Paediatric disorders (Version 4.288)

Relevant disorders: Acutely unwell children with a likely monogenic disorder, Congenital malformation and dysmorphism syndromes - microarray and sequencing, R14, R27
This panel contains these 11 panels:
Intellectual disability v2.1066
Inborn errors of metabolism v1.377
Skeletal dysplasia v1.203
DDG2P v1.141
Limb disorders v1.61
Clefting v1.59
Renal ciliopathies v1.0
Paediatric disorders - additional genes v0.33
Skeletal ciliopathies v0.15
Ophthalmological ciliopathies v0.11
Neurological ciliopathies v0.7
Panel types: GMS Rare Disease Virtual, Super Panel

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’ & ‘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’.

This panel is a super panel for the clinical indications ‘R14 Acutely unwell children with a likely monogenic disorder’ & ‘R27 Congenital malformation and dysmorphism syndromes – microarray and sequencing’. Changes made to this panel will automatically be updated in the relevant constituent panel(s).

The content of this panel is overseen by the NHS Genomic Medicine Service governance.

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

The constituent panels of this super panel are overseen by NHS Genomic Medicine Service governance. The constituent panel version, and date of sign off, can be viewed on each constituent panel page and are detailed below. Each constituent panel will continue to be curated. 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 for the GMS panels. Constituent panels that have been signed off are:
The Renal ciliopathies gene panel version 1.0 (https://panelapp.genomicsengland.co.uk/api/v1/panels/725/?version=1.0)

6453 Entities

5792 reviewed, 3842 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 6453 Entitiess
Green Green List (high evidence)	AAAS DDG2P v1.141	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 Intellectual disability v2.1066	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Achalasia-addisonianism-alacrimia syndrome 231550 Tags
Green Green List (high evidence)	AARS Intellectual disability v2.1066	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT. Tags new-gene-name
Green Green List (high evidence)	AARS2 Inborn errors of metabolism v1.377	2 reviews 1 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 Intellectual disability v2.1066	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HYPERLYSINEMIA Tags
Green Green List (high evidence)	AASS Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Intellectual disability Hyperlysinemia Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism) Tags
Green Green List (high evidence)	ABAT Inborn errors of metabolism v1.377	4 reviews 2 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 Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Tangier disease (Disorders of high density lipoprotein metabolism) Tags
Green Green List (high evidence)	ABCB11 DDG2P v1.141	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 Inborn errors of metabolism v1.377	0 reviews	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 Inborn errors of metabolism v1.377	0 reviews	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 Inborn errors of metabolism v1.377	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 Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) congenital cerebellar hypoplasia/atrophy (PMID: 26242992). Anemia, sideroblastic, with ataxia Disorders of iron homeostasis Tags
Green Green List (high evidence)	ABCB7 DDG2P v1.141	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 DDG2P v1.141	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 DDG2P v1.141	1 review	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)	ABCC9 Skeletal dysplasia v1.203	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 Intellectual disability v2.1066	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cardiomyopathy, dilated, 10, 608569 Atrial fibrillation, familial, 12, 614050 Hypertrichotic osteochondrodysplasia, 239850 CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA Tags
Green Green List (high evidence)	ABCD1 Inborn errors of metabolism v1.377	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources London North GLH NHS GMS Expert Review Green Phenotypes X-linked adrenoleukodystrophy (Disorders of peroxisomal alpha-, beta and omega-oxidation) Adrenoleukodystrophy 300100 Tags
Green Green List (high evidence)	ABCD1 Intellectual disability v2.1066	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 DDG2P v1.141	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 Intellectual disability v2.1066	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)	ABCD4 Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type Tags
Green Green List (high evidence)	ABCG5 Inborn errors of metabolism v1.377	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 Inborn errors of metabolism v1.377	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 Inborn errors of metabolism v1.377	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hereditary ataxia Posterior segment abnormalities Congenital hearing impairment (profound/severe) PHARC syndrome (Disorders of complex lipid synthesis) Tags
Green Green List (high evidence)	ABHD5 Intellectual disability v2.1066	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 Inborn errors of metabolism v1.377	0 reviews	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHANARIN-DORFMAN SYNDROME 275630 Tags
Green Green List (high evidence)	ABL1 Paediatric disorders - additional genes v0.33	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 Inborn errors of metabolism v1.377	0 reviews	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 Intellectual disability v2.1066	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes ACAD9 deficiency, 611126 ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY Tags
Green Green List (high evidence)	ACAD9 Inborn errors of metabolism v1.377	2 reviews 1 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 DDG2P v1.141	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)	ACADM Intellectual disability v2.1066	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 DDG2P v1.141	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 Inborn errors of metabolism v1.377	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red 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 Intellectual disability v2.1066	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of 201470 Tags
Green Green List (high evidence)	ACADS DDG2P v1.141	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 Inborn errors of metabolism v1.377	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of Tags
Green Green List (high evidence)	ACADSB Inborn errors of metabolism v1.377	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red 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 DDG2P v1.141	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 Inborn errors of metabolism v1.377	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red 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 Skeletal dysplasia v1.203	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 DDG2P v1.141	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 Inborn errors of metabolism v1.377	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red 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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALPHA-METHYLACETOACETIC ACIDURIA 203750 Tags
Green Green List (high evidence)	ACO2 Intellectual disability v2.1066	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes INFANTILE CEREBELLAR-RETINAL DEGENERATION Tags
Green Green List (high evidence)	ACO2 Inborn errors of metabolism v1.377	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Infantile cerebellar-retinal degeneration, 614559 Tags
Green Green List (high evidence)	ACOX1 Intellectual disability v2.1066	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)	ACOX1 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ADRENOLEUKODYSTROPHY PSEUDONEONATAL 264470 Tags
Green Green List (high evidence)	ACOX1 Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Peroxisomal acyl-CoA oxidase deficiency Peroxisomal acyl-CoA oxidase 1 deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) Tags
Green Green List (high evidence)	ACP5 Skeletal dysplasia v1.203	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 DDG2P v1.141	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 Inborn errors of metabolism v1.377	0 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 Intellectual disability v2.1066	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 Emory Genetics Laboratory Phenotypes Mental retardation, X-linked 63, 300387 ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS (ATS-MR) Tags
Green Green List (high evidence)	ACTA2 DDG2P v1.141	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 Clefting v1.59	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 Intellectual disability v2.1066	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 DDG2P v1.141	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)	ACTG1 DDG2P v1.141	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)	ACTG1 Intellectual disability v2.1066	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 Clefting v1.59	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)	ACTL6A Intellectual disability v2.1066	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
Green Green List (high evidence)	ACTL6B DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Unspecified Neurodevelopmental Disorder EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470 Tags
Green Green List (high evidence)	ACTL6B Intellectual disability v2.1066	5 reviews 1 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Global developmental delay Intellectual disability Tags
Green Green List (high evidence)	ACVR1 Skeletal dysplasia v1.203	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 Paediatric disorders - additional genes v0.33	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AMINOACYLASE-1 DEFICIENCY 609924 Tags
Green Green List (high evidence)	ACY1 Intellectual disability v2.1066	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 Inborn errors of metabolism v1.377	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 Inborn errors of metabolism v1.377	1 review 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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ADENOSINE DEAMINASE DEFICIENCY 102700 Tags
Green Green List (high evidence)	ADAMTS10 Skeletal dysplasia v1.203	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 Skeletal dysplasia v1.203	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 Skeletal dysplasia v1.203	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 Intellectual disability v2.1066	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)	ADAR DDG2P v1.141	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 Inborn errors of metabolism v1.377	0 reviews	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)	ADAT3 Intellectual disability v2.1066	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Phenotypes Mental retardation, autosomal recessive 36, 615286 MRT36 Tags
Green Green List (high evidence)	ADGRG1 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes POLYMICROGYRIA 606854 Tags
Green Green List (high evidence)	ADGRG1 Intellectual disability v2.1066	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)	ADGRG6 DDG2P v1.141	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 Intellectual disability v2.1066	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Hypermethioninemia due to adenosine kinase deficiency 614300 Tags
Green Green List (high evidence)	ADNP DDG2P v1.141	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)	ADNP Intellectual disability v2.1066	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28 MRD28 Tags
Green Green List (high evidence)	ADSL Inborn errors of metabolism v1.377	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 Intellectual disability v2.1066	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes ade(-)I bifunctional Adenylosuccinase deficiency, 103050 ADENYLOSUCCINASE DEFICIENCY (ADSL DEFICIENCY) Tags
Green Green List (high evidence)	ADSL DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ADENYLOSUCCINASE DEFICIENCY 103050 Tags
Green Green List (high evidence)	AFF2 Intellectual disability v2.1066	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 DDG2P v1.141	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 DDG2P v1.141	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 Intellectual disability v2.1066	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 Inborn errors of metabolism v1.377	3 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 Ataxia, spastic, 5, autosomal recessive, 614487 Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Spinocerebellar ataxia 28, 610246 Disorders of mitochondrial DNA maintenance and integrity Tags
Green Green List (high evidence)	AFG3L2 Intellectual disability v2.1066	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SPINOCEREBELLAR ATAXIA 28 Tags
Green Green List (high evidence)	AGA DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ASPARTYLGLUCOSAMINURIA 208400 Tags
