The latest signed off version for the GMS is v44.4. The current version, shown here, may differ from the signed-off version.

Hypotonic infant (Version 44.502)

Level 2: Developmental disorders

Relevant disorders: Floppy infant with a likely central cause, Hypotonic infant with a likely central cause, R69
This panel contains these 9 panels:
Intellectual disability v9.288
Likely inborn error of metabolism v8.92
Congenital myopathy v6.45
Distal myopathies v6.16
Congenital muscular dystrophy v6.8
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29
Rhabdomyolysis and metabolic muscle disorders v5.14
Congenital myaesthenic syndrome v5.7
Paediatric motor neuronopathies v3.12
Panel types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
Latest signed off version: v44.4 (30 Apr 2025)
Previously signed off versions: v38.7, v33.7, v29.1, v25.1, v18.1, v9.41

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 'R69 Hypotonic infant' 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 'R69 Hypotonic infant'.

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

The constituent panels will continue to be curated based on external reviews and Genomics England curation. New changes to constituent panels will be reflected in an increase to the minor version of the panel and details of these can be viewed on each constituent panel 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process.  The content that is agreed for the GMS panels will be reflected in an updated signed off version number. 

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

This comprised of:
-Intellectual disability, version 9.0 (https://panelapp.genomicsengland.co.uk/api/v1/panels/285/?version=9.0)
-Congenital muscular dystrophy, version 6.0
(https://panelapp.genomicsengland.co.uk/api/v1/panels/207/?version=6.0) 
-Congenital myopathy, version 6.0
(https://panelapp.genomicsengland.co.uk/api/v1/panels/225/?version=6.0)
-Congenital myaesthenic syndrome, version 5.0
(https://panelapp.genomicsengland.co.uk/api/v1/panels/232/?version=5.0)
-Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies, version 5.0
(https://panelapp.genomicsengland.co.uk/api/v1/panels/185/?version=5.0)
-Likely inborn error of metabolism, version 8.0
(https://panelapp.genomicsengland.co.uk/api/v1/panels/467/?version=8.0)
-Rhabdomyolysis and metabolic muscle disorders, version 5.4
(https://panelapp.genomicsengland.co.uk/api/v1/panels/66/?version=5.4)
-Paediatric motor neuronopathies, version 3.9
(https://panelapp.genomicsengland.co.uk/api/v1/panels/79/?version=3.9)
-Distal myopathies, version 6.4
(https://panelapp.genomicsengland.co.uk/api/v1/panels/235/?version=6.4)

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

4375 Entities

4172 reviewed, 2631 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 4375 Entitiess
Green List (high evidence)	AAAS Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Achalasia-addisonianism-alacrimia syndrome, OMIM:231550 Triple-A syndrome, MONDO:0009279 Tags
Green List (high evidence)	AARS Intellectual disability v9.288	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Developmental and epileptic encephalopathy 29, OMIM:616339 Developmental and epileptic encephalopathy, 29, MONDO:0014593 Tags new-gene-name
Green List (high evidence)	AARS2 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 8, 614096 infantile mitochondrial cardiomyopathy Tags
Green List (high evidence)	AASS Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperlysinemia, OMIM:238700 Hyperlysinemia (disease), MONDO:0009388 Tags
Green List (high evidence)	AASS Likely inborn error of metabolism v8.92	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperlysinemia, OMIM:238700 Hyperlysinemia (disease), MONDO:0009388 Tags
Green List (high evidence)	ABAT Intellectual disability v9.288	6 reviews 4 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes GABA-transaminase deficiency, 613163 developmental delay Tags
Green List (high evidence)	ABAT Likely inborn error of metabolism v8.92	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes 613163 GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate) mtDNA depletion syndrome Tags
Green List (high evidence)	ABCA1 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Tangier disease (Disorders of high density lipoprotein metabolism) Tags
Green List (high evidence)	ABCA2 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with poor growth and with or without seizures or ataxia, OMIM:618808 Intellectual developmental disorder with poor growth and with or without seizures or ataxia, MONDO:0032930 Tags
Green List (high evidence)	ABCB11 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Progressive familial intrahepatic cholestasis type 2 (Disorders of bile acid metabolism and transport) Cholestasis, benign recurrent intrahepatic, 2 605479 Cholestasis, progressive familial intrahepatic 2 601847 Tags
Green List (high evidence)	ABCB4 Likely inborn error of metabolism v8.92	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Gallbladder disease 1 600803 AD, AR Cholestasis, progressive familial intrahepatic 3 602347 AR Progressive familial intrahepatic cholestasis type 3 (Disorders of bile acid metabolism and transport) Cholestasis, intrahepatic, of pregnancy, 3 614972 AD, AR Tags
Green List (high evidence)	ABCB7 Likely inborn error of metabolism v8.92	5 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Anemia, sideroblastic, with ataxia OMIM:301310 X-linked sideroblastic anemia with ataxia MONDO:0010524 Tags
Green List (high evidence)	ABCC9 Intellectual disability v9.288	10 reviews 4 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Intellectual disability and myopathy syndrome, OMIM:619719 intellectual disability and myopathy syndrome, MONDO:0859224 Tags
Green List (high evidence)	ABCD1 Likely inborn error of metabolism v8.92	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources London North GLH NHS GMS Expert Review Green Phenotypes Adrenoleukodystrophy, OMIM:300100 Adrenoleukodystrophy, adult, OMIM:300100 Tags
Green List (high evidence)	ABCD1 Intellectual disability v9.288	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, OMIM:300100 Adrenoleukodystrophy, adult, OMIM:300100 Tags gene-therapy-trial
Green List (high evidence)	ABCD4 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type Tags
Green List (high evidence)	ABCD4 Intellectual disability v9.288	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 List (high evidence)	ABCG5 Likely inborn error of metabolism v8.92	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 List (high evidence)	ABCG8 Likely inborn error of metabolism v8.92	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 List (high evidence)	ABHD12 Likely inborn error of metabolism v8.92	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 List (high evidence)	ABHD16A Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia Intellectual disability Tags
Green List (high evidence)	ABHD5 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Chanarin-Dorfman syndrome, OMIM:275630 Tags
Green List (high evidence)	ABHD5 Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Chanarin-Dorfman syndrome, OMIM:275630 Tags
Green List (high evidence)	ABHD5 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Chanarin-Dorfman syndrome 275630 Neutral lipid storage disease (Disorders of lipolysis) Tags
Green List (high evidence)	ABHD5 Intellectual disability v9.288	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Chanarin-Dorfman syndrome, OMIM:275630 Tags
Green List (high evidence)	ACACA Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Acetyl-CoA carboxylase deficiency, OMIM: 613933 Tags
Green List (high evidence)	ACACA Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Acetyl-CoA carboxylase deficiency, OMIM: 613933 Tags
Green List (high evidence)	ACAD8 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Isobutyric aciduria (Organic acidurias) Tags
Green List (high evidence)	ACAD9 Rhabdomyolysis and metabolic muscle disorders v5.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Literature Emory Genetics Laboratory Phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency 611126 Tags
Green List (high evidence)	ACAD9 Intellectual disability v9.288	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 List (high evidence)	ACAD9 Likely inborn error of metabolism v8.92	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency ACAD9 deficiency, 611126 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Isolated complex I deficiency Tags
Green List (high evidence)	ACADM Rhabdomyolysis and metabolic muscle disorders v5.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Rhabdomyolysis Acyl-CoA dehydrogenase, medium chain, deficiency of 201450 Tags
Green List (high evidence)	ACADM Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY Tags
Green List (high evidence)	ACADM Likely inborn error of metabolism v8.92	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) Tags
Green List (high evidence)	ACADS Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of 201470 Tags
Green List (high evidence)	ACADS Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of Tags
Green List (high evidence)	ACADSB Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes 2-methylbutyrylglycinuria 610006 2-Methylbutyric aciduria (Organic acidurias) Tags
Green List (high evidence)	ACADVL Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes VLCAD deficiency, OMIM:201475 Tags
Green List (high evidence)	ACADVL Likely inborn error of metabolism v8.92	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes VLCAD deficiency Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) Tags
Green List (high evidence)	ACADVL Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes VLCAD deficiency, 201475 metabolic myopathy rhabdomyolsis Tags
Green List (high evidence)	ACAT1 Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism) Fasting intolerance with acidosis, ? residual neurological problems 3-Oxothiolase deficiency (Organic acidurias) Tags
Green List (high evidence)	ACBD6 Intellectual disability v9.288	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785 Tags
Green List (high evidence)	ACER3 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Leukodystrophy, progressive, early childhood-onset, OMIM:617762 Tags
Green List (high evidence)	ACO2 Intellectual disability v9.288	5 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green Phenotypes Infantile cerebellar-retinal degeneration, OMIM:614559 Infantile cerebellar-retinal degeneration, MONDO:0013802 Tags
Green List (high evidence)	ACO2 Likely inborn error of metabolism v8.92	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Infantile cerebellar-retinal degeneration, 614559 Tags
Green List (high evidence)	ACOX1 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470 Tags
Green List (high evidence)	ACOX1 Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470 Mitchell syndrome, OMIM:618960 Tags watchlist_moi
Green List (high evidence)	ACSF3 Likely inborn error of metabolism v8.92	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Combined malonic and methylmalonic aciduria, OMIM:614265 Tags
Green List (high evidence)	ACSL4 Intellectual disability v9.288	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Mental retardation, X-linked 63, OMIM:300387 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome, MONDO:0010263 Tags Skewed X-inactivation
Green List (high evidence)	ACTA1 Distal myopathies v6.16	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800 Tags
Green List (high evidence)	ACTA1 Congenital myopathy v6.45	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Myopathy, actin, congenital, with cores, OMIM:161800 Myopathy, actin, congenital, with excess of thin myofilaments, OMIM:161800 Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310 Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800 Tags
Green List (high evidence)	ACTB Intellectual disability v9.288	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 List (high evidence)	ACTG1 Intellectual disability v9.288	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 List (high evidence)	ACTL6A Intellectual disability v9.288	5 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes developmental delay intellectual disability Tags gene-checked
Green List (high evidence)	ACTL6B Intellectual disability v9.288	5 reviews 1 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Developmental and epileptic encephalopathy 76, OMIM:618468 Intellectual developmental disorder with severe speech and ambulation defects, OMIM:618470 Tags
Green List (high evidence)	ACTN2 Congenital myopathy v6.45	6 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London South GLH Phenotypes Myopathy, congenital with structured cores and Z-line abnormalities, OMIM:618654 Tags
Green List (high evidence)	ACTN2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Myopathy, distal, 6, adult onset, OMIM:618655 Tags
Green List (high evidence)	ACY1 Likely inborn error of metabolism v8.92	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 List (high evidence)	ACY1 Intellectual disability v9.288	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 List (high evidence)	ADA Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Severe combined immunodeficiency due to ADA deficiency, OMIM:102700 Adenosine deaminase deficiency, partial, OMIM:102700 Tags
Green List (high evidence)	ADAM22 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ?Epileptic encephalopathy, early infantile, 61 OMIM:617933 developmental and epileptic encephalopathy, 61 MONDO:0033370 Tags
Green List (high evidence)	ADAR Intellectual disability v9.288	5 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Aicardi-Goutieres syndrome 6, OMIM:615010 Dyschromatosis symmetrica hereditaria, OMIM:127400 Tags
Green List (high evidence)	ADAR Likely inborn error of metabolism v8.92	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Aicardi-Goutieres syndrome 6, OMIM:615010 Dyschromatosis symmetrica hereditaria, OMIM:127400 Tags
Green List (high evidence)	ADARB1 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862 Tags
Green List (high evidence)	ADAT3 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Phenotypes Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, OMIM:615286 Tags
Green List (high evidence)	ADD1 Intellectual disability v9.288	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Global developmental delay Intellectual disability Seizures Ventriculomegaly Abnormality of the corpus callosum Tags
Green List (high evidence)	ADD3 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebral palsy, spastic quadriplegic, 3, MIM#617008 Tags
Green List (high evidence)	ADGRG1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Polymicrogyria, bilateral frontoparietal, 606854 Tags
Green List (high evidence)	ADGRL1 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, OMIM:620065 Tags
Green List (high evidence)	ADK Intellectual disability v9.288	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hypermethioninemia due to adenosine kinase deficiency 614300 Tags
Green List (high evidence)	ADNP Intellectual disability v9.288	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 List (high evidence)	ADSL Intellectual disability v9.288	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 List (high evidence)	ADSL Likely inborn error of metabolism v8.92	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 List (high evidence)	ADSSL1 Congenital myopathy v6.45	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Literature Phenotypes Myopathy, distal, 5, OMIM:617030 Tags new-gene-name
Green List (high evidence)	ADSSL1 Distal myopathies v6.16	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Phenotypes Myopathy, distal, 5, OMIM:617030 Tags new-gene-name
Green List (high evidence)	AFF2 Intellectual disability v9.288	5 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 Intellectual developmental disorder, X-linked 109, OMIM:309548 FRAXE intellectual disability, MONDO:0010659 Tags nucleotide-repeat-expansion
Green List (high evidence)	AFF3 Intellectual disability v9.288	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes KINSSHIP syndrome, OMIM:619297 Tags missense
Green List (high evidence)	AFF4 Intellectual disability v9.288	6 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes CORNELIA DE LANGE-LIKE SYNDROME Tags
Green List (high evidence)	AFG3L2 Likely inborn error of metabolism v8.92	4 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Optic atrophy 12, OMIM:618977 Spinocerebellar ataxia 28, OMIM:610246 Spastic ataxia 5, autosomal recessive, OMIM:614487 Tags
Green List (high evidence)	AGA Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Aspartylglucosaminuria Tags
Green List (high evidence)	AGA Intellectual disability v9.288	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 List (high evidence)	AGK Likely inborn error of metabolism v8.92	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 List (high evidence)	AGL Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Glycogen storage disease IIIa 232400 Glycogen storage disease IIIb 232400 Tags
Green List (high evidence)	AGL Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen storage disease type III, Cori (Glycogen storage disorders) Glycogen storage disease IIIb, 232400 Glycogen Storage Disorders- Liver Glycogen Storage Disease myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance Glycogen Storage Disease Type III Glycogen Storage Disorders- Muscle Glycogen storage disease IIIa, 232400 Tags
Green List (high evidence)	AGO1 Intellectual disability v9.288	7 reviews 2 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, OMIM:620292 Tags
Green List (high evidence)	AGO2 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability regression seizures Tags
Green List (high evidence)	AGPS Likely inborn error of metabolism v8.92	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 List (high evidence)	AGRN Congenital myaesthenic syndrome v5.7	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120 Tags
Green List (high evidence)	AGTPBP1 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276 Tags
Green List (high evidence)	AGXT Likely inborn error of metabolism v8.92	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 List (high evidence)	AHCY Likely inborn error of metabolism v8.92	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 Disorders of the metabolism of sulphur amino acids Tags treatable
Green List (high evidence)	AHCY Intellectual disability v9.288	5 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 Tags treatable
Green List (high evidence)	AHDC1 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes XIA-GIBBS SYNDROME Tags
Green List (high evidence)	AHI1 Intellectual disability v9.288	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 List (high evidence)	AIFM1 Likely inborn error of metabolism v8.92	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 List (high evidence)	AIFM1 Intellectual disability v9.288	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cowchock syndrome, OMIM:310490 Combined oxidative phosphorylation deficiency 6, OMIM:300816 Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, OMIM:300232 Tags
Green List (high evidence)	AIMP1 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 3, OMIM:260600 Tags
Green List (high evidence)	AKR1D1 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes ?4-3-oxysterol 5?-reductase deficiency (Disorders of bile acid biosynthesis) Bile acid synthesis defect, congenital, 2 235555 Tags
Green List (high evidence)	AKT3 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937 Tags mosaicism
Green List (high evidence)	ALAD Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes {Lead poisoning, susceptibility to} 612740 Acute hepatic porphyria (Acute neuropathic porphyrias) Porphyria, acute hepatic 612740 Tags
Green List (high evidence)	ALAS2 Likely inborn error of metabolism v8.92	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list London North GLH NHS GMS Phenotypes Anemia, sideroblastic, 1, OMIM:300751 Protoporphyria, erythropoietic, X-linked, OMIM:300752 Tags
Green List (high evidence)	ALDH18A1 Likely inborn error of metabolism v8.92	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list London North GLH NHS GMS Expert Review Green Phenotypes Cutis laxa, autosomal dominant 3 OMIM:616603 cutis laxa, autosomal dominant 3 MONDO:0014706 Cutis laxa, autosomal recessive, type IIIA OMIM:219150 ALDH18A1-related de Barsy syndrome MONDO:0009053 Spastic paraplegia 9A, autosomal dominant OMIM:601162 hereditary spastic paraplegia 9A MONDO:0011006 Spastic paraplegia 9B, autosomal recessive OMIM:616586 autosomal recessive complex spastic paraplegia type 9B MONDO:0014702 Tags
Green List (high evidence)	ALDH18A1 Intellectual disability v9.288	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 List (high evidence)	ALDH3A2 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Sjogren-Larsson syndrome, OMIM:270200 Tags
Green List (high evidence)	ALDH3A2 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Sjogren-Larsson syndrome, OMIM:270200 Tags
Green List (high evidence)	ALDH4A1 Intellectual disability v9.288	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 List (high evidence)	ALDH4A1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Intellectual disability Hyperprolinaemia type II (Disorders of ornithine or proline metabolism) Hyperprolinemia, type II Tags
Green List (high evidence)	ALDH5A1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Succinic semialdehyde dehydrogenase deficiency OMIM:271980 succinic semialdehyde dehydrogenase deficiency MONDO:0010083 Tags
Green List (high evidence)	ALDH5A1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Succinic semialdehyde dehydrogenase deficiency OMIM:271980 succinic semialdehyde dehydrogenase deficiency MONDO:0010083 Tags
Green List (high evidence)	ALDH6A1 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Methylmalonate semialdehyde dehydrogenase deficiency 614105 3-Hydroxyisobutyric aciduria (Organic acidurias) Methylmalonate semialdehyde dehydrogenase deficiency (Organic acidurias) Tags
Green List (high evidence)	ALDH7A1 Intellectual disability v9.288	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PYRIDOXINE-DEPENDENT EPILEPSY Tags
Green List (high evidence)	ALDH7A1 Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Epilepsy, pyridoxine-dependent Tags
Green List (high evidence)	ALDOA Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Glycogen storage disease XII, OMIM:611881 Tags
Green List (high evidence)	ALDOA Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen Storage Disease Aldolase A deficiency (Glycogen storage disorders) Glycogen storage disease XII, 611881 Tags
Green List (high evidence)	ALDOB Likely inborn error of metabolism v8.92	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 List (high evidence)	ALG1 Likely inborn error of metabolism v8.92	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 List (high evidence)	ALG1 Intellectual disability v9.288	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 List (high evidence)	ALG11 Likely inborn error of metabolism v8.92	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 List (high evidence)	ALG11 Intellectual disability v9.288	5 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ip 613661 ALG11-CDG (CDG-IP) Tags
Green List (high evidence)	ALG12 Intellectual disability v9.288	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 List (high evidence)	ALG12 Likely inborn error of metabolism v8.92	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 List (high evidence)	ALG13 Intellectual disability v9.288	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 List (high evidence)	ALG14 Congenital myaesthenic syndrome v5.7	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Eligibility statement prior genetic testing Phenotypes ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227 Tags
Green List (high evidence)	ALG14 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 Congenital myasthenic sydrome (Disorders of protein N-glycosylation) Tags
Green List (high evidence)	ALG2 Congenital myaesthenic syndrome v5.7	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Myasthenic syndrome, congenital, 14, with tubular aggregates, OMIM:616228 Tags
Green List (high evidence)	ALG3 Likely inborn error of metabolism v8.92	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 List (high evidence)	ALG3 Intellectual disability v9.288	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 List (high evidence)	ALG6 Intellectual disability v9.288	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 List (high evidence)	ALG6 Likely inborn error of metabolism v8.92	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 List (high evidence)	ALG8 Intellectual disability v9.288	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 List (high evidence)	ALG8 Likely inborn error of metabolism v8.92	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 List (high evidence)	ALG9 Intellectual disability v9.288	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental delay Congenital disorder of glycosylation, type Il 608776 Gillessen-Kaesbach-Nishimura syndrome 263210 Tags
Green List (high evidence)	ALG9 Likely inborn error of metabolism v8.92	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 List (high evidence)	ALKBH8 Intellectual disability v9.288	7 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Expert Review Literature Phenotypes Intellectual developmental disorder, autosomal recessive 71, OMIM:618504 Tags
Green List (high evidence)	ALMS1 Intellectual disability v9.288	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ALSTROM SYNDROME, 203800 Tags
Green List (high evidence)	ALPL Likely inborn error of metabolism v8.92	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, OMIM:146300 Hypophosphatasia, childhood, OMIM:241510 Hypophosphatasia, infantile, OMIM:241500 Odontohypophosphatasia, OMIM:146300 Tags
Green List (high evidence)	AMACR Likely inborn error of metabolism v8.92	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 List (high evidence)	AMER1 Intellectual disability v9.288	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 List (high evidence)	AMN Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Intrinsic factor receptor deficiency due to AMN mutations (Disorders of cobalamin absorption, transport and metabolism) Proteinuric renal disease Unexplained kidney failure in young people Tags
Green List (high evidence)	AMPD1 Rhabdomyolysis and metabolic muscle disorders v5.14	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Myopathy due to myoadenylate deaminase deficiency, OMIM:615511 Tags Q3_25_demote_red Q3_25_expert_review
Green List (high evidence)	AMPD2 Intellectual disability v9.288	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PONTOCEREBELLAR HYPOPLASIA Pontocerebellar hypoplasia, type 9, 615809 Tags
Green List (high evidence)	AMT Intellectual disability v9.288	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 List (high evidence)	AMT Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycine encephalopathy Tags
Green List (high evidence)	ANK2 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder, MONDO:0100038 Tags
Green List (high evidence)	ANK3 Intellectual disability v9.288	7 reviews 4 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal recessive 37, OMIM:615493 intellectual disability-hypotonia-spasticity-sleep disorder syndrome, MONDO:0014210 Tags
Green List (high evidence)	ANKRD11 Intellectual disability v9.288	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 List (high evidence)	ANKRD17 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability, speech delay, and dysmorphism Tags
Green List (high evidence)	ANO10 Likely inborn error of metabolism v8.92	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 10, 613728 Tags
Green List (high evidence)	ANO4 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes sporadic encephalopathic and familial epilepsy Tags gene-checked
Green List (high evidence)	ANO5 Distal myopathies v6.16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Miyoshi muscular dystrophy 3, 613319 Tags
Green List (high evidence)	ANO5 Rhabdomyolysis and metabolic muscle disorders v5.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Miyoshi muscular dystrophy 3 613319 Muscular dystrophy, limb-girdle, type 2L 611307 Tags
Green List (high evidence)	ANO5 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH Expert Review Green Eligibility statement prior genetic testing Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Gnathodiaphyseal dysplasia, 166260 Muscular dystrophy, limb-girdle, type 2L, 611307 Miyoshi muscular dystrophy 3, 613319 Limb-girdle muscular dystrophy Limb-Girdle Muscular Dystrophy, Recessive Limb-girdle muscular dystrophy Tags
Green List (high evidence)	AP1G1 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (NDD) Intellectual Disability Epilepsy Tags
Green List (high evidence)	AP1S1 Intellectual disability v9.288	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 List (high evidence)	AP1S2 Intellectual disability v9.288	4 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Pettigrew syndrome, OMIM:304340 Tags
Green List (high evidence)	AP2M1 Intellectual disability v9.288	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 List (high evidence)	AP3B1 Intellectual disability v9.288	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hermansky-Pudlak syndrome 2 608233 Tags
Green List (high evidence)	AP3B2 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 48 617276 Tags
Green List (high evidence)	AP4B1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 47, autosomal recessive, OMIM:614066 Hereditary spastic paraplegia 47, MONDO:0013551 Tags
Green List (high evidence)	AP4E1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 51, autosomal recessive, OMIM:613744 Hereditary spastic paraplegia 51, MONDO:0013401 Tags
Green List (high evidence)	AP4M1 Intellectual disability v9.288	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 List (high evidence)	AP4S1 Intellectual disability v9.288	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 List (high evidence)	APC2 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 10 OMIM:618677 Tags
Green List (high evidence)	APOA1 Likely inborn error of metabolism v8.92	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Amyloidosis, 3 or more types OMIM:105200 familial visceral amyloidosis MONDO:0007099 ApoA-I and apoC-III deficiency, combined OMIM:618463 Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding OMIM:618463 hypoalphalipoproteinemia, primary, 2 MONDO:0032766 Tags
Green List (high evidence)	APOA5 Likely inborn error of metabolism v8.92	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperchylomicronemia, late-onset OMIM:144650 hyperlipoproteinemia type V MONDO:0007762 {Hypertriglyceridemia, susceptibility to} OMIM:145750 hypertriglyceridemia, familial MONDO:0007788 Tags
Green List (high evidence)	APOB Likely inborn error of metabolism v8.92	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypercholesterolemia, familial, 2 OMIM:144010 hypercholesterolemia, autosomal dominant, type B MONDO:0007751 Hypobetalipoproteinemia OMIM:615558 familial hypobetalipoproteinemia 1 MONDO:0014252 Tags
Green List (high evidence)	APOC2 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperlipoproteinemia, type Ib 207750 Familial apolipoprotein C - II deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias) Tags
Green List (high evidence)	APOE Likely inborn error of metabolism v8.92	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Familial dysbetalipoproteinaemia (Inherited mixed hyperlipidaemias) Hyperlipoproteinemia, type III 617347 Sea-blue histiocyte disease 269600 Lipoprotein glomerulopathy 611771 Tags
Green List (high evidence)	APOPT1 Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 Isolated complex IV deficiency Tags new-gene-name
Green List (high evidence)	APOPT1 Intellectual disability v9.288	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 Tags new-gene-name
Green List (high evidence)	APRT Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Adenine phosphoribosyltransferase deficiency 614723 Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism) Tags
Green List (high evidence)	APTX Likely inborn error of metabolism v8.92	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 List (high evidence)	AR_CAG STR Distal myopathies v6.16	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Expert list Phenotypes Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 Tags STR
Green List (high evidence)	AR_CAG STR Congenital myopathy v6.45	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Expert list Phenotypes Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 Tags STR
Green List (high evidence)	AR_CAG STR Paediatric motor neuronopathies v3.12	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Literature Phenotypes Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 Tags STR
Green List (high evidence)	ARCN1 Intellectual disability v9.288	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 List (high evidence)	ARF1 Intellectual disability v9.288	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Periventricular nodular heterotopia 8, OMIM:618185 Tags
Green List (high evidence)	ARF3 Intellectual disability v9.288	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability, MONDO:0001071 Seizures Morphological abnormality of the central nervous system microcephaly, MONDO:0001149 Tags gene-checked
Green List (high evidence)	ARFGEF1 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability, MONDO:0001071 Epilepsy, MONDO:0005027 Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures, OMIM:619964 Tags
Green List (high evidence)	ARFGEF2 Intellectual disability v9.288	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 List (high evidence)	ARG1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Argininemia, OMIM:207800 Tags
Green List (high evidence)	ARG1 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Argininaemia (Urea cycle disorders and inherited hyperammonaemias) Argininemia, OMIM:207800 Tags
Green List (high evidence)	ARHGEF9 Intellectual disability v9.288	4 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Developmental and epileptic encephalopathy 8, OMIM:300607 Tags
Green List (high evidence)	ARID1A Intellectual disability v9.288	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 List (high evidence)	ARID1B Intellectual disability v9.288	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 List (high evidence)	ARID2 Intellectual disability v9.288	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Phenotypes Coffin-Siris syndrome 6, 617808 ARID2-Coffin-Siris like disorder Tags
Green List (high evidence)	ARL13B Intellectual disability v9.288	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Joubert syndrome 8, 612291 Intellectual disability Tags
Green List (high evidence)	ARL6 Intellectual disability v9.288	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 List (high evidence)	ARMC9 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome Intellectual Disability Tags
Green List (high evidence)	ARSA Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Metachromatic leukodystrophy Tags
Green List (high evidence)	ARSA Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ARYLSULFATASE A DEFICIENCY Tags
Green List (high evidence)	ARSB Intellectual disability v9.288	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 6 (MPS6) Tags
Green List (high evidence)	ARSB Likely inborn error of metabolism v8.92	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 List (high evidence)	ARSE Likely inborn error of metabolism v8.92	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 List (high evidence)	ARSE Intellectual disability v9.288	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 List (high evidence)	ARSG Likely inborn error of metabolism v8.92	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Usher syndrome, type IV, OMIM:618144 usher syndrome, type 4, MONDO:0029141 Tags
Green List (high evidence)	ARSK Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Mucopolysaccharidosis, type X, OMIM:619698 mucopolysaccharidosis, type 10, MONDO:0030524 Tags
Green List (high evidence)	ARV1 Intellectual disability v9.288	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 List (high evidence)	ARX Intellectual disability v9.288	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 List (high evidence)	ASAH1 Likely inborn error of metabolism v8.92	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 List (high evidence)	ASAH1 Paediatric motor neuronopathies v3.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950 Tags
Green List (high evidence)	ASAH1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes FARBER LIPOGRANULOMATOSIS Tags
Green List (high evidence)	ASCC1 Congenital myopathy v6.45	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Spinal muscular atrophy with congenital bone fractures 2, OMIM:616867 Tags
Green List (high evidence)	ASCC3 Congenital myopathy v6.45	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 81, OMIM:620700 Tags
Green List (high evidence)	ASH1L Intellectual disability v9.288	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 List (high evidence)	ASL Intellectual disability v9.288	5 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Argininosuccinic aciduria, OMIM:207900 argininosuccinic aciduria, MONDO:0008815 Tags
Green List (high evidence)	ASL Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Argininosuccinic aciduria, OMIM:207900 argininosuccinic aciduria, MONDO:0008815 Tags
Green List (high evidence)	ASNS Intellectual disability v9.288	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 List (high evidence)	ASPA Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Canavan disease Tags
Green List (high evidence)	ASPA Intellectual disability v9.288	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 List (high evidence)	ASPM Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Microcephaly 5, primary, autosomal recessive, OMIM:608716 Tags
Green List (high evidence)	ASS1 Intellectual disability v9.288	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 List (high evidence)	ASS1 Likely inborn error of metabolism v8.92	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 List (high evidence)	ASXL1 Intellectual disability v9.288	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bohring-Opitz syndrome, OMIM:605039 Bohring-Opitz syndrome, MONDO:0011510 Tags
Green List (high evidence)	ASXL2 Intellectual disability v9.288	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 List (high evidence)	ASXL3 Intellectual disability v9.288	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Bainbridge-Ropers syndrome, OMIM:615485 Tags
Green List (high evidence)	ATAD1 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hyperekplexia 4, OMIM:618011 Tags treatable
Green List (high evidence)	ATAD3A Likely inborn error of metabolism v8.92	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Phenotypes Harel-Yoon syndrome, OMIM:617183 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810 Lactic acidosis Methylglutaconic aciduria Tags
Green List (high evidence)	ATAD3A Intellectual disability v9.288	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Harel-Yoon syndrome 617183 Tags
Green List (high evidence)	ATG7 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 31, OMIM:619422 Tags
Green List (high evidence)	ATIC Intellectual disability v9.288	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 List (high evidence)	ATIC Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Intellectual disability AICAR transformylase deficiency (Disorders of purine metabolism) Tags
Green List (high evidence)	ATM Intellectual disability v9.288	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ataxia-telangiectasia, OMIM:208900 Tags Q2_25_ demote_red Q2_25_expert_review
Green List (high evidence)	ATN1 Intellectual disability v9.288	5 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494 Tags
Green List (high evidence)	ATP13A2 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Kufor-Rakeb syndrome Tags
Green List (high evidence)	ATP13A2 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PARKINSON DISEASE 9 Tags
Green List (high evidence)	ATP1A1 Intellectual disability v9.288	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 List (high evidence)	ATP1A2 Intellectual disability v9.288	5 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Migraine, familial hemiplegic, 2 602481 Alternating hemiplegia of childhood 1, 104290 Tags
Green List (high evidence)	ATP1A3 Intellectual disability v9.288	7 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Alternating Hemiplegia of Childhood (AHC), intellectual disability Tags
Green List (high evidence)	ATP2B1 Intellectual disability v9.288	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes Intellectual developmental disorder, autosomal dominant 66, OMIM:619910 Tags watchlist_moi
Green List (high evidence)	ATP5A1 Likely inborn error of metabolism v8.92	6 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228 Combined oxidative phosphorylation deficiency 22, OMIM: 616045 Tags new-gene-name
Green List (high evidence)	ATP5D Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, 618120 Tags new-gene-name
Green List (high evidence)	ATP5E Likely inborn error of metabolism v8.92	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053 mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547 Tags new-gene-name
Green List (high evidence)	ATP5G3 Likely inborn error of metabolism v8.92	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681 Tags new-gene-name
Green List (high evidence)	ATP5O Likely inborn error of metabolism v8.92	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359 Tags new-gene-name
Green List (high evidence)	ATP6AP1 Likely inborn error of metabolism v8.92	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Immunodeficiency 47 Tags
Green List (high evidence)	ATP6AP2 Intellectual disability v9.288	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 List (high evidence)	ATP6V0A1 Intellectual disability v9.288	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes ATP6V0A1-related developmental disorder (monoallelic) Tags
Green List (high evidence)	ATP6V0A2 Likely inborn error of metabolism v8.92	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 List (high evidence)	ATP6V0A2 Intellectual disability v9.288	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cutis laxa, autosomal recessive, type IIA 219200 Wrinkly skin syndrome 278250 Tags
Green List (high evidence)	ATP6V0C Intellectual disability v9.288	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 Tags
Green List (high evidence)	ATP6V1A Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Literature Phenotypes Developmental and epileptic encephalopathy 93, OMIM:618012 Tags
Green List (high evidence)	ATP6V1B2 Intellectual disability v9.288	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes ZIMMERMANN-LABAND SYNDROME Tags
Green List (high evidence)	ATP7A Intellectual disability v9.288	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 List (high evidence)	ATP7A Likely inborn error of metabolism v8.92	3 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Menkes disease Tags
Green List (high evidence)	ATP7B Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Wilson disease Tags
Green List (high evidence)	ATP8A2 Intellectual disability v9.288	5 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM:615268 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 MONDO:0014104 Tags
