  • Saul-Wilson syndrome 618150
Tags
  • watchlist
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
6 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type III, 613612
  • COG5-CDG
  • CDG-III
Tags
  • Q3_21_MOI
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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COG7-CDG 300171
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
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)
COG8
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COG8-CDG 300204
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)
COL10A1
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Metaphyseal chondrodysplasia, Schmid type 156500
Tags
Green Green List (high evidence)
COL10A1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA 156500
Tags
Green Green List (high evidence)
COL11A1
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • STICKLER SYNDROME, TYPE II 604841
  • FIBROCHONDROGENESIS 228520
Tags
Green Green List (high evidence)
COL11A1
4 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stickler syndrome, type II, OMIM:604841
  • Marshall syndrome, OMIM:154780
  • Fibrochondrogenesis 1, OMIM:228520
Tags
Green Green List (high evidence)
COL11A1
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Marshall Syndrome, OMIM:154780
  • Stickler syndrome, type II, OMIM:604841
Tags
Green Green List (high evidence)
COL11A2
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Stickler syndrome, type III
  • STICKLER SYNDROME, NONOCULAR TYPE
  • OSMED
  • STL3
  • Non-ocular Stickler syndrome
  • Cleft palate
Tags
Green Green List (high evidence)
COL11A2
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • WEISSENBACHER-ZWEYMUELLER SYNDROME 184840
  • AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA 215150
  • DEAFNESS AUTOSOMAL DOMINANT TYPE 13 601868
  • STICKLER SYNDROME TYPE 3 184840
  • DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 609706
Tags
Green Green List (high evidence)
COL11A2
4 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stickler syndrome, type III 184840
  • Otospondylomegaepiphyseal dysplasia 215150
  • Fibrochondrogenesis 2 614524?
  • Fibrochondrogenesis 2 614524
  • Weissenbacher-Zweymuller syndrome 277610
Tags
Green Green List (high evidence)
COL18A1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Knobloch syndrome, type 1, OMIM:267750
Tags
Green Green List (high evidence)
COL1A1
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Osteogenesis imperfecta, type I 166200
  • Caffey disease 114000
  • Osteogenesis imperfecta, type III 259420
  • Osteogenesis imperfecta, type II 166210
  • Ehlers-Danlos syndrome, type VIIA 130060
  • Ehlers-Danlos syndrome, classic 130000
  • Osteogenesis imperfecta, type IV 166220
Tags
Green Green List (high evidence)
COL1A1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CAFFEY DISEASE 114000
  • OSTEOGENESIS IMPERFECTA TYPE IIA 166210
  • OSTEOGENESIS IMPERFECTA TYPE III 259420
  • COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA 166210
  • EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED 130060
  • OSTEOGENESIS IMPERFECTA TYPE I 166200
  • EHLERS-DANLOS SYNDROME TYPE VIIA 319158
Tags
Green Green List (high evidence)
COL1A2
4 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Eligibility statement prior genetic testing
  • Expert
Phenotypes
  • Ehlers-Danlos syndrome, cardiac valvular form, OMIM:225320
  • Ehlers-Danlos syndrome, type VIIB, OMIM:130060
  • Osteogenesis imperfecta, type II, OMIM:166210
  • Osteogenesis imperfecta, type III, OMIM:259420
  • Osteogenesis imperfecta, type IV, OMIM:166220
Tags
  • Q2_22_expert_review
  • Q2_22_MOI
Green Green List (high evidence)
COL2A1
4 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Epiphyseal dysplasia, multiple, with myopia and deafness 132450
  • Spondyloepiphyseal dysplasia, Stanescu type 616583
  • Stickler sydrome, type I, nonsyndromic ocular 609508
  • Achondrogenesis, type II or hypochondrogenesis 200610
  • Kniest dysplasia 156550
  • Legg-Calve-Perthes disease 150600
  • Otospondylomegaepiphyseal dysplasia 215150
  • Stickler syndrome, type I 108300
  • SMED Strudwick type 184250
  • Spondyloperipheral dysplasia 271700
  • Platyspondylic skeletal dysplasia, Torrance type 151210
  • Czech dysplasia 609162
  • SED congenita 183900
  • Osteoarthritis with mild chondrodysplasia 604864
  • Avascular necrosis of the femoral head 608805
Tags
Green Green List (high evidence)
COL2A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • ACHONDROGENESIS TYPE 2 200610
  • PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE 151210
  • SPONDYLOPERIPHERAL DYSPLASIA 271700
  • PRIMARY AVASCULAR NECROSIS OF FEMORAL HEAD 608805
  • SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE 184250
  • SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA 183900
  • RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT 609508
  • KNIEST DYSPLASIA 156550
  • STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR 609508
Tags
  • watchlist
Green Green List (high evidence)
COL2A1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Platyspondylic skeletal dysplasia, Torrance type 151210
  • Achondrogenesis, type II or hypochondrogenesis 200610
  • Spondyloperipheral dysplasia 271700
Tags
Green Green List (high evidence)
COL2A1
4 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • STICKLER SYNDROME, TYPE I (STL1), 108300
  • Orofacial Clefting with skeletal features
  • Stickler Syndrome
  • Stickler syndrome (cleft palate,micrognathia,vireo-retinal anomalies, severe myopia, joint problems, hearing loss)
  • Stickler sydrome, type I, non syndromic ocular
  • STICKLER SYNDROME, VITREOUS TYPE 1
  • STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE
  • ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE, AOM
  • STICKLER SYNDROME, TYPE I
  • STL1
  • Cleft palate
Tags
Green Green List (high evidence)
COL4A1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • PORENCEPHALY 1 175780
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)
COL4A2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • PORENCEPHALY 2 614483
Tags
Green Green List (high evidence)
COL4A3
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780
  • ALPORT SYNDROME AUTOSOMAL DOMINANT 104200
Tags
Green Green List (high evidence)
COL4A3BP
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
  • new-gene-name
Green Green List (high evidence)
COL4A3BP
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
  • new-gene-name
Green Green List (high evidence)
COL4A4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780
Tags
Green Green List (high evidence)
COL6A1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COL6A1 associated myopathy
Tags
Green Green List (high evidence)
COL6A3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DYSTONIA 27 616411
  • ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 254090
Tags
Green Green List (high evidence)
COL9A1
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert
  • Emory Genetics Laboratory
Phenotypes