Green Green List (high evidence)	AGA Intellectual disability v2.1066	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)	AGA Skeletal dysplasia v1.203	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert list Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory 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 Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Aspartylglucosaminuria Tags
Green Green List (high evidence)	AGK Inborn errors of metabolism v1.377	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SENGERS SYNDROME 212350 Tags
Green Green List (high evidence)	AGL DDG2P v1.141	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 Inborn errors of metabolism v1.377	0 reviews	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)	AGPS Intellectual disability v2.1066	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 (RCDP3) Tags
Green Green List (high evidence)	AGPS DDG2P v1.141	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 Inborn errors of metabolism v1.377	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 Skeletal dysplasia v1.203	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)	AGXT DDG2P v1.141	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 Inborn errors of metabolism v1.377	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)	AHDC1 Intellectual disability v2.1066	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 DDG2P v1.141	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 Neurological ciliopathies v0.7	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME 614615 Tags
Green Green List (high evidence)	AHI1 Intellectual disability v2.1066	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 Renal ciliopathies v1.0	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 Ophthalmological ciliopathies v0.11	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 Inborn errors of metabolism v1.377	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Disorders of mitochondrial apoptosis Cowchock syndrome, 310490 Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Combined oxidative phosphorylation deficiency 6, 300816 Tags
Green Green List (high evidence)	AIFM1 Intellectual disability v2.1066	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 Combined oxidative phosphorylation deficiency 6, 300816Cowchock syndrome, 310490 COWCHOCK SYNDROME Tags
Green Green List (high evidence)	AIMP1 Intellectual disability v2.1066	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 3, 260600 LEUKODYSTROPHY, HYPOMYELINATING, 3 Tags
Green Green List (high evidence)	AIPL1 DDG2P v1.141	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 DDG2P v1.141	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RETICULAR DYSGENESIS 267500 Tags
Green Green List (high evidence)	AKR1D1 DDG2P v1.141	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)	AKR1D1 Inborn errors of metabolism v1.377	0 reviews	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)	AKT1 DDG2P v1.141	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 Intellectual disability v2.1066	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes ACUTE HEPATIC PORPHYRIA 612740 Tags
Green Green List (high evidence)	ALAD Inborn errors of metabolism v1.377	0 reviews	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 Inborn errors of metabolism v1.377	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 Intellectual disability v2.1066	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)	ALDH18A1 DDG2P v1.141	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 Inborn errors of metabolism v1.377	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list London North GLH NHS GMS Expert Review Green Phenotypes Hypoprolinaemia, Cutis laxa, autosomal recessive, type IIIa (Disorders of ornithine or proline metabolism) Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150 Tags
Green Green List (high evidence)	ALDH1A3 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ANOPHTHALMIA/MICROPHTHALMIA Tags
Green Green List (high evidence)	ALDH3A2 Intellectual disability v2.1066	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Sjogren-Larsson syndrome, 270200 SJOEGREN-LARSSON SYNDROME (SLS) Tags
Green Green List (high evidence)	ALDH3A2 Inborn errors of metabolism v1.377	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Sj gren - Larsson syndrome (Other disorders of lipid and lipoprotein metabolism) Inherited white matter disorders Tags
Green Green List (high evidence)	ALDH3A2 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SJOEGREN-LARSSON SYNDROME 270200 Tags
Green Green List (high evidence)	ALDH4A1 Intellectual disability v2.1066	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 Inborn errors of metabolism v1.377	0 reviews	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)	ALDH4A1 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPERPROLINEMIA TYPE 2 239510 Tags
Green Green List (high evidence)	ALDH5A1 DDG2P v1.141	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 Intellectual disability v2.1066	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, 271980 SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Tags
Green Green List (high evidence)	ALDH5A1 Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Succinic semialdehyde dehydrogenase deficiency Tags
Green Green List (high evidence)	ALDH6A1 Inborn errors of metabolism v1.377	0 reviews	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 Intellectual disability v2.1066	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PYRIDOXINE-DEPENDENT EPILEPSY Tags
Green Green List (high evidence)	ALDH7A1 Inborn errors of metabolism v1.377	0 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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PYRIDOXINE-DEPENDENT EPILEPSY 266100 Tags
Green Green List (high evidence)	ALDOA DDG2P v1.141	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 Inborn errors of metabolism v1.377	0 reviews	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes HEREDITARY FRUCTOSE INTOLERANCE 229600 Tags
Green Green List (high evidence)	ALDOB Inborn errors of metabolism v1.377	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 Intellectual disability v2.1066	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)	ALG1 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALG1-CDG 300141 Tags
Green Green List (high evidence)	ALG1 Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ik 608540 Tags
Green Green List (high evidence)	ALG11 Intellectual disability v2.1066	4 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 watchlist
Green Green List (high evidence)	ALG11 Inborn errors of metabolism v1.377	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 Intellectual disability v2.1066	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G (CDG1G) Tags
Green Green List (high evidence)	ALG12 DDG2P v1.141	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 Skeletal dysplasia v1.203	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 Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ig 607143 Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation) Tags
Green Green List (high evidence)	ALG13 Intellectual disability v2.1066	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)	ALG3 Inborn errors of metabolism v1.377	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 Intellectual disability v2.1066	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)	ALG3 Skeletal dysplasia v1.203	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALG3-CDG 237128 Tags
Green Green List (high evidence)	ALG6 Intellectual disability v2.1066	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 Inborn errors of metabolism v1.377	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALG6-CDG 237124 Tags
Green Green List (high evidence)	ALG8 Intellectual disability v2.1066	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)	ALG8 Inborn errors of metabolism v1.377	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALG8-CDG 237145 Tags
Green Green List (high evidence)	ALG9 Skeletal dysplasia v1.203	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 Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation) ALG9-CDG (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Il 608776 Tags
Green Green List (high evidence)	ALKBH8 Intellectual disability v2.1066	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Expert Review Literature Phenotypes Global developmental delay Seizures Intellectual disability Tags
Green Green List (high evidence)	ALMS1 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALSTROM SYNDROME 203800 Tags
Green Green List (high evidence)	ALMS1 Intellectual disability v2.1066	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ALSTROM SYNDROME, 203800 Tags
Green Green List (high evidence)	ALMS1 Renal ciliopathies v1.0	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 Ophthalmological ciliopathies v0.11	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)	ALPL Inborn errors of metabolism v1.377	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOPHOSPHATASIA 241500 Tags
Green Green List (high evidence)	ALPL Skeletal dysplasia v1.203	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALS2-RELATED DISORDERS 240656 Tags
Green Green List (high evidence)	ALX1 DDG2P v1.141	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 Skeletal dysplasia v1.203	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Expert list UKGTN Phenotypes Frontonasal dysplasia 1 136760 (frontorhiny) Frontonasal dysplasia 1 136760 Tags
Green Green List (high evidence)	ALX3 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FRONTONASAL DYSPLASIA TYPE 1 136760 Tags
Green Green List (high evidence)	ALX4 Skeletal dysplasia v1.203	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 DDG2P v1.141	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 Inborn errors of metabolism v1.377	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 Intellectual disability v2.1066	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 Skeletal dysplasia v1.203	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 Radboud University Medical Center, Nijmegen Expert list Phenotypes Osteopathia striata with cranial sclerosis 300373 Osteopathia striata with cranial sclerosis 300373 Tags
Green Green List (high evidence)	AMER1 Clefting v1.59	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)	AMER1 DDG2P v1.141	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS 300373 Tags
Green Green List (high evidence)	AMN Inborn errors of metabolism v1.377	0 reviews	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 Intellectual disability v2.1066	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)	AMPD2 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PONTOCEREBELLAR HYPOPLASIA Tags
Green Green List (high evidence)	AMT Intellectual disability v2.1066	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 Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycine encephalopathy Tags
Green Green List (high evidence)	AMT DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLYCINE ENCEPHALOPATHY 605899 Tags
Green Green List (high evidence)	ANAPC1 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Rothmund-Thomson Syndrome Type 1 Tags
Green Green List (high evidence)	ANKH Skeletal dysplasia v1.203	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Phenotypes Chondrocalcinosis 2 118600 Craniometaphyseal dysplasia 123000 Tags
Green Green List (high evidence)	ANKH Intellectual disability v2.1066	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Craniometaphyseal dysplasia, 123000Chondrocalcinosis 2, 118600 CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE (CMDJ) Tags
Green Green List (high evidence)	ANKH DDG2P v1.141	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 Intellectual disability v2.1066	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 DDG2P v1.141	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 Clefting v1.59	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)	ANKRD11 Skeletal dysplasia v1.203	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)	ANKS6 Renal ciliopathies v1.0	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 Inborn errors of metabolism v1.377	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 Skeletal dysplasia v1.203	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Phenotypes Gnatodiaphyseal dysplasia Osteogenesis Imperfecta and Decreased Bone Density skeletal dysplasias skeletal dysplasias Disproportionate Short Stature Tags
Green Green List (high evidence)	ANO5 DDG2P v1.141	1 review	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)	ANTXR1 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GAPO SYNDROME Tags
Green Green List (high evidence)	ANTXR2 Skeletal dysplasia v1.203	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 Expert list Phenotypes Hyaline fibromatosis syndrome 228600 Tags
Green Green List (high evidence)	AP1S1 Intellectual disability v2.1066	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 DDG2P v1.141	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)	AP1S2 Intellectual disability v2.1066	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Mental retardation, X-linked syndromic, Fried type, 300630 MENTAL RETARDATION X-LINKED TYPE 59 (MRX59) Tags