Green List (high evidence)	ATP8B1 Likely inborn error of metabolism v8.92	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cholestasis, progressive familial intrahepatic 1 211600 Cholestasis, benign recurrent intrahepatic 243300 AR Cholestasis, intrahepatic, of pregnancy, 1 147480 AD Byler disease (Disorders of bile acid metabolism and transport) Tags
Green List (high evidence)	ATP9A Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Literature Phenotypes Global developmental delay Intellectual disability Postnatal microcephaly Failure to thrive Abnormality of the abdomen Neurodevelopmental disorder with poor growth and behavioral abnormalities, OMIM:620242 Tags
Green List (high evidence)	ATPAF2 Likely inborn error of metabolism v8.92	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 List (high evidence)	ATR Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Seckel syndrome 1, OMIM:210600 Tags
Green List (high evidence)	ATRX Intellectual disability v9.288	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 List (high evidence)	ATXN7L3 Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes syndromic neurodevelopmental disorder Tags gene-checked
Green List (high evidence)	AUH Likely inborn error of metabolism v8.92	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 List (high evidence)	AUH Intellectual disability v9.288	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 List (high evidence)	AUTS2 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes SYNDROMIC INTELLECTUAL DISABILITY Tags
Green List (high evidence)	B3GALNT2 Likely inborn error of metabolism v8.92	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 List (high evidence)	B3GALNT2 Intellectual disability v9.288	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 List (high evidence)	B3GALNT2 Congenital muscular dystrophy v6.8	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181 Tags
Green List (high evidence)	B3GALT6 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ehlers-Danlos syndrome, progeroid type, 2 Tags
Green List (high evidence)	B3GAT3 Likely inborn error of metabolism v8.92	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 List (high evidence)	B3GLCT Intellectual disability v9.288	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 List (high evidence)	B3GLCT Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Peters-plus syndrome 261540 O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green List (high evidence)	B4GALNT1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Phenotypes Spastic paraplegia 26, autosomal recessive OMIM:609195 hereditary spastic paraplegia 26 MONDO:0012213 Tags
Green List (high evidence)	B4GALNT1 Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 26, autosomal recessive, OMIM:609195 Hereditary spastic paraplegia 26, MONDO:0012213 Tags
Green List (high evidence)	B4GALT1 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type IId, OMIM:607091 Tags
Green List (high evidence)	B4GALT7 Likely inborn error of metabolism v8.92	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 List (high evidence)	B4GALT7 Intellectual disability v9.288	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 List (high evidence)	B4GAT1 Congenital muscular dystrophy v6.8	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287 Tags
Green List (high evidence)	B9D1 Intellectual disability v9.288	7 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Meckel syndrome 9, OMIM:614209 Meckel syndrome 9, MONDO:0013630 Joubert syndrome 27, OMIM:617120 Joubert syndrome 27, MONDO:0014927 Tags
Green List (high evidence)	B9D2 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Joubert syndrome 34, OMIM:614175 Meckel syndrome 10, OMIM:614175 Meckel syndrome, type 10, MONDO:0013609 Tags
Green List (high evidence)	BAAT Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hypercholanemia, familial Tags
Green List (high evidence)	BAG3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Myopathy, myofibrillar, 6, 612954 Tags
Green List (high evidence)	BAG3 Distal myopathies v6.16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes myofibrillar myopathy 6, 612954 Tags
Green List (high evidence)	BAP1 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes Kury-Isidor syndrome, OMIM:619762 Tags
Green List (high evidence)	BAZ2B Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	BBS1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bardet-Biedl syndrome 1 OMIM:209900 Bardet-Biedl syndrome 1 MONDO:0008854 Tags
Green List (high evidence)	BBS10 Intellectual disability v9.288	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 List (high evidence)	BBS12 Intellectual disability v9.288	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 List (high evidence)	BBS2 Intellectual disability v9.288	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 List (high evidence)	BBS4 Intellectual disability v9.288	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 List (high evidence)	BBS5 Intellectual disability v9.288	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 List (high evidence)	BBS7 Intellectual disability v9.288	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 List (high evidence)	BBS9 Intellectual disability v9.288	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 List (high evidence)	BCAP31 Intellectual disability v9.288	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 List (high evidence)	BCAS3 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic neurodevelopmental disorder Tags
Green List (high evidence)	BCAT2 Likely inborn error of metabolism v8.92	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) Tags treatable
Green List (high evidence)	BCKDHA Likely inborn error of metabolism v8.92	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 List (high evidence)	BCKDHA Intellectual disability v9.288	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 List (high evidence)	BCKDHB Likely inborn error of metabolism v8.92	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 List (high evidence)	BCKDHB Intellectual disability v9.288	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 List (high evidence)	BCKDK Intellectual disability v9.288	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 List (high evidence)	BCKDK Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Branched-chain ketoacid dehydrogenase kinase deficiency Tags
Green List (high evidence)	BCL11A Intellectual disability v9.288	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green List (high evidence)	BCL11B Intellectual disability v9.288	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 List (high evidence)	BCOR Intellectual disability v9.288	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 List (high evidence)	BCS1L Likely inborn error of metabolism v8.92	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 List (high evidence)	BCS1L Intellectual disability v9.288	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 List (high evidence)	BET1 Congenital muscular dystrophy v6.8	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Phenotypes Congenital muscular dystrophy, MONDO:0019950 Tags
Green List (high evidence)	BICD2 Paediatric motor neuronopathies v3.12	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290 Tags
Green List (high evidence)	BICRA Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features Tags
Green List (high evidence)	BIN1 Congenital myopathy v6.45	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Centronuclear myopathy 2, OMIM:255200 Tags watchlist_moi
Green List (high evidence)	BLM Intellectual disability v9.288	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bloom syndrome, OMIM:210900 Tags
Green List (high evidence)	BLOC1S1 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes severe intellectual disability severe global developmental delay epilepsy Tags gene-checked
Green List (high evidence)	BMP4 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Microphthalmia, syndromic 6 607932 Global developmental delay Tags
Green List (high evidence)	BOLA3 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 Tags
Green List (high evidence)	BOLA3 Likely inborn error of metabolism v8.92	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 List (high evidence)	BORCS8 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, OMIM:620987 Tags
Green List (high evidence)	BPTF Intellectual disability v9.288	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 List (high evidence)	BRAF Intellectual disability v9.288	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 List (high evidence)	BRAT1 Intellectual disability v9.288	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME Tags
Green List (high evidence)	BRD4 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Literature Phenotypes Cornelia de Lange syndrome 6, OMIM:620568 Tags
Green List (high evidence)	BRF1 Intellectual disability v9.288	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 List (high evidence)	BRPF1 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Intellectual developmental disorder with dysmorphic facies and ptosis 617333 Tags
Green List (high evidence)	BRSK2 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Expert Review Literature Phenotypes Global developmental delay Autism Behavioral abnormality Global developmental delay, Intellectual disability, Autism, Behavioral abnormality Intellectual disability Tags gene-checked
Green List (high evidence)	BRWD3 Intellectual disability v9.288	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 List (high evidence)	BSCL2 Intellectual disability v9.288	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924 Lipodystrophy, congenital generalized, type 2, OMIM:269700 Tags
Green List (high evidence)	BTD Likely inborn error of metabolism v8.92	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 List (high evidence)	BTD Intellectual disability v9.288	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 List (high evidence)	BUB1 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Microcephaly 30, primary, autosomal recessive, OMIM:620183 Tags
Green List (high evidence)	BUB1B Intellectual disability v9.288	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 List (high evidence)	BVES Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	8 reviews 3 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS South West GLH Literature Phenotypes Muscular dystrophy, limb-girdle, type 2X, 616812 limb girdle muscular dystrophy cardiac arrhythmia Tags new-gene-name
Green List (high evidence)	C12orf4 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 66, OMIM:618221 Tags new-gene-name
Green List (high evidence)	C12orf57 Intellectual disability v9.288	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 List (high evidence)	C12orf65 Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 7, OMIM:613559 Spastic paraplegia 55, autosomal recessive, OMIM:615035 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags new-gene-name
Green List (high evidence)	C12orf65 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 7, OMIM:613559 Spastic paraplegia 55, autosomal recessive, OMIM:615035 Tags new-gene-name
Green List (high evidence)	C19orf12 Likely inborn error of metabolism v8.92	7 reviews 1 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes ?Spastic paraplegia 43, autosomal recessive, OMIM:615043 Neurodegeneration with brain iron accumulation 4, OMIM: 614298 Tags
Green List (high evidence)	C19orf70 Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 37, 618329 Tags new-gene-name
Green List (high evidence)	C1QBP Likely inborn error of metabolism v8.92	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 List (high evidence)	C2CD3 Intellectual disability v9.288	7 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome XIV, 615948 Joubert-related disorder Tags
Green List (high evidence)	C2orf69 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Combined oxidative phosphorylation deficiency 53, OMIM:619423 Tags gene-checked
Green List (high evidence)	C5orf42 Intellectual disability v9.288	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 List (high evidence)	CA2 Intellectual disability v9.288	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 List (high evidence)	CA5A Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Hyperammonemia due to carbonic anhydrase VA deficiency Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias) Tags
Green List (high evidence)	CA8 Intellectual disability v9.288	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 List (high evidence)	CACNA1A Intellectual disability v9.288	6 reviews 2 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Green Phenotypes Developemental and epileptic encephalopathy 42, OMIM:617106 developmental and epileptic encephalopathy, 42, MONDO:0014917 Tags
Green List (high evidence)	CACNA1B Intellectual disability v9.288	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 List (high evidence)	CACNA1C Intellectual disability v9.288	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Timothy syndrome, OMIM:601005 Timothy syndrome, MONDO:0010979 Long QT syndrome 8, OMIM:618447 long qt syndrome 8, MONDO:0032756 Brugada syndrome 3, OMIM:611875 Brugada syndrome 3, MONDO:0012742 CACNA1C-related disorder Tags
Green List (high evidence)	CACNA1D Intellectual disability v9.288	5 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Primary aldosteronism, seizures, and neurologic abnormalities 615474 AD Sinoatrial node dysfunction and deafness 614896 AR Tags
Green List (high evidence)	CACNA1E Intellectual disability v9.288	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 List (high evidence)	CACNA1G Intellectual disability v9.288	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 List (high evidence)	CACNA1I Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with speech impairment and with or without seizures, OMIM:620114 Tags
Green List (high evidence)	CACNA1S Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes {Malignant hyperthermia susceptibility 5}, OMIM:601887 Tags
Green List (high evidence)	CACNA1S Congenital myopathy v6.45	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes Congenital myopathy, MONDO:0019952 Tags
Green List (high evidence)	CACNA2D1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Literature Phenotypes Abnormal muscle tone Feeding difficulties Global developmental delay Intellectual disability Seizures Microcephaly Abnormality of the corpus callosum Cerebral atrophy Abnormality of movement Cortical visual impairment Pain insensitivity Tags
Green List (high evidence)	CAD Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Developmental and epileptic encephalopathy 50, OMIM:616457 Tags
Green List (high evidence)	CAMK2A Intellectual disability v9.288	5 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Phenotypes Mental retardation, autosomal dominant 53, OMIM:617798 ?Mental retardation, autosomal recessive 63, OMIM:618095 Tags watchlist_moi
Green List (high evidence)	CAMK2B Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 54, OMIM:617799 Tags
Green List (high evidence)	CAMK2D Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	CAMK4 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Literature Phenotypes Global developmental delay Intellectual disability Autism Behavioral abnormality Abnormality of movement Dystonia Ataxia Chorea Myoclonus Tags gene-checked
Green List (high evidence)	CAMSAP1 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316 Tags
Green List (high evidence)	CAMTA1 Intellectual disability v9.288	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 List (high evidence)	CAPN15 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318 Tags
Green List (high evidence)	CAPN3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 1, OMIM:253600 Muscular dystrophy, limb-girdle, autosomal dominant 4, OMIM:618129 Tags
Green List (high evidence)	CAPRIN1 Intellectual disability v9.288	8 reviews 3 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636 Tags
Green List (high evidence)	CARS Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Expert Review Literature Phenotypes Microcephaly, developmental delay, and brittle hair syndrome, OMIM:618891 Tags new-gene-name
Green List (high evidence)	CARS2 Likely inborn error of metabolism v8.92	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 List (high evidence)	CASK Intellectual disability v9.288	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 List (high evidence)	CASP2 Intellectual disability v9.288	5 reviews 3 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653 Tags
Green List (high evidence)	CAT Likely inborn error of metabolism v8.92	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 List (high evidence)	CAV3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Rippling muscle disease 2, OMIM:606072 Myopathy, distal, Tateyama type, OMIM:614321 Tags
Green List (high evidence)	CAV3 Rhabdomyolysis and metabolic muscle disorders v5.14	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Myopathy, distal, Tateyama type, OMIM:614321 Rippling muscle disease, OMIM:606072 Tags
Green List (high evidence)	CAVIN1 Congenital muscular dystrophy v6.8	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Lipodystrophy, congenital generalized, type 4, OMIM:613327 Tags
Green List (high evidence)	CBL Intellectual disability v9.288	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 List (high evidence)	CBS Intellectual disability v9.288	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 List (high evidence)	CBS Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Homocystinuria, B6-responsive and nonresponsive types Tags
Green List (high evidence)	CC2D1A Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Intellectual developmental disorder, autosomal recessive 3, OMIM:608443 Tags
Green List (high evidence)	CC2D2A Intellectual disability v9.288	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 List (high evidence)	CCBE1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510 Tags
Green List (high evidence)	CCDC115 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIo 616828 Tags new-gene-name
Green List (high evidence)	CCDC22 Intellectual disability v9.288	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 List (high evidence)	CCDC32 Intellectual disability v9.288	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Cardiofacioneurodevelopmental syndrome, OMIM:619123 cardiofacioneurodevelopmental syndrome, MONDO:0030873 Tags gene-checked
Green List (high evidence)	CCDC47 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Trichohepatoneurodevelopmental syndrome, OMIM:618268 Tags gene-checked
Green List (high evidence)	CCDC82 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	CCDC88A Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Literature Phenotypes PEHO syndrome-like, OMIM:617507 Tags
Green List (high evidence)	CCDC88C Intellectual disability v9.288	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 List (high evidence)	CCND2 Intellectual disability v9.288	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 List (high evidence)	CDC42 Intellectual disability v9.288	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 List (high evidence)	CDC6 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Meier-Gorlin syndrome 5, OMIM:613805 Tags
Green List (high evidence)	CDH11 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert Review Green Literature Phenotypes Elsahy-Waters syndrome, OMIM:211380 Teebi hypertelorism syndrome Tags
Green List (high evidence)	CDH2 Intellectual disability v9.288	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065 Tags
Green List (high evidence)	CDK10 Intellectual disability v9.288	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 List (high evidence)	CDK13 Intellectual disability v9.288	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 List (high evidence)	CDK16 Intellectual disability v9.288	3 reviews 1 green 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Phenotypes Intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	CDK19 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Literature Phenotypes Epileptic encephalopathy, early infantile, 87 618916 Tags
Green List (high evidence)	CDK5RAP2 Intellectual disability v9.288	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 List (high evidence)	CDK8 Intellectual disability v9.288	5 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Intellectual developmental disorder with hypotonia and behavioral abnormalities, OMIM:618748 Tags
Green List (high evidence)	CDKL5 Intellectual disability v9.288	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 List (high evidence)	CDON Intellectual disability v9.288	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 List (high evidence)	CELF2 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Developmental and epileptic encephalopathy 97, OMIM:619561 Tags
Green List (high evidence)	CENPF Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Other Phenotypes Stromme syndrome, OMIM:243605 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome Tags
Green List (high evidence)	CENPJ Intellectual disability v9.288	4 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 new-gene-name
Green List (high evidence)	CEP104 Intellectual disability v9.288	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Joubert syndrome 25, 616781 Tags
Green List (high evidence)	CEP120 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 31 (617761) Short-rib thoracic dysplasia 13 with or without polydactyly (616300) Tags
Green List (high evidence)	CEP135 Intellectual disability v9.288	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 List (high evidence)	CEP152 Intellectual disability v9.288	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 List (high evidence)	CEP290 Intellectual disability v9.288	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 List (high evidence)	CEP41 Intellectual disability v9.288	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 List (high evidence)	CEP55 Intellectual disability v9.288	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes microcephaly, delayed development, and bilateral toe syndactyly Tags
Green List (high evidence)	CEP57 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 Tags
Green List (high evidence)	CEP83 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY Tags
Green List (high evidence)	CEP85L Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Lissencephaly 10, OMIM:618873 Lissencephaly 10, MONDO:0030031 Tags gene-checked
Green List (high evidence)	CFL2 Congenital myopathy v6.45	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nemaline myopathy 7, autosomal recessive, OMIM:610687 Tags
Green List (high evidence)	CHAMP1 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, OMIM:616579 Tags
Green List (high evidence)	CHAT Congenital myaesthenic syndrome v5.7	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Myasthenic syndrome, congenital, 6, presynaptic, OMIM:254210 Tags
Green List (high evidence)	CHCHD10 Paediatric motor neuronopathies v3.12	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spinal muscular atrophy, Jokela type, OMIM:615048 Tags
Green List (high evidence)	CHCHD10 Likely inborn error of metabolism v8.92	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 Spinal muscular atrophy, Jokela type Tags
Green List (high evidence)	CHD2 Intellectual disability v9.288	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 List (high evidence)	CHD3 Intellectual disability v9.288	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 List (high evidence)	CHD4 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Sifrim-Hitz-Weiss syndrome OMIM:617159 Sifrim-Hitz-Weiss syndrome MONDO:0014946 Tags
Green List (high evidence)	CHD5 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Parenti-Mignot neurodevelopmental syndrome, OMIM:610771 Intellectual disability, MONDO:0001071 Epilepsy, MONDO:0005027 Tags
Green List (high evidence)	CHD7 Intellectual disability v9.288	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 List (high evidence)	CHD8 Intellectual disability v9.288	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 List (high evidence)	CHKA Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Abnormal muscle tone Global developmental delay Intellectual disability Seizures Microcephaly Abnormality of movement Abnormality of nervous system morphology Short stature Tags
Green List (high evidence)	CHKB Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Expert list Phenotypes Muscular dystrophy, congenital, megaconial type, OMIM:602541 Tags
Green List (high evidence)	CHKB Congenital muscular dystrophy v6.8	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Muscular dystrophy, congenital, megaconial type, OMIM:602541 Tags
Green List (high evidence)	CHKB Likely inborn error of metabolism v8.92	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Choline kinase deficiency (Disorders of complex lipid synthesis) Muscular dystrophy, congenital, megaconial type, 602541 Tags
Green List (high evidence)	CHKB Intellectual disability v9.288	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Muscular dystrophy, congenital, megaconial type, 602541 Tags
Green List (high evidence)	CHMP1A Intellectual disability v9.288	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Pontocerebellar hypoplasia, type 8 614961 Tags
Green List (high evidence)	CHRNA1 Congenital myaesthenic syndrome v5.7	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Myasthenic syndrome, congenital, 1A, slow-channel, OMIM:601462 Myasthenic syndrome, congenital, 1B, fast-channel, OMIM:608930 Tags
Green List (high evidence)	CHRNB1 Congenital myaesthenic syndrome v5.7	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, OMIM:616314 Myasthenic syndrome, congenital, 2A, slow-channel, OMIM:616313 Tags deletions
Green List (high evidence)	CHRND Congenital myaesthenic syndrome v5.7	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes ?Myasthenic syndrome, congenital, 3A, slow-channel, OMIM:616321 ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, OMIM:616323 Myasthenic syndrome, congenital, 3B, fast-channel, OMIM:616322 Tags
Green List (high evidence)	CHRNE Congenital myaesthenic syndrome v5.7	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809 Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931 Tags
Green List (high evidence)	CHRNG Congenital myaesthenic syndrome v5.7	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes transient neonatal myasthenia gravis, MONDO:0018326 Tags
Green List (high evidence)	CHST14 Likely inborn error of metabolism v8.92	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 List (high evidence)	CHST3 Likely inborn error of metabolism v8.92	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 List (high evidence)	CHST6 Likely inborn error of metabolism v8.92	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 List (high evidence)	CHSY1 Likely inborn error of metabolism v8.92	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 List (high evidence)	CIAO1 Congenital muscular dystrophy v6.8	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960 Tags
Green List (high evidence)	CIAO1 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960 Tags
Green List (high evidence)	CIAO1 Congenital myopathy v6.45	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960 Tags
Green List (high evidence)	CIAO1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960 Tags
Green List (high evidence)	CIC Intellectual disability v9.288	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 List (high evidence)	CISD2 Likely inborn error of metabolism v8.92	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 List (high evidence)	CIT Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Microcephaly 17, primary, autosomal recessive, 617090 Tags
Green List (high evidence)	CKAP2L Intellectual disability v9.288	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 List (high evidence)	CLCN3 Intellectual disability v9.288	3 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512 Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517 Tags
Green List (high evidence)	CLCN4 Intellectual disability v9.288	6 reviews 2 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Green Phenotypes Raynaud-Claes syndrome, OMIM:300114 Tags
Green List (high evidence)	CLCN6 Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Other Phenotypes Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173 Tags
Green List (high evidence)	CLDN11 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 22, OMIM:619328 Tags
Green List (high evidence)	CLDN16 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypomagnesemia 3, renal, OMIM:248250 Tags
Green List (high evidence)	CLDN19 Likely inborn error of metabolism v8.92	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 List (high evidence)	CLDN5 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	CLEC16A Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes severe neurodevelopmental disorder including microcephaly, brain atrophy, corpus callosum dysgenesis, and growth retardation Tags gene-checked
Green List (high evidence)	CLN3 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 3, 204200 Tags
Green List (high evidence)	CLN3 Intellectual disability v9.288	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 List (high evidence)	CLN5 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ceroid lipofuscinosis, neuronal, 5 OMIM:256731 neuronal ceroid lipofuscinosis 5 MONDO:0009745 Tags
Green List (high evidence)	CLN5 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 5 OMIM:256731 neuronal ceroid lipofuscinosis 5 MONDO:0009745 Tags
Green List (high evidence)	CLN6 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 6, 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 Tags
Green List (high evidence)	CLN6 Intellectual disability v9.288	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 List (high evidence)	CLN8 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 8 Tags
Green List (high evidence)	CLN8 Intellectual disability v9.288	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 List (high evidence)	CLP1 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pontocerebellar hypoplasia 10 OMIM:615803 Pontocerebellar hypoplasia type 10 MONDO:0014349 Tags founder-effect
Green List (high evidence)	CLPB Likely inborn error of metabolism v8.92	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835 Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813 Tags
Green List (high evidence)	CLPB Intellectual disability v9.288	6 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM:619835 Neutropenia, severe congenital, 9, autosomal dominant, OMIM:619813 Tags
Green List (high evidence)	CLPP Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Perrault syndrome 3, 614129 Tags
Green List (high evidence)	CLTC Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Expert Review Green Expert Review Green Phenotypes Mental retardation, autosomal dominant 56, OMIM:617854 Tags
Green List (high evidence)	CNBP_CCTG STR Distal myopathies v6.16	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Myotonic dystrophy 2, OMIM:602668 Myotonic dystrophy type 2, MONDO:0011266 Tags STR
Green List (high evidence)	CNKSR2 Intellectual disability v9.288	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Emory Genetics Laboratory Phenotypes Intellectual developmental disorder, X-linked, syndromic, Houge type, OMIM:301008 intellectual disability, X-linked, syndromic, Houge type, MONDO:0030909 Tags
Green List (high evidence)	CNNM2 Intellectual disability v9.288	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, OMIM:616418 Hypomagnesemia, seizures, and mental retardation, MONDO:0014631 Tags
Green List (high evidence)	CNNM2 Likely inborn error of metabolism v8.92	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism) Hypomagnesemia 6, renal 613882 Hypomagnesemia, seizures, and mental retardation 616418 Tags
Green List (high evidence)	CNOT1 Intellectual disability v9.288	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 List (high evidence)	CNOT2 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Phenotypes Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, 618608 Tags
Green List (high evidence)	CNOT3 Intellectual disability v9.288	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes CNOT3 syndrome intellectual disability, global developmental delay Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672 Tags
Green List (high evidence)	CNOT9 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	CNTNAP1 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hypomyelinating neuropathy, congenital, 3 618186 Lethal congenital contracture syndrome 7 616286 Tags
Green List (high evidence)	CNTNAP2 Intellectual disability v9.288	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 List (high evidence)	COA6 Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501 Tags
Green List (high evidence)	COA7 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770 Tags
Green List (high evidence)	COASY Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 6, OMIM:615643 neurodegeneration with brain iron accumulation 6, MONDO:0014290 Pontocerebellar hypoplasia, type 12, OMIM:618266 pontocerebellar hypoplasia, type 12, MONDO:0032643 Tags
Green List (high evidence)	COG1 Likely inborn error of metabolism v8.92	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 List (high evidence)	COG1 Intellectual disability v9.288	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 List (high evidence)	COG4 Likely inborn error of metabolism v8.92	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 List (high evidence)	COG4 Intellectual disability v9.288	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIj, 613489 COG4-CDG (CDG-IIJ) Tags
Green List (high evidence)	COG5 Intellectual disability v9.288	7 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green Expert Review Green Phenotypes Congenital disorder of glycosylation, type III, 613612 COG5-CDG CDG-III Tags
Green List (high evidence)	COG5 Likely inborn error of metabolism v8.92	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 List (high evidence)	COG6 Intellectual disability v9.288	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 List (high evidence)	COG6 Likely inborn error of metabolism v8.92	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 List (high evidence)	COG7 Intellectual disability v9.288	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 List (high evidence)	COG7 Likely inborn error of metabolism v8.92	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 List (high evidence)	COG8 Likely inborn error of metabolism v8.92	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 List (high evidence)	COG8 Intellectual disability v9.288	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 List (high evidence)	COL12A1 Congenital muscular dystrophy v6.8	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes Ullrich congenital muscular dystrophy 2 Bethlem myopathy 2 Tags
Green List (high evidence)	COL12A1 Congenital myopathy v6.45	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green UCL Phenotypes EDS/myopathy overlap syndrome Tags
Green List (high evidence)	COL13A1 Congenital myaesthenic syndrome v5.7	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Literature Eligibility statement prior genetic testing Phenotypes Myasthenic syndrome, congenital, 19, OMIM:616720 Tags treatable
Green List (high evidence)	COL13A1 Congenital myopathy v6.45	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Myasthenic syndrome, congenital, 19, OMIM:616720 Tags treatable
Green List (high evidence)	COL25A1 Congenital myopathy v6.45	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Research Expert Review Literature Expert list Phenotypes Arthrogryposis multiplex congenita with or without ocular congenital cranial dysinnervation disorder Tags
Green List (high evidence)	COL4A1 Intellectual disability v9.288	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 List (high evidence)	COL4A2 Intellectual disability v9.288	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 List (high evidence)	COL4A3BP Intellectual disability v9.288	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Intellectual developmental disorder, autosomal dominant 34, OMIM:616351 Tags new-gene-name
Green List (high evidence)	COL6A1 Congenital muscular dystrophy v6.8	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Bethlem myopathy 1, OMIM:158810 Ullrich congenital muscular dystrophy 1, OMIM:254090 Tags
Green List (high evidence)	COL6A1 Congenital myopathy v6.45	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Bethlem myopathy 1, OMIM:158810 Ullrich congenital muscular dystrophy 1, OMIM:254090 Tags
Green List (high evidence)	COL6A1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Phenotypes Bethlem myopathy 1, OMIM:158810 Ullrich congenital muscular dystrophy 1, OMIM:254090 Tags
Green List (high evidence)	COL6A2 Congenital myopathy v6.45	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Bethlem myopathy, OMIM:158810 Ullrich congenital muscular dystrophy, OMIM:254090 Tags
Green List (high evidence)	COL6A2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Bethlem myopathy 1 158810 Tags
Green List (high evidence)	COL6A2 Congenital muscular dystrophy v6.8	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Bethlem myopathy, 158810 Ullrich congenital muscular dystrophy, 254090 Tags
Green List (high evidence)	COL6A3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Bethlem myopathy, OMIM:158810 Ullrich congenital muscular dystrophy, OMIM:254090 Tags
Green List (high evidence)	COL6A3 Congenital muscular dystrophy v6.8	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Bethlem myopathy, OMIM:158810 Ullrich congenital muscular dystrophy, OMIM:254090 Tags
Green List (high evidence)	COL6A3 Congenital myopathy v6.45	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Bethlem myopathy, OMIM:158810 Ullrich congenital muscular dystrophy, OMIM:254090 Tags
Green List (high evidence)	COLEC11 Intellectual disability v9.288	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 List (high evidence)	COLQ Congenital myaesthenic syndrome v5.7	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Myasthenic syndrome, congenital, 5, OMIM:603034 Tags treatable
Green List (high evidence)	COPB2 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes osteoporosis developmental delay Tags
Green List (high evidence)	COQ2 Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 1, OMIM:607426 Tags
Green List (high evidence)	COQ4 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 7, OMIM:616276 Tags
Green List (high evidence)	COQ4 Intellectual disability v9.288	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes COENZYME Q10 DEFICIENCY, PRIMARY, 7 Tags
Green List (high evidence)	COQ4 Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Expert list Phenotypes Coenzyme Q10 deficiency, primary, 7, OMIM:616276 Tags
Green List (high evidence)	COQ6 Likely inborn error of metabolism v8.92	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 List (high evidence)	COQ7 Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Coenzyme Q10 deficiency, primary, 8 616733 Tags
Green List (high evidence)	COQ8A Likely inborn error of metabolism v8.92	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Coenzyme Q10 deficiency Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis Coenzyme Q10 deficiency, primary, 4, 612016 Tags
Green List (high evidence)	COQ8A Intellectual disability v9.288	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 List (high evidence)	COQ8A Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Expert list Phenotypes Coenzyme Q10 deficiency, primary, 4, OMIM:612016 Tags
Green List (high evidence)	COQ8B Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 9 Tags
Green List (high evidence)	COQ9 Likely inborn error of metabolism v8.92	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 List (high evidence)	COX10 Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency Tags
Green List (high evidence)	COX10 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 Tags
Green List (high evidence)	COX11 Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275 Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 Tags
Green List (high evidence)	COX14 Likely inborn error of metabolism v8.92	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 List (high evidence)	COX15 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 Tags
Green List (high evidence)	COX15 Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 Tags
Green List (high evidence)	COX20 Likely inborn error of metabolism v8.92	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 List (high evidence)	COX5A Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064 Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 Tags
Green List (high evidence)	COX6A1 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039 Tags
Green List (high evidence)	COX6A2 Congenital myopathy v6.45	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062 Tags
Green List (high evidence)	COX6B1 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051 Tags
Green List (high evidence)	COX7B Likely inborn error of metabolism v8.92	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 List (high evidence)	CP Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290 Tags
Green List (high evidence)	CPE Intellectual disability v9.288	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326 Tags
Green List (high evidence)	CPLX1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Developmental and epileptic encephalopathy 63, OMIM:617976 developmental and epileptic encephalopathy, 63, MONDO:0033372 Tags
Green List (high evidence)	CPOX Likely inborn error of metabolism v8.92	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Coproporphyria, OMIM:121300 Harderoporphyria, OMIM:618892 Tags Q3_25_expert_review Q3_25_MOI
Green List (high evidence)	CPS1 Likely inborn error of metabolism v8.92	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 List (high evidence)	CPS1 Intellectual disability v9.288	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 List (high evidence)	CPT1A Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Carnitine palmitoyltransferase I (CPTI) deficiency (Disorders of carnitine transport and the carnitine cycle) CPT deficiency, hepatic, type IA Tags
Green List (high evidence)	CPT2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes CPT II deficiency, infantile, OMIM:600649 CPT II deficiency, lethal neonatal, OMIM:608836 Tags
Green List (high evidence)	CPT2 Likely inborn error of metabolism v8.92	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes CPT II deficiency, infantile, OMIM:600649 CPT II deficiency, lethal neonatal, OMIM:608836 CPT II deficiency, myopathic, stress-induced, OMIM:255110 Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle) Tags
Green List (high evidence)	CPT2 Rhabdomyolysis and metabolic muscle disorders v5.14	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes CPT II deficiency, myopathic, stress-induced, OMIM:255110 Exercise intolerance and rhabdomyolysis, late onset Tags
Green List (high evidence)	CRADD Intellectual disability v9.288	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Phenotypes Mental retardation, autosomal recessive 34, with variant lissencephaly, OMIM:614499 Tags
Green List (high evidence)	CRB2 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE Tags
Green List (high evidence)	CREB3L3 Likely inborn error of metabolism v8.92	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS South West GLH Phenotypes Hypertriglyceridemia 2, OMIM:619324 Hypertriglyceridemia (disease) MONDO:0005347 Tags