  • Stickler syndrome, type IV, OMIM:614134
  • Epiphyseal dysplasia, multiple, 6, OMIM:614135
Tags
  • Q4_21_MOI
Green Green List (high evidence)
COL9A1
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • STICKLER SYNDROME TYPE 4 614134
  • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6 614135
Tags
Green Green List (high evidence)
COL9A1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Stickler syndrome, type IV, OMIM:614134
Tags
Green Green List (high evidence)
COL9A2
4 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Stickler syndrome, type V, OMIM:614284
  • Epiphyseal dysplasia, multiple, 2, OMIM:600204
Tags
Green Green List (high evidence)
COL9A2
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2 600204
  • STICKLER SYNDROME, TYPE V 614284
Tags
Green Green List (high evidence)
COL9A3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3 600969
  • Stickler syndrome
Tags
  • watchlist
Green Green List (high evidence)
COL9A3
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert
Phenotypes
  • Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969
Tags
Green Green List (high evidence)
COLEC10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3MC SYNDROME 3
  • 3MC3
Tags
Green Green List (high evidence)
COLEC11
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • 3MC syndrome 2 265050
Tags
Green Green List (high evidence)
COLEC11
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • 3MC SYNDROME 2 265050
Tags
Green Green List (high evidence)
COLEC11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3MC SYNDROME 2
  • 3MC2
Tags
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)
COMP
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400
  • PSEUDOACHONDROPLASIA, 177170
Tags
  • watchlist
Green Green List (high evidence)
COMP
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Epiphyseal dysplasia, multiple, 1 132400
  • Pseudoachondroplasia 177170
Tags
  • nucleotide-repeat-expansion
Green Green List (high evidence)
COPB2
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • juvenile osteoporosis
  • Osteopenia
  • Osteoporosis
  • recurrent fractures
Tags
  • Q1_22_MOI
  • watchlist_moi
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
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1, OMIM:607426
Tags
Green Green List (high evidence)
COQ2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COENZYME Q10 DEFICIENCY 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
  • Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 7
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)
COQ6
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 6, 614650
  • Steroid-resistant nephrotic syndrome
  • Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of ubiquinone metabolism and biosynthesis
Tags
Green Green List (high evidence)
COQ7
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Coenzyme Q10 deficiency, primary, 8 616733
Tags
Green Green List (high evidence)
COQ8A
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency
  • Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 4, 612016
Tags
Green Green List (high evidence)
COQ8A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COENZYME Q10 DEFICIENCY 607426
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)
COQ8B
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 9
Tags
Green Green List (high evidence)
COQ9
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COENZYME Q10 DEFICIENCY 607426
Tags
Green Green List (high evidence)
COQ9
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 5, 614654
  • Coenzyme Q10 deficiency
  • Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of ubiquinone metabolism and biosynthesis
Tags
Green Green List (high evidence)
COX10
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEIGH SYNDROME 256000
  • MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
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
  • Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
  • Isolated complex IV deficiency
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
Tags
Green Green List (high evidence)
COX10
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • LEIGH SYNDROME (LS)
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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEIGH SYNDROME 256000
  • MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
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 Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
  • Isolated complex IV deficiency
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Leigh syndrome due to cytochrome c oxidase deficiency, 256000
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
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
  • Leigh syndrome due to cytochrome c oxidase deficiency, 256000Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
  • MITOCHONDRIAL COMPLEX IV DEFICIENCY (MT-C4D)
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)
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)
COX6B1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
Tags
Green Green List (high evidence)
COX7B
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROPHTHALMIA WITH LINEAR SKIN LESIONS 300887
Tags
Green Green List (high evidence)
COX7B
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Isolated complex IV deficiency
  • Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Linear skin defects with multiple congenital anomalies
  • Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887
  • MICROPHTHALMIA WITH LINEAR SKIN LESIONS
Tags
Green Green List (high evidence)
CP
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia, 604290
  • Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Tags
Green Green List (high evidence)
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)
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
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY 237300
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
3 reviews
1 green 1 red 		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
  • Q1_22_MOI
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)
CRB1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE 600105
  • LEBER CONGENITAL AMAUROSIS 8 613835
Tags
Green Green List (high evidence)
CRB2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE 219730
Tags
Green Green List (high evidence)
CRB2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ventriculomegaly with cystic kidney disease 219730
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)
CRB2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Ventriculomegaly with cystic kidney disease 219730
Tags
Green Green List (high evidence)
CREB3L1
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
  • Expert Review
Phenotypes
  • Osteogenesis imperfecta, type XVI 616229
Tags
Green Green List (high evidence)
CREBBP
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RUBINSTEIN-TAYBI SYNDROME TYPE 1 180849
  • CREBBP intellectual disability without typical RTS features
Tags
Green Green List (high evidence)
CREBBP
3 reviews
1 green