Green Green List (high evidence)	AP2M1 Intellectual disability v2.1066	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 Intellectual disability v2.1066	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Hermansky-Pudlak syndrome 2 608233 Tags
Green Green List (high evidence)	AP3B2 Intellectual disability v2.1066	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 Intellectual disability v2.1066	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, 614066 CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5 Tags
Green Green List (high evidence)	AP4E1 DDG2P v1.141	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)	AP4E1 Intellectual disability v2.1066	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, 613744 CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4 Tags
Green Green List (high evidence)	AP4M1 Intellectual disability v2.1066	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 Intellectual disability v2.1066	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)	APOA1 Inborn errors of metabolism v1.377	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Corneal clouding, autosomal recessive Apolipoprotein A-I deficiency (Disorders of high density lipoprotein metabolism) ApoA-I and apoC-III deficiency, combined Amyloidosis, 3 or more types 105200 Hypoalphalipoproteinemia 604091 Tags
Green Green List (high evidence)	APOA5 Inborn errors of metabolism v1.377	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperchylomicronemia, late-onset 144650 Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias) {Hypertriglyceridemia, susceptibility to} 145750 Tags
Green Green List (high evidence)	APOB Inborn errors of metabolism v1.377	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypercholesterolemia, familial, 2 144010 Hypobetalipoproteinemia 615558 Tags
Green Green List (high evidence)	APOC2 Inborn errors of metabolism v1.377	0 reviews	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 Inborn errors of metabolism v1.377	0 reviews	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 Intellectual disability v2.1066	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX IV DEFICIENCY, 220110 Tags new-gene-name
Green Green List (high evidence)	APOPT1 Inborn errors of metabolism v1.377	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex IV deficiency, 220110 Isolated complex IV deficiency Tags new-gene-name
Green Green List (high evidence)	APOPT1 DDG2P v1.141	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)	APRT Inborn errors of metabolism v1.377	0 reviews	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 Inborn errors of metabolism v1.377	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 DDG2P v1.141	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 DDG2P v1.141	1 review	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 Intellectual disability v2.1066	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)	ARFGEF2 Intellectual disability v2.1066	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARGININEMIA 207800 Tags
Green Green List (high evidence)	ARG1 Intellectual disability v2.1066	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Argininemia, 207800 ARGININEMIA (ARGIN) Tags
Green Green List (high evidence)	ARG1 Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Argininaemia (Urea cycle disorders and inherited hyperammonaemias) Argininemia 207800 Tags
Green Green List (high evidence)	ARHGAP31 Clefting v1.59	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 Skeletal dysplasia v1.203	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Adams-Oliver syndrome 1 100300 Tags
Green Green List (high evidence)	ARHGAP31 Limb disorders v1.61	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 Intellectual disability v2.1066	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 Epileptic encephalopathy, early infantile, 8, 300607 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8 Tags
Green Green List (high evidence)	ARID1A DDG2P v1.141	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)	ARID1A Intellectual disability v2.1066	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal dominant 14, 614607 COFFIN-SIRIS SYNDROME CSS Tags
Green Green List (high evidence)	ARID1B DDG2P v1.141	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 Intellectual disability v2.1066	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 Intellectual disability v2.1066	5 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Expert Review Red Phenotypes Coffin-Siris syndrome-like phenotype Tags
Green Green List (high evidence)	ARL13B Renal ciliopathies v1.0	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 Ophthalmological ciliopathies v0.11	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 Neurological ciliopathies v0.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome 8 Tags
Green Green List (high evidence)	ARL13B Intellectual disability v2.1066	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Joubert syndrome 8, 612291 Intellectual disability Tags
Green Green List (high evidence)	ARL6 DDG2P v1.141	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)	ARL6 Ophthalmological ciliopathies v0.11	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 Intellectual disability v2.1066	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 Renal ciliopathies v1.0	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 Skeletal ciliopathies v0.15	3 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)	ARMC4 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CILIARY DYSKINESIA, PRIMARY, 23 615451 Tags
Green Green List (high evidence)	ARMC9 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Joubert syndrome 30 Tags
Green Green List (high evidence)	ARMC9 Ophthalmological ciliopathies v0.11	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)	ARMC9 Renal ciliopathies v1.0	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)	ARMC9 Neurological ciliopathies v0.7	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 Intellectual disability v2.1066	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome Intellectual Disability Tags
Green Green List (high evidence)	ARSA DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARYLSULFATASE A DEFICIENCY 250100 Tags
Green Green List (high evidence)	ARSA Intellectual disability v2.1066	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ARYLSULFATASE A DEFICIENCY Tags
Green Green List (high evidence)	ARSA Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Metachromatic leukodystrophy Tags
Green Green List (high evidence)	ARSB Intellectual disability v2.1066	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 6 (MPS6) Tags
Green Green List (high evidence)	ARSB DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 6 253200 Tags
Green Green List (high evidence)	ARSB Inborn errors of metabolism v1.377	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 Skeletal dysplasia v1.203	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Expert list Phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 Tags
Green Green List (high evidence)	ARSE Intellectual disability v2.1066	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 Limb disorders v1.61	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 Inborn errors of metabolism v1.377	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 DDG2P v1.141	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 Skeletal dysplasia v1.203	5 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Green UKGTN Radboud University Medical Center, Nijmegen 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 Intellectual disability v2.1066	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 DDG2P v1.141	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)	ARX Intellectual disability v2.1066	4 reviews 4 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Phenotypes Epileptic encephalopathy, early infantile, 1, 308350Lissencephaly, X-linked 2, 300215Mental retardation, X-linked 29 and others, 300419Proud syndrome, 300004Partington syndrome, 309510Hydranencephaly with abnormal genitalia, 300215 MENTAL RETARDATION X-LINKED ARX-RELATED (MRXARX) Tags nucleotide-repeat-expansion
Green Green List (high evidence)	ASAH1 Inborn errors of metabolism v1.377	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 Intellectual disability v2.1066	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes FARBER LIPOGRANULOMATOSIS Tags
Green Green List (high evidence)	ASAH1 DDG2P v1.141	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 Paediatric disorders - additional genes v0.33	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 Intellectual disability v2.1066	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARGININOSUCCINATE LYASE DEFICIENCY 207900 Tags
Green Green List (high evidence)	ASL Intellectual disability v2.1066	5 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Argininosuccinic aciduria 207900 Tags
Green Green List (high evidence)	ASL Inborn errors of metabolism v1.377	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 Intellectual disability v2.1066	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 Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Canavan disease Tags
Green Green List (high evidence)	ASPA Intellectual disability v2.1066	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CANAVAN DISEASE 271900 Tags
Green Green List (high evidence)	ASPM Intellectual disability v2.1066	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)	ASPM DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936 Tags
Green Green List (high evidence)	ASS1 Intellectual disability v2.1066	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CITRULLINEMIA TYPE I 615700 Tags
Green Green List (high evidence)	ASS1 Inborn errors of metabolism v1.377	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 Intellectual disability v2.1066	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 DDG2P v1.141	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 Clefting v1.59	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 Skeletal dysplasia v1.203	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Expert list Radboud University Medical Center, Nijmegen Phenotypes Bohring-Opitz syndrome 605039 Tags
Green Green List (high evidence)	ASXL2 Intellectual disability v2.1066	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 Skeletal dysplasia v1.203	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 Intellectual disability v2.1066	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes BAINBRIDGE-ROPERS SYNDROME BRPS Tags
Green Green List (high evidence)	ATAD3A DDG2P v1.141	1 review 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 watchlist
Green Green List (high evidence)	ATAD3A Intellectual disability v2.1066	2 reviews 2 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 Inborn errors of metabolism v1.377	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Harel-Yoon syndrome 617183 Tags
Green Green List (high evidence)	ATIC Intellectual disability v2.1066	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes AICA-ribosiduria due to ATIC deficiency, 608688 AICA-RIBOSURIA (AICAR) Tags
Green Green List (high evidence)	ATIC DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AICA-RIBOSURIA 608688 Tags
Green Green List (high evidence)	ATIC Inborn errors of metabolism v1.377	0 reviews	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)	ATL1 Intellectual disability v2.1066	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spastic paraplegia 3A, autosomal dominant, 182600 Hereditary spastic paraplegia Intellectual disability Tags
Green Green List (high evidence)	ATM DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATAXIA-TELANGIECTASIA 208900 Tags
Green Green List (high evidence)	ATM Intellectual disability v2.1066	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes ATAXIA-TELANGIECTASIA AT Tags
Green Green List (high evidence)	ATN1 Intellectual disability v2.1066	5 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Generalized hypotonia Global developmental delay Intellectual disability Seizures Feeding difficulties Abnormality of the cardiovascular system Cleft palate Abnormality of the kidney Tags
Green Green List (high evidence)	ATP13A2 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes PARKINSON DISEASE 9 606693 Tags
Green Green List (high evidence)	ATP13A2 Intellectual disability v2.1066	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PARKINSON DISEASE 9 Tags
Green Green List (high evidence)	ATP13A2 Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Kufor-Rakeb syndrome Tags
Green Green List (high evidence)	ATP1A1 Intellectual disability v2.1066	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)	ATP1A3 DDG2P v1.141	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 Inborn errors of metabolism v1.377	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, 618120 Tags
Green Green List (high evidence)	ATP6AP1 Inborn errors of metabolism v1.377	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 Intellectual disability v2.1066	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 Inborn errors of metabolism v1.377	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 Intellectual disability v2.1066	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Cutis laxa, autosomal recessive, type IIA 219200 Wrinkly skin syndrome 278250 Tags