Green List (high evidence)	CREBBP Intellectual disability v9.288	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 List (high evidence)	CRELD1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 Tags
Green List (high evidence)	CRLS1 Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Combined oxidative phosphorylation deficiency 57, OMIM:620167 Tags
Green List (high evidence)	CRYAB Distal myopathies v6.16	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Myopathy, myofibrillar, 2, OMIM:608810 Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 Tags
Green List (high evidence)	CRYAB Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Myopathy, myofibrillar, 2, OMIM:608810 Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 Tags
Green List (high evidence)	CSDE1 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Autism Global developmental delay Intellectual disability Tags gene-checked
Green List (high evidence)	CSGALNACT1 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Congenital disorder of glycosylation Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870 skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029 Tags
Green List (high evidence)	CSNK1G1 Intellectual disability v9.288	6 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes severe non-syndromic early-onset epilepsy Global developmental delay Intellectual disability Autism Seizures Abnormality of the face Abnormality of limbs Tags gene-checked
Green List (high evidence)	CSNK2A1 Intellectual disability v9.288	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Other Phenotypes Okur-Chung neurodevelopmental syndrome, OMIM:617062 Tags
Green List (high evidence)	CSNK2B Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Poirier-Bienvenu neurodevelopmental syndrome, OMIM:618732 Poirier-Bienvenu neurodevelopmental syndrome, MONDO:0032889 Tags
Green List (high evidence)	CSPP1 Intellectual disability v9.288	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 List (high evidence)	CSTB Intellectual disability v9.288	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 Tags nucleotide-repeat-expansion
Green List (high evidence)	CTBP1 Intellectual disability v9.288	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 List (high evidence)	CTCF Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green List (high evidence)	CTDP1 Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, 604168 CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME (CCFDN) Tags
Green List (high evidence)	CTH Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cystathioninuria, 219500 Tags
Green List (high evidence)	CTNNA2 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 9, OMIM:618174 Tags
Green List (high evidence)	CTNNB1 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM:615075 Tags
Green List (high evidence)	CTNND1 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes developmental delay Tags
Green List (high evidence)	CTNS Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cystinosis, atypical nephropathic Tags
Green List (high evidence)	CTR9 Intellectual disability v9.288	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Macrocephaly, HP:0000256 Motor delay, HP:0001270 intellectual disability, MONDO:0001071 Delayed speech and language development Behavioral abnormality Autistic behavior Failure to thrive Feeding difficulties Abnormality of the cardiovascular system Tags gene-checked
Green List (high evidence)	CTSA Intellectual disability v9.288	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 List (high evidence)	CTSA Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Galactosialidosis Tags
Green List (high evidence)	CTSC Likely inborn error of metabolism v8.92	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 List (high evidence)	CTSD Intellectual disability v9.288	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 List (high evidence)	CTSD Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 10, 610127 Tags
Green List (high evidence)	CTSF Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362 neuronal ceroid lipofuscinosis 13 MONDO:0014147 Tags
Green List (high evidence)	CTSK Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Pycnodysostosis Tags
Green List (high evidence)	CTU2 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes DREAM‐PL syndrome Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 Tags
Green List (high evidence)	CUBN Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism) Megaloblastic anemia-1, Finnish type Proteinuric renal disease Unexplained kidney failure in young people Tags
Green List (high evidence)	CUL3 Intellectual disability v9.288	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with or without autism or seizures, OMIM:619239 Tags
Green List (high evidence)	CUL4B Intellectual disability v9.288	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 List (high evidence)	CUX1 Intellectual disability v9.288	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 List (high evidence)	CUX2 Intellectual disability v9.288	8 reviews 2 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Developmental and epileptic encephalopathy 67, OMIM:618141 Seizures Intellectual disability Autistic behaviour Tags
Green List (high evidence)	CWC27 Intellectual disability v9.288	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 List (high evidence)	CWF19L1 Intellectual disability v9.288	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 List (high evidence)	CXorf56 Intellectual disability v9.288	6 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Phenotypes Intellectual developmental disorder, X-linked 107, OMIM:301013 Tags gene-checked new-gene-name Skewed X-inactivation
Green List (high evidence)	CYB5R3 Intellectual disability v9.288	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 List (high evidence)	CYC1 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 MC3DN6 Tags
Green List (high evidence)	CYC1 Likely inborn error of metabolism v8.92	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 List (high evidence)	CYFIP2 Intellectual disability v9.288	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 List (high evidence)	CYP27A1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cerebrotendinous xanthomatosis, 213700 Tags
Green List (high evidence)	CYP7B1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Bile acid synthesis defect, congenital, 3 613812 Spastic paraplegia 5A, autosomal recessive 270800 Tags treatable
Green List (high evidence)	D2HGDH Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes D-2-hydroxyglutaric aciduria Tags
Green List (high evidence)	D2HGDH Intellectual disability v9.288	6 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes D-2-hydroxyglutaric aciduria, 600721 Tags
Green List (high evidence)	DAG1 Congenital muscular dystrophy v6.8	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Emory Genetics Laboratory Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, OMIM:616538 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, OMIM:613818 Tags watchlist_moi
Green List (high evidence)	DAG1 Intellectual disability v9.288	7 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Walker-Warburg syndrome Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 613818 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538 Tags
Green List (high evidence)	DAG1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	7 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS South West GLH Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 Limb girdle muscular dystrophy congenital muscular dystrophy Limb-girdle muscular dystrophy Tags
Green List (high evidence)	DAGLA Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes intellectual disability, MONDO:0001071 Tags
Green List (high evidence)	DARS Intellectual disability v9.288	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. Tags new-gene-name
Green List (high evidence)	DARS Likely inborn error of metabolism v8.92	7 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity Tags new-gene-name
Green List (high evidence)	DARS2 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	DARS2 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105 Tags
Green List (high evidence)	DBH Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dopamine beta-hydroxylase deficiency Tags
Green List (high evidence)	DBT Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dihydrolipoamide branched chain transacylase deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria) Maple syrup urine disease, type II Tags
Green List (high evidence)	DBT Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Maple syrup urine disease, type II, 248600 MAPLE SYRUP URINE DISEASEQ Tags
Green List (high evidence)	DCAF17 Intellectual disability v9.288	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Woodhouse-Sakati syndrome, 241080 WOODHOUSE-SAKATI SYNDROME (WOSAS) Tags
Green List (high evidence)	DCHS1 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Other Expert Review Green Phenotypes Van Maldergem syndrome 1, OMIM:601390 Tags
Green List (high evidence)	DCPS Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Literature Expert Review Phenotypes Al-Raqad syndrome, 616459 Al-Raqad syndrome (OMIM 616459) Tags
Green List (high evidence)	DCX Intellectual disability v9.288	3 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Lissencephaly, X-linked, OMIM:300067 Subcortical laminal heterotopia, X-linked, OMIM:300067 Tags
Green List (high evidence)	DCXR Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes [Pentosuria] 260800 Tags
Green List (high evidence)	DDB1 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual disability Tags
Green List (high evidence)	DDC Intellectual disability v9.288	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643 Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 Tags
Green List (high evidence)	DDC Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643 Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 Tags
Green List (high evidence)	DDHD2 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 54, autosomal recessive, 615033 COMPLEX HEREDITARY SPASTIC PARAPLEGIA Tags
Green List (high evidence)	DDOST Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital disorder of glycosylation, type Ir, OMIM:614507 Tags
Green List (high evidence)	DDX11 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes WARSAW BREAKAGE SYNDROME (WBRS) Tags
Green List (high evidence)	DDX17 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	DDX23 Intellectual disability v9.288	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Global developmental delay with speech and behavioral abnormalities, MONDO:0030995 Tags gene-checked
Green List (high evidence)	DDX3X Intellectual disability v9.288	4 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958 Tags
Green List (high evidence)	DDX59 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Literature Phenotypes Orofaciodigital syndrome V, 174300 Tags
Green List (high evidence)	DDX6 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Generalized hypotonia Global developmental delay Intellectual disability Unsteady gait Abnormality of the cardiovascular system Abnormality of the genitourinary system Abnormality of limbs Tags
Green List (high evidence)	DEAF1 Intellectual disability v9.288	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes ?Dyskinesia, seizures, and intellectual developmental disorder, 617171 Mental retardation, autosomal dominant 24, 615828 Tags
Green List (high evidence)	DEGS1 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy hypomyelinating 18, MIM 618404) developmental delay Tags
Green List (high evidence)	DENND5B Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes DENND5B associated neurodevelopmental disorder Tags gene-checked
Green List (high evidence)	DEPDC5 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Epilepsy, familial focal, with variable foci 1, OMIM:604364 Tags
Green List (high evidence)	DES Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	7 reviews 3 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS South West GLH Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, limb-girdle, type 2R, 615325 myofibrillar myopathy cardiomyopathy limb girdle muscular dystrophy Tags
Green List (high evidence)	DES Distal myopathies v6.16	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Phenotypes Myopathy, myofibrillar 1, 601419 Tags
Green List (high evidence)	DGUOK Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Deoxyguanosine kinase deficiency (Disorders of purine metabolism) Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 Mitochondrial DNA Depletion Syndrome Disorders of mitochondrial DNA maintenance and integrity Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	DGUOK Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Expert list Phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM:617070 Tags
Green List (high evidence)	DHCR24 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Desmosterolosis 602398 Tags
Green List (high evidence)	DHCR24 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Desmosterolosis, 602398 DESMOSTEROLOSIS Tags
Green List (high evidence)	DHCR7 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability IUGR and IGF abnormalities Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis) Disorders of sex development Cataracts Tags
Green List (high evidence)	DHCR7 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Smith-Lemli-Opitz syndrome, 270400 SMITH-LEMLI-OPITZ SYNDROME (SLOS) Tags
Green List (high evidence)	DHDDS Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes Developmental delay and seizures with or without movement abnormalities, OMIM:617836 Tags
Green List (high evidence)	DHFR Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dihydrofolate reductase deficiency (Disorders of folate metabolism and transport) Megaloblastic anemia due to dihydrofolate reductase deficiency Tags
Green List (high evidence)	DHFR Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY Tags
Green List (high evidence)	DHODH Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Miller syndrome 263750 Tags
Green List (high evidence)	DHPS Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Expert Review Literature Phenotypes Abnormality of head or neck Seizures Abnormal muscle tone, Global developmental delay, Intellectual disability, Seizures, EEG abnormality, Behavioral abnormality, Abnormality of head or neck EEG abnormality Behavioral abnormality Abnormal muscle tone Intellectual disability Global developmental delay Tags
Green List (high evidence)	DHRSX Intellectual disability v9.288	7 reviews 3 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital disorder of glycosylation, type 1DD, OMIM:301133 Tags gene-checked Pseudoautosomal region 1
Green List (high evidence)	DHRSX Likely inborn error of metabolism v8.92	7 reviews 3 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital disorder of glycosylation, type 1DD, OMIM:301133 Tags gene-checked Pseudoautosomal region 1
Green List (high evidence)	DHTKD1 Likely inborn error of metabolism v8.92	7 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism) 2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism) 2-aminoadipic and 2-oxoadipic aciduria, 204750 Tags
Green List (high evidence)	DHTKD1 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes 2-aminoadipic 2-oxoadipic aciduria, 204750 Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA Tags
Green List (high evidence)	DHX30 Intellectual disability v9.288	5 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes microcephaly, developmental delay intellectual disability, mild cerebral volume loss, hypotonia, seizures, short stature, failure to thrive, and generalized hirsutism Tags
Green List (high evidence)	DHX37 Intellectual disability v9.288	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731 Tags
Green List (high evidence)	DHX9 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 75, OMIM:620988 Tags
Green List (high evidence)	DIAPH1 Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Seizures, cortical blindness, microcephaly syndrome, 616632 developmental delay intellectual disability Tags
Green List (high evidence)	DIS3L2 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags deletions non-coding-known-pathogenic
Green List (high evidence)	DKC1 Intellectual disability v9.288	4 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Dyskeratosis congenita, X-linked, 305000 DKC1-RELATED DYSKERATOSIS CONGENITA Tags
Green List (high evidence)	DLAT Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dihydrolipoyl transacetylase deficiency (Disorders of pyruvate metabolism) Pyruvate dehydrogenase E2 deficiency, 245348 Tags
Green List (high evidence)	DLD Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dihydrolipoamide dehydrogenase deficiency, OMIM:246900 Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism) Leigh syndrome Tags
Green List (high evidence)	DLD Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Dihydrolipoamide dehydrogenase deficiency, OMIM:246900 Tags
Green List (high evidence)	DLG3 Intellectual disability v9.288	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Mental retardation, X-linked 90, 300850 MENTAL RETARDATION X-LINKED TYPE 90 (MRX90) Tags
Green List (high evidence)	DLG4 Intellectual disability v9.288	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Intellectual disability Marfanoid habitus Intellectual developmental disorder 62 #618793 Tags microduplication
Green List (high evidence)	DLL1 Intellectual disability v9.288	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, OMIM:618709 Tags
Green List (high evidence)	DMD Intellectual disability v9.288	5 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Duchenne muscular dystrophy, 310200Becker muscular dystrophy, 300376Cardiomyopathy, dilated, 3B, 302045 BECKER MUSCULAR DYSTROPHY (BMD) Tags gene-therapy-trial Skewed X-inactivation
Green List (high evidence)	DMD Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Eligibility statement prior genetic testing Phenotypes Duchenne muscular dystrophy 310200 Becker muscular dystrophy 300376 Tags gene-therapy-trial Skewed X-inactivation
Green List (high evidence)	DMD Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Becker muscular dystrophy 300376 Tags gene-therapy-trial Skewed X-inactivation
Green List (high evidence)	DMD Congenital muscular dystrophy v6.8	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Becker muscular dystrophy, OMIM:300376 Duchenne muscular dystrophy, OMIM:310200 Tags gene-therapy-trial Skewed X-inactivation
Green List (high evidence)	DMPK_CTG STR Likely inborn error of metabolism v8.92	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags STR
Green List (high evidence)	DMPK_CTG STR Congenital myopathy v6.45	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags STR
Green List (high evidence)	DMPK_CTG STR Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags STR
Green List (high evidence)	DMPK_CTG STR Congenital muscular dystrophy v6.8	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert Review Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags STR
Green List (high evidence)	DMXL2 Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Sensorineural Hearing Loss ORPHA90636 Epileptic encephalopathy, early infantile, 81, 618663 ?Polyendocrine-polyneuropathy syndrome, 616113 Tags
Green List (high evidence)	DNA2 Likely inborn error of metabolism v8.92	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 615156 Disorders of mitochondrial DNA maintenance and integrity Tags
Green List (high evidence)	DNAJB4 Congenital myopathy v6.45	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes congenital myopathy with early respiratory failure Tags
Green List (high evidence)	DNAJB6 Distal myopathies v6.16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes limb-girdle muscular dystrophy type 1E, 603511 Tags
Green List (high evidence)	DNAJB6 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Limb-Girdle Muscular Dystrophy, Dominant Muscular dystrophy, limb-girdle, type 1E, 603511 Tags
Green List (high evidence)	DNAJC12 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Other Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 Hyperphenylalaninemia, Dystonia, and Intellectual Disability Tags
Green List (high evidence)	DNAJC12 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 Tags
Green List (high evidence)	DNAJC19 Intellectual disability v9.288	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes 3-methylglutaconic aciduria, type V, 610198 Tags
Green List (high evidence)	DNAJC19 Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Expert Review Green Phenotypes 3-methylglutaconic aciduria, type V, 610198 Disorders of the mitochondrial import system 3-methylglutaconic aciduria, type V Tags
Green List (high evidence)	DNAJC5 Likely inborn error of metabolism v8.92	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 Tags
Green List (high evidence)	DNM1 Intellectual disability v9.288	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Developmental and epileptic encephalopathy 31, OMIM:616346 Tags
Green List (high evidence)	DNM1L Likely inborn error of metabolism v8.92	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	DNM1L Intellectual disability v9.288	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388 Tags
Green List (high evidence)	DNM2 Likely inborn error of metabolism v8.92	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Centronuclear myopathy 1 160150 Charcot-Marie-Tooth disease, axonal type 2M 606482 Charcot-Marie-Tooth disease, dominant intermediate B 606482 Tags
Green List (high evidence)	DNM2 Congenital myopathy v6.45	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Centronuclear myopathy 1, OMIM:160150 Lethal congenital contracture syndrome 5, OMIM:615368 Tags missense watchlist_moi
Green List (high evidence)	DNM2 Distal myopathies v6.16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Centronuclear myopathy 1, OMIM:160150 Tags
Green List (high evidence)	DNMT3A Intellectual disability v9.288	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Tatton-Brown-Rahman syndrome OMIM:615879 Heyn-Sproul-Jackson syndrome OMIM:618724 MONDO:0032882 Tags
Green List (high evidence)	DNMT3B Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 Tags
Green List (high evidence)	DOCK3 Intellectual disability v9.288	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:0032661 Tags
Green List (high evidence)	DOCK4 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes neuronevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	DOCK6 Intellectual disability v9.288	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Adams-Oliver syndrome 2, 614219 intellectual disability, developmental delay Tags
Green List (high evidence)	DOCK7 Intellectual disability v9.288	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 EIEE23 Tags
Green List (high evidence)	DOHH Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066 Tags
Green List (high evidence)	DOK7 Congenital myopathy v6.45	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Phenotypes Fetal akinesia deformation sequence 3, OMIM:618389 Myasthenic syndrome, congenital, 10, OMIM:254300 Tags
Green List (high evidence)	DOK7 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Congenital myasthenic syndrome Limb-girdle muscular dystrophy Tags
Green List (high evidence)	DOK7 Congenital myaesthenic syndrome v5.7	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Myasthenic syndrome, congenital, 10, OMIM:254300 Tags treatable
Green List (high evidence)	DOLK Congenital muscular dystrophy v6.8	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes Congenital disorder of glycosylation, type Im, OMIM:610768 Tags
Green List (high evidence)	DOLK Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION Tags
Green List (high evidence)	DOLK Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type Im 610768 Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Tags
Green List (high evidence)	DPAGT1 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates 614750 UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ij 608093 Tags
Green List (high evidence)	DPAGT1 Congenital myaesthenic syndrome v5.7	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes Myasthenic syndrome, congenital, 13, with tubular aggregates, OMIM:614750 Tags
Green List (high evidence)	DPAGT1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Congenital disorder of glycosylation, type Ij, 608093Myasthenic syndrome, congenital, with tubular aggregates 2, 614750 MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 Tags
Green List (high evidence)	DPF2 Intellectual disability v9.288	5 reviews 2 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Coffin-Siris syndrome 7, 618027 intellectual disability Tags dominant-negative
Green List (high evidence)	DPH1 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Literature Phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901 Tags
Green List (high evidence)	DPH5 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070 Tags
Green List (high evidence)	DPM1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Congenital disorder of glycosylation, type Ie, OMIM:608799 Tags
Green List (high evidence)	DPM1 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ie, OMIM:608799 GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Tags
Green List (high evidence)	DPM2 Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type Iu, OMIM:615042 Tags
Green List (high evidence)	DPM2 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Congenital disorder of glycosylation, type Iu, OMIM:615042 Tags
Green List (high evidence)	DPM2 Congenital muscular dystrophy v6.8	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Emory Genetics Laboratory Phenotypes Congenital disorder of glycosylation, type Iu, OMIM:615042 Tags
Green List (high evidence)	DPM3 Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937 Tags
Green List (high evidence)	DPM3 Congenital muscular dystrophy v6.8	9 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Emory Genetics Laboratory Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937 ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992 Tags
Green List (high evidence)	DPYD Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dihydropyrimidine dehydrogenase deficiency 274270 Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism) Tags
Green List (high evidence)	DPYD Intellectual disability v9.288	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Dihydropyrimidine dehydrogenase deficiency, 2742705-fluorouracil toxicity, 274270 Tags pharmacogenetics
Green List (high evidence)	DPYS Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dihydropyrimidinuria, OMIM:222748 Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism) Tags
Green List (high evidence)	DPYS Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Dihydropyrimidinuria, OMIM:222748 Tags
Green List (high evidence)	DPYSL5 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities Tags
Green List (high evidence)	DTNA Congenital muscular dystrophy v6.8	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes muscular dystrophy, MONDO:0020121 Tags
Green List (high evidence)	DTYMK Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Global developmental delay Intellectual disability Microcephaly Seizures Global brain atrophy Cardiorespiratory arrest Tags
Green List (high evidence)	DYM Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Dyggve-Melchior-Clausen disease, 223800Smith-McCort dysplasia, 607326 SMITH-MCCORT DYSPLASIA (SMC) Tags
Green List (high evidence)	DYM Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 Dyggve-Melchior-Clausen disease, 223800 Smith-McCort dysplasia, 607326 Tags
Green List (high evidence)	DYNC1H1 Paediatric motor neuronopathies v3.12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Phenotypes Spinal muscular atrophy, lower extremity-predominant 1, AD, OMIM:158600 Tags
Green List (high evidence)	DYNC1H1 Intellectual disability v9.288	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Mental Retardation, Dominant Charcot-Marie-Tooth disease, axonal, type 20, 614228 Mental retardation, autosomal dominant 13, 614563 Spinal muscular atrophy, lower extremity-predominant, AD, 158600 SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD Tags
Green List (high evidence)	DYRK1A Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal dominant 7, 614104 MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 Tags
Green List (high evidence)	DYSF Distal myopathies v6.16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Miyoshi muscular dystrophy 1, 254130 Tags
Green List (high evidence)	DYSF Rhabdomyolysis and metabolic muscle disorders v5.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Miyoshi muscular dystrophy 1, OMIM:254130 Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601 Myopathy, distal, with anterior tibial onset, OMIM:606768 Tags
Green List (high evidence)	DYSF Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768Miyoshi muscular dystrophy 1, 254130 Limb-Girdle Muscular Dystrophy, Recessive Limb-girdle muscular dystrophy Tags
Green List (high evidence)	EARS2 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 12, 614924 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Green List (high evidence)	EARS2 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Combined oxidative phosphorylation deficiency 12, MIM#614924 Tags
Green List (high evidence)	EBF3 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Hypotonia, ataxia, and delayed development syndrome OMIM:617330 hypotonia, ataxia, and delayed development syndrome MONDO:0015021 Tags
Green List (high evidence)	EBP Likely inborn error of metabolism v8.92	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources London North GLH NHS GMS Expert Review Green Phenotypes MEND syndrome 300960 XLR Chondrodysplasia punctata, X-linked dominant 302960 XLD X-linked dominant chondrodysplasia punctata 2 (Disorders of sterol biosynthesis) Tags
Green List (high evidence)	EBP Intellectual disability v9.288	5 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes CHONDRODYSPLASIA PUNCTATA 2, X-LINKED Tags
Green List (high evidence)	ECEL1 Congenital myopathy v6.45	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Expert Phenotypes Arthrogryposis, distal, type 5D, OMIM:615065 Tags
Green List (high evidence)	ECHS1 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277 Tags
Green List (high evidence)	EDEM3 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Congenital disorder of glycosylation, type 2V, OMIM:619493 Tags
Green List (high evidence)	EDEM3 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Other Phenotypes Congenital disorder of glycosylation, type 2V, OMIM:619493 Tags
Green List (high evidence)	EED Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes Cohen-Gibson syndrome, 617561 Human overgrowth syndrome type Overgrowth with Intellectual disability Tags
Green List (high evidence)	EEF1A2 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes INFANTILE EPILEPTIC ENCEPHALOPATHY Tags
Green List (high evidence)	EFTUD2 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mandibulofacial dysostosis, Guion-Almeida type, 610536 MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY MFDM Tags
Green List (high evidence)	EHBP1L1 Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes non-immune hydrops fetalis MONDO:0009369 Tags gene-checked
Green List (high evidence)	EHMT1 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Kleefstra syndrome, 610253 9Q SUBTELOMERIC DELETION SYNDROME (9Q- SYNDROME) Tags
Green List (high evidence)	EIF2AK2 Intellectual disability v9.288	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, OMIM:618877 Tags missense
Green List (high evidence)	EIF2AK3 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Wolcott-Rallison syndrome, 226980 WOLCOTT-RALLISON SYNDROME (WRS) Tags
Green List (high evidence)	EIF2S3 Intellectual disability v9.288	4 reviews 1 green 2 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Mental retardation, X-linked, syndromic, Borck type, 300987 Tags
Green List (high evidence)	EIF3F Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Literature Phenotypes Mental retardation, autosomal recessive 67, OMIM:618295 Tags
Green List (high evidence)	EIF4A2 Intellectual disability v9.288	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder Tags
Green List (high evidence)	EIF4A3 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Robin sequence with cleft mandible and limb anomalies, 268305 Richieri-Costa-Pereira syndrome intellectual disability Tags nucleotide-repeat-expansion
Green List (high evidence)	EIF5A Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Faundes-Banka syndrome, OMIM:619376 Tags
Green List (high evidence)	ELAC2 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY Tags
Green List (high evidence)	ELAC2 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 17, 615440 Tags
Green List (high evidence)	ELOVL4 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Stargardt disease 3, 600110Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110Ichthyosis, spastic quadriplegia, and mental retardation, 614457 ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION Tags
Green List (high evidence)	ELP2 Intellectual disability v9.288	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Mental retardation, autosomal recessive 58 617270 Tags
Green List (high evidence)	EMC1 Intellectual disability v9.288	6 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Literature Expert Review Phenotypes Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875 Tags
Green List (high evidence)	EMC10 Intellectual disability v9.288	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264 Tags
Green List (high evidence)	EMD Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked 310300 Tags
Green List (high evidence)	EMD Congenital muscular dystrophy v6.8	7 reviews 2 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, OMIM:310300 Tags Skewed X-inactivation
Green List (high evidence)	EML1 Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Band heterotopia, OMIM:600348 Tags
Green List (high evidence)	EMX2 Intellectual disability v9.288	6 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Schizencephaly, OMIM:269160 schizencephaly, MONDO:0010011 Tags Q3_25_demote_amber Q3_25_expert_review Q3_25_NHS_review
Green List (high evidence)	ENO3 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes ?Glycogen storage disease XIII Tags
Green List (high evidence)	ENO3 Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Glycogen storage disease XIII, OMIM:612932 Tags
Green List (high evidence)	ENTPD1 Intellectual disability v9.288	6 reviews 3 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spastic paraplegia 64, autosomal recessive, OMIM:615683 Tags
Green List (high evidence)	EOGT Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Adams-Oliver syndrome 4 OMIM:615297 Adams-Oliver syndrome 4 MONDO:0014124 Tags
Green List (high evidence)	EP300 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes RUBINSTEIN-TAYBI SYNDROME TYPE 2 (RSTS2) Tags
Green List (high evidence)	EPG5 Congenital myopathy v6.45	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes Vici syndrome, OMIM:242840 Tags
Green List (high evidence)	EPG5 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM Tags
Green List (high evidence)	EPG5 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Vici syndrome, 242840 IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM Tags
Green List (high evidence)	EPM2A Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Myoclonic epilepsy of Lafora 1, OMIM:254780 Tags
Green List (high evidence)	ERBB4 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes intellectual disability MONDO:0001071 Tags
Green List (high evidence)	ERCC1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebrooculofacioskeletal syndrome 4, OMIM:610758 Tags
Green List (high evidence)	ERCC2 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Xeroderma pigmentosum, group D, 278730Trichothiodystrophy, 601675Cerebrooculofacioskeletal syndrome 2, 610756 CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 (COFS2) Tags
Green List (high evidence)	ERCC3 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Xeroderma pigmentosum, group B, 610651Trichothiodystrophy, 601675 XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B (XP-B) Tags
Green List (high evidence)	ERCC5 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Xeroderma pigmentosum, group G, 278780Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G (XP-G) Tags
Green List (high evidence)	ERCC6 Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes De Sanctis-Cacchione syndrome, OMIM:278800 Tags
Green List (high evidence)	ERCC6L2 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bone marrow failure syndrome 2, 615715 Tags
Green List (high evidence)	ERCC8 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cockayne syndrome, type A, 216400UV-sensitive syndrome 2, 614621 COCKAYNE SYNDROME TYPE A (CSA) Tags
Green List (high evidence)	ERI1 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes intellectual disability, MONDO:0001071 Tags
Green List (high evidence)	ERLIN2 Intellectual disability v9.288	5 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 18, autosomal recessive, 611225 intellectual disability AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Green List (high evidence)	ESAM Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Literature Phenotypes Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371 Tags
Green List (high evidence)	ESCO2 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Roberts syndrome, 268300SC phocomelia syndrome, 269000 SC PHOCOMELIA SYNDROME (SCPS) Tags
Green List (high evidence)	ETFA Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Glutaric acidemia IIA, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
Green List (high evidence)	ETFA Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glutaric acidemia IIA, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
Green List (high evidence)	ETFA Rhabdomyolysis and metabolic muscle disorders v5.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Literature UKGTN Phenotypes Glutaric acidemia IIA, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
Green List (high evidence)	ETFB Rhabdomyolysis and metabolic muscle disorders v5.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Emory Genetics Laboratory UKGTN Phenotypes Glutaric acidemia IIB, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
Green List (high evidence)	ETFB Likely inborn error of metabolism v8.92	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Glutaric acidemia IIB, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
Green List (high evidence)	ETFB Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glutaric acidemia IIB, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
Green List (high evidence)	ETFDH Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GLUTARIC ACIDURIA TYPE 2C Tags
Green List (high evidence)	ETFDH Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) GLUTARIC ACIDURIA TYPE 2C Glutaric acidemia IIC Disorders of ubiquinone metabolism and biosynthesis ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation) Tags
Green List (high evidence)	ETFDH Rhabdomyolysis and metabolic muscle disorders v5.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glutaric acidemia IIC 231680 Tags
Green List (high evidence)	ETHE1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ethylmalonic encephalopathy, 602473 ETHYLMALONIC ENCEPHALOPATHY Tags
Green List (high evidence)	ETHE1 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ethylmalonic encephalopathy, 602473 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Isolated complex IV deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Ethylmalonic encephalopathy Tags
Green List (high evidence)	EXOSC3 Paediatric motor neuronopathies v3.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pontocerebellar hypoplasia, type 1B, OMIM:614678 Tags
Green List (high evidence)	EXOSC3 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pontocerebellar hypoplasia, type 1B, OMIM:614678 Tags
Green List (high evidence)	EXT1 Likely inborn error of metabolism v8.92	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Expert Review Green Phenotypes Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) Exostoses, multiple, type 1 133700 Tags
Green List (high evidence)	EXT2 Likely inborn error of metabolism v8.92	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) Exostoses, multiple, type 2 133701 ?Seizures, scoliosis, and macrocephaly syndrome 616682 Tags
Green List (high evidence)	EXT2 Intellectual disability v9.288	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Seizures, scoliosis, and macrocephaly syndrome, 616682 autosomal recessive EXT2-related syndrome Tags
Green List (high evidence)	EXTL3 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425 Tags
Green List (high evidence)	EZH1 Intellectual disability v9.288	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	EZH2 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes WEAVER SYNDROME 2 Tags
Green List (high evidence)	FA2H Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list London North GLH NHS GMS Expert Review Green Phenotypes Spastic paraplegia 35, autosomal recessive, OMIM:612319 hereditary spastic paraplegia 35, MONDO:0012866 Tags
Green List (high evidence)	FAH Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Tyrosinemia, type I Tags
Green List (high evidence)	FAM126A Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 5, 610532 LEUKODYSTROPHY HYPOMYELINATING TYPE 5 (HLD5) Tags new-gene-name
Green List (high evidence)	FAM177A1 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	FAM20C Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes RAINE SYNDROME Tags
Green List (high evidence)	FAM50A Intellectual disability v9.288	3 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Mental retardation syndrome, X-linked, Armfield type, OMIM:300261 Armfield syndrome, MONDO:0010284 Tags
Green List (high evidence)	FAR1 Intellectual disability v9.288	6 reviews 5 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 Tags
Green List (high evidence)	FARS2 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Expert Review Literature Phenotypes Spastic paraplegia 77, autosomal recessive, 617046 Combined oxidative phosphorylation deficiency 14, 614946 Tags
Green List (high evidence)	FARS2 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Combined oxidative phosphorylation deficiency 14, 614946 Tags
Green List (high evidence)	FARSA Intellectual disability v9.288	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013 Tags
Green List (high evidence)	FASTKD2 Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 44, OMIM:618855 Tags
Green List (high evidence)	FAT4 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PERIVENTRICULAR NEURONAL HETEROTOPIA Tags
Green List (high evidence)	FBP1 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen Storage Disease Glycogen Storage Disorders- Liver Fructose-1,6-bisphosphatase deficiency (Disorders of gluconeogenesis) Tags
Green List (high evidence)	FBRSL1 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability Microcephaly Heart defect Cleft palate Contractures Hearing impairment Skin creases Tags gene-checked