Green Green List (high evidence)	ATP6V0A2 Skeletal dysplasia v1.203	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 Intellectual disability v2.1066	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Literature Phenotypes Epileptic encephalopathy, infantile or early childhood, 3 618012 Cutis laxa, autosomal recessive, type IID 617403 Tags
Green Green List (high evidence)	ATP6V1B1 DDG2P v1.141	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 Intellectual disability v2.1066	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes ZIMMERMANN-LABAND SYNDROME Tags
Green Green List (high evidence)	ATP7A DDG2P v1.141	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 Intellectual disability v2.1066	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 Inborn errors of metabolism v1.377	0 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 Skeletal dysplasia v1.203	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Green Expert list Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spinal muscular atrophy, distal, 300489 Menkes disease 309400 Occipital horn syndrome 304150 Tags
Green Green List (high evidence)	ATP7B Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Wilson disease Tags
Green Green List (high evidence)	ATP8A2 Intellectual disability v2.1066	5 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268 intellectual disability Tags
Green Green List (high evidence)	ATP8B1 Inborn errors of metabolism v1.377	0 reviews	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS 211600 Tags
Green Green List (high evidence)	ATPAF2 Inborn errors of metabolism v1.377	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 Intellectual disability v2.1066	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 DDG2P v1.141	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)	ATRX Intellectual disability v2.1066	4 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Alpha-thalassemia/mental retardation syndrome, 301040 Mental retardation-hypotonic facies syndrome, X-linked, 309580 Tags
Green Green List (high evidence)	AUH DDG2P v1.141	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 Intellectual disability v2.1066	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes 3-methylglutaconic aciduria, type I, 250950 3-METHYLGLUTACONIC ACIDURIA TYPE 1 Tags
Green Green List (high evidence)	AUH Inborn errors of metabolism v1.377	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)	AUTS2 Intellectual disability v2.1066	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 DDG2P v1.141	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 Intellectual disability v2.1066	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 Tags
Green Green List (high evidence)	B3GALNT2 Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 Tags
Green Green List (high evidence)	B3GALT6 Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ehlers-Danlos syndrome, progeroid type, 2 Tags
Green Green List (high evidence)	B3GALT6 Skeletal dysplasia v1.203	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 DDG2P v1.141	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 Inborn errors of metabolism v1.377	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 Skeletal dysplasia v1.203	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 Intellectual disability v2.1066	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 Inborn errors of metabolism v1.377	0 reviews	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 Clefting v1.59	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PETERS-PLUS SYNDROME Tags
Green Green List (high evidence)	B4GALNT1 Intellectual disability v2.1066	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Phenotypes ID Spastic paraplegia 26, autosomal recessive Tags
Green Green List (high evidence)	B4GALT1 Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Congenital disorder of glycosylation, type IId 607091 Tags
Green Green List (high evidence)	B4GALT7 Intellectual disability v2.1066	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)	B4GALT7 DDG2P v1.141	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 Skeletal dysplasia v1.203	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UKGTN Expert list 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 Inborn errors of metabolism v1.377	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)	B9D2 Neurological ciliopathies v0.7	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome Meckel syndrome 10, 614175 ciliopathies Meckel syndrome Tags
Green Green List (high evidence)	B9D2 Ophthalmological ciliopathies v0.11	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 Meckel syndrome 10, 614175 ciliopathies Meckel syndrome Tags
Green Green List (high evidence)	B9D2 Renal ciliopathies v1.0	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 Meckel syndrome 10, 614175 ciliopathies Meckel syndrome Tags
Green Green List (high evidence)	BAAT Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hypercholanemia, familial Tags
Green Green List (high evidence)	BBS1 Ophthalmological ciliopathies v0.11	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARDET-BIEDL SYNDROME TYPE 1 209900 Tags
Green Green List (high evidence)	BBS1 Intellectual disability v2.1066	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, 209900 BARDET-BIEDL SYNDROME TYPE 1 (BBS1) Tags
Green Green List (high evidence)	BBS1 Skeletal ciliopathies v0.15	3 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 Renal ciliopathies v1.0	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)	BBS10 DDG2P v1.141	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 Ophthalmological ciliopathies v0.11	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 Skeletal ciliopathies v0.15	3 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 Renal ciliopathies v1.0	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 Intellectual disability v2.1066	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bardet-Biedl syndrome 10, 209900 BARDET-BIEDL SYNDROME TYPE 10 (BBS10) Tags
Green Green List (high evidence)	BBS12 Intellectual disability v2.1066	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 DDG2P v1.141	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 Ophthalmological ciliopathies v0.11	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 Renal ciliopathies v1.0	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 Skeletal ciliopathies v0.15	3 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 DDG2P v1.141	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 Renal ciliopathies v1.0	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 Intellectual disability v2.1066	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 Ophthalmological ciliopathies v0.11	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 Skeletal ciliopathies v0.15	3 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)	BBS4 DDG2P v1.141	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 Skeletal ciliopathies v0.15	3 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 Renal ciliopathies v1.0	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 Ophthalmological ciliopathies v0.11	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 Intellectual disability v2.1066	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bardet-Biedl syndrome 4, 209900 BARDET-BIEDL SYNDROME TYPE 4 (BBS4) Tags
Green Green List (high evidence)	BBS5 DDG2P v1.141	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 Renal ciliopathies v1.0	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 Skeletal ciliopathies v0.15	3 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 Intellectual disability v2.1066	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 Ophthalmological ciliopathies v0.11	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)	BBS7 DDG2P v1.141	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 Renal ciliopathies v1.0	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 Intellectual disability v2.1066	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)	BBS7 Ophthalmological ciliopathies v0.11	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 Skeletal ciliopathies v0.15	3 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)	BBS9 DDG2P v1.141	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 Skeletal ciliopathies v0.15	3 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 Intellectual disability v2.1066	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 Ophthalmological ciliopathies v0.11	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 Renal ciliopathies v1.0	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)	BCAP31 DDG2P v1.141	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 Intellectual disability v2.1066	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)	BCKDHA Inborn errors of metabolism v1.377	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 Intellectual disability v2.1066	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Maple syrup urine disease, type Ia, 248600 MAPLE SYRUP URINE DISEASE Tags
Green Green List (high evidence)	BCKDHA DDG2P v1.141	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 Intellectual disability v2.1066	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 DDG2P v1.141	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 Inborn errors of metabolism v1.377	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 Intellectual disability v2.1066	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)	BCKDK Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Branched-chain ketoacid dehydrogenase kinase deficiency Tags
Green Green List (high evidence)	BCL11A Intellectual disability v2.1066	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 DDG2P v1.141	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 Intellectual disability v2.1066	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 DDG2P v1.141	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)	BCOR Intellectual disability v2.1066	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 Clefting v1.59	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)	BCS1L Inborn errors of metabolism v1.377	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 Intellectual disability v2.1066	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex III deficiency, nuclear type 1, 124000 Leigh syndrome, 256000 Bjornstad syndrome, 262000 Tags
Green Green List (high evidence)	BCS1L DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GRACILE SYNDROME 603358 Tags
Green Green List (high evidence)	BFSP2 DDG2P v1.141	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 DDG2P v1.141	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 Limb disorders v1.61	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 DDG2P v1.141	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)	BHLHA9 Skeletal dysplasia v1.203	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)	BICD2 DDG2P v1.141	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)	BIN1 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CENTRONUCLEAR MYOPATHY 2 255200 Tags
Green Green List (high evidence)	BLM Intellectual disability v2.1066	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)	BLM DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BLOOM SYNDROME 210900 Tags
Green Green List (high evidence)	BMP1 Skeletal dysplasia v1.203	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Osteogenesis imperfecta, type XIII, 614856 Tags
Green Green List (high evidence)	BMP2 Clefting v1.59	1 review 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)	BMP2 Skeletal dysplasia v1.203	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877. Brachydactyly, type A2 112600 {HFE hemochromatosis, modifier of} 235200 Tags
Green Green List (high evidence)	BMP2 Limb disorders v1.61	4 reviews 1 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)	BMP4 Intellectual disability v2.1066	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Microphthalmia, syndromic 6 607932 Global developmental delay Tags
Green Green List (high evidence)	BMP4 Limb disorders v1.61	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 DDG2P v1.141	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DIAPHANOSPONDYLODYSOSTOSIS 608022 Tags
Green Green List (high evidence)	BMPER Skeletal dysplasia v1.203	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Diaphanospondylodysostosis 608022 Tags
Green Green List (high evidence)	BMPR1B Skeletal dysplasia v1.203	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Brachydactyly, type A1, D 616849 Brachydactyly, type A2 112600 Acromesomelic dysplasia, Demirhan type 609441 Tags
Green Green List (high evidence)	BMPR1B Limb disorders v1.61	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, 609441 Brachydactyly, type A1, D 616849 Brachydactyly, type A2, 112600 Tags
Green Green List (high evidence)	BMPR1B DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRACHYDACTYLY TYPE A2 112600 Tags
Green Green List (high evidence)	BNC2 DDG2P v1.141	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 Inborn errors of metabolism v1.377	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366) Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple mitochondrial dysfunctions syndrome 2, 614299 Multiple Mitochondrial Dysfunctions Syndrome Disorders of iron homeostasis Tags
Green Green List (high evidence)	BOLA3 Intellectual disability v2.1066	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 Tags
Green Green List (high evidence)	BPTF Intellectual disability v2.1066	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 DDG2P v1.141	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)	BRAF Intellectual disability v2.1066	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Melanoma, malignant, somaticColorectal cancer, somaticAdenocarcinoma of lung, somatic, 211980Nonsmall cell lung cancer, somaticCardiofaciocutaneous syndrome, 115150Noonan syndrome 7, 613706LEOPARD syndrome 3, 613707 NOONAN SYNDROME TYPE 7 (NS7) Tags
Green Green List (high evidence)	BRAT1 Intellectual disability v2.1066	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes INTELLECTUAL DISABILITY 616579 Tags
Green Green List (high evidence)	BRCA2 DDG2P v1.141	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 Limb disorders v1.61	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group D1, 605724 Radial Ray abnormality Tags
Green Green List (high evidence)	BRD4 Intellectual disability v2.1066	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
Green Green List (high evidence)	BRF1 Intellectual disability v2.1066	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 DDG2P v1.141	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 Limb disorders v1.61	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Radial Ray abnormality Fanconi anemia, complementation group J, 609054 Tags
Green Green List (high evidence)	BRPF1 Intellectual disability v2.1066	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Intellectual developmental disorder with dysmorphic facies and ptosis 617333 Tags
Green Green List (high evidence)	BRPF1 DDG2P v1.141	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)	BRSK2 Intellectual disability v2.1066	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
Green Green List (high evidence)	BRWD3 DDG2P v1.141	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)	BRWD3 Intellectual disability v2.1066	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Mental Retardation, X-linked Mental retardation, X-linked 93, 300659 MENTAL RETARDATION X-LINKED TYPE 93 (MRX93) Tags
Green Green List (high evidence)	BSCL2 Intellectual disability v2.1066	5 reviews 2 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Encephalopathy, progressive, with or without lipodystrophy 615924 Lipodystrophy, congenital generalized, type 2 269700 Neuropathy, distal hereditary motor, type VA 600794 Silver spastic paraplegia syndrome 270685 Tags
Green Green List (high evidence)	BSND DDG2P v1.141	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 Intellectual disability v2.1066	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Biotinidase deficiency, 253260 BIOTINIDASE DEFICIENCY Tags
Green Green List (high evidence)	BTD DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BIOTINIDASE DEFICIENCY 253260 Tags
Green Green List (high evidence)	BTD Inborn errors of metabolism v1.377	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)	BUB1B Intellectual disability v2.1066	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 DDG2P v1.141	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes PRIMARY CILIARY DYSKINESIA Tags new-gene-name
Green Green List (high evidence)	C12orf4 Intellectual disability v2.1066	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 Intellectual disability v2.1066	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 Inborn errors of metabolism v1.377	2 reviews 1 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) Spastic paraplegia 55, autosomal recessive, 615035 Combined oxidative phosphorylation deficiency 7, 613559 Tags
Green Green List (high evidence)	C12orf65 Intellectual disability v2.1066	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 Tags
Green Green List (high evidence)	C12orf65 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 613559 Tags
Green Green List (high evidence)	C19orf12 Inborn errors of metabolism v1.377	6 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism) Neurodegeneration with brain iron accumulation 4, 614298 Mitochondrial Membrane Protein-Associated Neurodegeneration Tags
Green Green List (high evidence)	C19orf70 Inborn errors of metabolism v1.377	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 37, 618329 Tags
Green Green List (high evidence)	C1QBP Inborn errors of metabolism v1.377	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 DDG2P v1.141	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 Skeletal dysplasia v1.203	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 Ophthalmological ciliopathies v0.11	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
Green Green List (high evidence)	C21orf2 Skeletal ciliopathies v0.15	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
Green Green List (high evidence)	C2CD3 Skeletal dysplasia v1.203	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)	C2CD3 Neurological ciliopathies v0.7	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 Clefting v1.59	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes OROFACIODIGITAL SYNDROME XIV OFD14 Tags
Green Green List (high evidence)	C2CD3 Skeletal ciliopathies v0.15	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)	C2orf71 DDG2P v1.141	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 DDG2P v1.141	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 Clefting v1.59	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 Ophthalmological ciliopathies v0.11	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
Green Green List (high evidence)	C5orf42 Intellectual disability v2.1066	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)	C5orf42 Renal ciliopathies v1.0	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
Green Green List (high evidence)	C5orf42 DDG2P v1.141	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 Neurological ciliopathies v0.7	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
Green Green List (high evidence)	C8orf37 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONE-ROD DYSTROPHY 16 614500 Tags
Green Green List (high evidence)	CA2 Intellectual disability v2.1066	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)	CA2 Skeletal dysplasia v1.203	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 DDG2P v1.141	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)	CA5A Inborn errors of metabolism v1.377	1 review	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 Intellectual disability v2.1066	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)	CA8 DDG2P v1.141	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)	CACNA1A Intellectual disability v2.1066	5 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert Review Red Phenotypes Epileptic encephalopathy, early infantile, 42 617106 Episodic ataxia, type 2 108500 Migraine, familial hemiplegic, 1 141500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500 Spinocerebellar ataxia 6 183086 Tags
Green Green List (high evidence)	CACNA1B Intellectual disability v2.1066	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 DDG2P v1.141	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)	CACNA1C Intellectual disability v2.1066	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)	CACNA1D Intellectual disability v2.1066	5 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Red Phenotypes Primary aldosteronism, seizures, and neurologic abnormalities 615474 AD Sinoatrial node dysfunction and deafness 614896 AR Tags
Green Green List (high evidence)	CACNA1E DDG2P v1.141	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia Tags
Green Green List (high evidence)	CACNA1E Intellectual disability v2.1066	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Expert Review Phenotypes Global developmental delay Intellectual disability Seizures Dystonia Congenital contracture Macrocephaly Epileptic encephalopathy, early infantile, 69, 618285 Tags
Green Green List (high evidence)	CACNA1G Intellectual disability v2.1066	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)	CAD DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Uridine-responsive epileptic encephalopathy Tags
Green Green List (high evidence)	CAD Intellectual disability v2.1066	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Epileptic encephalopathy, early infantile, 50 - MIM 616457 Tags
Green Green List (high evidence)	CAMK2A Intellectual disability v2.1066	4 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Expert Review Red Phenotypes Intellectual disability Tags
Green Green List (high evidence)	CAMK2B Intellectual disability v2.1066	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 617799 Tags
Green Green List (high evidence)	CAMTA1 Intellectual disability v2.1066	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 Skeletal dysplasia v1.203	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)	CARS Intellectual disability v2.1066	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Expert Review Literature Phenotypes Brittle hair Fragile nails Microcephaly Neurodevelopmental delay Tags new-gene-name
Green Green List (high evidence)	CARS2 Inborn errors of metabolism v1.377	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 Intellectual disability v2.1066	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)	CASK DDG2P v1.141	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)	CASR Skeletal dysplasia v1.203	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 Inborn errors of metabolism v1.377	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 Intellectual disability v2.1066	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)	CBL DDG2P v1.141	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)	CBS Intellectual disability v2.1066	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 Inborn errors of metabolism v1.377	0 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 DDG2P v1.141	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 Intellectual disability v2.1066	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)	CC2D1A DDG2P v1.141	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)	CC2D2A Neurological ciliopathies v0.7	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 Skeletal dysplasia v1.203	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Phenotypes Meckel syndrome 6 612284 Tags
Green Green List (high evidence)	CC2D2A Clefting v1.59	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 DDG2P v1.141	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)	CC2D2A Renal ciliopathies v1.0	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 Intellectual disability v2.1066	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 Ophthalmological ciliopathies v0.11	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)	CCBE1 DDG2P v1.141	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 Intellectual disability v2.1066	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSKINESIA Tags
Green Green List (high evidence)	CCDC114 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSKINESIA Tags
Green Green List (high evidence)	CCDC115 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Disorder of Golgi homeostasis Tags
Green Green List (high evidence)	CCDC115 Inborn errors of metabolism v1.377	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 Intellectual disability v2.1066	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 DDG2P v1.141	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 DDG2P v1.141	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 Intellectual disability v2.1066	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
Green Green List (high evidence)	CCDC65 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSKINESIA Tags
Green Green List (high evidence)	CCDC8 Skeletal dysplasia v1.203	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 Intellectual disability v2.1066	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 Limb disorders v1.61	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)	CCND2 Intellectual disability v2.1066	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 DDG2P v1.141	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)	CCNO DDG2P v1.141	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 Intellectual disability v2.1066	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 Skeletal dysplasia v1.203	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 DDG2P v1.141	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 Intellectual disability v2.1066	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MEIER-GORLIN SYNDROME 5 Tags
Green Green List (high evidence)	CDC6 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MEIER-GORLIN SYNDROME 5 613805 Tags
Green Green List (high evidence)	CDH1 Clefting v1.59	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 DDG2P v1.141	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 Intellectual disability v2.1066	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert Review Green Literature Phenotypes Elsahy-Waters syndrome Tags