Green List (high evidence)	FBXL3 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Literature Phenotypes Short stature Intellectual developmental disorder with short stature, facial anomalies, and speech defects, 606220 Intellectual disability Tags
Green List (high evidence)	FBXL4 Intellectual disability v9.288	6 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471 mitochondrial DNA depletion syndrome 13 MONDO:0014198 Tags
Green List (high evidence)	FBXL4 Likely inborn error of metabolism v8.92	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471 mitochondrial DNA depletion syndrome 13 MONDO:0014198 Tags
Green List (high evidence)	FBXO11 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089 Tags
Green List (high evidence)	FBXO28 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes Developmental and epileptic encephalopathy 100, OMIM:619777 developmental and epileptic encephalopathy 100, MONDO:0030695 Tags
Green List (high evidence)	FBXO31 Intellectual disability v9.288	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ?Mental retardation, autosomal recessive 45, OMIM:615979 Intellectual disability, autosomal dominant Tags
Green List (high evidence)	FBXW11 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914 neurodevelopmental, jaw, eye, and digital syndrome, MONDO:003005 Tags
Green List (high evidence)	FBXW7 Intellectual disability v9.288	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes Developmental delay, hypotonia, and impaired language, OMIM:620012 Tags
Green List (high evidence)	FDX2 Rhabdomyolysis and metabolic muscle disorders v5.14	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900 mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 Tags
Green List (high evidence)	FDX2 Likely inborn error of metabolism v8.92	6 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900 mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 Tags
Green List (high evidence)	FDXR Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Expert list Phenotypes Auditory neuropathy and optic atrophy, OMIM:617717 Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887 Tags
Green List (high evidence)	FECH Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Protoporphyria, erythropoietic, 1, OMIM:177000 protoporphyria, erythropoietic, 1, MONDO:0008319 Tags
Green List (high evidence)	FEM1B Intellectual disability v9.288	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	FGD1 Intellectual disability v9.288	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Aarskog-Scott syndrome, 305400Mental retardation, X-linked syndromic 16, 305400 AARSKOG-SCOTT SYNDROME (AAS) Tags
Green List (high evidence)	FGF12 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Epileptic encephalopathy, early infantile, 47, 617166 Tags
Green List (high evidence)	FGFR2 Likely inborn error of metabolism v8.92	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 Apert syndrome 101200 Beare-Stevenson cutis gyrata syndrome 123790 Bent bone dysplasia syndrome 614592 Craniofacial-skeletal-dermatologic dysplasia 101600 Craniosynostosis, nonspecific Crouzon syndrome 123500 Gastric cancer, somatic 613659 Jackson-Weiss syndrome 123150 LADD syndrome 149730 Pfeiffer syndrome 101600 Saethre-Chotzen syndrome 101400 Scaphocephaly and Axenfeld-Rieger anomaly Scaphocephaly, maxillary retrusion, and mental retardation 609579 Tags
Green List (high evidence)	FH Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Fumarase deficiency, OMIM:606812 Disorders of the citric acid cycle Tags
Green List (high evidence)	FH Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Fumarase deficiency, OMIM:606812 Tags
Green List (high evidence)	FHL1 Congenital muscular dystrophy v6.8	3 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Expert Review Phenotypes Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, OMIM:300717 Tags
Green List (high evidence)	FHL1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Phenotypes Emery-Dreifuss muscular dystrophy Tags
Green List (high evidence)	FHL1 Distal myopathies v6.16	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 Review Phenotypes Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 Tags
Green List (high evidence)	FIBP Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Literature Phenotypes Thauvin-Robinet-Faivre syndrome, OMIM:617107 tall stature-intellectual disability-renal anomalies syndrome, MONDO:0014918 Tags
Green List (high evidence)	FIG4 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Charcot-Marie-Tooth disease, type 4J, OMIM:611228 Charcot-Marie-Tooth disease type 4J MONDO:0012640 Yunis Varon syndrome OMIM:216340 Yunis-Varon syndrome MONDO:0008995 Tags
Green List (high evidence)	FILIP1 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes intellectual disability, MONDO:0001071 Tags
Green List (high evidence)	FKBP14 Congenital myopathy v6.45	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557 Tags
Green List (high evidence)	FKRP Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Limb-girdle muscular dystrophy Tags
Green List (high evidence)	FKRP Rhabdomyolysis and metabolic muscle disorders v5.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 Tags
Green List (high evidence)	FKRP Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5,606612Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C5 (MDDGC5) Tags
Green List (high evidence)	FKRP Congenital muscular dystrophy v6.8	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, OMIM:613153 Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5, OMIM:606612 Tags
Green List (high evidence)	FKRP Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612 Fukutin-related protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153 Tags
Green List (high evidence)	FKTN Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800 Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152 Cardiomyopathy, dilated, 1X, 611615 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 Limb-girdle muscular dystrophy Tags
Green List (high evidence)	FKTN Congenital muscular dystrophy v6.8	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, OMIM:253800 Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4, OMIM:613152 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, OMIM:611588 Tags structural-variant
Green List (high evidence)	FKTN Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152Cardiomyopathy, dilated, 1X, 611615Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4 (MDDGB4) Tags
Green List (high evidence)	FKTN Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588 Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green List (high evidence)	FLAD1 Likely inborn error of metabolism v8.92	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Multiple acyl-CoA dehydrogenase deficiencies (MADDs) Tags
Green List (high evidence)	FLAD1 Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Expert list Phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, OMIM:255100 Tags
Green List (high evidence)	FLNC Distal myopathies v6.16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Myopathy, distal, 4, OMIM:614065 Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550 Myopathy, myofibrillar, 5, OMIM:609524 Myopathy, myofibrillar, 5, MONDO:0012289 Tags
Green List (high evidence)	FLNC Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Emory Genetics Laboratory Phenotypes Myopathy, distal, 4, OMIM:614065 Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550 Myopathy, myofibrillar, 5, OMIM:609524 Myopathy, myofibrillar, 5, MONDO:0012289 Tags
Green List (high evidence)	FLVCR2 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME Tags
Green List (high evidence)	FMN2 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes NONSYNDROMIC AUTOSOMAL-RECESSIVE INTELLECTUAL DISABILITY Tags
Green List (high evidence)	FMO3 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Trimethylaminuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) Tags
Green List (high evidence)	FMR1 Intellectual disability v9.288	5 reviews 4 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 UKGTN Phenotypes Fragile X syndrome, OMIM:300624 Fragile X tremor/ataxia syndrome, OMIM:300623 Tags nucleotide-repeat-expansion
Green List (high evidence)	FMR1_CGG STR Intellectual disability v9.288	3 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Expert list Phenotypes Fragile X syndrome, OMIM:300624 Fragile X tremor/ataxia syndrome, OMIM:300623 Tags STR
Green List (high evidence)	FOLR1 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068 Cerebral folate deficiency due to FOLR1 deficiency (Disorders of folate metabolism and transport) Tags
Green List (high evidence)	FOLR1 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY Tags
Green List (high evidence)	FOSL2 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Aplasia cutis-enamel dysplasia syndrome, OMIM:620789 Tags
Green List (high evidence)	FOXG1 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Rett Syndrome, congenital variant OMIM:613454 Rett syndrome, congenital variant MONDO:0013270 Tags
Green List (high evidence)	FOXP1 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Mental retardation with language impairment and autistic features, 613670 Mental Retardation with Language Impairment and Autistic Features MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES (MRLIAF) Tags
Green List (high evidence)	FOXP2 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Emory Genetics Laboratory Phenotypes Speech-Language Disorder 1 SPEECH-LANGUAGE DISORDER 1 Tags
Green List (high evidence)	FOXRED1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 19, OMIM:618241 mitochondrial complex 1 deficiency, nuclear type 19, MONDO:0032624 Tags
Green List (high evidence)	FOXRED1 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial Diseases Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010 Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green List (high evidence)	FRA10AC1 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, OMIM:620113 Tags
Green List (high evidence)	FRMD5 Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with eye movement abnormalities and ataxia, OMIM:620094 Tags
Green List (high evidence)	FRMPD4 Intellectual disability v9.288	7 reviews 1 green 2 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Mental retardation, X-linked 104, 300983 global developmental delay intellectual disability Tags
Green List (high evidence)	FTCD Intellectual disability v9.288	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY (FIGLU-URIA) Tags ngs-false-positive-region
Green List (high evidence)	FTCD Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glutamate formiminotransferase deficiency 229100 Tags
Green List (high evidence)	FTSJ1 Intellectual disability v9.288	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 9, 309549 MENTAL RETARDATION X-LINKED TYPE 44 (MRX44) Tags
Green List (high evidence)	FUCA1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Fucosidosis, 230000 FUCOSIDOSIS (FUCA1D) intellectual disability Tags
Green List (high evidence)	FUCA1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Fucosidosis, 230000 Tags
Green List (high evidence)	FUK Intellectual disability v9.288	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Expert Review Literature Phenotypes Congenital disorder of glycosylation with defective fucosylation 2, OMIM:618324 Tags new-gene-name
Green List (high evidence)	FUK Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324 congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777 Tags new-gene-name
Green List (high evidence)	FUT8 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Phenotypes Congenital disorder of glycosylation with defective fucosylation, 618005 Tags
Green List (high evidence)	FUT8 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Literature Phenotypes Congenital disorder of glycosylation with defective fucosylation, 618005 Intellectual disability Tags
Green List (high evidence)	FXN Likely inborn error of metabolism v8.92	7 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Friedreich ataxia OMIM:229300 Friedreich ataxia with retained reflexes OMIM:229300 Friedreich ataxia 1 MONDO:0100340 Tags nucleotide-repeat-expansion
Green List (high evidence)	FXN_GAA STR Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Friedreich ataxia OMIM:229300 Friedreich ataxia with retained reflexes OMIM:229300 Friedreich ataxia 1 MONDO:0100340 Tags STR
Green List (high evidence)	FXR1 Congenital myopathy v6.45	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Myopathy, congenital proximal, with minicore lesions, OMIM:618823 Myopathy, congenital, with respiratory insufficiency and bone fractures, OMIM:618822 Tags
Green List (high evidence)	FZR1 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Developmental and epileptic encephalopathy 109, OMIM:620145 Tags
Green List (high evidence)	G6PC Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen storage disease Ia, OMIM:232200 Tags new-gene-name
Green List (high evidence)	G6PC3 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dursun syndrome Tags
Green List (high evidence)	GAA Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Glycogen storage disease II 232300 Tags
Green List (high evidence)	GAA Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen storage disease II, 232300 Tags
Green List (high evidence)	GAA Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Glycogen storage disease II 232300 Tags
Green List (high evidence)	GABBR2 Intellectual disability v9.288	6 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Developmental and epileptic encephalopathy 59, OMIM:617904 eurodevelopmental disorder with poor language and loss of hand skills, OMIM:617903 Tags missense
Green List (high evidence)	GABRA1 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes JUVENILE MYOCLONIC EPILEPSY Tags
Green List (high evidence)	GABRA2 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 78, 618557 intellectual disability developmental delay Tags missense
Green List (high evidence)	GABRA5 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 79, 618559 developmental delay Tags
Green List (high evidence)	GABRB2 Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, infantile or early childhood, 2, 617829 intellectual disability Tags
Green List (high evidence)	GABRB3 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes CHILDHOOD ABSENCE EPILEPSY TYPE 5 Tags
Green List (high evidence)	GABRD Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes {Epilepsy, idiopathic generalized, 10}, OMIM:613060 {Epilepsy, juvenile myoclonic, susceptibility to}, OMIM:613060 Tags
Green List (high evidence)	GABRG2 Likely inborn error of metabolism v8.92	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Febrile seizures, familial, 8 611277 Epilepsy, generalized, with febrile seizures plus, type 3 611277 {Epilepsy, childhood absence, susceptibility to, 2} 607681 Tags
Green List (high evidence)	GABRG2 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Epilepsy, generalized, with febrile seizures plus, type 3 611277 Febrile seizures, familial, 8 611277 {Epilepsy, childhood absence, susceptibility to, 2} 607681 Tags
Green List (high evidence)	GAD1 Intellectual disability v9.288	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes ?Cerebral palsy, spastic quadriplegic, 1 603513 Developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele Tags
Green List (high evidence)	GALC Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Krabbe disease, OMIM:245200 Tags
Green List (high evidence)	GALC Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Krabbe disease, OMIM:245200 Tags
Green List (high evidence)	GALE Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Galactose epimerase deficiency, 230350 EPIMERASE-DEFICIENCY GALACTOSEMIA (EDG) Tags
Green List (high evidence)	GALE Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Intellectual disability Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism) Galactose epimerase deficiency, OMIM:230350 MONDO:0009257 Tags
Green List (high evidence)	GALK1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Galactokinase deficiency with cataracts, 230200 Tags
Green List (high evidence)	GALM Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Phenotypes Galactosemia IV, OMIM:618881 MONDO:0030105 Tags
Green List (high evidence)	GALNS Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 4A Mucopolysaccharidosis Type IVA Mucopolysaccharidosis IVA, 253000 Mucopolysaccharidosis, Type IV MPS IVA, Morquio A disease (MPS IV, Morquio disease) Tags
Green List (high evidence)	GALNT2 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IIt 618885 Tags
Green List (high evidence)	GALNT2 Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IIt 618885 Tags
Green List (high evidence)	GALNT3 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) Tumoral calcinosis, hyperphosphatemic, familial 211900 Tags
Green List (high evidence)	GALT Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Galactosemia, OMIM:230400 Tags
Green List (high evidence)	GALT Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Galactosemia, OMIM:230400 Tags
Green List (high evidence)	GAMT Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cerebral creatine deficiency syndrome 2, 612736 GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY (GAMT DEFICIENCY) Tags
Green List (high evidence)	GAMT Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cerebral creatine deficiency syndrome 2 612736 Tags
Green List (high evidence)	GAN Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Giant axonal neuropathy-1, OMIM:256850 Tags
Green List (high evidence)	GARS Likely inborn error of metabolism v8.92	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Charcot-Marie-Tooth disease, type 2D Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Neuropathy, distal hereditary motor, type VA Tags new-gene-name
Green List (high evidence)	GATAD2B Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal dominant 18, 615074 NONSPECIFIC SEVERE ID Tags
Green List (high evidence)	GATM Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cerebral creatine deficiency syndrome 3, OMIM:612718 Tags
Green List (high evidence)	GATM Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Arginine:glycine amidinotransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) arginine:glycine amidinotransferase deficiency Cerebral creatine deficiency syndrome 3, 612718 Tags
Green List (high evidence)	GBA Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Gaucher disease, perinatal lethal, 608013 Gaucher disease, type III, 231000 Gaucher disease, type II, 230900 Gaucher disease, type I, 230800 Gaucher disease, type IIIC, 231005 Gaucher disease Gaucher disease (Sphingolipidoses) Tags new-gene-name
Green List (high evidence)	GBE1 Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Glycogen storage disease IV, OMIM:232500 Tags
Green List (high evidence)	GBE1 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen storage disease IV, OMIM:232500 Polyglucosan body disease, adult form, OMIM:263570 Tags
Green List (high evidence)	GBE1 Congenital myopathy v6.45	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Literature Phenotypes arthrogryposis multiplex congenita foetal akinesias fetal akinesia deformation sequence severe congenital myopathy multiple pterygium syndrome Tags
Green List (high evidence)	GCDH Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GLUTARICACIDEMIA TYPE 1 Tags
Green List (high evidence)	GCDH Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glutaricaciduria, type I, 231670 Tags
Green List (high evidence)	GCH1 Intellectual disability v9.288	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230Hyperphenylalaninemia, BH4-deficient, B, 233910 DYSTONIA TYPE 5 (DYT5) Tags
Green List (high evidence)	GCH1 Likely inborn error of metabolism v8.92	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia Tags
Green List (high evidence)	GCLC Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Gamma-glutamylcysteine synthetase deficiency (Disorders of the gamma-glutamyl cycle) Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450 Tags
Green List (high evidence)	GCSH Likely inborn error of metabolism v8.92	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Multiple mitochondrial dysfunctions syndrome 7, OMIM:620423 Glycine encephalopathy Transient neonatal hyperglycinemia Tags
Green List (high evidence)	GCSH Intellectual disability v9.288	5 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Multiple mitochondrial dysfunctions syndrome 7, OMIM:620423 Glycine encephalopathy Transient neonatal hyperglycinemia Tags
Green List (high evidence)	GDAP1 Likely inborn error of metabolism v8.92	4 reviews 2 green 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706 Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340 Charcot-Marie-Tooth disease, type 4A, OMIM:214400 Tags
Green List (high evidence)	GDI1 Intellectual disability v9.288	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 41, 300849 MENTAL RETARDATION X-LINKED TYPE 41 (MRX41) Tags
Green List (high evidence)	GEMIN4 Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Literature Phenotypes Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913 Tags founder-effect
Green List (high evidence)	GEMIN5 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM:619333 Tags
Green List (high evidence)	GFAP Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Alexander disease, 203450 ALEXANDER DISEASE Tags
Green List (high evidence)	GFER Intellectual disability v9.288	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 Intellectual disability Tags
Green List (high evidence)	GFER Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Disorders of the mitochondrial import system Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076 Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	GFER Congenital myopathy v6.45	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Myopathy, mitochondrial progressive, with congenital cataract and developmental delay, OMIM:613076 Tags
Green List (high evidence)	GFM1 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 Tags
Green List (high evidence)	GFM1 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 1, 609060 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	GFM2 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 39, OMIM:618397 Tags
Green List (high evidence)	GFPT1 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542 Congenital myasthenic sydrome (Disorders of protein N-glycosylation) Tags
Green List (high evidence)	GFPT1 Congenital myaesthenic syndrome v5.7	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542 Tags
Green List (high evidence)	GGPS1 Congenital muscular dystrophy v6.8	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518 Tags
Green List (high evidence)	GIF Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Intrinsic factor deficiency Tags new-gene-name
Green List (high evidence)	GJC2 Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 2, OMIM:608804 Tags
Green List (high evidence)	GK Likely inborn error of metabolism v8.92	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycerol kinase deficiency 307030 Tags
Green List (high evidence)	GK Intellectual disability v9.288	4 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Glycerol kinase deficiency, 307030 GLYCEROL KINASE DEFICIENCY Tags
Green List (high evidence)	GLA Likely inborn error of metabolism v8.92	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources London North GLH NHS GMS Expert Review Green Phenotypes Fabry disease, cardiac variant, 301500 Fabry Disease Fabry disease (Sphingolipidoses) Fabry disease, 301500 Tags
Green List (high evidence)	GLB1 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 4B MPS IVB, Morquio B disease (MPS IV, Morquio disease) Mucopolysaccharidosis type IVB (Morquio), 253010 GM1-gangliosidosis (Sphingolipidoses) GM1-gangliosidosis, type II, 230600 GM1-gangliosidosis, type III, 230650 Mucopolysaccharidosis, Type IV Mucopolysaccharidosis Type IVB GM1-gangliosidosis, type I, 230500 Tags
Green List (high evidence)	GLB1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes GM1-gangliosidosis, type I, 230500GM1-gangliosidosis, type II, 230600GM1-gangliosidosis, type III, 230650Mucopolysaccharidosis type IVB (Morquio), 253010 MUCOPOLYSACCHARIDOSIS TYPE 4B (MPS4B) Tags
Green List (high evidence)	GLDC Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Glycine encephalopathy, 605899 GLDC-RELATED GLYCINE ENCEPHALOPATHY Tags
Green List (high evidence)	GLDC Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycine encephalopathy, 605899 Tags
Green List (high evidence)	GLI2 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Holoprosencephaly-9, 610829 GLI2-RELATED HOLOPROSENCEPHALY Tags
Green List (high evidence)	GLIS3 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 Tags
Green List (high evidence)	GLRA1 Likely inborn error of metabolism v8.92	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperekplexia, hereditary 1, 149400 Tags
Green List (high evidence)	GLRA2 Intellectual disability v9.288	5 reviews 3 green 2 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes Intellectual developmental disorder, X-linked syndromic, Pilorge type, OMIM:301076 intellectual developmental disorder, X-linked, syndromic, Pilorge type, MONDO:0024772 Tags Autism Spectrum Disorder
Green List (high evidence)	GLRX5 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 Disorders of iron homeostasis Tags
Green List (high evidence)	GLS Likely inborn error of metabolism v8.92	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 Developmental and epileptic encephalopathy 71, OMIM:618328 ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339 Tags STR watchlist_moi
Green List (high evidence)	GLUD1 Likely inborn error of metabolism v8.92	5 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias) Hyperinsulinism-hyperammonemia syndrome, 606762 Tags
Green List (high evidence)	GLUL Intellectual disability v9.288	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Glutamine deficiency, congenital, OMIM:610015 Developmental and epileptic encephalopathy 116, OMIM:620806 congenital brain dysgenesis due to glutamine synthetase deficiency, MONDO:0012393 developmental and epileptic encephalopathy 116, MONDO:0970945 Tags Q1_26_MOI
Green List (high evidence)	GLUL Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glutamine deficiency, congenital 610015 Tags
Green List (high evidence)	GLYCTK Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes D-glyceric aciduria 220120 D-glyceric aciduria (Disorders of serine, glycine or glycerate metabolism) Tags
Green List (high evidence)	GLYCTK Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Phenotypes D-glyceric aciduria 220120 Tags treatable
Green List (high evidence)	GM2A Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes GM2-gangliosidosis, AB variant, 272750 GM2-GANGLIOSIDOSIS TYPE AB (GM2GAB) Tags
Green List (high evidence)	GM2A Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes GM2-gangliosidosis, AB variant, 272750 Tags
Green List (high evidence)	GMPPA Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION Tags
Green List (high evidence)	GMPPA Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Alacrima, achalasia, and mental retardation syndrome (MIM# 615510) Tags
Green List (high evidence)	GMPPB Rhabdomyolysis and metabolic muscle disorders v5.14	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142 Tags
Green List (high evidence)	GMPPB Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142 Tags
Green List (high evidence)	GMPPB Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142 Tags
Green List (high evidence)	GMPPB Congenital myaesthenic syndrome v5.7	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Eligibility statement prior genetic testing Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142 Tags
Green List (high evidence)	GMPPB Intellectual disability v9.288	6 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142 Tags
Green List (high evidence)	GMPPB Congenital muscular dystrophy v6.8	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, OMIM:615350 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14, OMIM:615351 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, OMIM:615352 Tags
Green List (high evidence)	GNAI1 Intellectual disability v9.288	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 Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, OMIM:619854 Tags
Green List (high evidence)	GNAI2 Intellectual disability v9.288	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Syndromic intellectual disability Tags
Green List (high evidence)	GNAO1 Intellectual disability v9.288	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY Neurodevelopmental disorder with involuntary movements, 617493 Epileptic encephalopathy, early infantile, 17, 615473 Tags
Green List (high evidence)	GNAS Intellectual disability v9.288	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Pseudohypoparathyroidism Ia, OMIM:103580 pseudohypoparathyroidism type 1A, MONDO:0007078 Pseudohypoparathyroidism Ic, OMIM:612462 pseudohypoparathyroidism type 1C, MONDO:0012911 Pseudopseudohypoparathyroidism, OMIM:612463 pseudopseudohypoparathyroidism, MONDO:0012912 Tags mosaicism
Green List (high evidence)	GNB1 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Other Phenotypes Mental retardation, autosomal dominant 42 OMIM:616973 intellectual disability, autosomal dominant 42 MONDO:0014855 Tags
Green List (high evidence)	GNB2 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and dysmorphic facies, OMIM:619503 Tags
Green List (high evidence)	GNB5 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Literature Phenotypes Intellectual developmental disorder with cardiac arrhythmia, OMIM:617173 Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, OMIM:617182 Tags
Green List (high evidence)	GNE Likely inborn error of metabolism v8.92	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Sialuria OMIM:269921 sialuria MONDO:0010028 Nonaka myopathy OMIM:605820 GNE myopathy MONDO:0011603 Tags
Green List (high evidence)	GNE Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS South West GLH UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Nonaka myopathy, 605820 Distal myopathy Limb girdle muscular dystrophy Limb-girdle muscular dystrophy quadriceps sparing myopathy distal myopathy Nonaka myopathy, HIBM Tags
Green List (high evidence)	GNE Distal myopathies v6.16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Nonaka myopathy, 605820 Tags
Green List (high evidence)	GNMT Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycine N-methyltransferase deficiency 606664 Tags
Green List (high evidence)	GNPAT Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Rhizomelic chondrodysplasia punctata type 2 (Peroxisomal disorders) Rhizomelic chondrodysplasia punctata, type 2 222765 Tags
Green List (high evidence)	GNPAT Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Chondrodysplasia punctata, rhizomelic, type 2, 222765 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 (RCDP2) Tags
Green List (high evidence)	GNPTAB Intellectual disability v9.288	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes MUCOLIPIDOSIS TYPE II (MLII) Tags
Green List (high evidence)	GNPTAB Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mucolipidosis, Type II Mucolipidosis, Type III Alpha/Beta Mucolipidosis III alpha/beta Mucolipidosis II, I-cell disease (Other lysosomal disorders) Mucolipidosis II alpha/beta Tags
Green List (high evidence)	GNPTG Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mucolipidosis III, Pseudo-Hurler polydystrophy (Other lysosomal disorders) mucolipidpsis type III complementation group C Mucolipidosis, Type III Gamma Mucolipidosis III gamma Tags
Green List (high evidence)	GNPTG Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C (MLIIIC) Tags
Green List (high evidence)	GNS Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mucopolysaccharidosis type IIID, OMIM:252940 Tags
Green List (high evidence)	GNS Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mucopolysaccharidosis type IIID, OMIM:252940 Tags
Green List (high evidence)	GOLGA2 Congenital muscular dystrophy v6.8	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Phenotypes Developmental delay with hypotonia, myopathy, and brain abnormalities, OMIM:620240 Tags
Green List (high evidence)	GORAB Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Geroderma osteodysplasticum OMIM:231070 geroderma osteodysplastica MONDO:0009271 Tags
Green List (high evidence)	GOSR2 Congenital muscular dystrophy v6.8	7 reviews 5 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Phenotypes Muscular dystrophy, congenital, with or without seizures, OMIM:620166 Tags
Green List (high evidence)	GPAA1 Intellectual disability v9.288	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Other Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 global developmental delay Tags
Green List (high evidence)	GPC3 Intellectual disability v9.288	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 Simpson-Golabi-Behmel syndrome, type 1, 312870Wilms tumor, somatic, 194070 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 Tags
Green List (high evidence)	GPC4 Intellectual disability v9.288	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Green Expert list Phenotypes Keipert syndrome OMIM# 301026 Tags Skewed X-inactivation
Green List (high evidence)	GPD1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Phenotypes Hypertriglyceridemia, transient infantile, 614480 Tags
Green List (high evidence)	GPHN Likely inborn error of metabolism v8.92	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Molybdenum cofactor deficiency C, OMIM:615501 Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism) Tags
Green List (high evidence)	GPIHBP1 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Hyperlipoproteinemia, type 1D OMIM:615947 hyperlipoproteinemia, type 1D MONDO:0014412 Tags
Green List (high evidence)	GPT2 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Expert Review Literature Phenotypes Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281 Tags
Green List (high evidence)	GRHPR Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Primary hyperoxaluria type II (Disorders of glyoxylate metabolism) Hyperoxaluria, primary, type II Tags
Green List (high evidence)	GRIA1 Intellectual disability v9.288	7 reviews 3 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Intellectual developmental disorder, autosomal dominant 67, OMIM:619927 ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 Tags watchlist_moi
Green List (high evidence)	GRIA2 Intellectual disability v9.288	9 reviews 3 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Neurodevelopmental disorder with language impairment and behavioral abnormalities, OMIM:618917 neurodevelopmental disorder with language impairment and behavioral abnormalities, MONDO:0030060 Tags
Green List (high evidence)	GRIA3 Intellectual disability v9.288	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 94, 300699 MENTAL RETARDATION X-LINKED TYPE 94 (MRX94) Tags
Green List (high evidence)	GRIA4 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 Tags
Green List (high evidence)	GRID2 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spinocerebellar ataxia, autosomal recessive 18, 616204 Tags
Green List (high evidence)	GRIK2 Intellectual disability v9.288	6 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal recessive, 6, OMIM:611092 non-syndromic neurodevelopmental disorder (NDD), autosomal dominant Tags
Green List (high evidence)	GRIN1 Intellectual disability v9.288	5 reviews 1 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254 intellectual disability, autosomal dominant 8 MONDO:0013655 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629 Tags
Green List (high evidence)	GRIN2A Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Epilepsy with neurodevelopmental defects, 613971 EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS Tags
Green List (high evidence)	GRIN2B Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970 Developmental and epileptic encephalopathy 27, OMIM:616139 Tags
Green List (high evidence)	GRIN2D Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 46, 617162 intellectual disability Tags
Green List (high evidence)	GRM1 Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spinocerebellar ataxia, autosomal recessive 13, OMIM:614831 Tags
Green List (high evidence)	GRM7 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922 Tags
Green List (high evidence)	GRN Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ceroid lipofuscinosis, neuronal, 11 OMIM:614706 neuronal ceroid lipofuscinosis 11 MONDO:0013866 Tags
Green List (high evidence)	GSS Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glutathione synthetase (GSS) deficiency Glutathione synthetase deficiency 266130 Glutathione synthetase deficiency with 5-oxoprolinuria Glutathione synthetase deficiency without 5-oxoprolinuria Pyroglutamic aciduria 5-oxoprolinuria Hemolytic anemia due to glutathione synthetase deficiency 231900 Glutathione synthetase deficiency (Disorders of the gamma-glutamyl cycle) Fanconi nephropathy Tags
Green List (high evidence)	GSTZ1 Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Eligibility statement prior genetic testing Expert Review Literature Phenotypes [Maleylacetoacetate isomerase deficiency], OMIM:617596 Tags
Green List (high evidence)	GTF2E2 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Trichothiodystrophy 6, nonphotosensitive, OMIM:616943 Tags
Green List (high evidence)	GTF2H5 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Trichothiodystrophy, complementation group A, 601675 TRICHOTHIODYSTROPHY PHOTOSENSITIVE Tags
Green List (high evidence)	GTF3C5 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	GTPBP2 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Jaberi-Elahi syndrome, 617988 Global developmental delay Intellectual disability Seizures Tags
Green List (high evidence)	GTPBP3 Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 23 616198 Tags
Green List (high evidence)	GTPBP3 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY Tags
Green List (high evidence)	GUSB Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 7 Mucopolysaccharidosis VII, 253220 MPS VII, Sly disease (MPS IV, Morquio disease) Mucopolysaccharidosis Type VII Mucopolysaccharidosis, Type VII Tags
Green List (high evidence)	GUSB Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mucopolysaccharidosis VII, 253220 MUCOPOLYSACCHARIDOSIS TYPE 7 (MPS7) Tags
Green List (high evidence)	GYG1 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes ?Glycogen storage disease XV Tags
Green List (high evidence)	GYG1 Rhabdomyolysis and metabolic muscle disorders v5.14	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green UKGTN Phenotypes ?Glycogen storage disease XV 613507 Polyglucosan body myopathy 2 616199 Tags
Green List (high evidence)	GYS1 Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glycogen storage disease 0, muscle, OMIM:611556 Tags
Green List (high evidence)	GYS1 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen storage disease 0, muscle Tags
Green List (high evidence)	GYS2 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen Storage Disease Glycogen Storage Disease Type 0, Liver Glycogen Storage Disorders- Liver Glycogen storage disease type 0a, liver (Glycogen storage disorders) Glycogen storage disease, type 0, 240600 fasting intolerance without enlarged liver Tags
Green List (high evidence)	H3F3A Intellectual disability v9.288	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental delay Intellectual disability Neurodegeneration Epilepsy Facial dysmorphism Congenital anomalies Tags new-gene-name
Green List (high evidence)	H3F3B Intellectual disability v9.288	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental delay Intellectual disability Neurodegeneration Epilepsy Facial dysmorphism Congenital anomalies Tags new-gene-name
Green List (high evidence)	HAAO Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple congenital malformations VACTERL-like phenotype Tags
Green List (high evidence)	HACD1 Congenital myopathy v6.45	9 reviews 6 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Expert Review Phenotypes Myopathy, congenital, nonprogressive, OMIM:619967 Tags
Green List (high evidence)	HACE1 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spastic paraplegia and psychomotor retardation with or without seizures 616756 Tags
Green List (high evidence)	HADH Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH NHS GMS Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency 231530 Hyperinsulinemic hypoglycemia, familial, 4 609975 Tags
Green List (high evidence)	HADHA Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Tags
Green List (high evidence)	HADHA Rhabdomyolysis and metabolic muscle disorders v5.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Mitochondrial trifunctional protein deficiency, OMIM:609015 Tags
Green List (high evidence)	HADHA Likely inborn error of metabolism v8.92	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation) Trifunctional protein deficiency 609015 Tags
Green List (high evidence)	HADHB Likely inborn error of metabolism v8.92	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation) Trifunctional protein deficiency 609015 Tags
Green List (high evidence)	HADHB Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Literature UKGTN Phenotypes Mitochondrial trifunctional protein deficiency 2, OMIM:620300 Tags
Green List (high evidence)	HAMP Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hemochromatosis, type 2B 613313 Hereditary haemochromatosis Type 2 (Disorder of iron metabolism) Tags
Green List (high evidence)	HARS2 Likely inborn error of metabolism v8.92	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Green London North GLH NHS GMS Phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) ?Perrault syndrome 2 614926 Perrault syndrome 2, 614926 Tags
Green List (high evidence)	HCCS Intellectual disability v9.288	5 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Microphthalmia, syndromic 7, 309801 MICROPHTHALMIA SYNDROMIC TYPE 7 (MCOPS7) Tags
Green List (high evidence)	HCCS Likely inborn error of metabolism v8.92	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources London North GLH NHS GMS Expert Review Green Phenotypes Linear skin defects with multiple congenital anomalies 1 Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Microphthalmia, syndromic 7, 309801 Tags
Green List (high evidence)	HCFC1 Likely inborn error of metabolism v8.92	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541 Tags
Green List (high evidence)	HCFC1 Intellectual disability v9.288	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Mental retardation, X-linked 3, 309541 MENTAL RETARDATION, X-LINKED 3 MRX3 Tags
Green List (high evidence)	HCN1 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 EIEE24 Tags
Green List (high evidence)	HDAC3 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	HDAC4 Intellectual disability v9.288	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Brachydactyly-mental retardation syndrome, 600430 BRACHYDACTYLY-MENTAL RETARDATION SYNDROME (BDMR) Tags
Green List (high evidence)	HDAC8 Intellectual disability v9.288	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 Phenotypes Wilson-Turner syndrome, 309585Cornelia de Lange syndrome 5, 300882 CORNELIA DE LANGE-LIKE SYNDROME Tags
Green List (high evidence)	HECTD4 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250 Tags gene-checked
Green List (high evidence)	HECW2 Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Neurodevelopmental disorder with hypotonia, seizures, and absent language, OMIM:617268 Tags