Green Green List (high evidence)	CDH15 Intellectual disability v2.1066	4 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal dominant 3, 612580 MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 3 (MRD3) Tags
Green Green List (high evidence)	CDH23 DDG2P v1.141	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 DDG2P v1.141	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 Skeletal dysplasia v1.203	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UKGTN Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280 Tags
Green Green List (high evidence)	CDK10 Intellectual disability v2.1066	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 DDG2P v1.141	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)	CDK13 Intellectual disability v2.1066	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)	CDK5RAP2 Intellectual disability v2.1066	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 DDG2P v1.141	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes SYNDROMIC INTELLECTUAL DISABILITY 612100 Tags
Green Green List (high evidence)	CDK8 Intellectual disability v2.1066	5 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Generalized hypotonia Feeding difficulties Global developmental delay Intellectual disability Behavioral abnormality Abnormality of cardiovascular system morphology Hearing impairment Abnormality of vision Anorectal anomaly Seizures Tags
Green Green List (high evidence)	CDKL5 DDG2P v1.141	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)	CDKL5 Intellectual disability v2.1066	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)	CDKN1C Skeletal dysplasia v1.203	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources NHS GMS Expert Review Green Expert list Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes IMAGE syndrome 614732 Tags
Green Green List (high evidence)	CDKN1C Clefting v1.59	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 DDG2P v1.141	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 Intellectual disability v2.1066	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)	CDON DDG2P v1.141	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)	CDT1 Skeletal dysplasia v1.203	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Expert list UKGTN Phenotypes Meier-Gorlin syndrome 4 613804 Tags
Green Green List (high evidence)	CDT1 DDG2P v1.141	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 Paediatric disorders - additional genes v0.33	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Literature Phenotypes anorectal malformation Tags
Green Green List (high evidence)	CENPF Ophthalmological ciliopathies v0.11	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 Neurological ciliopathies v0.7	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 Intellectual disability v2.1066	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 Renal ciliopathies v1.0	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 Skeletal ciliopathies v0.15	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)	CENPJ DDG2P v1.141	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 Intellectual disability v2.1066	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME 614615 Tags
Green Green List (high evidence)	CEP104 Neurological ciliopathies v0.7	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 Ophthalmological ciliopathies v0.11	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 Renal ciliopathies v1.0	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)	CEP120 Skeletal dysplasia v1.203	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UKGTN Expert list Phenotypes Joubert syndrome 213300 Short-rib thoracic dysplasia 13 with or without polydactyly 616300 Tags
Green Green List (high evidence)	CEP120 Skeletal ciliopathies v0.15	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 Intellectual disability v2.1066	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 DDG2P v1.141	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)	CEP152 Intellectual disability v2.1066	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)	CEP164 Ophthalmological ciliopathies v0.11	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 Renal ciliopathies v1.0	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 Skeletal dysplasia v1.203	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Expert list 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 Ophthalmological ciliopathies v0.11	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 DDG2P v1.141	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)	CEP290 Neurological ciliopathies v0.7	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 Intellectual disability v2.1066	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 Renal ciliopathies v1.0	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)	CEP41 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME 15 614464 Tags
Green Green List (high evidence)	CEP41 Neurological ciliopathies v0.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome 15 Tags
Green Green List (high evidence)	CEP41 Renal ciliopathies v1.0	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 Ophthalmological ciliopathies v0.11	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 Intellectual disability v2.1066	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)	CEP57 DDG2P v1.141	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)	CEP57 Intellectual disability v2.1066	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 Tags
Green Green List (high evidence)	CEP83 DDG2P v1.141	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 Renal ciliopathies v1.0	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 Intellectual disability v2.1066	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)	CFC1 Paediatric disorders - additional genes v0.33	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 DDG2P v1.141	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	CHAMP1 Intellectual disability v2.1066	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	CHCHD10 Inborn errors of metabolism v1.377	2 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 Intellectual disability v2.1066	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)	CHD2 DDG2P v1.141	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	CHD3 Intellectual disability v2.1066	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 DDG2P v1.141	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)	CHD4 Intellectual disability v2.1066	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Sifrim-Hitz-Weiss syndrome 617159 Tags
Green Green List (high evidence)	CHD7 DDG2P v1.141	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)	CHD7 Intellectual disability v2.1066	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 Clefting v1.59	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes CHARGE SYNDROME Tags
Green Green List (high evidence)	CHD8 Intellectual disability v2.1066	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 Inborn errors of metabolism v1.377	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Expert Review Green Phenotypes Choline kinase deficiency (Disorders of complex lipid synthesis) Muscular dystrophy, congenital, megaconial type, 602541 Tags
Green Green List (high evidence)	CHKB Intellectual disability v2.1066	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)	CHM DDG2P v1.141	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 Intellectual disability v2.1066	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Red Phenotypes Pontocerebellar hypoplasia, type 8 614961 Tags
Green Green List (high evidence)	CHRDL1 DDG2P v1.141	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)	CHRNA4 DDG2P v1.141	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 Clefting v1.59	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen 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)	CHRNG DDG2P v1.141	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)	CHST14 Clefting v1.59	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 Skeletal dysplasia v1.203	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UKGTN Expert list Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 601776 Tags
Green Green List (high evidence)	CHST14 DDG2P v1.141	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)	CHST14 Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 601776 CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	CHST3 Skeletal dysplasia v1.203	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 DDG2P v1.141	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)	CHST3 Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations 143095 CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	CHST6 Inborn errors of metabolism v1.377	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 Skeletal dysplasia v1.203	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Temtamy preaxial brachydactyly syndrome 605282 Tags
Green Green List (high evidence)	CHSY1 Limb disorders v1.61	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Temtamy preaxial brachydactyly syndrome 605282 Tags
Green Green List (high evidence)	CHSY1 Inborn errors of metabolism v1.377	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 DDG2P v1.141	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COCOON SYNDROME 613630 Tags
Green Green List (high evidence)	CIB2 DDG2P v1.141	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 Intellectual disability v2.1066	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 DDG2P v1.141	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 Inborn errors of metabolism v1.377	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 Intellectual disability v2.1066	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 Limb disorders v1.61	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 Intellectual disability v2.1066	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 DDG2P v1.141	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)	CLCN4 Intellectual disability v2.1066	5 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 Expert Review Red Phenotypes Mental retardation, X-linked 49-15 300114 Tags watchlist
Green Green List (high evidence)	CLCN5 Skeletal dysplasia v1.203	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 Skeletal dysplasia v1.203	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Osteopetrosis, autosomal recessive 4 611490 Osteopetrosis, autosomal dominant 2 166600 Tags
Green Green List (high evidence)	CLCN7 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CLCN7-RELATED OSTEOPETROSIS 611490 Tags
Green Green List (high evidence)	CLDN16 Inborn errors of metabolism v1.377	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 Inborn errors of metabolism v1.377	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 DDG2P v1.141	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 Intellectual disability v2.1066	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ceroid lipofuscinosis, neuronal, 3, 204200 NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 (CLN3) Tags
Green Green List (high evidence)	CLN3 Inborn errors of metabolism v1.377	0 reviews	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 DDG2P v1.141	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)	CLN5 Intellectual disability v2.1066	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ceroid lipofuscinosis, neuronal, 5, 256731 NEURONAL CEROID LIPOFUSCINOSIS TYPE 5 (CLN5) Tags
Green Green List (high evidence)	CLN5 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 5 256731 Tags
Green Green List (high evidence)	CLN5 Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 5, 256731 Tags
Green Green List (high evidence)	CLN6 Intellectual disability v2.1066	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)	CLN6 DDG2P v1.141	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 Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 6, 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 Tags
Green Green List (high evidence)	CLN8 Intellectual disability v2.1066	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 Inborn errors of metabolism v1.377	0 reviews	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 DDG2P v1.141	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 Intellectual disability v2.1066	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PONTOCEREBELLAR HYPOPLASIA, TYPE 10 Tags
Green Green List (high evidence)	CLPB DDG2P v1.141	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 Intellectual disability v2.1066	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA Tags
Green Green List (high evidence)	CLPB Inborn errors of metabolism v1.377	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3-methylglutaconic aciduria with the following: cataract, renal cysts and nephrocalcinosis cataract, neutropenia, epilepsy congenital microcephaly and severe encephalopathy progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder Tags
Green Green List (high evidence)	CLPP Inborn errors of metabolism v1.377	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Perrault syndrome 3, 614129 Tags
Green Green List (high evidence)	CLTC Intellectual disability v2.1066	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Expert Review Green Expert Review Green Phenotypes Mental retardation, autosomal dominant 56, 617854 Autosomal dominant non-syndromic intellectual disability, Epilepsy and intellectual disability Tags
Green Green List (high evidence)	CNKSR2 Intellectual disability v2.1066	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 Inborn errors of metabolism v1.377	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism) Hypomagnesemia 6, renal 613882 Hypomagnesemia, seizures, and mental retardation 616418 Tags
Green Green List (high evidence)	CNNM2 Intellectual disability v2.1066	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)	CNOT1 Intellectual disability v2.1066	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)	CNOT3 DDG2P v1.141	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CNOT3 syndrome Tags
Green Green List (high evidence)	CNOT3 Intellectual disability v2.1066	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes CNOT3 syndrome intellectual disability, global developmental delay Tags
Green Green List (high evidence)	CNTNAP2 DDG2P v1.141	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)	CNTNAP2 Intellectual disability v2.1066	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Cortical dysplasia-focal epilepsy syndrome, 610042{Autism susceptibility 15}, 612100Pitt-Hopkins like syndrome 1, 610042 CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME (CDFES) Tags
Green Green List (high evidence)	COA6 Inborn errors of metabolism v1.377	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 Inborn errors of metabolism v1.377	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Tags
Green Green List (high evidence)	COASY DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURODEGENERATION WITH BRAIN IRON ACCUMULATION Tags
Green Green List (high evidence)	COASY Intellectual disability v2.1066	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)	COG1 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COG1-CDG 300197 Tags
Green Green List (high evidence)	COG1 Intellectual disability v2.1066	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Congenital disorder of glycosylation, type IIg, 611209 COG1-CDG (CDG-IIG) Tags
Green Green List (high evidence)	COG1 Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) Congenital disorder of glycosylation, type IIg 611209 Tags
Green Green List (high evidence)	COG4 Intellectual disability v2.1066	3 reviews 1 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 DDG2P v1.141	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 Inborn errors of metabolism v1.377	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 Intellectual disability v2.1066	5 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Expert Review Red Phenotypes Congenital disorder of glycosylation, type III, 613612 COG5-CDG CDG-III Tags
Green Green List (high evidence)	COG5 Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIi 613612 Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) Tags
Green Green List (high evidence)	COG6 Intellectual disability v2.1066	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 Inborn errors of metabolism v1.377	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 Intellectual disability v2.1066	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)	COG7 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COG7-CDG 300171 Tags
Green Green List (high evidence)	COG7 Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) Congenital disorder of glycosylation, type IIe 608779 Tags
Green Green List (high evidence)	COG8 Intellectual disability v2.1066	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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COG8-CDG 300204 Tags
Green Green List (high evidence)	COG8 Inborn errors of metabolism v1.377	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 Skeletal dysplasia v1.203	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 DDG2P v1.141	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 Clefting v1.59	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Eligibility statement prior genetic testing UKGTN Phenotypes Orofacial Clefting with skeletal features Stickler Syndrome Cleft palate Tags
Green Green List (high evidence)	COL11A1 DDG2P v1.141	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 Skeletal dysplasia v1.203	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 604841 Marshall syndrome 154780 Fibrochondrogenesis 1 228520 Tags
Green Green List (high evidence)	COL11A2 Clefting v1.59	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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 DDG2P v1.141	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 Skeletal dysplasia v1.203	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN 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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KNOBLOCH SYNDROME TYPE I 267750 Tags
Green Green List (high evidence)	COL1A1 Skeletal dysplasia v1.203	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Emory Genetics Laboratory UKGTN Eligibility statement prior genetic testing Illumina TruGenome Clinical Sequencing Services Expert Radboud University Medical Center, Nijmegen 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 DDG2P v1.141	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 Skeletal dysplasia v1.203	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 Eligibility statement prior genetic testing UKGTN Expert Emory Genetics Laboratory Phenotypes Ehlers-Danlos syndrome, cardiac valvular form 225320 Ehlers-Danlos syndrome, type VIIB 130060 Osteogenesis imperfecta, type II 166210 Osteogenesis imperfecta, type III 259420 Osteogenesis imperfecta, type IV 166220 Tags
Green Green List (high evidence)	COL2A1 Clefting v1.59	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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)	COL2A1 Skeletal dysplasia v1.203	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 DDG2P v1.141	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 Limb disorders v1.61	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)	COL4A1 Intellectual disability v2.1066	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)	COL4A1 DDG2P v1.141	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)	COL4A2 Intellectual disability v2.1066	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 DDG2P v1.141	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 DDG2P v1.141	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 Intellectual disability v2.1066	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)	COL4A3BP DDG2P v1.141	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)	COL4A4 DDG2P v1.141	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 DDG2P v1.141	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COL6A1 associated myopathy Tags
Green Green List (high evidence)	COL6A3 DDG2P v1.141	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 Clefting v1.59	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 (ophthalmological: myopia, retinal detachment and cataracts, orofacial: micrognathia, midface hypoplasia and cleft palate, auditory:sensorineural hearing loss and articular: epiphyseal dysplasia) symptoms Autosomal recessive Stickler syndrome Orofacial Clefting with skeletal features Cleft palate Tags
Green Green List (high evidence)	COL9A1 Skeletal dysplasia v1.203	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Expert Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Stickler syndrome, type IV 614134 Epiphyseal dysplasia, multiple, 6 614135 Tags
Green Green List (high evidence)	COL9A1 DDG2P v1.141	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)	COL9A2 Skeletal dysplasia v1.203	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Epiphyseal dysplasia, multiple, 2 600204 Stickler syndrome, type V 614284 Stickler syndrome, type V, 614284 {Intervertebral disc disease, susceptibility to}, 603932 Tags
Green Green List (high evidence)	COL9A2 DDG2P v1.141	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 DDG2P v1.141	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 Skeletal dysplasia v1.203	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert Review Expert Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes MED multiple epiphyseal dysplasia Epiphyseal dysplasia, multiple, with myopathy Stickler syndrome type VI multiple epiphyseal dysplasia 3, with or without myopathy - 600969 Multiple Epiphyseal Dysplasia, Dominant Mutiple Epiphyseal Dysplasia Tags
Green Green List (high evidence)	COLEC10 Clefting v1.59	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3MC SYNDROME 3 3MC3 Tags
Green Green List (high evidence)	COLEC11 Skeletal dysplasia v1.203	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 Intellectual disability v2.1066	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)	COLEC11 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3MC SYNDROME 2 265050 Tags
Green Green List (high evidence)	COLEC11 Clefting v1.59	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3MC SYNDROME 2 3MC2 Tags
Green Green List (high evidence)	COMP DDG2P v1.141	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400 ARE THE CAUSE OF PSEUDOACHONDROPLASIA 177170 Tags
Green Green List (high evidence)	COMP Skeletal dysplasia v1.203	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert Emory Genetics Laboratory Eligibility statement prior genetic testing Illumina TruGenome Clinical Sequencing Services Phenotypes Epiphyseal dysplasia, multiple, 1 132400 Pseudoachondroplasia 177170 Tags nucleotide-repeat-expansion
Green Green List (high evidence)	COQ2 Inborn errors of metabolism v1.377	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes {Multiple system atrophy, susceptibility to}, 146500 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, 1, 607426 Tags
Green Green List (high evidence)	COQ2 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COENZYME Q10 DEFICIENCY 607426 Tags
Green Green List (high evidence)	COQ4 Intellectual disability v2.1066	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes COENZYME Q10 DEFICIENCY, PRIMARY, 7 Tags
Green Green List (high evidence)	COQ4 Inborn errors of metabolism v1.377	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)	COQ6 Inborn errors of metabolism v1.377	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 Inborn errors of metabolism v1.377	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 Intellectual disability v2.1066	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Coenzyme Q10 deficiency, primary, 4, 612016 COENZYME Q10 DEFICIENCY Tags
Green Green List (high evidence)	COQ8A Inborn errors of metabolism v1.377	3 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 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COENZYME Q10 DEFICIENCY 607426 Tags
Green Green List (high evidence)	COQ8B Inborn errors of metabolism v1.377	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 9 Tags
Green Green List (high evidence)	COQ9 Inborn errors of metabolism v1.377	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 5, 614654 Coenzyme Q10 deficiency Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis Tags
Green Green List (high evidence)	COQ9 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COENZYME Q10 DEFICIENCY 607426 Tags
Green Green List (high evidence)	COX10 Intellectual disability v2.1066	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes LEIGH SYNDROME (LS) Tags
Green Green List (high evidence)	COX10 Inborn errors of metabolism v1.377	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 DDG2P v1.141	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)	COX14 Inborn errors of metabolism v1.377	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 Intellectual disability v2.1066	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)	COX15 DDG2P v1.141	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 Inborn errors of metabolism v1.377	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)	COX20 Inborn errors of metabolism v1.377	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 Inborn errors of metabolism v1.377	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 Intellectual disability v2.1066	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX IV DEFICIENCY (MT-C4D) Tags
Green Green List (high evidence)	COX6B1 Inborn errors of metabolism v1.377	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial Diseases Mitochondrial Respiratory Chain Complex IV Deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex IV deficiency Cytochrome c oxidase deficiency, 220110 Tags
Green Green List (high evidence)	COX6B1 DDG2P v1.141	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 DDG2P v1.141	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 Inborn errors of metabolism v1.377	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 Inborn errors of metabolism v1.377	0 reviews	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)	CPOX Inborn errors of metabolism v1.377	0 reviews	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 Intellectual disability v2.1066	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)	CPS1 Inborn errors of metabolism v1.377	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 DDG2P v1.141	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)	CPT1A Inborn errors of metabolism v1.377	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red 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 Inborn errors of metabolism v1.377	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes CPT deficiency, hepatic, type II 600649 CPT II deficiency, lethal neonatal 608836 Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle) Tags