Green List (high evidence)	HEPACAM Intellectual disability v9.288	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926 Tags
Green List (high evidence)	HERC1 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Macrocephaly, dysmorphic facies, and psychomotor retardation 617011 Tags
Green List (high evidence)	HERC2 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Mental retardation, autosomal recessive 38, OMIM:615516 Tags
Green List (high evidence)	HESX1 Intellectual disability v9.288	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Growth hormone deficiency with pituitary anomalies, OMIM:182230 Pituitary hormone deficiency, combined, 5, OMIM:182230 Septooptic dysplasia, OMIM:182230 Tags
Green List (high evidence)	HEXA Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes GM2-gangliosidosis, several forms, 272800 Tay-Sachs disease, 272800 Tags
Green List (high evidence)	HEXA Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Tay-Sachs disease, 272800 GM2-gangliosidosis, several forms, 272800 GM2-GANGLIOSIDOSIS TYPE 1 (GM2G1) Tags
Green List (high evidence)	HEXB Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 Tags
Green List (high evidence)	HEXB Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 Tags
Green List (high evidence)	HFE Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hemochromatosis, OMIM:235200 Tags
Green List (high evidence)	HFE2 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hemochromatosis, type 2A, 602390 Hereditary haemochromatosis Type 2 (Disorder of iron metabolism) Tags new-gene-name
Green List (high evidence)	HGD Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Alkaptonuria Tags
Green List (high evidence)	HGSNAT Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 3C (MPS3C) Tags
Green List (high evidence)	HGSNAT Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mucopolysaccharidosis Type III Mucopolysaccharidosis, Type III Retinitis Pigmentosa 73 Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 Mucopolysaccharidosis Type IIIC MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses) Tags
Green List (high evidence)	HIBCH Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 HIBCH deficiency Methacrylic aciduria (Organic acidurias) Tags
Green List (high evidence)	HIBCH Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HIBCH DEFICIENCY Tags
Green List (high evidence)	HID1 Intellectual disability v9.288	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic infantile encephalopathy Hypopituitarism Developmental and epileptic encephalopathy 105 with hypopituitarism, OMIM:619983 Tags
Green List (high evidence)	HIST1H1E Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Other Phenotypes Rahman syndrome, 617537 mild to severe intellectual disability Tags new-gene-name
Green List (high evidence)	HIST1H4C Intellectual disability v9.288	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Gene2Phenotype Phenotypes Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:619758 Tags new-gene-name
Green List (high evidence)	HIST1H4E Intellectual disability v9.288	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes Tessadori-van Haaften neurodevelopmental syndrome 3, OMIM:619950 Tessadori-Van Haaften neurodevelopmental syndrome 3 MONDO:0030993 Tags new-gene-name
Green List (high evidence)	HIVEP2 Intellectual disability v9.288	5 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Phenotypes Mental retardation, autosomal dominant 43, 616977 MRD43 Intellectual disability Tags
Green List (high evidence)	HK1 Intellectual disability v9.288	7 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547 Tags missense
Green List (high evidence)	HLCS Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Holocarboxylase synthetase deficiency Holocarboxylase synthetase deficiency, 253270 lactic acidosis with seizures and eczema, immune deficiency Holocarboxylase synthetase deficiency (Disorders of biotin metabolism) Tags
Green List (high evidence)	HLCS Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Holocarboxylase synthetase deficiency, 253270 HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Tags
Green List (high evidence)	HMBS Likely inborn error of metabolism v8.92	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes Porphyria, acute intermittent OMIM:176000 acute intermittent porphyria MONDO:0008294 Leukoencephalopathy, porphyria-related OMIM:620711 leukoencephalopathy, porphyria-related, MONDO:0958226 Encephalopathy, porphyria-related, OMIM:620704 encephalopathy, porphyria-related, MONDO:0958224 Tags Q2_25_ MOI
Green List (high evidence)	HMGB1 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Developmental delay and microcephaly Tags gene-checked
Green List (high evidence)	HMGCL Likely inborn error of metabolism v8.92	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Other Phenotypes 3-Hydroxy-3-methyl glutaric aciduria (Organic acidurias) 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency HMG-CoA lyase deficiency, 246450 HMGCLD Tags
Green List (high evidence)	HMGCL Intellectual disability v9.288	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HMG-CoA lyase deficiency, 246450 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency HMGCLD Intellectual disability Tags
Green List (high evidence)	HMGCR Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Expert Review Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 28, OMIM:620375 Tags
Green List (high evidence)	HMGCS2 Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes HMG-CoA synthase-2 deficiency Tags
Green List (high evidence)	HNMT Intellectual disability v9.288	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mental retardation, autosomal recessive 51, OMIM:616739 Tags
Green List (high evidence)	HNRNPA2B1 Congenital muscular dystrophy v6.8	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Research Expert list Other Phenotypes Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422 Tags
Green List (high evidence)	HNRNPA2B1 Congenital myopathy v6.45	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Expert list Phenotypes oculopharyngodistal myopathy muscular dystrophy congenital myopathy Tags
Green List (high evidence)	HNRNPDL Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	5 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Yorkshire and North East GLH NHS GMS South West GLH Literature Phenotypes Muscular dystrophy, limb-girdle, type 1G 609115 Limb girdle muscular dystrophy Tags
Green List (high evidence)	HNRNPH1 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes HNRNPH1‐related syndromic intellectual disability Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083 Tags
Green List (high evidence)	HNRNPH2 Intellectual disability v9.288	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Phenotypes Mental retardation, X-linked, syndromic, Bain type, 300986 MRXSB Tags
Green List (high evidence)	HNRNPK Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Other Phenotypes Au-Kline syndrome, 616580 intellectual disability Tags
Green List (high evidence)	HNRNPR Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Seizures Postnatal microcephaly Short digit Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073 Tags
Green List (high evidence)	HNRNPU Intellectual disability v9.288	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Developmental and epileptic encephalopathy 54, OMIM:617391 Tags
Green List (high evidence)	HOGA1 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperoxaluria Type III (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Hyperoxaluria, primary, type III 613616 Tags
Green List (high evidence)	HOXA1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bosley-Salih-Alorainy syndrome, 601536Athabaskan brainstem dysgenesis syndrome, 601536 BOSLEY-SALIH-ALORAINY SYNDROME (BSAS) Tags
Green List (high evidence)	HPD Likely inborn error of metabolism v8.92	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hawkinsinuria 140350 Tyrosinemia, type III 276710 Tags
Green List (high evidence)	HPD Intellectual disability v9.288	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Tyrosinemia, type III, 276710Hawkinsinuria, 140350 HAWKINSINURIA (HAWK) Tags
Green List (high evidence)	HPDL Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613 Tags gene-checked
Green List (high evidence)	HPRT1 Intellectual disability v9.288	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 Lesch-Nyhan syndrome, OMIM:300322 Tags
Green List (high evidence)	HPRT1 Likely inborn error of metabolism v8.92	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperuricemia, HRPT-related, OMIM:300323 Lesch-Nyhan syndrome, OMIM:300322 Tags
Green List (high evidence)	HPS1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hermansky-Pudlak syndrome 1 203300 Tags
Green List (high evidence)	HRAS Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes {Bladder cancer, somatic}, 109800Costello syndrome, 218040{Thyroid carcinoma, follicular, somatic}, 188470Congenital myopathy with excess of muscle spindles, 218040{Nevus sebaceous, somatic}, 162900Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 COSTELLO SYNDROME Tags
Green List (high evidence)	HS2ST1 Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability dysmorphic features congenital anomalies Tags
Green List (high evidence)	HSD17B10 Likely inborn error of metabolism v8.92	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes HSD10 mitochondrial disease, OMIM:300438 Tags
Green List (high evidence)	HSD17B10 Intellectual disability v9.288	5 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes HSD10 mitochondrial disease, OMIM:300438 Tags
Green List (high evidence)	HSD17B4 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes D-bifunctional protein deficiency, 261515 Peroxisomal D-bifunctional protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) Tags
Green List (high evidence)	HSD17B4 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PERRAULT SYNDROME Tags
Green List (high evidence)	HSD3B7 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes 3- ?-hydroxysterol ?5-oxidoreductase/isomerase deficiency (Disorders of bile acid biosynthesis) Bile acid synthesis defect, congenital, 1, 607765 Tags
Green List (high evidence)	HSPA9 Likely inborn error of metabolism v8.92	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Even-plus syndrome, OMIM:616854 Tags
Green List (high evidence)	HSPB1 Distal myopathies v6.16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neuropathy, distal hereditary motor type IIB, 608634 Tags
Green List (high evidence)	HSPB8 Distal myopathies v6.16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Neuropathy, distal hereditary motor type IIA, 158590 distal myopathy Tags
Green List (high evidence)	HSPD1 Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 Tags
Green List (high evidence)	HSPD1 Likely inborn error of metabolism v8.92	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR) Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD) Tags
Green List (high evidence)	HTRA2 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 3-methylglutaconic aciduria, type VIII 617248 Tags
Green List (high evidence)	HTRA2 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3-methylglutaconic aciduria, type VIII 617248 Tags
Green List (high evidence)	HUWE1 Intellectual disability v9.288	5 reviews 4 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590 Tags
Green List (high evidence)	HYAL1 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes ?Mucopolysaccharidosis type IX, 601492 MPS IX, Natowicz (MPS IV, Morquio disease) Tags
Green List (high evidence)	IARS Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Phenotypes Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 Tags new-gene-name
Green List (high evidence)	IARS2 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) No OMIM phenotype Tags
Green List (high evidence)	IBA57 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330 ?Spastic paraplegia 74, autosomal recessive, OMIM:616451 Tags
Green List (high evidence)	IBA57 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330 Tags
Green List (high evidence)	IDH2 Likely inborn error of metabolism v8.92	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias) D-2-hydroxyglutaric aciduria 2, 613657 Tags
Green List (high evidence)	IDH2 Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes D-2-hydroxyglutaric aciduria 2 613657 Tags
Green List (high evidence)	IDS Likely inborn error of metabolism v8.92	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 2 MPS II, Hunter disease (Mucopolysaccharidoses) Mucopolysaccharidosis II, 309900 Mucopolysaccharidosis Type II Tags
Green List (high evidence)	IDS Intellectual disability v9.288	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 Mucopolysaccharidosis II, 309900 MUCOPOLYSACCHARIDOSIS TYPE 2 (MPS2) Tags
Green List (high evidence)	IDUA Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hurler syndrome Mucopolysaccharidosis type 1H/S MPS I, Hurler, Scheie disease (Mucopolysaccharidoses) Scheie syndrome Hurler-Scheie syndrome Mucopolysaccharidosis type 1S Mucopolysaccharidosis type 1H Mucopolysaccharidosis Ih/s, 607015 Mucopolysaccharidosis, Type I Mucopolysaccharidosis Is, 607016 Mucopolysaccharidosis Ih, 607014 Tags
Green List (high evidence)	IDUA Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mucopolysaccharidosis Ih, 607014Mucopolysaccharidosis Is, 607016Mucopolysaccharidosis Ih/s, 607015 MUCOPOLYSACCHARIDOSIS TYPE 1S (MPS1S) Tags
Green List (high evidence)	IER3IP1 Intellectual disability v9.288	5 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231 MEDS Intellectual disability Tags
Green List (high evidence)	IER3IP1 Likely inborn error of metabolism v8.92	6 reviews 4 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Other Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231 MEDS Tags
Green List (high evidence)	IFIH1 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Aicardi-Goutieres syndrome 7, OMIM:615846 Tags
Green List (high evidence)	IFT172 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MAINZER-SALDINO SYNDROME Tags
Green List (high evidence)	IGF1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Insulin-like growth factor I deficiency, OMIM:608747 Tags
Green List (high evidence)	IGF1R Intellectual disability v9.288	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Insulin-like growth factor I, resistance to, OMIM:270450 Tags
Green List (high evidence)	IGHMBP2 Paediatric motor neuronopathies v3.12	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Neuronopathy, distal hereditary motor, type VI, OMIM:604320 Tags
Green List (high evidence)	IKBKG Intellectual disability v9.288	5 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Incontinentia pigmenti, OMIM:308300 Tags
Green List (high evidence)	IL1RAPL1 Intellectual disability v9.288	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Mental Retardation, X-linked Mental retardation, X-linked 21/34, 300143 MENTAL RETARDATION X-LINKED TYPE 21 (MRX21) Tags
Green List (high evidence)	IMPDH2 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dystonia Tags
Green List (high evidence)	INPP5E Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 Joubert syndrome 1, 213300 MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS (MORMS) Tags
Green List (high evidence)	INPP5K Congenital muscular dystrophy v6.8	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Literature Phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404 Tags
Green List (high evidence)	INPP5K Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment Tags
Green List (high evidence)	INTS1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571 Tags
Green List (high evidence)	INTS11 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428 Tags
Green List (high evidence)	IQSEC2 Intellectual disability v9.288	5 reviews 4 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green Expert Review Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Intellectual developmental disorder, X-linked 1, OMIM:309530 Tags
Green List (high evidence)	IREB2 Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, OMIM:618451 Tags
Green List (high evidence)	IRF2BPL Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759 Tags
Green List (high evidence)	IRX5 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY Tags
Green List (high evidence)	5p15 terminal (Cri du chat syndrome) region Loss ISCA-37390-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes 123450 PMID 15635506: characteristic cry, speech delay, facial dysmorphology, and level of mental retardation. PMID 11238681: interstitial deletions and one with a small terminal deletion confirmed the existence of two critical regions, one for dysmorphism and mental retardation in p15.2 and the other for the cat cry in p15.3. Results from one patient permitted the cat cry region to be distally narrowed from D5S13 to D5S731, study supports hypothesis of a separate region in p15.3 for the speech delay Tags
Green List (high evidence)	7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Gain ISCA-37392-Gain Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes intellectual disability 609757 behavior problems abnormal gait and station cardiovascular disease phonologic disorders distinctive facial features neurologic abnormalities speech sound disorders Tags
Green List (high evidence)	7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss ISCA-37392-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes 194050 Williams syndrome Tags
Green List (high evidence)	22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain ISCA-37393-Gain Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome 115470 Tags
Green List (high evidence)	2q37.3 terminal region (includes HDAC4) Loss ISCA-37394-Loss Region Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination 600430 Tags
Green List (high evidence)	15q24 recurrent region (A-D) (includes SIN3A) Loss ISCA-37396-Loss Region Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Chromosome 15q24 deletion syndrome, 613406 PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology developmental delay, severe speech problems PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia Tags
Green List (high evidence)	22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Gain ISCA-37397-Gain Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes seizures failure to thrive ADHD heart defects speech disturbances hypernasal speech hearing impariment abnormal behaviour developmental delay hypotonia micro- or macrocephaly Tags
Green List (high evidence)	22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Loss ISCA-37397-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes diaphragmatic hernia mild skeletal abnormalities uterine didelphys 611867 DiGeorge syndrome (DGS) clinodactyly velocardiofacial syndrome ADHD Goldenhar syndrome prematurity developmental delay micropephaly cardiovascular defects Seizures global developmental delay language delay prenatal and postnatal growth delay Hyptonia Tags
Green List (high evidence)	16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Gain ISCA-37400-Gain Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes 614671 intellectual disability delayed development autism specific deficits in speech or language Tags
Green List (high evidence)	16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Loss ISCA-37400-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes seizures intellectual disability Chiari malformations cerebellar ectopia 611913 mental retardation Macrocephaly developmental delay autism spectrum disorder (ASD) vertebral anomalies Tags
Green List (high evidence)	11p13 (WAGR syndrome) region Loss ISCA-37401-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome 194072 Tags
Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Gain ISCA-37404-Gain Region Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes chromosome 15q11-q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems 608636 delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected Tags Q3_25_demote_red
Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss ISCA-37404-Loss Region Paediatric motor neuronopathies v3.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes microcephaly 105833 Developmental delay, muscle weakness Mental retardation Angelman syndrome 176270 Prader-Willi syndrome Tags Q3_25_demote_red
Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss ISCA-37404-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes microcephaly Developmental delay, muscle weakness Mental retardation Angelman syndrome 176270 Prader-Willi syndrome 105830 Tags Q3_25_demote_red
Green List (high evidence)	2q13 recurrent region (includes NPHP1) Loss ISCA-37405-Loss Region Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities 266900 609583 Tags
Green List (high evidence)	16p13.3 region (includes CREBBP) Loss ISCA-37406-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes 610543 Tags
Green List (high evidence)	2p15p16.1 region (includes BCL11A) Loss ISCA-37408-Loss Region Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies Tags
Green List (high evidence)	2p15p16.1 region (includes BCL11A) Loss ISCA-37408-Loss Region Paediatric motor neuronopathies v3.12	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies Tags
Green List (high evidence)	2p15p16.1 region (includes BCL11A) Loss ISCA-37408-Loss Region Congenital myopathy v6.45	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies Tags
Green List (high evidence)	15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss ISCA-37411-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes PMID: 19289393 incomplete penetrance for developmental delay, mental retardation, or borderline IQ in most and autistic spectrum disorder (6/14), speech delay, aggressiveness, attention deficit hyperactivity disorder, and other behavioural problems 612001 PMID: 18278044 mental retardation, epilepsy and variable facial and digital dysmorphisms PMID: 19136953 idiopathic generalized epilepsy without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia Tags
Green List (high evidence)	16p13.11 recurrent region (includes MYH11) Gain ISCA-37415-Gain Region Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Intellectual disability Developmental delay Autism Aortopathy Tags
Green List (high evidence)	16p13.11 recurrent region (includes MYH11) Loss ISCA-37415-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes PMID: 18550696 Phenotypic variability, common features were identified: mental retardation, microcephaly and epilepsy in three patients, two of these had also short stature, and two other deletion carriers ascertained prenatally presented with cleft lip and midline defects Tags
Green List (high evidence)	17p11.2 recurrent (SMS/PLS) region (includes RAI1) Gain ISCA-37418-Gain Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes infantile hypotonia, failure to thrive, mental retardation, autistic features, sleep apnea, and structural cardiovascular anomalies 610883 characterized by hypotonia, poor feeding, failure to thrive, developmental delay, mild-moderate intellectual deficit, and neuropsychiatric disorders. Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated Tags
Green List (high evidence)	17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss ISCA-37418-Loss Region Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Smith-Magenis syndrome, OMIM:182290 Smith-Magenis syndrome, MONDO:0008434 Tags
Green List (high evidence)	17q21.3 recurrent region (includes KANSL1) Loss ISCA-37420-Loss Region Congenital myopathy v6.45	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Koolen-De Vries syndrome, OMIM:610443 Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural features Tags
Green List (high evidence)	17q21.3 recurrent region (includes KANSL1) Loss ISCA-37420-Loss Region Paediatric motor neuronopathies v3.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Koolen-De Vries syndrome, OMIM:610443 Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature Tags
Green List (high evidence)	17q21.3 recurrent region (includes KANSL1) Loss ISCA-37420-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Koolen-De Vries syndrome, OMIM:610443 Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature Tags
Green List (high evidence)	1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Gain ISCA-37421-Gain Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Chromosome 1q21.1 duplication syndrome ncomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis 612475 1q21.1 microduplication syndrome Tags
Green List (high evidence)	1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Loss ISCA-37421-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes dysmorphic features 612474 Moderate mental retardation, microcephaly, cardiac abnormalities, and cataracts mild to moderate developmental delay Tags
Green List (high evidence)	8p23.1 recurrent region (includes GATA4) Gain ISCA-37423-Gain Region Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele. mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly) congenital heart disease 8p23.1 duplication syndrome Tags
Green List (high evidence)	8p23.1 recurrent region (includes GATA4) Loss ISCA-37423-Loss Region Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes prenatal and postnatal growth retardation, low birth weight, mild to moderate intellectual deficit, psychomotor retardation, poor speech, seizures, behavioral problems such as hyperactivity and impulsiveness. Frequent craniofacial abnormalities include microcephaly, high and narrow forehead, broad nasal bridge, epicanthic folds, high arched palate, short neck and low set unusually shaped ears. Furthermore congenital heart defects (atrioventricular, septal defects, pulmonary stenosis), congenital diaphragmatic hernia and in boys cryptorchidism and hypospadias have been frequently reported. congenital heart defects, microcephaly, psychomotor delay and behavioural problems hyperactivity, craniofacial abnormalities 8p23.1 microdeletion syndrome moderate intellectual disability Tags
Green List (high evidence)	10q22.3q23.2 recurrent region (LCR-3/4-flanked) (includes BMPR1A) Loss ISCA-37424-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes PMID 20345475 macrocephaly, hypertelorism, and arachnodactyly, and neurodevelopmental delay that includes failure to thrive, hypotonia, and feeding difficulties in the neonatal period, and receptive and expressive language delay with global neurodevelopmental delay after the neonatal period. PMID: 21248748 developmental delay, mainly affecting speech. In addition, macrocephaly, mild facial dysmorphisms, cerebellar anomalies, cardiac defects and congenital breast aplasia PMID: 25217958 none specified PMID: 24550761 age-appropriate language development evaluated by a standardized test at an age of 2 years and 3 months. The boy was born with a cleft palate - a feature not present in any of the patients described before, phenotype of patients with an LCR3/4-flanked 10q22.3q23.2 deletion can be rather variable Tags
Green List (high evidence)	5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain ISCA-37425-Gain Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Microcephaly, short stature and developmental delay short stature, microcephaly, learning disability or mild to moderate ID, and distinctive facial features comprising periorbital fullness, short palpebral fissures, a long nose with broad or long nasal tip, a smooth philtrum and a thin upper lip vermilion. Behavioral problems, ocular and minor hand anomalies may be associated. Tags
Green List (high evidence)	5q35 recurrent (Sotos syndrome) region (includes NSD1) Loss ISCA-37425-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes macrocephaly, overgrowth and advanced bone age colpocephaly Sotos syndrome macrocephaly 117550 rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. High-arched palate and prominent jaw Tags
Green List (high evidence)	4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss ISCA-37429-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Wolf-Hirschhorn syndrome, OMIM:194190 Tags
Green List (high evidence)	4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss ISCA-37429-Loss Region Congenital myopathy v6.45	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Wolf-Hirschhorn syndrome, OMIM:194190 Tags
Green List (high evidence)	4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss ISCA-37429-Loss Region Paediatric motor neuronopathies v3.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Wolf-Hirschhorn syndrome, OMIM:194190 Tags
Green List (high evidence)	17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Gain ISCA-37430-Gain Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes 613215 Chromosome 17p13.3 duplication syndrome variable psychomotor delay and dysmorphic features 17q11.2 microduplication syndrome Tags
Green List (high evidence)	17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss ISCA-37430-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tended to have macrosomia, facial dysmorphism, and mild developmental delay growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment Chromosome 17p13.3 duplication syndrome prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw Characteristic facies, pre- and post-natal growth retardation 247200 classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities Miller-Dieker lissencephaly syndrome Tags
Green List (high evidence)	17q11.2 recurrent region (includes NF1) Gain ISCA-37431-Gain Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes early onset of baldness (15 years old), dental enamel hypoplasia and minor facial dysmorphism Chromosome 17q11.2 deletion syndrome, 1.4Mb DD/ID, facial dysmorphisms, and seizures Tags
Green List (high evidence)	17q11.2 recurrent region (includes NF1) Loss ISCA-37431-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes dysmorphic features, cardiac anomalies and mental retardation 613675 variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME NF1 MICRODELETION SYNDROME Chromosome 17q11.2 deletion syndrome, 1.4Mb Tags
Green List (high evidence)	17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain ISCA-37432-Gain Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia Speech and language delay Seizures (not all) Chromosome 17q12 duplication syndrome 614526 Behavioural difficulties Tags
Green List (high evidence)	17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss ISCA-37432-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes RCAD syndrome utero-vaginal atresia Schizophrenia 614527 delayed development, intellectual disability Renal cysts and diabetes syndrome Autism Spectrum Disorder Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females Chromosome 17q12 deletion syndrome global developmental delay Tags
Green List (high evidence)	22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Gain ISCA-37433-Gain Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes 608363 Chromosome 22q11.2 microduplication syndrome dysmorphic facial features, cognitive deficits, velopharyngeal insufficiency, congenital heart defects and immunologic derangement delayed psychomotor development, growth retardation, and/or hypotonia Tags Q3_25_demote_red
Green List (high evidence)	22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss ISCA-37433-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes 188400 immune deficiency renal anomalies 22q11.2 deletion syndrome 192430 facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay cleft palate, polydactyly polyhydramnios Velocardiofacial syndrome diaphragmatic hernia DiGeorge syndrome congenital heart disease Learning difficulties Tags Q3_25_demote_red
Green List (high evidence)	1p36 terminal region (includes GABRD) Loss ISCA-37434-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes posteriorly rotated, low-set, abnormal ears brachycephaly epicanthus heart defects pointed chin deep-set eyes microcephaly hypotonia seizures poor/absent speech central nervous system anomalies large anterior fontanels microbrachycephaly mental retardation growth impairment large, late-closing anterior fontanel flat nose nasal bridge developmental delay hearing impairment distinct dysmorphic features 1p36 deletion syndrome 607872 Tags
Green List (high evidence)	Xq28 recurrent region (includes GDI1) Gain ISCA-37439-Gain Region Intellectual disability v9.288	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green ClinGen Phenotypes 28300815 Chromosome Xq duplication syndrome Tags
Green List (high evidence)	2p21 region (includes PREPL and SLC3A1) Loss ISCA-37440-Loss Region Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes mild/moderate mental retardation facial dysmorphism Hypotonia-cystinuria syndrome (HCS) 2p21 deletion syndrome rapid weight gain in late childhood failure to thrive growth hormone deficiency 606407 lactic acidemia respiratory chain complex IV deficiency hyperphagia minor facial dysmorphism severe somatic and developmental delay nephrolithiasis cystinuria neonatal seizures hypotonia Tags
Green List (high evidence)	2p21 region (includes PREPL and SLC3A1) Loss ISCA-37440-Loss Region Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes hyperphagia lactic acidemia mild/moderate mental retardation Hypotonia-cystinuria syndrome (HCS) 606407 failure to thrive nephrolithiasis rapid weight gain in late childhood minor facial dysmorphism growth hormone deficiency facial dysmorphism respiratory chain complex IV deficiency cystinuria neonatal seizures 2p21 deletion syndrome hypotonia severe somatic and developmental delay Tags
Green List (high evidence)	11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss ISCA-37441-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Potocki-Shaffer syndrome multiple exostoses biparietal foramina intellectual disability strabismus minor craniofacial anomalies myopia ophthalmologic anomalies 601224 mental retardation enlarged anterior fontanel genital abnormalities in males parietal foramina developmental delay Tags
Green List (high evidence)	3q29 recurrent region (includes DLG1) Loss ISCA-37443-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes . mild to moderate mental retardation, with only slightly dysmorphic facial features that were similar in most patients: long and narrow face, short philtrum, and high nasal bridge. Autism, gait ataxia, chest wall deformity, and long and tapering fingers were noted in at least 2 of the 6 patients. delayed psychomotor development with mild to moderate mental retardation and/or learning disabilities with speech delay. All had low birth weight, microcephaly, high nasal bridge, and short philtrum, and 3 had clinodactyly of the toes. primary pulmonary hypertension, patent ductus arteriosus (PDA), subvalvular aortic stenosis, and gastroesophageal reflux, and required neonatal intensive care for 57 days after birth due to complications of meconium aspiration. He had mild dysmorphic features, including posteriorly rotated ears, shallow orbits, frontal bossing, prominent nose, long thin lip, and broad face. He also had bilateral sandal gap toes, single palmar creases, and bilateral inguinal hernia. However, he was developmentally normal at age 6 months. delayed psychomotor development with delayed waking and poor motor skills, autism with speech delay, mental retardation, and psychiatric disturbances, including aggression, anxiety, hyperactivity, and bipolar disorder with psychosis in 1. Both had dysmorphic features, including high nasal bridge, asymmetric face, and crowded/dysplastic teeth 1 had micrognathia and epicanthal folds. Both had tapered fingers. 609425 Chromosome 3q29 microdeletion syndrome Tags
Green List (high evidence)	22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Gain ISCA-37446-Gain Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes 608363 intellectual disability and congenital abnormalities,Autism chromosome 22q11.2 microduplication heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal Tags
Green List (high evidence)	22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss ISCA-37446-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells micrognathia clefting Hearing deficits Velocardiofacial syndrome cardiac malformations DiGeorge syndrome Tags
Green List (high evidence)	DLK1-MEG3 Intergenic Region Loss ISCA-37447-Loss Region Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Kagami-Ogata syndrome, OMIM:608149 Temple syndrome, OMIM:616222 Tags
Green List (high evidence)	Xp11.23 region (includes MAOA and MAOB) Loss ISCA-37468-Loss Region Intellectual disability v9.288	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green ClinGen Phenotypes episodes of sudden loss of muscle tone severe intellectual disability exiting behavior short stature eleveated serotonin levels autistic features lip-smacking hypotonia stereotypical hand movements Tags
Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain ISCA-37478-Gain Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Other Expert Review Green Phenotypes hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636 chromosome 15q11-q13 duplication syndrome autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems Tags
Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss ISCA-37478-Loss Region Paediatric motor neuronopathies v3.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes microcephaly Developmental delay, muscle weakness Mental retardation Angelman syndrome 176270 Prader-Willi syndrome 105830 Tags
Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss ISCA-37478-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes microcephaly Developmental delay, muscle weakness Mental retardation Angelman syndrome 176270 Prader-Willi syndrome 105830 Tags
Green List (high evidence)	16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) Loss ISCA-37486-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes developmental delay 613444 obesity Tags
Green List (high evidence)	1q43q44 terminal region (includes AKT3) Loss ISCA-37493-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes microcephaly seizures agenesis of the corpus callosum intellectual disability hand and foot anomalies 612337 non-specific craniofacial anomalies hypoplasia psychomotor retardation hypogenesis of the corpus callosum Tags
Green List (high evidence)	Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Gain ISCA-37494-Gain Region Intellectual disability v9.288	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Phenotypes Chromosome Xq28 duplication syndrome, 300815 X linked intellectual disability (XLID) PMID: 25927380 cognitive impairment, behavioral problems, distinctive facial features duplication affects males with a recognizable syndrome, females exhibiting milder phenotypes PMID:21984752 behavioural abnormalities (hyperactivity and aggressiveness), characteristic facial features (high forehead, upper eyelid fullness, broad nasal bridge and thick lower lip) PMID:24357492 Cognitive impairment in male patients Tags
Green List (high evidence)	Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Loss ISCA-37494-Loss Region Intellectual disability v9.288	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Phenotypes PMID: 25927380 cognitive impairment, behavioral problems, distinctive facial features deletion results in skewed chromosome X inactivation and no clinical phenotype in females PMID: 21984752 in utero male lethality with deletions Tags
Green List (high evidence)	2q11.2 recurrent region (includes ARID5A, TMEM127) Loss ISCA-37495-Loss Region Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Tags
Green List (high evidence)	15q25.2 recurrent region (LCR B-C, proximal) Loss ISCA-37500-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes mild to moderate cognitive deficit Diamond-Blackfan anemia intellectual disability 614294 anemia congenital diaphragmatic hernia cryptorchidism in males severe speech and psychomotor delay mental retardation postnatal short stature behavioral problem mild dysmorphic feature developmental delay Tags
Green List (high evidence)	17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss ISCA-37501-Loss Region Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Chromosome 17q23.1-q23.2 deletion syndrome, 613355 PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss Tags
Green List (high evidence)	Xp11.22p11.23 recurrent region (includes SHROOM4) Gain ISCA-46290-Gain Region Intellectual disability v9.288	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green ClinGen Phenotypes Idiopathic mental retardation, speech delay, and a peculiar electroencephalographic (EEG) pattern in childhood. Autism and epilepsy, severe intellectual disability and dysmorphic facial features. Moderate to severe intellectual disability, early onset of puberty, language impairment, and age related epileptic syndromes such as West syndrome and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep 300801 Tags
Green List (high evidence)	22q11.2 recurrent region (distal type III, D-G/H) (includes SMARCB1) Loss ISCA-46292-Loss Region Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Tags
Green List (high evidence)	15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss ISCA-46295-Loss Region Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes seizures 20236110 mental retardation 22775350 dysmorphic features developmental delay severe epileptic encephalopathy Tags
Green List (high evidence)	16p12.2 recurrent region (distal)(includes OTOA) Loss ISCA-46297-Loss Region Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Tags
Green List (high evidence)	Xp11.22 region (includes HUWE1) Gain ISCA-46299-Gain Region Intellectual disability v9.288	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Phenotypes X linked intellectual disability (XLID) PMID: 26692240 Mild‐profound intellectual disability, speech delay, failure to thrive, hand abnormalities, motor delay, abnormal palate PMID:22840365 Mild intellectual disability PMID:26692240 Region 2 (53,160,114–53,713,154 bp Within Chromosome Xp11.22) Tags
Green List (high evidence)	Xq28 region (includes MECP2) Gain ISCA-46304-Gain Region Intellectual disability v9.288	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources ClinGen Expert Review Green Tags
Green List (high evidence)	3q24 Region (includes ZIC1) Loss ISCA-46553-Loss Region Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Tags
Green List (high evidence)	7p22.1 region (includes ACTB) Loss ISCA-46742-Loss Region Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Tags
Green List (high evidence)	Xq25 region (includes STAG2) Gain ISCA-46743-Gain Region Intellectual disability v9.288	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources ClinGen Expert Review Green Tags
Green List (high evidence)	Xq25 region (includes STAG2) Loss ISCA-46743-Loss Region Intellectual disability v9.288	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources ClinGen Expert Review Green Tags
Green List (high evidence)	ISCA1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Expert list Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613 Tags
Green List (high evidence)	ISCA2 Likely inborn error of metabolism v8.92	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 4 616370 Tags
Green List (high evidence)	ISCU Likely inborn error of metabolism v8.92	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Myopathy with lactic acidosis, hereditary, 255125 Disorders of iron homeostasis Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Rhabdomyolysis and metabolic muscle disorders Tags non-coding-known-pathogenic