Green Green List (high evidence)	CRADD Intellectual disability v2.1066	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Expert Review Red Phenotypes Mental retardation, autosomal recessive 34, with variant lissencephaly 614499 Tags
Green Green List (high evidence)	CRB1 DDG2P v1.141	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 Neurological ciliopathies v0.7	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 DDG2P v1.141	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 Intellectual disability v2.1066	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 Renal ciliopathies v1.0	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)	CREBBP DDG2P v1.141	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 Intellectual disability v2.1066	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Rubinstein-Taybi syndrome, 180849 RUBINSTEIN-TAYBI SYNDROME TYPE 1 (RSTS1) Tags
Green Green List (high evidence)	CREBBP Skeletal dysplasia v1.203	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Expert list UKGTN Emory Genetics Laboratory Phenotypes Rubinstein-Taybi syndrome 180849 Rubinstein-Taybi syndrome 180849 Tags
Green Green List (high evidence)	CRTAP Skeletal dysplasia v1.203	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Expert Radboud University Medical Center, Nijmegen Phenotypes Osteogenesis imperfecta, type VII 610682 Tags
Green Green List (high evidence)	CRX DDG2P v1.141	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7 613829 Tags
Green Green List (high evidence)	CRYAA DDG2P v1.141	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT, NUCLEAR 123580 CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 604219 Tags
Green Green List (high evidence)	CRYBA1 DDG2P v1.141	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES 600881 Tags
Green Green List (high evidence)	CRYBA4 DDG2P v1.141	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes CATARACT ZONULAR TYPE 2 610425 MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4 610426 Tags watchlist
Green Green List (high evidence)	CRYBB1 DDG2P v1.141	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 611544 Tags
Green Green List (high evidence)	CRYBB2 DDG2P v1.141	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT, CONGENITAL, CERULEAN TYPE, 2 601547 CATARACT, COPPOCK-LIKE 604307 Tags
Green Green List (high evidence)	CRYBB3 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 609741 Tags
Green Green List (high evidence)	CRYGC DDG2P v1.141	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes CATARACT AUTOSOMAL DOMINANT 604219 CATARACT COPPOCK-LIKE 604307 Tags watchlist
Green Green List (high evidence)	CRYGD DDG2P v1.141	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes CATARACT CONGENITAL CERULEAN TYPE 3 115700 CATARACT AUTOSOMAL DOMINANT 604219 CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT 123690 CATARACT CRYSTALLINE ACULEIFORM 115700 Tags watchlist
Green Green List (high evidence)	CSF1R DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS 618476 Tags
Green Green List (high evidence)	CSNK2A1 DDG2P v1.141	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CSNK2A1 syndrome Tags
Green Green List (high evidence)	CSNK2A1 Intellectual disability v2.1066	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Other Phenotypes Okur-Chung neurodevelopmental syndrome Tags watchlist
Green Green List (high evidence)	CSNK2B Intellectual disability v2.1066	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Intellectual disability with or without myoclonic epilepsy Tags
Green Green List (high evidence)	CSPP1 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY Tags
Green Green List (high evidence)	CSPP1 Neurological ciliopathies v0.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome Meckel syndrome Joubert syndrome 21 Meckel-Gruber syndrome Tags
Green Green List (high evidence)	CSPP1 Skeletal dysplasia v1.203	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Other Phenotypes Joubert syndrome 21 615636 ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy Joubert syndrome 21 615636 ORPHA:475 Joubert syndrome ORPHA:564 Meckel syndrome ORPHA:475 Joubert syndrome ORPHA:564 Meckel syndrome Tags
Green Green List (high evidence)	CSPP1 Intellectual disability v2.1066	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY Tags
Green Green List (high evidence)	CSPP1 Renal ciliopathies v1.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Expert Review Green Expert list Other Phenotypes Joubert syndrome Meckel syndrome Joubert syndrome 21 Meckel-Gruber syndrome Tags
Green Green List (high evidence)	CSPP1 Ophthalmological ciliopathies v0.11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Expert Review Green Expert list Other Phenotypes Joubert syndrome Meckel syndrome Joubert syndrome 21 Meckel-Gruber syndrome Tags
Green Green List (high evidence)	CSTB DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes UNVERRICHT-LUNDBORG DISEASE 254800 Tags
Green Green List (high evidence)	CSTB Intellectual disability v2.1066	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes UNVERRICHT-LUNDBORG DISEASE Tags nucleotide-repeat-expansion
Green Green List (high evidence)	CTBP1 Intellectual disability v2.1066	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 Tags missense
Green Green List (high evidence)	CTC1 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 612199 Tags
Green Green List (high evidence)	CTC1 Intellectual disability v2.1066	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS Tags
Green Green List (high evidence)	CTCF Clefting v1.59	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 MRD21 Tags
Green Green List (high evidence)	CTCF Intellectual disability v2.1066	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	CTCF DDG2P v1.141	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	CTDP1 Intellectual disability v2.1066	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, 604168 CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME (CCFDN) Tags watchlist
Green Green List (high evidence)	CTDP1 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME 604168 Tags
Green Green List (high evidence)	CTH Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cystathioninuria, 219500 Tags
Green Green List (high evidence)	CTNNA2 Intellectual disability v2.1066	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 9, 618174 intellectual disability global developmental delay Tags
Green Green List (high evidence)	CTNNB1 DDG2P v1.141	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 615075 Tags
Green Green List (high evidence)	CTNNB1 Intellectual disability v2.1066	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal dominant 19, 615075Colorectal cancer, somatic, 114500Pilomatricoma, somatic, 132600Ovarian cancer, somatic, 167000Hepatocellular carcinoma, somatic, 114550 MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 Tags
Green Green List (high evidence)	CTNND1 Clefting v1.59	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes BLEPHAROCHEILODONTIC Cleft palate Tags
Green Green List (high evidence)	CTNS Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cystinosis, atypical nephropathic Tags
Green Green List (high evidence)	CTNS DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE 219750 CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE 219900 CYSTINOSIS NEPHROPATHIC TYPE 219800 Tags
Green Green List (high evidence)	CTSA Intellectual disability v2.1066	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Galactosialidosis, 256540 GALACTOSIALIDOSIS (GSL) Tags
Green Green List (high evidence)	CTSA DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GALACTOSIALIDOSIS 256540 Tags
Green Green List (high evidence)	CTSA Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Galactosialidosis Tags
Green Green List (high evidence)	CTSA Skeletal dysplasia v1.203	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Expert list Radboud University Medical Center, Nijmegen Phenotypes Galactosialidosis 256540 Tags
Green Green List (high evidence)	CTSC Inborn errors of metabolism v1.377	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Haim-Munk syndrome 245010 Papillon-Lefevre syndrome 245000 Periodontitis 1, juvenile 170650 Tags
Green Green List (high evidence)	CTSC Skeletal dysplasia v1.203	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Expert list Illumina TruGenome Clinical Sequencing Services Phenotypes Haim-Munk syndrome 245010, Haim-Munk syndrome 245010 Tags
Green Green List (high evidence)	CTSD Intellectual disability v2.1066	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ceroid lipofuscinosis, neuronal, 10, 610127 NEURONAL CEROID LIPOFUSCINOSIS TYPE 10 (CLN10) Tags
Green Green List (high evidence)	CTSD DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 10 610127 Tags
Green Green List (high evidence)	CTSD Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 10, 610127 Tags
Green Green List (high evidence)	CTSK DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PYCNODYSOSTOSIS 265800 Tags
Green Green List (high evidence)	CTSK Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Pycnodysostosis Tags
Green Green List (high evidence)	CTSK Skeletal dysplasia v1.203	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Expert list Emory Genetics Laboratory Phenotypes Pycnodysostosis 265800 Tags
Green Green List (high evidence)	CUBN Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism) Megaloblastic anemia-1, Finnish type Proteinuric renal disease Unexplained kidney failure in young people Tags
Green Green List (high evidence)	CUL4B Intellectual disability v2.1066	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE (MRXC) Tags
Green Green List (high evidence)	CUL4B DDG2P v1.141	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE 300354 Tags
Green Green List (high evidence)	CUL7 Skeletal dysplasia v1.203	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes 3-M syndrome 1 273750 Tags
Green Green List (high evidence)	CUL7 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3-M SYNDROME 1 273750 Tags
Green Green List (high evidence)	CUX1 Intellectual disability v2.1066	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Expert Review Radboud University Medical Center, Nijmegen Literature Phenotypes Global developmental delay with or without impaired intellectual development, 618330 Tags
Green Green List (high evidence)	CUX2 Intellectual disability v2.1066	6 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 67, 618141 Seizures Intellectual disability Autistic behavior Tags
Green Green List (high evidence)	CWC27 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Retinitis pigmentosa, skeletal anomalies and intellectual disability Tags
Green Green List (high evidence)	CWC27 Intellectual disability v2.1066	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Retinitis pigmentosa with or without skeletal anomalies, 250410 Tags
Green Green List (high evidence)	CWF19L1 Intellectual disability v2.1066	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 17, 616127 intellectual disability, developmental delay Tags
Green Green List (high evidence)	CYB5R3 Intellectual disability v2.1066	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Methemoglobinemia, type I, 250800Methemoglobinemia, type II, 250800 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE Tags
Green Green List (high evidence)	CYC1 Inborn errors of metabolism v1.377	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Isolated complex III deficiency Mitochondrial complex III deficiency, nuclear type 6, 615453 Tags
Green Green List (high evidence)	CYC1 Intellectual disability v2.1066	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 MC3DN6 Tags
Green Green List (high evidence)	CYC1 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 615453 Tags
Green Green List (high evidence)	CYFIP2 Intellectual disability v2.1066	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Expert Review Literature Phenotypes Epileptic encephalopathy, early infantile, 65, 618008 Epileptic encephalopathy, early infantile 65, 618008 Tags
Green Green List (high evidence)	CYP1B1 DDG2P v1.141	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300 Tags
Green Green List (high evidence)	CYP27A1 Inborn errors of metabolism v1.377	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cerebrotendinous xanthomatosis, 213700 Tags
Green Green List (high evidence)	CYP27B1 Skeletal dysplasia v1.203	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Vitamin D-dependent rickets, type I 264700 Tags
Green Green List (high evidence)	CYP2U1 Intellectual disability v2.1066	4 reviews

Paediatric disorders (Version 4.288)

6453 Entities

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3 reviews

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5 reviews

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