Green List (high evidence)	ISCU Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Myopathy with lactic acidosis, hereditary, OMIM:255125 Tags non-coding-known-pathogenic
Green List (high evidence)	ISPD Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 congenital muscular dystrophy limb girdle muscular dystrophy Tags new-gene-name
Green List (high evidence)	ISPD Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 Tags new-gene-name
Green List (high evidence)	ISPD Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 WALKER WARBURG SYNDROME Tags new-gene-name
Green List (high evidence)	ISPD Congenital muscular dystrophy v6.8	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, OMIM:614643 Tags new-gene-name
Green List (high evidence)	ITGA7 Congenital muscular dystrophy v6.8	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Muscular dystrophy, congenital, due to ITGA7 deficiency, OMIM:613204 Tags
Green List (high evidence)	ITPA Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Epileptic encephalopathy, early infantile, 35, 616647 Tags
Green List (high evidence)	ITPA Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Inosine triphosphatase deficiency (Disorders of purine metabolism) Epileptic encephalopathy, early infantile, 35, 616647 [Inosine triphosphatase deficiency], 613850 Tags
Green List (high evidence)	ITPR1 Intellectual disability v9.288	9 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Gillespie syndrome, OMIM:206700 Spinocerebellar ataxia 15, OMIM:606658 Spinocerebellar ataxia 29, congenital nonprogressive, OMIM:117360 Tags
Green List (high evidence)	ITSN1 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	IVD Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections. Isovaleric acidemia Isovaleric aciduria (Organic acidurias) Tags
Green List (high evidence)	IVD Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ISOVALERIC ACIDEMIA Tags
Green List (high evidence)	JAG2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 27, OMIM:619566 Tags
Green List (high evidence)	JAG2 Congenital muscular dystrophy v6.8	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 27, OMIM:619566 Tags
Green List (high evidence)	JAM3 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS Tags
Green List (high evidence)	JARID2 Intellectual disability v9.288	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability Neurodevelopmental syndrome Developmental delay with variable intellectual disability and dysmorphic facies, OMIM:620098 Tags
Green List (high evidence)	KANSL1 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Koolen-De Vries syndrome, 610443 Intellectual Disability Syndrome CHROMOSOME 17Q21.31 MICRODELETION SYNDROME Tags
Green List (high evidence)	KARS Likely inborn error of metabolism v8.92	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Deafness, autosomal recessive 89, 613916 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Charcot-Marie-Tooth disease, recessive intermediate, B (Lysyl-tRNA synthetase mutations) (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 Tags new-gene-name
Green List (high evidence)	KARS Intellectual disability v9.288	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Global developmental delay Intellectual disability Seizures ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 Deafness, autosomal recessive 89, 613916 Tags new-gene-name
Green List (high evidence)	KAT5 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Severe global developmental delay Intellectual disability Seizures Microcephaly Behavioral abnormality Sleep disturbance Morphological abnormality of the central nervous system Short stature Oral cleft Abnormality of the face Tags
Green List (high evidence)	KAT6A Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 Tags
Green List (high evidence)	KAT6B Intellectual disability v9.288	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes SBBYSS syndrome, 603736Genitopatellar syndrome, 606170 BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE Tags
Green List (high evidence)	KAT8 Intellectual disability v9.288	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes Li-Ghorgani-Weisz-Hubshman syndrome, OMIM:618974 Global developmental delay Intellectual disability Seizures Abnormality of vision Feeding difficulties Abnormality of the cardiovascular system Autism Tags missense
Green List (high evidence)	KBTBD13 Congenital myopathy v6.45	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Nemaline myopathy 6, autosomal dominant, OMIM:609273 Tags missense
Green List (high evidence)	KCNA2 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY. Tags
Green List (high evidence)	KCNA3 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert Review Phenotypes Neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	KCNB1 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 Tags
Green List (high evidence)	KCNB2 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	KCNC1 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes EPILEPSY, PROGRESSIVE MYOCLONIC 7 Tags
Green List (high evidence)	KCND2 Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes global developmental delay, HP:0001263 Tags gene-checked
Green List (high evidence)	KCNH1 Intellectual disability v9.288	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Temple-Baraitser syndrome, OMIM:611816 Zimmermann-Laband syndrome 1, OMIM:135500 Intellectual disability Encephalopathy without features of TBS/ZLS Tags
Green List (high evidence)	KCNH5 Intellectual disability v9.288	6 reviews 3 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Phenotypes Developmental and epileptic encephalopathy 112, OMIM:620537 Tags
Green List (high evidence)	KCNJ10 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, andElectrolyte Imbalance Syndrome SESAME syndrome, 612780Enlarged vestibular aqueduct, digenic, 600791 SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE (SESAME) Tags
Green List (high evidence)	KCNJ11 Intellectual disability v9.288	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582 FAMILIAL HYPERINSULINISM Tags
Green List (high evidence)	KCNJ6 Intellectual disability v9.288	6 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Keppen-Lubinsky syndrome 614098 Tags
Green List (high evidence)	KCNK3 Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes Developmental disorder with sleep apnea Tags
Green List (high evidence)	KCNK9 Intellectual disability v9.288	4 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Birk-Barel mental retardation dysmorphism syndrome 612292 Tags
Green List (high evidence)	KCNMA1 Intellectual disability v9.288	8 reviews 2 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebellar atrophy, developmental delay, and seizures, OMIM:617643 Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446 Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276 Liang-Wang syndrome, OMIM:618729 Liang-Wang syndrome, MONDO:0032886 {Epilepsy, idiopathic generalized, susceptibility to, 16}, OMIM:618596 Epilepsy, idiopathic generalized, susceptibility to, 16, MONDO:0032827 Tags
Green List (high evidence)	KCNN2 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability seizures movement disorder Tags
Green List (high evidence)	KCNN3 Intellectual disability v9.288	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Zimmermann-Laband syndrome 3, OMIM:618658 Tags
Green List (high evidence)	KCNQ2 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Developmental and epileptic encephalopathy 7, OMIM:613720 Tags
Green List (high evidence)	KCNQ3 Intellectual disability v9.288	8 reviews 3 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	KCNQ5 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Other Literature Phenotypes Mental retardation, autosomal dominant 46, 617601 intellectual disability Tags
Green List (high evidence)	KCNT1 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Epileptic encephalopathy, early infantile, 14, 614959Epilepsy, nocturnal frontal lobe, 5, 615005 MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY Tags
Green List (high evidence)	KCNT2 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 57, OMIM:617771 developmental and epileptic encephalopathy, 57, MONDO:0033366 Tags
Green List (high evidence)	KCTD3 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Epilepsy and global developmental delay Tags gene-checked
Green List (high evidence)	KCTD7 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 NEURONAL CEROID LIPOFUSCINOSIS Tags
Green List (high evidence)	KDM1A Intellectual disability v9.288	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cleft palate, psychomotor retardation, and distinctive facial features, 616728 Developmental delay Tags
Green List (high evidence)	KDM2B Intellectual disability v9.288	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	KDM3B Intellectual disability v9.288	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Diets-Jongmans syndrome, OMIM:618846 Diets-Jongmans syndrome, MONDO:0030012 Tags
Green List (high evidence)	KDM4B Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Global developmental delay, intellectual disability and neuroanatomical defects Tags
Green List (high evidence)	KDM5A Intellectual disability v9.288	7 reviews 2 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes autism spectrum disorder, MONDO:0005258 intellectual disability, MONDO:0001071 El Hayek-Chahrour neurodevelopmental syndrome, OMIM:620820 Tags
Green List (high evidence)	KDM5B Intellectual disability v9.288	9 reviews 5 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 65, OMIM:618109 Tags Q2_25_expert_review Q2_25_ MOI Q2_25_ NHS_review
Green List (high evidence)	KDM5C Intellectual disability v9.288	4 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Mental retardation, X-linked, syndromic, Claes-Jensen type, OMIM:300534 Tags
Green List (high evidence)	KDM6A Intellectual disability v9.288	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 Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen Phenotypes Kabuki syndrome 2, OMIM:300867 Tags
Green List (high evidence)	KDM6B Intellectual disability v9.288	6 reviews 2 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, OMIM:618505 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, MONDO:0032790 Tags
Green List (high evidence)	KIAA0586 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Joubert syndrome 23 616490 Tags
Green List (high evidence)	KIAA1109 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Literature Expert Review Green Expert Review Green Literature Phenotypes Brain atrophy, Dandy Walker and Contractures Alkuraya-Kucinskas syndrome,617822 Tags new-gene-name
Green List (high evidence)	KIDINS220 Intellectual disability v9.288	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296 Tags
Green List (high evidence)	KIF11 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY Tags
Green List (high evidence)	KIF14 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Microcephaly 20, primary, autosomal recessive, OMIM:617914 Microcephaly 20, primary, autosomal recessive, MONDO:0054761 Tags
Green List (high evidence)	KIF1A Intellectual disability v9.288	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes NESCAV syndrome, OMIM:614255 Spastic paraplegia 30, autosomal dominant, OMIM:610357 Tags
Green List (high evidence)	KIF1BP Intellectual disability v9.288	8 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Goldberg-Shprintzen megacolon syndrome, 609460 Tags new-gene-name
Green List (high evidence)	KIF21B Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Abnormality of brain morphology Microcephaly Tags gene-checked
Green List (high evidence)	KIF2A Intellectual disability v9.288	6 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Cortical dysplasia, complex, with other brain malformations 3, 615411 Tags
Green List (high evidence)	KIF4A Intellectual disability v9.288	6 reviews 3 green 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes ?Intellectual developmental disorder, X-linked 100, OMIM:300923 Tags
Green List (high evidence)	KIF5A Intellectual disability v9.288	4 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Myoclonus, intractable, neonatal, 617235 intellectual disability Tags
Green List (high evidence)	KIF5C Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 CDCBM2 Tags
Green List (high evidence)	KIF7 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hydrolethalus syndrome 2, 614120Acrocallosal syndrome, 200990Joubert syndrome 12, 200990 ACROCALLOSAL SYNDROME Tags
Green List (high evidence)	KIRREL3 Intellectual disability v9.288	12 reviews 3 green 5 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes complex neurodevelopmental disorder, MONDO:0100038 Tags disputed gene-checked Q3_25_demote_red Q3_25_expert_review
Green List (high evidence)	KLF7 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Intellectual disability Tags gene-checked
Green List (high evidence)	KLHL20 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder Tags gene-checked
Green List (high evidence)	KLHL40 Congenital myopathy v6.45	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Phenotypes Nemaline myopathy 8, autosomal recessive, OMIM:615348 Tags
Green List (high evidence)	KLHL41 Congenital myopathy v6.45	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Phenotypes Nemaline myopathy 9, OMIM:615731 Tags
Green List (high evidence)	KLHL7 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes BOS-like phenotype Tags
Green List (high evidence)	KMT2A Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Wiedemann-Steiner syndrome, OMIM:605130 Tags
Green List (high evidence)	KMT2B Intellectual disability v9.288	8 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Dystonia 28, childhood-onset, OMIM:617284 Intellectual developmental disorder, autosomal dominant 68, OMIM:619934 Tags
Green List (high evidence)	KMT2C Intellectual disability v9.288	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Phenotypes Kleefstra syndrome 2, 617768 Tags
Green List (high evidence)	KMT2D Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Eligibility statement prior genetic testing Phenotypes Kabuki syndrome 1, OMIM:147920 Tags
Green List (high evidence)	KMT2E Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes O'Donnell-Luria-Rodan syndrome, 618512 Global developmental delay Intellectual disability Autism Seizures Abnormality of skull size Tags
Green List (high evidence)	KMT5B Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Mental retardation, autosomal dominant 51, 617788 Tags
Green List (high evidence)	KNL1 Intellectual disability v9.288	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Microcephaly 4, primary, autosomal recessive, OMIM:604321 Microcephaly 4, primary, autosomal recessive, MONDO:0011437 Tags
Green List (high evidence)	KPTN Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Intellectual developmental disorder, autosomal recessive 41, OMIM:615637 macrocephaly-developmental delay syndrome, MONDO:0014289 Tags
Green List (high evidence)	KRAS Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Lung cancer, somatic, 211980Bladder cancer, somatic, 109800Pancreatic carcinoma, somatic, 260350Gastric cancer, somatic, 137215Leukemia, acute myelogenousNoonan syndrome 3, 609942Cardiofaciocutaneous syndrome 2, 615278Breast cancer, somatic, 114480SFM syndrome, somatic mosaic, 163200 CARDIOFACIOCUTANEOUS SYNDROME (CFC SYNDROME) Tags
Green List (high evidence)	KY Congenital myopathy v6.45	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UCL Phenotypes Myopathy, myofibrillar, 7, OMIM:617114 Tags
Green List (high evidence)	KYNU Likely inborn error of metabolism v8.92	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism) VACTERL-like phenotype multiple congenital malformations ?Hydroxykynureninuria, 236800 Tags
Green List (high evidence)	L1CAM Intellectual disability v9.288	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 Corpus callosum, partial agenesis of, OMIM:304100 CRASH syndrome, OMIM:303350 MASA syndrome, OMIM:303350 Hydrocephalus due to aqueductal stenosis, OMIM:307000 Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000 Hydrocephalus with Hirschsprung disease, OMIM:307000 Tags
Green List (high evidence)	L2HGDH Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes L-2-hydroxyglutaric aciduria, 236792 L-2-HYDROXYGLUTARIC ACIDURIA (L2HGA) Tags
Green List (high evidence)	L2HGDH Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes L-2-hydroxyglutaric aciduria, 236792 Tags
Green List (high evidence)	LAMA1 Intellectual disability v9.288	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Poretti-Boltshauser syndrome OMIM:615960 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419 Tags
Green List (high evidence)	LAMA2 Congenital muscular dystrophy v6.8	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, OMIM:607855 Tags
Green List (high evidence)	LAMA2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 congenital muscular dystroph Tags
Green List (high evidence)	LAMA2 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, congenital merosin-deficient, 607855Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 CONGENITAL MUSCULAR DYSTROPHY Tags
Green List (high evidence)	LAMB1 Intellectual disability v9.288	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lissencephaly 5, OMIM:615191 Tags
Green List (high evidence)	LAMC3 Intellectual disability v9.288	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Cortical malformations, occipital, OMIM:614115 occipital pachygyria and polymicrogyria, MONDO:0013583 Tags Q3_25_demote_red Q3_25_expert_review Q3_25_MOI
Green List (high evidence)	LAMP2 Likely inborn error of metabolism v8.92	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources London North GLH NHS GMS Expert Review Green Phenotypes Danon disease Tags
Green List (high evidence)	LAMP2 Rhabdomyolysis and metabolic muscle disorders v5.14	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Danon disease 300257 Tags
Green List (high evidence)	LAMP2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Danon disease, 300257 Tags
Green List (high evidence)	LAMP2 Intellectual disability v9.288	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 Danon disease, 300257 DANON DISEASE (DAND) Tags
Green List (high evidence)	LARGE1 Intellectual disability v9.288	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Gene2Phenotype Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 Muscle-eye-brain disease MDDGA6 Walker-Warburg syndrome Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 congenital muscular dystrophy-dystroglycanopathy with mental retardation MDDGB6 Intellectual disability Tags
Green List (high evidence)	LARGE1 Congenital muscular dystrophy v6.8	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, OMIM:613154 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6, OMIM:608840 Tags
Green List (high evidence)	LARGE1 Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154 N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green List (high evidence)	LARP7 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Alazami syndrome, 615071 ALAZAMI SYNDROME Tags
Green List (high evidence)	LARS Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ?Infantile liver failure syndrome 1, 615438 Tags new-gene-name
Green List (high evidence)	LARS Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Infantile liver failure syndrome 1, MIM# 615438 Tags new-gene-name
Green List (high evidence)	LARS2 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Perrault syndrome 4, OMIM:615300 Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only) Multiple respiratory chain complex deficiencies (disorders of protein synthesis Tags
Green List (high evidence)	LBR Likely inborn error of metabolism v8.92	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes ?Reynolds syndrome 613471 Greenberg skeletal dysplasia 215140 Pelger-Huet anomaly 169400 Pelger-Huet anomaly with mild skeletal anomalies 618019 Tags
Green List (high evidence)	LCAT Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Norum disease/LCAT deficiency, 245900 Fish-eye disease, 136120 Lecithin cholesterol acyltransferase deficiency (Disorders of high density lipoprotein metabolism) Tags
Green List (high evidence)	LCT Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Lactose intolerance (Other carbohydrate disorders) Lactase deficiency, congenital, 223000 Tags
Green List (high evidence)	LDB3 Distal myopathies v6.16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing Phenotypes Myopathy, myofibrillar 4, 609452 Tags
Green List (high evidence)	LDHA Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Literature UKGTN Phenotypes Glycogen storage disease XI 612933 Tags
Green List (high evidence)	LDHA Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen Storage Disease Glycogen storage disease XI, 612933 Muscle LDH deficiency (Glycogen storage disorders) Tags
Green List (high evidence)	LDLR Likely inborn error of metabolism v8.92	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypercholesterolemia, familial, 1 143890 LDL cholesterol level QTL2 143890 Tags
Green List (high evidence)	LDLRAP1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypercholesterolemia, familial, 4 603813 Tags
Green List (high evidence)	LETM1 Likely inborn error of metabolism v8.92	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 Tags
Green List (high evidence)	LETM1 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Phenotypes Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 Tags
Green List (high evidence)	LETM1 Congenital myopathy v6.45	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Phenotypes Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 Tags
Green List (high evidence)	LFNG Likely inborn error of metabolism v8.92	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813 O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green List (high evidence)	LGI3 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007 Tags
Green List (high evidence)	LHX2 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags gene-checked
Green List (high evidence)	LIAS Intellectual disability v9.288	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Hyperglycinemia, lactic acidosis, and seizures, 614462 Tags
Green List (high evidence)	LIAS Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	LIG4 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes LIG4 syndrome, OMIM:606593 Tags
Green List (high evidence)	LINC01578 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, OMIM:621012 Tags gene-checked locus-type-rna-long-non-coding new-gene-name
Green List (high evidence)	LINGO4 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability speech disorder Tags gene-checked
Green List (high evidence)	LINS1 Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Other Expert Review Green Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Mental retardation, autosomal recessive 27, 614340 Tags
Green List (high evidence)	LIPA Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cholesteryl ester storage disease Tags
Green List (high evidence)	LIPT1 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lipoyltransferase 1 deficiency Tags
Green List (high evidence)	LIPT1 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Lipoyltransferase 1 deficiency, MIM#616299 Tags
Green List (high evidence)	LIPT2 Likely inborn error of metabolism v8.92	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 Tags
Green List (high evidence)	LMBRD1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblF type, 277380 Tags
Green List (high evidence)	LMBRD2 Intellectual disability v9.288	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Microcephaly Seizures Abnormality of nervous system morphology Abnormality of the eye Tags gene-checked
Green List (high evidence)	LMF1 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Lipase deficiency, combined OMIM:246650 lipase deficiency, combined MONDO:0009527 Tags
Green List (high evidence)	LMNA Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Phenotypes Limb-Girdle Muscular Dystrophy, Recessive Emery-Dreifuss muscular dystrophy 2, AD, 181350 Limb-girdle muscular dystrophy Tags
Green List (high evidence)	LMNA Congenital muscular dystrophy v6.8	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Congenital Muscular Dystrophy, LMNA-related (Dominant) Emery-Dreifuss muscular dystrophy 2, AD, 181350 Tags
Green List (high evidence)	LMNA Congenital myopathy v6.45	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Congenital fiber type disproportion myopathy Tags
Green List (high evidence)	LMNB1 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Microcephaly 26, primary, autosomal dominant, OMIM:619179 Tags
Green List (high evidence)	LMOD3 Congenital myopathy v6.45	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Literature Phenotypes Nemaline myopathy 10, OMIM:616165 Tags
Green List (high evidence)	LONP1 Intellectual disability v9.288	6 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes CODAS syndrome, 600373 Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome Tags
Green List (high evidence)	LONP1 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373) Tags
Green List (high evidence)	LPIN1 Rhabdomyolysis and metabolic muscle disorders v5.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Myoglobinuria, acute recurrent, autosomal recessive 268200 Tags
Green List (high evidence)	LPIN1 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Myoglobinuria, acute recurrent, autosomal recessive Tags
Green List (high evidence)	LPIN1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Myoglobinuria, acute recurrent, autosomal recessive, 268200 myoglobinuria exercise induced myopathy Tags
Green List (high evidence)	LPL Likely inborn error of metabolism v8.92	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Lipoprotein lipase deficiency, 238600 Combined hyperlipidemia, familial, 144250 Familial lipoprotein lipase deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias) Tags
Green List (high evidence)	LRP2 Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Donnai-Barrow syndrome, 222448 INTELLECTUAL DISABILITY Tags
Green List (high evidence)	LRP4 Congenital myaesthenic syndrome v5.7	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Eligibility statement prior genetic testing Phenotypes ?Myasthenic syndrome, congenital, 17, OMIM:616304 Tags
Green List (high evidence)	LRPPRC Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leigh syndrome, French-Canadian type, 220111 LEIGH SYNDROME, FRENCH-CANADIAN TYPE Tags
Green List (high evidence)	LRPPRC Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Leigh syndrome, French-Canadian type, 220111 Mitochondrial Diseases Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Isolated complex IV deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Tags
Green List (high evidence)	LRRC7 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Expert Review Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	LSS Intellectual disability v9.288	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Literature Phenotypes Alopecia Abnormality of the skin Cataract 44, Hypotrichosis 14, 616509, 618275 Microcephaly Seizures Abnormality of the genital system Hypotonia Intellectual disability Global developmental delay Tags
Green List (high evidence)	LYRM4 Likely inborn error of metabolism v8.92	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 19, OMIM:615595 Tags
Green List (high evidence)	LYRM7 Likely inborn error of metabolism v8.92	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Mitochondrial complex III deficiency, nuclear type 8 Isolated complex III deficiency severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle leukoencephalopathy and complex III deficiency 615838 Tags
Green List (high evidence)	LYRM7 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial complex III deficiency, nuclear type 8, MIM#615838 Tags
Green List (high evidence)	LZTR1 Intellectual disability v9.288	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Noonan syndrome 10 Prenatal hydrops increased nuchal translucency cardiac findings Tags
Green List (high evidence)	MAB21L1 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Literature Phenotypes Global developmental delay Intellectual disability Cerebellar hypoplasia Abnormality of the eye Abnormality of the genital system No OMIM number Tags
Green List (high evidence)	MAB21L2 Intellectual disability v9.288	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MICROPHTHALMIA, SYNDROMIC 14 MCOPS14 Tags
Green List (high evidence)	MACF1 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Literature Phenotypes Intellectual disability Seizures Lissencephaly Brainstem dysplasia Lissencephaly 9 with complex brainstem malformation, 618325 Tags
Green List (high evidence)	MADD Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes DEEAH syndrome, OMIM:619004 deeah syndrome, MONDO:0033561: Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia, OMIM:619005 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia, MONDO:0033562 Tags
Green List (high evidence)	MAF Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES Tags
Green List (high evidence)	MAGEL2 Intellectual disability v9.288	6 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes PRADER WILLI SYNDROME Tags
Green List (high evidence)	MAGT1 Likely inborn error of metabolism v8.92	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853 Tags
Green List (high evidence)	MAN1B1 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Mental Retardation, Recessive Mental retardation, autosomal recessive 15, 614202 AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Green List (high evidence)	MAN1B1 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes MAN1B1-CDG (Disorders of protein N-glycosylation) Mental retardation, autosomal recessive 15 614202 Tags
Green List (high evidence)	MAN2B1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mannosidosis, alpha-, types I and II Tags
Green List (high evidence)	MAN2B1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mannosidosis, alpha-, types I and II, 248500 LYSOSOMAL ALPHA-MANNOSIDOSIS (AM) Tags
Green List (high evidence)	MAN2C1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Literature Phenotypes Congenital disorder of deglycosylation 2, OMIM:619775 Tags
Green List (high evidence)	MANBA Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mannosidosis, beta, 248510 LYSOSOMAL BETA-MANNOSIDOSIS (LYSBMAN) Tags
Green List (high evidence)	MANBA Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mannosidosis, beta 248510 Tags
Green List (high evidence)	MAOA Likely inborn error of metabolism v8.92	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Brunner syndrome 300615 {Antisocial behavior} 300615 Tags
Green List (high evidence)	MAOA Intellectual disability v9.288	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 Brunner syndrome, 300615 BRUNNER SYNDROME (BRUNS) Tags
Green List (high evidence)	MAP1B Intellectual disability v9.288	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Literature Phenotypes Periventricular nodular heterotopia 9, 618918 Tags
Green List (high evidence)	MAP2K1 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cardiofaciocutaneous syndrome 3, 615279 CARDIOFACIOCUTANEOUS SYNDROME (CFC SYNDROME) Tags
Green List (high evidence)	MAP2K2 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cardiofaciocutaneous syndrome 4, 615280 CARDIOFACIOCUTANEOUS SYNDROME (CFC SYNDROME) Tags
Green List (high evidence)	MAP3K20 Congenital myopathy v6.45	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green UCL Phenotypes Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760 Tags
Green List (high evidence)	MAPK1 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Noonan syndrome 13, OMIM:619087 Tags
Green List (high evidence)	MAPK8IP3 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443 Tags
Green List (high evidence)	MAPKAPK5 Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurocardiofaciodigital syndrome, OMIM:619869 Tags
Green List (high evidence)	MAPRE2 Intellectual disability v9.288	5 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 BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Symmetric circumferential skin creases, congenital, 2, 616734 Tags
Green List (high evidence)	MARK2 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	MARS2 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Spastic Ataxia 13, autosomal recessive, 611390 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) ?Combined oxidative phosphorylation deficiency 25 Tags
Green List (high evidence)	MASP1 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3MC SYNDROME 1 3MC1 Tags
Green List (high evidence)	MAST1 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Cerebellar hypoplasia, Abnormality of the cerebral cortex, Seizures Global developmental delay, Intellectual disability, Microcephaly, Autism, Seizures Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 Tags
Green List (high evidence)	MAST3 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Tags
Green List (high evidence)	MAST4 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, MAST4-related Tags gene-checked
Green List (high evidence)	MAT1A Intellectual disability v9.288	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/IIIdeficiency, 250850Methionine adenosyltransferase deficiency, autosomal recessive, 250850 METHIONINE ADENOSYLTRANSFERASE DEFICIENCY Tags
Green List (high evidence)	MAT1A Likely inborn error of metabolism v8.92	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency Tags
Green List (high evidence)	MATR3 Distal myopathies v6.16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Distal Myopathy Tags
Green List (high evidence)	MBD5 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Mental Retardation, Dominant Autosomal Dominant Mental Retardation syndrome type 1 Mental retardation, autosomal dominant 1, 156200 EHMT1-LIKE INTELLECTUAL DISABILITY Tags
Green List (high evidence)	MBOAT7 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Gene2Phenotype Expert Review Green Expert Review Green Phenotypes Mental retardation, autosomal recessive 57, 617188 Intellectual Disability Accompanied by Epilepsy and Autistic Features Autosomal recessive non-syndromic intellectual disability Tags
Green List (high evidence)	MBTPS2 Intellectual disability v9.288	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 Victorian Clinical Genetics Services Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes IFAP syndrome with or without BRESHECK syndrome 308205 IFAP syndrome with or without BRESHECK syndrome,308205 Ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia Tags
Green List (high evidence)	MCCC1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY Tags
Green List (high evidence)	MCCC1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 Tags
Green List (high evidence)	MCCC2 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 Tags
Green List (high evidence)	MCCC2 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY Tags
Green List (high evidence)	MCEE Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Methylmalonyl-CoA epimerase deficiency (Organic acidurias) Methylmalonyl-CoA epimerase deficiency metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections Tags
Green List (high evidence)	MCM3AP Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 Tags
Green List (high evidence)	MCOLN1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mucolipidosis IV, 252650 MUCOLIPIDOSIS IV Tags
Green List (high evidence)	MCOLN1 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mucolipidosis, Type IV Mucolipidosis IV (Other lysosomal disorders) Tags
Green List (high evidence)	MCPH1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Microcephaly 1, primary, autosomal recessive, OMIM:251200 Tags
Green List (high evidence)	MDH2 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 51 617339 Tags
Green List (high evidence)	MDH2 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Epileptic encephalopathy, early infantile, 51, 617339 Tags
Green List (high evidence)	MECP2 Intellectual disability v9.288	4 reviews 4 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 Encephalopathy, neonatal severe, OMIM:300673 Intellectual developmental disorder, X-linked syndromic 13, OMIM:300055 Intellectual developmental disorder, X-linked syndromic, Lubs type, OMIM:300260 Rett syndrome, OMIM:312750 Rett syndrome, atypical, OMIM:312750 Rett syndrome, preserved speech variant, OMIM:312750 Tags
Green List (high evidence)	MECR Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 Tags
Green List (high evidence)	MED11 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, OMIM:620327 Tags
Green List (high evidence)	MED12 Intellectual disability v9.288	5 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Opitz-Kaveggia syndrome, 305450 Lujan-Fryns syndrome, 309520 Ohdo syndrome, X-linked, 300895 OPITZ-KAVEGGIA SYNDROME (OKS) Tags Skewed X-inactivation
Green List (high evidence)	MED13 Intellectual disability v9.288	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Radboud University Medical Center, Nijmegen Phenotypes Delayed speech and language development Motor delay Intellectual disability Autistic behavior Attention deficit hyperactivity disorder Abnormality of the eye Constipation Tags
Green List (high evidence)	MED13L Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789 Tags
Green List (high evidence)	MED17 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY Tags
Green List (high evidence)	MED23 Intellectual disability v9.288	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal recessive 18, 614249 MRT18 Intellectual disability Tags
Green List (high evidence)	MED25 Intellectual disability v9.288	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Basel-Vanagait-Smirin-Yosef syndrome, 616449 BVSYS Syndromic intellectual disability Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome Tags founder-effect
Green List (high evidence)	MED27 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability Axial hypotonia Spasticity Dystonia Cerebellar hypoplasia Cataracts Epilepsy Tags
Green List (high evidence)	MEF2C Intellectual disability v9.288	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 MRSME Chromosome 5q14.3 deletion syndrome, 613443 Tags
Green List (high evidence)	MEGF10 Congenital myopathy v6.45	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, OMIM:614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, OMIM:614399 Tags
Green List (high evidence)	MEIS2 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Cleft palate, cardiac defects, and mental retardation, OMIM:600987 Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970 Tags
Green List (high evidence)	METTL23 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal recessive 44, 615942 Tags
Green List (high evidence)	METTL5 Intellectual disability v9.288	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 72, OMIM:618665 Tags gene-checked
Green List (high evidence)	MFF Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086 Tags
Green List (high evidence)	MFF Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2 Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	MFN2 Likely inborn error of metabolism v8.92	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260 Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087 Hereditary motor and sensory neuropathy VIA, OMIM:601152 Tags
Green List (high evidence)	MFSD2A Intellectual disability v9.288	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486 Tags
Green List (high evidence)	MFSD8 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 7 61095 Tags
Green List (high evidence)	MFSD8 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS Tags
Green List (high evidence)	MGAT2 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type IIa 212066 Tags
Green List (high evidence)	MGAT2 Intellectual disability v9.288	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 IIa, 212066 CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A (CDG2A) Tags
Green List (high evidence)	MGME1 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Mitochondrial DNA depletion syndrome 11, 615084 Disorders of mitochondrial DNA maintenance and integrity Tags
Green List (high evidence)	MICU1 Congenital muscular dystrophy v6.8	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes Myopathy with extrapyramidal signs, 615673 Tags
Green List (high evidence)	MICU1 Congenital myopathy v6.45	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Myopathy with extrapyramidal signs, OMIM:615673 Tags
Green List (high evidence)	MICU1 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy with extrapyramidal signs 615673 Tags
Green List (high evidence)	MICU1 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes MYOPATHY WITH EXTRAPYRAMIDAL SIGNS Tags
Green List (high evidence)	MID1 Intellectual disability v9.288	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 Opitz GBBB syndrome, type I, 300000 OPITZ G/BBB SYNDROME, X-LINKED Tags
Green List (high evidence)	MINPP1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia Tags
Green List (high evidence)	MIPEP Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Phenotypes Combined oxidative phosphorylation deficiency 31, 617228 Tags
Green List (high evidence)	MKKS Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes McKusick-Kaufman syndrome, 236700Bardet-Biedl syndrome 6, 209900 MCKUSICK-KAUFMAN SYNDROME (MKKS) Tags
Green List (high evidence)	MKS1 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MECKEL SYNDROME TYPE 1 (MKS1) Tags
Green List (high evidence)	MLC1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS (MLC) Tags
Green List (high evidence)	MLIP Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138 Tags
Green List (high evidence)	MLIP Congenital myopathy v6.45	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, OMIM:620138 Tags
Green List (high evidence)	MLYCD Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Malonyl-CoA decarboxylase deficiency malonic aciduria Malonyl-CoA decarboxylase deficiency (Organic acidurias) 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism) Tags
Green List (high evidence)	MLYCD Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Malonyl-CoA decarboxylase deficiency, 248360 MALONYL-COA DECARBOXYLASE DEFICIENCY Tags
Green List (high evidence)	MMAA Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Methylmalonic aciduria, vitamin B12-responsive 251100 Defect in adenosylcobalamin synthesis-cbl A (Disorders of cobalamin absorption, transport and metabolism) Tags
Green List (high evidence)	MMAA Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Methylmalonic aciduria, vitamin B12-responsive, 251100 METHYLMALONIC ACIDURIA TYPE CBLA Tags
Green List (high evidence)	MMAB Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Defect in adenosylcobalamin synthesis-cbl B (Disorders of cobalamin absorption, transport and metabolism) Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110 Tags
Green List (high evidence)	MMAB Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes METHYLMALONIC ACIDURIA TYPE CBLB Tags
Green List (high evidence)	MMACHC Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE Tags
Green List (high evidence)	MMACHC Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 Tags
Green List (high evidence)	MMADHC Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Homocystinuria, cblD type, variant 1 Tags
Green List (high evidence)	MMADHC Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Homocystinuria, cblD type, variant 1, 277410Methylmalonic aciduria, cblD type, variant 2, 277410Methylmalonic aciduria and homocystinuria, cblD type, 277410 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD (MMADHC) Tags
Green List (high evidence)	MN1 Intellectual disability v9.288	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes CEBALID syndrome, OMIM:618774 CEBALID syndrome, MONDO:0032908 Tags
Green List (high evidence)	MOCS1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Molybdenum cofactor deficiency, type A, 252150 MOLYBDENUM COFACTOR DEFICIENCY Tags
Green List (high evidence)	MOCS1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Molybdenum cofactor deficiency A 252150 Tags
Green List (high evidence)	MOCS2 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Molybdenum cofactor deficiency, type B, 252150 MOLYBDENUM COFACTOR DEFICIENCY Tags
Green List (high evidence)	MOCS2 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Molybdenum cofactor deficiency B 252160 Tags
Green List (high evidence)	MOGS Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIb 606056 MOGS-CDG (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type IIb, 606056 (MOGS-CDG (Disorders of protein N-glycosylation)) Tags
Green List (high evidence)	MOGS Intellectual disability v9.288	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIb, 606056 Tags
Green List (high evidence)	MORC2 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688 Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, OMIM:619090 Tags
Green List (high evidence)	MPC1 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Mitochondrial pyruvate carrier deficiency, OMIM:614741 Tags
Green List (high evidence)	MPDU1 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type If 609180 Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Tags
Green List (high evidence)	MPDU1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Congenital disorder of glycosylation, type If, 609180 CONGENITAL DISORDERS OF GLYCOSYLATION Tags
Green List (high evidence)	MPI Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ib, OMIM:602579 MPI-CDG, MONDO:0011257 Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation) Tags
Green List (high evidence)	MPLKIP Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Trichothiodystrophy, nonphotosensitive 1, 234050 TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1 Tags
Green List (high evidence)	MPP5 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Delayed speech and language development Developmental regression Behavioral abnormality Tags gene-checked new-gene-name
Green List (high evidence)	MPV17 Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial DNA Depletion Syndrome Disorders of mitochondrial DNA maintenance and integrity Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3 Tags
Green List (high evidence)	MRM2 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes ?Mitochondrial DNA depletion syndrome 17, OMIM:618567 Tags
Green List (high evidence)	MRPL3 Likely inborn error of metabolism v8.92	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 9 614582 Tags
Green List (high evidence)	MRPL44 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ?Combined oxidative phosphorylation deficiency 16, 615395 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Green List (high evidence)	MRPS2 Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 36 617950 No OMIM phenotype Tags
Green List (high evidence)	MRPS22 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 5, 611719 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Green List (high evidence)	MRPS22 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Combined oxidative phosphorylation deficiency 5, 611719 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 Tags
Green List (high evidence)	MRPS34 Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Expert list Phenotypes Combined oxidative phosphorylation deficiency 32 617664 Tags
Green List (high evidence)	MRPS34 Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Literature Phenotypes Combined oxidativephosphorylation deficiency 32, 617664 Tags
Green List (high evidence)	MSL2 Intellectual disability v9.288	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Karayol-Borroto-Haghshenas neurodevelopmental syndrome, OMIM:620985 Tags
Green List (high evidence)	MSL3 Intellectual disability v9.288	7 reviews 3 green 2 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular hypotonia Feeding difficulties Neurodevelopmental delay Intellectual disability Basilicata-Akhtar syndrome, 301032 Tags
Green List (high evidence)	MSMO1 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis) Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793 Tags
Green List (high evidence)	MSMO1 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793 Tags
Green List (high evidence)	MSTO1 Likely inborn error of metabolism v8.92	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert list Expert Review Green Phenotypes Myopathy, mitochondrial, and ataxia OMIM:617675 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714 Tags
Green List (high evidence)	MSTO1 Congenital muscular dystrophy v6.8	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Phenotypes Myopathy, mitochondrial, and ataxia, OMIM:617675 Tags
Green List (high evidence)	MT-ATP6 Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked
Green List (high evidence)	MT-ATP8 Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency Tags gene-checked
Green List (high evidence)	MT-CO1 Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes CYTOCHROME c OXIDASE I DEFICIENCY SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC LEBER OPTIC ATROPHY MYOGLOBINURIA, RECURRENT CYTOCHROME c OXIDASE DEFICIENCY Tags gene-checked
Green List (high evidence)	MT-CO1 Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 2 green	MITOCHONDRIAL	Sources NHS GMS Expert Review Green Expert Review Expert list Phenotypes Leber hereditary optic neuropathy, MONDO:0010788 myoglobinuria, MONDO:0000866 Tags gene-checked
Green List (high evidence)	MT-CO2 Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 2 green	MITOCHONDRIAL	Sources NHS GMS Expert Review Green Expert Review Expert list Phenotypes Cytochrome oxidase deficiency rhabdomyolysis, MONDO:0005290 myoglobinuria, MONDO:0000866 Tags gene-checked
Green List (high evidence)	MT-CO2 Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes CYTOCHROME c OXIDASE DEFICIENCY Tags gene-checked
Green List (high evidence)	MT-CO3 Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes LEBER OPTIC ATROPHY SEIZURES AND LACTIC ACIDOSIS MITOCHONDRIAL COMPLEX IV DEFICIENCY Tags gene-checked
Green List (high evidence)	MT-CYB Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes ENCEPHALOMYOPATHY, MITOCHONDRIAL CARDIOMYOPATHY, INFANTILE HISTIOCYTOID MULTISYSTEM DISORDER EXERCISE INTOLERANCE PARKINSONISM/MELAS OVERLAP SYNDROME EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA LEBER OPTIC ATROPHY Tags gene-checked
Green List (high evidence)	MT-ND1 Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MELAS SYNDROME MITOCHONDRIAL COMPLEX I DEFICIENCY LEBER OPTIC ATROPHY DYSTONIA, ADULT-ONSET DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL SUDDEN INFANT DEATH SYNDROME Tags gene-checked
Green List (high evidence)	MT-ND2 Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY LEBER OPTIC ATROPHY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Tags gene-checked
Green List (high evidence)	MT-ND3 Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Tags gene-checked
Green List (high evidence)	MT-ND4 Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MELAS SYNDROME LEBER OPTIC ATROPHY AND DYSTONIA LEBER OPTIC ATROPHY MITOCHONDRIAL COMPLEX I DEFICIENCY Tags gene-checked
Green List (high evidence)	MT-ND4L Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes LEBER OPTIC ATROPHY Tags gene-checked
Green List (high evidence)	MT-ND5 Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MELAS SYNDROME LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY LEBER OPTIC ATROPHY MERRF SYNDROME Tags gene-checked
Green List (high evidence)	MT-ND6 Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MELAS SYNDROME STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA LEBER OPTIC ATROPHY AND DYSTONIA LEBER OPTIC ATROPHY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Tags gene-checked
Green List (high evidence)	MT-RNR1 Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes DEAFNESS, AMINOGLYCOSIDE-INDUCED DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL AUDITORY NEUROPATHY CARDIOMYOPATHY, RESTRICTIVE Tags gene-checked locus-type-rna-ribosomal
Green List (high evidence)	MT-TA Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MITOCHONDRIAL MYOPATHY MYOTONIC DYSTROPHY-LIKE MYOPATHY Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TC Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MELAS SYNDROME DYSTONIA, MITOCHONDRIAL Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TD Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MITOCHONDRIAL MYOPATHY, ISOLATED Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TE Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS DIABETES AND DEAFNESS, MATERNALLY INHERITED MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TF Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TG Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TH Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TI Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Phenotypes familial hypertrophic cardiomyopathy, MONDO:0024573 familial dilated cardiomyopathy, MONDO:0016333 Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TK Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TL1 Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TL2 Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TM Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TN Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TP Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TQ Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TR Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TS1 Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TS2 Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TT Likely inborn error of metabolism v8.92	5 reviews 3 green	MITOCHONDRIAL	Sources Expert Review Green NHS GMS Phenotypes mitochondrial disease, MONDO:0044970 Leber optic atrophy, OMIM:535000 myoclonic epilepsy associated with ragged-red fibers, OMIM:545000 fatal infantile respiratory enzyme deficiency Inherited Diabetes Mellitus adult onset mild myopathy Tags gene-checked
Green List (high evidence)	MT-TV Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TW Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MT-TY Likely inborn error of metabolism v8.92	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MTFMT Likely inborn error of metabolism v8.92	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 15 OMIM:614947 combined oxidative phosphorylation defect type 15 MONDO:0013987 Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248 mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631 Tags
Green List (high evidence)	MTFMT Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Combined oxidative phosphorylation deficiency 15 OMIM:614947 combined oxidative phosphorylation defect type 15 MONDO:0013987 Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248 mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631 Tags
Green List (high evidence)	MTHFR Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY (MTHFRD) Tags
Green List (high evidence)	MTHFR Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Methylenetetrahydrofolate reductase deficiency (Disorders of folate metabolism and transport) Homocystinuria due to MTHFR deficiency Tags
Green List (high evidence)	MTHFS Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 Tags
Green List (high evidence)	MTM1 Congenital myopathy v6.45	6 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Phenotypes Myopathy, centronuclear, X-linked, OMIM:310400 Tags
Green List (high evidence)	MTM1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Yorkshire and North East GLH Expert Review Expert Review Green Expert list Literature Phenotypes Myopathy, centronuclear, X-linked, OMIM:310400 Tags
Green List (high evidence)	MTO1 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 10, 614702 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) infantile hypertrophic cardiomyopathy and lactic acidosis. Tags
Green List (high evidence)	MTO1 Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Combined oxidative phosphorylation deficiency 10, 614702 Tags
Green List (high evidence)	MTOR Intellectual disability v9.288	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Smith-Kingsmore syndrome, 616638 Intellectual Disability Focal cortical dysplasia, type II, somatic 607341 Tags missense mosaicism somatic
Green List (high evidence)	MTPAP Likely inborn error of metabolism v8.92	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes ?Spastic ataxia 4, autosomal recessive 613672 Tags
Green List (high evidence)	MTR Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 {Neural tube defects, folate-sensitive, susceptibility to}, 601634 METHYLCOBALAMIN DEFICIENCY TYPE G (CBLG) Tags
Green List (high evidence)	MTR Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type Tags
Green List (high evidence)	MTRR Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Homocystinuria-megaloblastic anemia, cbl E type Tags
Green List (high evidence)	MTRR Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270{Neural tube defects, folate-sensitive, susceptibility to}, 601634 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE Tags
Green List (high evidence)	MTSS1L Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes Intellectual developmental disorder with ocular anomalies and distinctive facial features, OMIM:620086 Tags new-gene-name
Green List (high evidence)	MTTP Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Abetalipoproteinemia, 200100 (ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY) Familial abetalipoproteinaemia (Inherited hypolipidaemias) Tags
Green List (high evidence)	MUSK Congenital myaesthenic syndrome v5.7	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, OMIM:616325 Tags deletions
Green List (high evidence)	MUT Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections. Methylmalonic aciduria, mut(0) type 251000 Methylmalonyl-CoA mutase deficiency (Organic acidurias) Tags new-gene-name
Green List (high evidence)	MUT Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Methylmalonic aciduria, mut(0) type, 251000 METHYLMALONIC ACIDURIA TYPE MUT Tags new-gene-name
Green List (high evidence)	MVK Intellectual disability v9.288	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mevalonic aciduria, OMIM:610377 Tags
Green List (high evidence)	MVK Likely inborn error of metabolism v8.92	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hyper-IgD syndrome, OMIM:260920 Mevalonic aciduria, OMIM:610377 Porokeratosis 3, multiple types, OMIM:175900 Tags
Green List (high evidence)	MYBPC1 Congenital myopathy v6.45	4 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Expert Phenotypes Arthrogryposis, distal, type 1B, OMIM:614335 Lethal congenital contracture syndrome 4, OMIM:614915 Myopathy, congenital, with tremor, OMIM:618524 Tags
Green List (high evidence)	MYCN Intellectual disability v9.288	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Feingold syndrome 1, OMIM:164280 Tags
Green List (high evidence)	MYH10 Intellectual disability v9.288	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Gene2Phenotype Phenotypes Neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 MYH10-related Multiple congenital anomalies Tags gene-checked
Green List (high evidence)	MYH2 Congenital myopathy v6.45	6 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Proximal myopathy and ophthalmoplegia, OMIM:605637 Tags
Green List (high evidence)	MYH3 Congenital myopathy v6.45	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert UKGTN Phenotypes Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700 Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436 Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110 Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469 Tags
Green List (high evidence)	MYH7 Distal myopathies v6.16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Laing distal myopathy, OMIM:160500 Laing early-onset distal myopathy, MONDO:0008050 Scapuloperoneal syndrome, myopathic type, OMIM:181430 MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409 Tags
Green List (high evidence)	MYH7 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Laing distal myopathy, OMIM:160500 Myopathy, myosin storage, autosomal dominant, OMIM:608358 Myopathy, myosin storage, autosomal recessive, OMIM:255160 Scapuloperoneal syndrome, myopathic type, OMIM:181430 Tags
Green List (high evidence)	MYH7 Congenital myopathy v6.45	6 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Laing distal myopathy, OMIM:160500 Myopathy, myosin storage, autosomal dominant, OMIM:608358 Myopathy, myosin storage, autosomal recessive, OMIM:255160 Tags
Green List (high evidence)	MYL1 Congenital myopathy v6.45	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Expert Review Phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414 Tags
Green List (high evidence)	MYL2 Congenital myopathy v6.45	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424 Tags
Green List (high evidence)	MYMK Congenital myopathy v6.45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Carey-Fineman-Ziter syndrome, OMIM:254940 Tags
Green List (high evidence)	MYMX Congenital myopathy v6.45	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Carey-Fineman-Ziter syndrome 2, OMIM:619941 Carey-Fineman-Ziter syndrome 2, MONDO:0100292 Tags gene-checked
Green List (high evidence)	MYO18B Congenital myopathy v6.45	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549 Tags
Green List (high evidence)	MYO5A Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Griscelli syndrome, type 1, 214450 ELEJALDE SYNDROME (ELEJAS) Tags
Green List (high evidence)	MYO9A Congenital myaesthenic syndrome v5.7	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Literature Phenotypes Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198 Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597 Tags
Green List (high evidence)	MYOD1 Congenital myopathy v6.45	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975 Tags
Green List (high evidence)	MYOT Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Myopathy, myofibrillar, 3, OMIM:609200 Myopathy, spheroid body, OMIM:182920 Tags
Green List (high evidence)	MYOT Distal myopathies v6.16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing Phenotypes Myopathy, myofibrillar, 3, OMIM:609200 Myopathy, spheroid body, OMIM:182920 Tags
Green List (high evidence)	MYPN Congenital myopathy v6.45	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH UCL Phenotypes Nemaline myopathy 11, autosomal recessive, OMIM:617336 Tags
Green List (high evidence)	MYT1L Intellectual disability v9.288	5 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Mental retardation, autosomal dominant 39, 616521 MRD39 Intellectual disability obesity Tags
Green List (high evidence)	NAA10 Intellectual disability v9.288	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 N-terminal acetyltransferase deficiency, 300855 NONPECIFIC SEVERE ID Tags
Green List (high evidence)	NAA15 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 50, 617787 Intellectual disability Tags
Green List (high evidence)	NACC1 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Other Phenotypes Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 profound developmental delay Tags missense
Green List (high evidence)	NADK2 Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes 2,4-dienoyl-CoA reductase deficiency, OMIM:616034 Tags
Green List (high evidence)	NAGA Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Schindler disease, type I, 609241Kanzaki disease, 609242Schindler disease, type III, 609241 KANZAKI DISEASE (KANZD) Tags
Green List (high evidence)	NAGA Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Kanzaki disease Tags
Green List (high evidence)	NAGLU Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mucopolysaccharidosis Type III Mucopolysaccharidosis, Type III Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses) MUCOPOLYSACCHARIDOSIS TYPE 3B Mucopolysaccharidosis Type IIIB Tags
Green List (high evidence)	NAGLU Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 MUCOPOLYSACCHARIDOSIS TYPE 3B (MPS3B) Tags
Green List (high evidence)	NAGS Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes N-Acetylglutamate synthetase deficiency (Urea cycle disorders and inherited hyperammonaemias) N-acetylglutamate synthase deficiency Tags
Green List (high evidence)	NALCN Intellectual disability v9.288	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 Congenital contractures of the limbs and face, hypotonia, and developmental delay, OMIM:616266 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, OMIM:615419 Tags
Green List (high evidence)	NANS Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442 Tags
Green List (high evidence)	NAPB Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Developmental and epileptic encephalopathy 107, OMIM:620033 Tags
Green List (high evidence)	NARS Intellectual disability v9.288	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, OMIM:619091 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, OMIM:619092 Tags new-gene-name
Green List (high evidence)	NARS2 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 24 Tags
Green List (high evidence)	NAXD Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321 Tags
Green List (high evidence)	NAXE Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186 Tags
Green List (high evidence)	NBEA Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Literature Phenotypes Global developmental delay Intellectual disability Seizures No OMIM number Tags
Green List (high evidence)	NCDN Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual disability epilepsy Tags
Green List (high evidence)	NCKAP1 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability Autism Tags gene-checked
Green List (high evidence)	NDE1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Lissencephaly 4 (with microcephaly), 614019 LISSENCEPHALY 4 (WITH MICROCEPHALY) Tags
Green List (high evidence)	NDP Intellectual disability v9.288	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 Norrie disease, 310600Exudative vitreoretinopathy, X-linked, 305390 NORRIE DISEASE Tags
Green List (high evidence)	NDST1 Intellectual disability v9.288	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Mental retardation, autosomal recessive 46, 616116 MRT46 Intellectual disability Tags
Green List (high evidence)	NDUFA1 Intellectual disability v9.288	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 Mitochondrial complex I deficiency, 252010 MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY (NUCLEAR GENES) Tags
Green List (high evidence)	NDUFA1 Likely inborn error of metabolism v8.92	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 Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency Tags
Green List (high evidence)	NDUFA10 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial Diseases Isolated complex I deficiency Leigh syndrome, 256000 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green List (high evidence)	NDUFA11 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green List (high evidence)	NDUFA12 Likely inborn error of metabolism v8.92	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 Tags
Green List (high evidence)	NDUFA13 Likely inborn error of metabolism v8.92	6 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 28, OMIM:618249 Tags
Green List (high evidence)	NDUFA2 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green List (high evidence)	NDUFA2 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial complex I deficiency, nuclear type 13, MIM#618235 Tags
Green List (high evidence)	NDUFA4 Likely inborn error of metabolism v8.92	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes ?Mitochondrial complex IV deficiency, nuclear type 21, OMIM:619065 mitochondrial complex IV deficiency, nuclear type 21, MONDO:0033656 Tags new-gene-name
Green List (high evidence)	NDUFA6 Likely inborn error of metabolism v8.92	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253 Tags
Green List (high evidence)	NDUFA8 Likely inborn error of metabolism v8.92	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 37, OMIM:619272 Tags
Green List (high evidence)	NDUFA9 Likely inborn error of metabolism v8.92	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3 Isolated complex I deficiency Mitochondrial complex I deficiency, nuclear type 26, 618247 Leigh syndrome due to mitochondrial complex I deficiency, 256000 Tags
Green List (high evidence)	NDUFAF1 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green List (high evidence)	NDUFAF2 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Isolated complex I deficiency Leigh syndrome, 256000 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green List (high evidence)	NDUFAF3 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green List (high evidence)	NDUFAF4 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green List (high evidence)	NDUFAF5 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex 1 deficiency, 252010 Mitochondrial Diseases Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Isolated complex I deficiency Tags
Green List (high evidence)	NDUFAF6 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Isolated complex I deficiency Tags
Green List (high evidence)	NDUFAF8 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776 Tags gene-checked
Green List (high evidence)	NDUFB10 Likely inborn error of metabolism v8.92	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003 Tags
Green List (high evidence)	NDUFB11 Likely inborn error of metabolism v8.92	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Linear skin defects with multiple congenital anomalies 3 microphthalmia with linear skin defects syndrome histiocytoid cardiomyopathy Isolated complex I deficiency Tags
Green List (high evidence)	NDUFB3 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246 Tags
Green List (high evidence)	NDUFB8 Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 32, 618252 No OMIM phenotype Isolated complex I deficiency Tags
Green List (high evidence)	NDUFC2 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170 Tags
Green List (high evidence)	NDUFS1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 Tags
Green List (high evidence)	NDUFS1 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex I deficiency Tags
Green List (high evidence)	NDUFS2 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green List (high evidence)	NDUFS3 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial Diseases Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010 Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green List (high evidence)	NDUFS4 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Leigh syndrome, 256000 Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green List (high evidence)	NDUFS4 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010 MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY (NUCLEAR GENES) Tags
Green List (high evidence)	NDUFS6 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial Diseases Isolated complex I deficiency Complex I, mitochondrial respiratory chain, deficiency of, 252010 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green List (high evidence)	NDUFS7 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leigh syndrome, 256000 MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY (NUCLEAR GENES) Tags
Green List (high evidence)	NDUFS7 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial Diseases Isolated complex I deficiency Leigh syndrome, 256000 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green List (high evidence)	NDUFS8 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000 MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY (NUCLEAR GENES) Tags
Green List (high evidence)	NDUFS8 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green List (high evidence)	NDUFV1 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green List (high evidence)	NDUFV1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex I deficiency, 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY Tags
Green List (high evidence)	NDUFV2 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Tags
Green List (high evidence)	NEB Distal myopathies v6.16	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Nemaline myopathy 2, OMIM:256030 distal myopathy, MONDO:0018949 Tags dd_review Q3_25_MOI
Green List (high evidence)	NEB Congenital myopathy v6.45	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Phenotypes Nemaline myopathy 2, autosomal recessive, OMIM:256030 Tags watchlist_moi
Green List (high evidence)	NEDD4L Intellectual disability v9.288	6 reviews 2 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Periventricular nodular heterotopia 7, 617201 Tags
Green List (high evidence)	NEMF Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypotonia Global developmental delay Intellectual disability Axonal neuropathy Ataxia Abnormal brain imaging Kyphosis Scoliosis Tremor Respiratory distress Tags
Green List (high evidence)	NEU1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Sialidosis, type I, OMIM:256550 Sialidosis, type II, OMIM:256550 Tags
Green List (high evidence)	NEU1 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Sialidosis, type I, OMIM:256550 Sialidosis, type II, OMIM:256550 Mucolipidosis, Type I Tags
Green List (high evidence)	NEUROD2 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 72, OMIM:618374 Tags
Green List (high evidence)	NEUROG1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 Tags
Green List (high evidence)	NEXMIF Intellectual disability v9.288	6 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 Emory Genetics Laboratory Phenotypes Mental retardation, X-linked 98, 300912 KIAA2022 Tags
Green List (high evidence)	NF1 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Neurofibromatosis, type 1, 162200Leukemia, juvenile myelomonocytic, 607785Melanoma, desmoplastic neurotrophic (2)Neurofibromatosis, familial spinal, 162210Neurofibromatosis-Noonan syndrome, 601321Watson syndrome, 193520 NEUROFIBROMATOSIS-NOONAN SYNDROME (NFNS) Tags
Green List (high evidence)	NFASC Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356 neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:003269 Tags
Green List (high evidence)	NFIA Intellectual disability v9.288	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Phenotypes Brain malformations with or without urinary tract defects, 613735 BRMUTD Intellectual disability Chromosome 1p32-p31 deletion syndrome, included Tags deletions
Green List (high evidence)	NFIX Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes SOTOS-LIKE SYNDROME Tags
Green List (high evidence)	NFS1 Likely inborn error of metabolism v8.92	6 reviews 3 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 52, OMIM:619386 Tags treatable
Green List (high evidence)	NFU1 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711 Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	NFU1 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711 Tags
Green List (high evidence)	NGLY1 Intellectual disability v9.288	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CONGENITAL DISORDER OF DEGLYCOSYLATION CDDG Tags
Green List (high evidence)	NGLY1 Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes OrphaNet: ORPHA404454 Congenital disorder of deglycosylation 615273 Alacrimia-choreoathetosis-liver dysfunction syndrome OMIM:615273 Tags
Green List (high evidence)	NHLRC1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Epilepsy, progressive myoclonic 2B (Lafora) Tags
Green List (high evidence)	NHS Intellectual disability v9.288	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 Nance-Horan syndrome, 302350Cataract 40, X-linked, 302200 NANCE-HORAN SYNDROME (NHS) Tags
Green List (high evidence)	NIPBL Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cornelia de Lange syndrome 1, 122470 CORNELIA DE LANGE SYNDROME TYPE 1 (CDLS1) Tags
Green List (high evidence)	NKAP Intellectual disability v9.288	5 reviews 1 green 3 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 Phenotypes Global developmental delay Intellectual disability Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type #301039 Tags missense
Green List (high evidence)	NKX2-1 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Goiter, familial, due to TTF-1 defect (1)Chorea, hereditary benign, 118700Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 BENIGN HEREDITARY CHOREA Tags
Green List (high evidence)	NLGN3 Intellectual disability v9.288	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 AUTISM SPECTRUM DISORDERS Tags
Green List (high evidence)	NNT Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 Tags
Green List (high evidence)	NONO Intellectual disability v9.288	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Mental retardation, X-linked, syndromic 34, 300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC, MIRCSOF-LANGOUET TYPE MRXSML Macrocephaly-intellectual disability-left ventricular non compaction syndrome Syndromic intellectual disability Tags
Green List (high evidence)	NOVA2 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 618859 Tags
Green List (high evidence)	NPC1 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes NIEMANN-PICK DISEASE, TYPE C1 Tags
Green List (high evidence)	NPC1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Niemann-Pick disease, type C1 Tags
Green List (high evidence)	NPC2 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Niemann-Pick disease type C2, 607625 Tags
Green List (high evidence)	NPC2 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes NIEMANN-PICK DISEASE, TYPE C2 Tags
Green List (high evidence)	NPHP1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Nephronophthisis 1, juvenile, 256100Senior-Loken syndrome-1, 266900Joubert syndrome 4, 609583 SENIOR-LOKEN SYNDROME TYPE 1 (SLSN1) Tags
Green List (high evidence)	NR2F1 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Bosch-Boonstra-Schaaf optic atrophy syndrome, OMIM:615722 Tags
Green List (high evidence)	NR2F2 Intellectual disability v9.288	7 reviews 4 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Congenital heart defects, multiple types, 4, 615779 Tags
Green List (high evidence)	NR4A2 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Phenotypes Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, OMIM:619911 Tags Autism Spectrum Disorder
Green List (high evidence)	NRAS Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Autoimmune lymphoproliferative syndrome type IV, 614470Noonan syndrome 6, 613224Epidermal nevus, somatic, 162900Thyroid carcinoma, follicular, somatic, 188470Colorectal cancer, somatic, 114500 NOONAN SYNDROME TYPE 6 Tags
Green List (high evidence)	NRCAM Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833 Tags
Green List (high evidence)	NRROS Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Seizures, early-onset, with neurodegeneration and brain calcification 618875 Tags
Green List (high evidence)	NRXN1 Intellectual disability v9.288	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Pitt-Hopkins-like syndrome 2, OMIM:614325 (AR) Complex neurodevelopmental disorder (AD) Tags
Green List (high evidence)	NSD1 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Sotos syndrome 1, 117550Leukemia, acute myeloid, 601626 (1)Beckwith-Wiedemann syndrome, 130650 WEAVER SYNDROME (WES) Tags
Green List (high evidence)	NSD2 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Literature Phenotypes Rauch-Steindl syndrome, OMIM:619695 Rauch-Steindl syndrome, MONDO:0859219 Tags
Green List (high evidence)	NSDHL Likely inborn error of metabolism v8.92	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital hemidysplasia with ichtyosiform erythroderma and limb defects (Disorders of sterol biosynthesis) CHILD syndrome 308050 XLD CK syndrome 300831 XLR Tags
Green List (high evidence)	NSDHL Intellectual disability v9.288	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 CHILD syndrome, 308050CK syndrome, 300831 CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (CHILD) Tags
Green List (high evidence)	NSRP1 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes NSRP1-associated developmental delay, epilepsy and microcephaly Tags
Green List (high evidence)	NSUN2 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Mental Retardation, Recessive Mental retardation, autosomal recessive 5, 611091 AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5 Tags
Green List (high evidence)	NSUN3 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Combined oxidative phosphorylation deficiency 48, OMIM:619012 Tags
Green List (high evidence)	NT5C2 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spastic paraplegia 45, autosomal recessive, 613162 Intellectual disability Tags
Green List (high evidence)	NT5C3A Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Anemia, hemolytic, due to UMPH1 deficiency, 266120 Uridine-5 -monophosphate hydrolase superactivity (Disorders of pyrimidine metabolism) Tags
Green List (high evidence)	NT5E Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Calcification of joints and arteries, OMIM:211800 hereditary arterial and articular multiple calcification syndrome, MONDO:0008895 Tags
Green List (high evidence)	NTNG2 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, OMIM:618718 Tags gene-checked
Green List (high evidence)	NTRK1 Intellectual disability v9.288	5 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Insensitivity to pain, congenital, with anhidrosis, 256800 Tags
Green List (high evidence)	NTRK2 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Phenotypes Epileptic encephalopathy, early infantile, 58, 617830 Obesity, hyperphagia, and developmental delay, 613886 Tags
Green List (high evidence)	NUBPL Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Isolated complex I deficiency Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green List (high evidence)	NUBPL Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 21, OMIM:618242 Tags
Green List (high evidence)	NUDT2 Intellectual disability v9.288	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Literature Phenotypes Muscular hypotonia Global developmental delay Intellectual disability Polyneuropathy no OMIM number Tags
Green List (high evidence)	NUP214 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes developmental delay intellectual disability epileptic encephalopathy developmental regression microcephaly {Encephalopathy, acute, infection-induced, susceptibility to, 9}, 618426 Tags
Green List (high evidence)	NUS1 Intellectual disability v9.288	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Phenotypes Mental retardation, autosomal dominant 55, with seizures, OMIM:617831 Congenital disorder of glycosylation, type 1aa, OMIM:617082 Tags
Green List (high evidence)	NUS1 Likely inborn error of metabolism v8.92	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Phenotypes Intellectual developmental disorder, autosomal dominant 55, with seizures, OMIM:617831 ?Congenital disorder of glycosylation, type 1aa, OMIM:617082 Tags
Green List (high evidence)	OAT Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ornithine aminotransferase deficiency (Disorders of ornithine or proline metabolism) Gyrate atrophy of choroid and retina with or without ornithinemia Tags
Green List (high evidence)	OBSCN Rhabdomyolysis and metabolic muscle disorders v5.14	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Phenotypes {Rhabdomyolysis, susceptibility to, 1}, OMIM:620235 Tags
Green List (high evidence)	OCLN Intellectual disability v9.288	5 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Pseudo-TORCH syndrome 1, 251290 (includes profound developmental delay) Band-like calcification with simplified gyration and polymicrogyria Tags
Green List (high evidence)	OCRL Likely inborn error of metabolism v8.92	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dent disease 2, OMIM:300555 Lowe syndrome, OMIM:309000 Tags
Green List (high evidence)	OCRL Intellectual disability v9.288	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Lowe syndrome, 309000Dent disease 2, 300555 LOWE OCULOCEREBRORENAL SYNDROME (OCRL) Tags
Green List (high evidence)	ODC1 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Literature Phenotypes Bachmann-Bupp syndrome, OMIM:619075 Tags
Green List (high evidence)	OFD1 Intellectual disability v9.288	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 Oral-facial-digital syndrome 1, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209Joubert syndrome 10, 300804 ORAL-FACIAL-DIGITAL SYNDROME TYPE 1 (OFD1) Tags
Green List (high evidence)	OGDH Likely inborn error of metabolism v8.92	5 reviews 3 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740 oxoglutaricaciduria, MONDO:0008759 Tags
Green List (high evidence)	OGDHL Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Yoon-Bellen neurodevelopmental syndrome, OMIM:619701 Tags gene-checked
Green List (high evidence)	OGT Intellectual disability v9.288	3 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 Phenotypes Mental retardation, X-linked 106, 300997 Tags
Green List (high evidence)	OPA1 Likely inborn error of metabolism v8.92	4 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Optic atrophy 1, OMIM:165500 Optic atrophy plus syndrome, OMIM:125250 Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896 Behr syndrome, OMIM:210000 Tags
Green List (high evidence)	OPA3 Likely inborn error of metabolism v8.92	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias) 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300 Tags
Green List (high evidence)	OPA3 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes 3-methylglutaconic aciduria, type III, 258501 Costeff syndrome Cognitive regression Tags
Green List (high evidence)	OPHN1 Intellectual disability v9.288	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, with cerebellar hypoplasia and distinctive facial appearance, 300486 MENTAL RETARDATION X-LINKED OPHN1-RELATED (MRXSO) Tags
Green List (high evidence)	ORAI1 Congenital myopathy v6.45	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Green Expert UKGTN Phenotypes Myopathy, tubular aggregate, 2, OMIM:615883 Tags missense
Green List (high evidence)	ORAI1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Expert Review Phenotypes Myopathy, tubular aggregate, 2, 615883 Tags
Green List (high evidence)	OSGEP Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galloway-Mowat syndrome 3, 617729 Intellectual disability Tags
Green List (high evidence)	OTC Intellectual disability v9.288	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes CGD Ornithine transcarbamylase deficiency, 311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY Tags gene-therapy-trial
Green List (high evidence)	OTC Likely inborn error of metabolism v8.92	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ornithine transcarbamylase deficiency, 311250 Ornithine transcarbamylase deficiency (Urea cycle disorders and inherited hyperammonaemias) Tags
Green List (high evidence)	OTUD5 Intellectual disability v9.288	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056 Tags
Green List (high evidence)	OTUD6B Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 Tags
Green List (high evidence)	OTUD7A Intellectual disability v9.288	6 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes developmental and epileptic encephalopathy, MONDO:0100062 intellectual disability, MONDO:0001071 Tags
Green List (high evidence)	OTX2 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes MICROPHTHALMIA SYNDROMIC TYPE 5 (MCOPS5) Tags
Green List (high evidence)	OXCT1 Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Succinyl CoA:3-oxoacid CoA transferase deficiency severe ketosis on fasting often ketotic in fed state no hepatomegaly Succinyl-CoA:3-Oxoacid-CoA transferase (SCOT) deficiency (Disorders of ketone body metabolism) Succinyl CoA:3-oxoacid CoA transferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	OXR1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 213000 Tags
Green List (high evidence)	P4HTM Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Expert Review Literature Phenotypes Abnormality of the eye Seizures Dysautonomia Central hypotonia Muscular hypotonia Hypoventilation Intellectual disability Sleep apnea Global developmental delay Central hypotonia, Muscular hypotonia, Global developmental delay, Intellectual disability, Seizures, Abnormality of the eye, Hypoventilation, Sleep apnea, Dysautonomia Tags
Green List (high evidence)	PABPC1 Intellectual disability v9.288	4 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Global developmental delay Expressive language delay Intellectual disability Behavioral abnormality Seizures Tags dd_review gene-checked Q4_24_MOI
Green List (high evidence)	PACS1 Intellectual disability v9.288	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 17, 615009 INTELLECTUAL DISABILITY Tags
Green List (high evidence)	PACS2 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 66, 618067 Global developmental delay Intellectual disability Seizures Abnormality of the cerebellum Tags
Green List (high evidence)	PAFAH1B1 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Emory Genetics Laboratory Phenotypes Lissencephaly 1, OMIM:607432 Subcortical laminar heterotopia, OMIM:607432 Tags
Green List (high evidence)	PAH Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Phenylketonuria, 261600[Hyperphenylalaninemia, non-PKU mild], 261600 NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA (NON-PKU HPA) Tags
Green List (high evidence)	PAH Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Phenylketonuria Tags
Green List (high evidence)	PAK1 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with macrocephaly, seizures, and speech delay, 618158 Tags missense
Green List (high evidence)	PAK3 Intellectual disability v9.288	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Mental retardation, X-linked 30/47, 300558 Mental Retardation, X-linked AGENESIS OF THE CORPUS CALLOSUM Tags
Green List (high evidence)	PAN2 Intellectual disability v9.288	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies, OMIM:621384 Tags
Green List (high evidence)	PANK2 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes HARP syndrome 607236 Neurodegeneration with brain iron accumulation 234200 Tags
Green List (high evidence)	PARN Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Dyskeratosis congenita, autosomal recessive 6, OMIM:616353 Tags
Green List (high evidence)	PARS2 Likely inborn error of metabolism v8.92	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Epileptic encephalopathy, early infantile, 75, 618437Alpers syndrome. Epileptic encephalopathy, early infantile, 75, 618437 Alpers syndrome Tags
Green List (high evidence)	PAX7 Congenital myopathy v6.45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Phenotypes Myopathy, congenital, progressive, with scoliosis, OMIM:618578 Tags
Green List (high evidence)	PAX8 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 (CHNG2) Tags
Green List (high evidence)	PBX1 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Tags
Green List (high evidence)	PC Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Pyruvate carboxylase deficiency, OMIM:266150 Tags
Green List (high evidence)	PC Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Pyruvate carboxylase deficiency, OMIM:266150 Tags
Green List (high evidence)	PCBD1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperphenylalaninemia, BH4-deficient, D Tags
Green List (high evidence)	PCCA Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Propionicacidemia Propionic acidemia Propionicacidemia 606054 metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections Propionic aciduria (Organic acidurias) Tags
Green List (high evidence)	PCCA Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes PROPIONIC ACIDEMIA Tags
Green List (high evidence)	PCCB Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes PROPIONIC ACIDEMIA Tags
Green List (high evidence)	PCCB Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections) Propionic acidemia Propionicacidemia 606054 Propionicacidemia Propionic aciduria (Organic acidurias) Tags
Green List (high evidence)	PCDH12 Intellectual disability v9.288	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes intellectual disability microcephaly epilepsy perithalamic hyperechogenicity periventricular hyperechogenicity midbrain abnormalities hypothalamic abnormalities Microcephaly, seizures, spasticity, and brain calcification, 251280 Tags founder-effect
Green List (high evidence)	PCDH19 Intellectual disability v9.288	5 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Epileptic encephalopathy, early infantile, 9, 300088 EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9 (EIEE9) Tags mosaicism somatic x-linked-over-dominance
Green List (high evidence)	PCDHGC4 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880 Tags
Green List (high evidence)	PCGF2 Intellectual disability v9.288	5 reviews 4 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Intellectual disability dysmorphic features Global developmental delay Abnormality of the cardiovascular system Abnormality of the cerebrum Abnormality of the skeletal system Tags
Green List (high evidence)	PCK1 Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic 261680 Tags
Green List (high evidence)	PCNT Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720 Tags
Green List (high evidence)	PCSK9 Likely inborn error of metabolism v8.92	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypercholesterolemia, familial, 3 603776 {Low density lipoprotein cholesterol level QTL 1} 603776 Tags
Green List (high evidence)	PCYT2 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 82, autosomal recessive, 618770 Global developmental delay Developmental regression Intellectual disability Spastic paraparesis Seizures Spastic tetraparesis Cerebral atrophy Cerebellar atrophy Tags
Green List (high evidence)	PDE4D Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Acrodysostosis 2, with or without hormone resistance, 614613 Acrodysostosis Orphanet:950 Tags
Green List (high evidence)	PDGFRB Intellectual disability v9.288	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Kosaki overgrowth syndrome, 616592 Intellectual disability Tags
Green List (high evidence)	PDHA1 Intellectual disability v9.288	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 Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Pyruvate dehydrogenase E1-alpha deficiency, 312170Leigh syndrome, X-linked, 308930 PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES Tags
Green List (high evidence)	PDHA1 Likely inborn error of metabolism v8.92	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources London North GLH NHS GMS Expert Review Green Phenotypes Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism) Leigh syndrome, X-linked, 308930 Pyruvate dehydrogenase E1-alpha deficiency, 312170 Tags
Green List (high evidence)	PDHB Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111 Tags
Green List (high evidence)	PDHB Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111 Tags
Green List (high evidence)	PDHX Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Lacticacidemia due to PDX1 deficiency, OMIM:245349 Tags deletions
Green List (high evidence)	PDHX Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Lacticacidemia due to PDX1 deficiency, OMIM:245349 Tags
Green List (high evidence)	PDK3 Likely inborn error of metabolism v8.92	6 reviews 2 green 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London North GLH NHS GMS Phenotypes ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905 Tags
Green List (high evidence)	PDP1 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782 Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) Tags
Green List (high evidence)	PDSS1 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 2, 614651 Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis Tags
Green List (high evidence)	PDSS1 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Coenzyme Q10 deficiency, primary, 2, 614651 COENZYME Q10 DEFICIENCY, PRIMARY, 2 Tags
Green List (high evidence)	PDSS2 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Coenzyme Q10 deficiency, primary, 3, 614652 COENZYME Q10 DEFICIENCY, PRIMARY, 3 Tags
Green List (high evidence)	PDSS2 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 3, 614652 Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of ubiquinone metabolism and biosynthesis Tags
Green List (high evidence)	PDZD8 Intellectual disability v9.288	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Global developmental delay Intellectual disability Autistic behavior Behavioral abnormality Myopathy Abnormality of the face Hypertelorism Seizures Disproportionate tall stature Tags
Green List (high evidence)	PEPD Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Prolidase deficiency 170100 Tags
Green List (high evidence)	PEPD Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Prolidase deficiency, 170100 PROLIDASE DEFICIENCY (PD) Tags
Green List (high evidence)	PET100 Likely inborn error of metabolism v8.92	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leigh syndrome Mitochondrial complex IV deficiency, 220110 Isolated complex IV deficiency Tags
Green List (high evidence)	PET100 Intellectual disability v9.288	7 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability Complex IV-deficient Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 12 OMIM:619055 Tags
Green List (high evidence)	PEX1 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 1B (NALD/IRD) 601539 Peroxisome biogenesis disorder 1A (Zellweger) 214100 Tags
Green List (high evidence)	PEX1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 1A (Zellweger), 214100Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1 (PBD-CG1) Tags
Green List (high evidence)	PEX10 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 6A (Zellweger) 614870 Peroxisome biogenesis disorder 6B 614871 Tags
Green List (high evidence)	PEX10 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 6A (Zellweger), 614870Peroxisome biogenesis disorder 6B, 614871 ADRENOLEUKODYSTROPHY NEONATAL (NALD) Tags
Green List (high evidence)	PEX11B Intellectual disability v9.288	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 14B, 614920 Intellectual disability Tags
Green List (high evidence)	PEX11B Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisome biogenesis disorder 14B Tags
Green List (high evidence)	PEX12 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 3A (Zellweger), 614859 Peroxisome biogenesis disorder 3B Tags
Green List (high evidence)	PEX12 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 3A (Zellweger), 614859Peroxisome biogenesis disorder 3B, 266510 ZELLWEGER SYNDROME (ZWS) Tags
Green List (high evidence)	PEX13 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 11A (Zellweger) Tags
Green List (high evidence)	PEX13 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 11A (Zellweger), 614883Peroxisome biogenesis disorder 11B, 614885 ADRENOLEUKODYSTROPHY NEONATAL (NALD) Tags
Green List (high evidence)	PEX14 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 13A (Zellweger) Tags
Green List (high evidence)	PEX14 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ZELLWEGER SYNDROME (ZWS) Tags
Green List (high evidence)	PEX16 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum Peroxisome biogenesis disorder 8A, (Zellweger), 614876 Peroxisomal biogenesis disorders Zellweger Syndrome Tags
Green List (high evidence)	PEX16 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 8A, (Zellweger), 614876Peroxisome biogenesis disorder 8B, 614877 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 (PBD-CG9) Tags
Green List (high evidence)	PEX19 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 12A (Zellweger) Tags
Green List (high evidence)	PEX19 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 12A (Zellweger), 614886 ZELLWEGER SYNDROME (ZWS) Tags
Green List (high evidence)	PEX2 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 5A (Zellweger), 614866 Peroxisome biogenesis disorder 5B, 614867 Tags
Green List (high evidence)	PEX2 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 5A (Zellweger), 614866Peroxisome biogenesis disorder 5B, 614867 ZELLWEGER SYNDROME (ZWS) Tags
Green List (high evidence)	PEX26 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 7A (Zellweger), 614872Peroxisome biogenesis disorder 7B, 614873 INFANTILE REFSUM DISEASE (IRD) Tags
Green List (high evidence)	PEX26 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 7A (Zellweger) 61487 Peroxisome biogenesis disorder 7B 614873 Tags
Green List (high evidence)	PEX3 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 10A (Zellweger), 614882 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12 (PBD-CG12) Tags
Green List (high evidence)	PEX3 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 10A (Zellweger) 614882 Tags
Green List (high evidence)	PEX5 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 2A (Zellweger), 214110Peroxisome biogenesis disorder 2B, 202370 ADRENOLEUKODYSTROPHY NEONATAL (NALD) Tags
Green List (high evidence)	PEX5 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 2A (Zellweger) Tags
Green List (high evidence)	PEX6 Intellectual disability v9.288	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862 Peroxisome biogenesis disorder 4B, OMIM:614863 Tags
Green List (high evidence)	PEX6 Likely inborn error of metabolism v8.92	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Peroxisome biogenesis disorder 4A (Zellweger) OMIM:614862 peroxisome biogenesis disorder 4A (Zellweger) MONDO:0013930 Peroxisome biogenesis disorder 4B OMIM:614863 peroxisome biogenesis disorder 4B MONDO:0013931 Tags
Green List (high evidence)	PEX7 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Peroxisome biogenesis disorder 9B 614879 Rhizomelic chondrodysplasia punctata, type 1 Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders) Tags
Green List (high evidence)	PEX7 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Rhizomelic chondrodysplasia punctata, type 1, 215100 Peroxisome biogenesis disorder 9B, 614879 REFSUM DISEASE (RD) Tags
Green List (high evidence)	PFKM Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen storage disease VII Tags
Green List (high evidence)	PFKM Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Glycogen storage disease VII, 232800 Tags
Green List (high evidence)	PFKM Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glycogen storage disease VII 232800 Tags
Green List (high evidence)	PGAM2 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycogen storage disease X 261670 Tags
Green List (high evidence)	PGAM2 Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Literature UKGTN Phenotypes Glycogen storage disease X 261670 Tags
Green List (high evidence)	PGAP1 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Mental retardation, autosomal recessive 42, 615802 Tags
Green List (high evidence)	PGAP2 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hyperphosphatasia with mental retardation syndrome 3, 614207 INTELLECTUAL DISABILITY Tags
Green List (high evidence)	PGAP2 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperphosphatasia with mental retardation syndrome 3 614207 PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Tags
Green List (high evidence)	PGAP3 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 Tags
Green List (high evidence)	PGAP3 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperphosphatasia with mental retardation syndrome 4 Tags
Green List (high evidence)	PGK1 Likely inborn error of metabolism v8.92	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Phosphoglycerate kinase 1 deficiency Tags
Green List (high evidence)	PGK1 Intellectual disability v9.288	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 Phosphoglycerate kinase 1 deficiency, 300653 PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (PGK1D) Tags
Green List (high evidence)	PGK1 Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Phosphoglycerate kinase 1 deficiency 300653 Tags
Green List (high evidence)	PGM1 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen Storage Disease Congenital disorder of deglycosylation 615273 Glycogen storage disease type XIV (Glycogen storage disorders) Congenital disorder of glycosylation, type It, 614921 Glycogen Storage Disorders- Muscle Glycogen Storage Disease Type XIV Glycogen storage disease XIV, 612934 Tags
Green List (high evidence)	PGM1 Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Literature UKGTN Phenotypes Congenital disorder of glycosylation, type It 614921 Tags
Green List (high evidence)	PGM2L1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 Tags
Green List (high evidence)	PGM3 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Immunodeficiency 23, 615816 Intellectual disability Severe atopy, autoimmunity, bacterial and viral infections, skeletal anomalies dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability cognitive impairment, hypomyelination Tags
Green List (high evidence)	PGM3 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 23 Tags
Green List (high evidence)	PHACTR1 Intellectual disability v9.288	5 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Developmental and epileptic encephalopathy 70, OMIM:618298 Tags
Green List (high evidence)	PHF21A Intellectual disability v9.288	8 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Potocki-Shaffer syndrome, 601224 PSS Intellectual disability Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, 618725 Tags deletions
Green List (high evidence)	PHF6 Intellectual disability v9.288	7 reviews 4 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Borjeson-Forssman-Lehmann syndrome, OMIM:301900 Tags
Green List (high evidence)	PHF8 Intellectual disability v9.288	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 syndrome, X-linked, Siderius type, 300263 MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE (MRXSSD) Tags
Green List (high evidence)	PHGDH Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Neu-Laxova syndrome 1 256520 Phosphoglycerate dehydrogenase deficiency 601815 Tags
Green List (high evidence)	PHGDH Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Phosphoglycerate dehydrogenase deficiency, 601815 NEU-LAXOVA SYNDROME NLS Tags
Green List (high evidence)	PHIP Intellectual disability v9.288	3 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes INTELLECTUAL DISABILITY Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991 Tags
Green List (high evidence)	PHKA1 Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Literature UKGTN Phenotypes Muscle glycogenosis 300559 Tags
Green List (high evidence)	PHKA1 Likely inborn error of metabolism v8.92	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Muscle glycogenosis, 300559 Tags
Green List (high evidence)	PHKA1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Muscle glycogenosis, 300559 Tags
Green List (high evidence)	PHKA2 Likely inborn error of metabolism v8.92	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen Storage Disease Glycogen Storage Disorders- Liver Glycogen storage disease, type IXa2, 306000 Glycogen storage disease, type IXa1, 306000 hepatomegaly and mild hypoglycaemia Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency (Glycogen storage disorders) Tags
Green List (high evidence)	PHKB Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes hepatomegaly and variable myopathy Glycogen Storage Disorders- Liver Glycogen Storage Disorders- Muscle Glycogen Storage Disease Glycogen storage disease type IX Hepatic and muscle phosphorylase kinase deficiency (Glycogen storage disorders) Tags
Green List (high evidence)	PHKG2 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes hepatomegaly and variable myopathy Glycogen Storage Disorders- Liver Glycogen Storage Disease Glycogen storage disease IXc, 613027 Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders) Cirrhosis due to liver phosphorylase kinase deficiency Tags
Green List (high evidence)	PHYH Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Refsum disease, 266500 Refsum disease (Disorders of peroxisomal alpha-, beta and omega-oxidation) Tags
Green List (high evidence)	PI4K2A Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732 Tags
Green List (high evidence)	PI4KA Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 Tags
Green List (high evidence)	PIBF1 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Joubert syndrome 33 OMIM #617767 Tags
Green List (high evidence)	PIDD1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Literature Phenotypes Global developmental delay Intellectual disability Seizures Autism Behavioral abnormality Psychosis Pachygyria Lissencephaly Abnormality of the corpus callosum Tags
Green List (high evidence)	PIEZO2 Congenital myopathy v6.45	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Expert Review Phenotypes Arthrogryposis, distal, type 3, OMIM:114300: Arthrogryposis, distal, type 5, OMIM:108145: Arthrogryposis, distal, with proprioception and touch, OMIM:617146 Tags
Green List (high evidence)	PIGA Likely inborn error of metabolism v8.92	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868 PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Tags Skewed X-inactivation
Green List (high evidence)	PIGA Intellectual disability v9.288	4 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 MCAHS2 Tags Skewed X-inactivation
Green List (high evidence)	PIGB Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 80, OMIM:618580 Tags
Green List (high evidence)	PIGC Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Glycosylphosphatidylinositol biosynthesis defect 16, OMIM:617816 Tags
Green List (high evidence)	PIGG Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Literature Phenotypes Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917 Tags
Green List (high evidence)	PIGH Intellectual disability v9.288	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glycosylphosphatidylinositol biosynthesis defect, 17 OMIM:618010 Hypotonia, moderate developmental delay, and autism, two episodes of febrile seizures Tags Autism Spectrum Disorder
Green List (high evidence)	PIGK Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures OMIM:618879 Tags
Green List (high evidence)	PIGL Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) CHIME syndrome 280000 Tags
Green List (high evidence)	PIGL Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome ZUNICH NEUROECTODERMAL SYNDROME Tags
Green List (high evidence)	PIGM Likely inborn error of metabolism v8.92	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Glycosylphosphatidylinositol deficiency, OMIM:610293 Tags non-coding-known-pathogenic promoter
Green List (high evidence)	PIGN Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME Tags
Green List (high evidence)	PIGN Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes PIGN-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Multiple congenital anomalies-hypotonia-seizures syndrome 1 Tags
Green List (high evidence)	PIGO Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Hyperphosphatasia with mental retardation syndrome 2 614749 Tags
Green List (high evidence)	PIGO Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Hyperphosphatasia with mental retardation syndrome 2, 614749 Hyperphosphatasia with Mental Retardation Syndrome HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 HPMRS2 Tags
Green List (high evidence)	PIGP Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 55, OMIM:617599 Tags
Green List (high evidence)	PIGQ Intellectual disability v9.288	5 reviews 2 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome-4 OMIM:618548 Tags
Green List (high evidence)	PIGS Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Glycosylphosphatidylinositol biosynthesis defect 18 618143 Tags
Green List (high evidence)	PIGS Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Glycosylphosphatidylinositol biosynthesis defect 18 618143 Tags
Green List (high evidence)	PIGT Intellectual disability v9.288	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398 Tags
Green List (high evidence)	PIGT Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 Tags
Green List (high evidence)	PIGU Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590 Tags missense
Green List (high evidence)	PIGV Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Hyperphosphatasia with mental retardation syndrome 1 239300 (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Tags
Green List (high evidence)	PIGV Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Hyperphosphatasia with mental retardation syndrome 1, 239300 Hyperphosphatasia with Mental Retardation Syndrome HYPERPHOSPHATASIA WITH MENTAL RETARDATION (HPMR) Tags
Green List (high evidence)	PIGW Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Hyperphosphatasia with mental retardation syndrome 5 Tags
Green List (high evidence)	PIGW Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Glycosylphosphatidylinositol biosynthesis defect 11, 616025 Tags
Green List (high evidence)	PIK3CA Intellectual disability v9.288	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 Megalencephaly-capillary malformation-polymicrogyria syndrome, Orphanet:60040 Tags mosaicism somatic
Green List (high evidence)	PIK3R2 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387 Tags
Green List (high evidence)	PINK1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Parkinson disease 6, early onset 605909 Tags
Green List (high evidence)	PIP5K1C Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags
Green List (high evidence)	PITRM1 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Expert Review Green Expert Review Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 30, OMIM:619405 Tags gene-checked
Green List (high evidence)	PLA2G6 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Infantile neuroaxonal dystrophy 1, 256600Neurodegeneration with brain iron accumulation 2B, 610217Parkinson disease 14, 612953 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B Tags
Green List (high evidence)	PLA2G6 Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list London North GLH NHS GMS Expert Review Green Phenotypes Infantile neuroaxonal dystrophy 1 Tags
Green List (high evidence)	PLAA Intellectual disability v9.288	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 NDMSBA Epileptic Encephalopathy Tags
Green List (high evidence)	PLCB1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Epileptic encephalopathy, early infantile, 12, 613722 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 Tags
Green List (high evidence)	PLEC Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723 Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670 Tags
Green List (high evidence)	PLEC Congenital muscular dystrophy v6.8	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723 Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670 Tags
Green List (high evidence)	PLEC Congenital myaesthenic syndrome v5.7	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Literature Phenotypes Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670 Tags monogenic-polygenic
Green List (high evidence)	PLEKHG2 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Expert Review Literature Phenotypes Leukodystrophy and acquired microcephaly with or without dystonia, OMIM:616763 leukodystrophy and acquired microcephaly with or without dystonia MONDO:0014766 Tags
Green List (high evidence)	PLK1 Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Epilepsy microcephaly intellectual disability Tags gene-checked
Green List (high evidence)	PLK4 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY Tags
Green List (high evidence)	PLP1 Intellectual disability v9.288	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 Pelizaeus-Merzbacher disease, 312080Spastic paraplegia 2, X-linked, 312920 LEUKODYSTROPHY HYPOMYELINATING TYPE 1 (HLD1) Tags
Green List (high evidence)	PLPBP Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Epilepsy, early-onset, vitamin B6-dependent, 617290 Tags
Green List (high evidence)	PLXNA1 Intellectual disability v9.288	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955 developmental and epileptic encephalopathy, MONDO:0100062 Tags
Green List (high evidence)	PLXNB2 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes amelogenesis imperfecta, MONDO:0019507 sensorineural hearing loss disorder, MONDO:0020678 intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	PMM2 Intellectual disability v9.288	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 Ia, 212065 CONGENITAL DISORDERS OF GLYCOSYLATION Tags
Green List (high evidence)	PMM2 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ia 212065 Tags
Green List (high evidence)	PMPCA Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes slowly progressive cerebellar ataxia non-progressive cerebellar ataxia Tags
Green List (high evidence)	PMPCB Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954 multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 Tags
Green List (high evidence)	PMPCB Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954 multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 Tags
Green List (high evidence)	PNKP Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Epileptic encephalopathy, early infantile, 10, 613402 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 Tags
Green List (high evidence)	PNP Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179 Tags
Green List (high evidence)	PNPLA2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Neutral lipid storage disease with myopathy, OMIM:610717 Tags
Green List (high evidence)	PNPLA2 Rhabdomyolysis and metabolic muscle disorders v5.14	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Neutral lipid storage disease with myopathy, OMIM:610717 Tags
Green List (high evidence)	PNPLA2 Likely inborn error of metabolism v8.92	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Phenotypes Neutral lipid storage disease with myopathy MIM#610717 Tags
Green List (high evidence)	PNPLA6 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Boucher-Neuhauser syndrome, 215470 Oliver-McFarlane syndrome, 275400 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Tags
Green List (high evidence)	PNPLA8 Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 Tags
Green List (high evidence)	PNPO Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Pyridoxamine 5 -oxidase deficiency (Disorders of pyridoxine metabolism) Tags
Green List (high evidence)	PNPT1 Intellectual disability v9.288	7 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Combined oxidative phosphorylation deficiency 13, OMIM:614932 Combined oxidative phosphorylation defect type 13, MONDO:0013977 Tags
Green List (high evidence)	PNPT1 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 13, OMIM:614932 Deafness, autosomal recessive 70, OMIM:614934 Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Green List (high evidence)	POGLUT1 Congenital muscular dystrophy v6.8	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232 autosomal recessive limb-girdle muscular dystrophy type 2R1, MONDO:0014977 Tags
Green List (high evidence)	POGZ Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes White-Sutton syndrome, OMIM:616364 Tags
Green List (high evidence)	POLA1 Intellectual disability v9.288	5 reviews 1 green 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 XLPDR X-Linked Intellectual Disability associated with short stature, microcephaly, and hypogonadism Tags
Green List (high evidence)	POLG Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) Tags
Green List (high evidence)	POLG Likely inborn error of metabolism v8.92	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Progressive external ophthalmoplegia, autosomal dominant, 157640 Progressive external ophthalmoplegia, autosomal recessive, 258450 Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 Mitochondrial DNA depletion syndrome 4A (Alpers type) Mitochondrial DNA Depletion Syndrome Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 Tags
Green List (high evidence)	POLG Rhabdomyolysis and metabolic muscle disorders v5.14	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Literature Phenotypes Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640 Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450 Tags
Green List (high evidence)	POLG2 Likely inborn error of metabolism v8.92	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528 Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 Tags
Green List (high evidence)	POLG2 Rhabdomyolysis and metabolic muscle disorders v5.14	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131 Tags
Green List (high evidence)	POLR1C Intellectual disability v9.288	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Leukodystrophy, hypomyelinating, 11, OMIM:616494 Tags
Green List (high evidence)	POLR2A Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603 Global developmental delay Generalized hypotonia Feeding difficulties Tags
Green List (high evidence)	POLR3A Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropichypogonadism, 607694 LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM Tags
Green List (high evidence)	POLR3B Intellectual disability v9.288	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381 POLR3B-related neurodevelopmental disorder Ataxia, spasticity, and demyelinating neuropathy Tags
Green List (high evidence)	POLRMT Intellectual disability v9.288	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 55, OMIM:619743 Tags
Green List (high evidence)	POMGNT1 Congenital muscular dystrophy v6.8	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, OMIM:253280 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3, OMIM:613151 Tags
Green List (high evidence)	POMGNT1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3 (MDDGB3) Tags
Green List (high evidence)	POMGNT1 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157 Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Retinitis pigmentosa 76 617123 Tags
Green List (high evidence)	POMGNT1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Limb-Girdle Muscular Dystrophy, Recessive Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Limb-girdle muscular dystrophy Tags
Green List (high evidence)	POMGNT2 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green List (high evidence)	POMGNT2 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 Tags
Green List (high evidence)	POMGNT2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	7 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS South West GLH Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 limb girdle muscular dystrophy Tags
Green List (high evidence)	POMGNT2 Congenital muscular dystrophy v6.8	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, OMIM:614830 Tags
Green List (high evidence)	POMK Congenital muscular dystrophy v6.8	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, OMIM:615249 Tags
Green List (high evidence)	POMK Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12 OMIM:616094 limb-girdle muscular dystrophy due to POMK deficiencyMONDO:0014489 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101 Tags
Green List (high evidence)	POMT1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1 (MDDGA1) Tags
Green List (high evidence)	POMT1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Limb-Girdle Muscular Dystrophy, Recessive Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Limb-girdle muscular dystrophy Tags
Green List (high evidence)	POMT1 Congenital muscular dystrophy v6.8	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1, OMIM:613155 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, OMIM:609308 Tags
Green List (high evidence)	POMT1 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308 Protein-O-mannosyltransferase 1 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 Tags
Green List (high evidence)	POMT2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Limb-Girdle Muscular Dystrophy, Recessive Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Limb-girdle muscular dystrophy Tags
Green List (high evidence)	POMT2 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158 Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 Tags
Green List (high evidence)	POMT2 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2 (MDDGB2) Tags
Green List (high evidence)	POMT2 Congenital muscular dystrophy v6.8	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, OMIM:613150 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, OMIM:613156 Tags
Green List (high evidence)	POPDC3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 26, OMIM:618848 muscular dystrophy, limb-girdle, autosomal recessive 26, MONDO:0030014 Tags
Green List (high evidence)	POR Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 Tags
Green List (high evidence)	PORCN Intellectual disability v9.288	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 Focal dermal hypoplasia, 305600 FOCAL DERMAL HYPOPLASIA (FODH) Tags
Green List (high evidence)	POU3F2 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes neurodevelopmental delay with hyperphagic obesity Tags gene-checked
Green List (high evidence)	POU3F3 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Phenotypes Snijders Blok-Fisher syndrome, 618604 Generalized hypotonia Delayed speech and language development Global developmental delay Intellectual disability Autistic behavior Tags
Green List (high evidence)	PPA2 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Sudden cardiac failure, infantile, 617222 Sudden cardiac failure, alcohol-induced, 617223 Tags
Green List (high evidence)	PPFIBP1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 Tags
Green List (high evidence)	PPIL1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly Tags
Green List (high evidence)	PPM1D Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, 617450 IDDGIP Tags
Green List (high evidence)	PPOX Likely inborn error of metabolism v8.92	3 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Variegate porphyria, OMIM:176200 Variegate porphyria, childhood-onset, OMIM:620483 variegate porphyria, MONDO:0008297 variegate porphyria, childhood-onset, MONDO:0957577 Tags Q3_25_MOI
Green List (high evidence)	PPP1CB Intellectual disability v9.288	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Noonan syndrome-like disorder with loose anagen hair 2 617506 Tags
Green List (high evidence)	PPP1R12A Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Genitourinary and/or/brain malformation syndrome, 618820 Tags
Green List (high evidence)	PPP1R15B Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Microcephaly, short stature, and impaired glucose metabolism 2, 616817 Tags
Green List (high evidence)	PPP1R21 Intellectual disability v9.288	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Expert Review Literature Phenotypes Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, OMIM:619383 Tags gene-checked
Green List (high evidence)	PPP1R3F Intellectual disability v9.288	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Green Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	PPP2CA Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Expert Review Green Expert Review Literature Phenotypes Abnormality of nervous system morphology Seizures Language impairment Muscular hypotonia Feeding difficulties Intellectual disability Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354 Global developmental delay Tags
Green List (high evidence)	PPP2R1A Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green List (high evidence)	PPP2R5D Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green List (high evidence)	PPP3CA Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Epileptic encephalopathy, infantile or early childhood, 1, 617711 Tags
Green List (high evidence)	PPT1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 1 Tags
Green List (high evidence)	PPT1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ceroid lipofuscinosis, neuronal, 1, 256730 NEURONAL CEROID LIPOFUSCINOSIS TYPE 1 (CLN1) Tags
Green List (high evidence)	PQBP1 Intellectual disability v9.288	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 Renpenning syndrome, 309500 RENPENNING S(YNDROME 1 (RENS1) Tags
Green List (high evidence)	PRDM13 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes congenital hypogonadotropic hypogonadism, MONDO:0015770 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, OMIM:619761 Tags
Green List (high evidence)	PRICKLE2 Intellectual disability v9.288	5 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Neurodevelopmental disorder global developmental delay Tags gene-checked
Green List (high evidence)	PRKAG2 Likely inborn error of metabolism v8.92	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cardiomyopathy, hypertrophic 6, 600858 Glycogen storage disease of heart, lethal congenital, 261740 Wolff-Parkinson-White syndrome, 194200 Tags
Green List (high evidence)	PRKAG2 Rhabdomyolysis and metabolic muscle disorders v5.14	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources UKGTN Literature Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Cardiomyopathy, hypertrophic 6 600858 Glycogen storage disease of heart, lethal congenital 261740 Wolff-Parkinson-White syndrome 194200 Tags
Green List (high evidence)	PRKAR1B Intellectual disability v9.288	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Marbach-Schaaf neurodevelopmental syndrome, OMIM:619680 Tags
Green List (high evidence)	PRMT7 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Short stature, brachydactyly, intellectual developmental disability, and seizures 617157 Tags
Green List (high evidence)	PRODH Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hyperprolinemia, type I, OMIM:239500 hyperprolinemia type 1, MONDO:0009400 Tags
Green List (high evidence)	PRPF8 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes PRPF8-related developmental disorder (monoallelic) Retinitis pigmentosa 13, OMIM:600059 Tags
Green List (high evidence)	PRPS1 Intellectual disability v9.288	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 Arts syndrome, 301835 Deafness, X-linked 1, 304500 CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5 (CMTX5) Gout, PRPS-related, 300661 Phosphoribosylpyrophosphate synthetase superactivity, 300661 Tags
Green List (high evidence)	PRPS1 Likely inborn error of metabolism v8.92	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Arts syndrome 301835 Charcot-Marie-Tooth disease, X-linked recessive, 5 311070 Deafness, X-linked 1 304500 Gout, PRPS-related 300661 Phosphoribosylpyrophosphate synthetase superactivity 300661 Tags
Green List (high evidence)	PRR12 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Expert Review Green Expert Review Literature Phenotypes Global developmental delay, Intellectual disability, Abnormality of the iris, Abnormality of vision, Behavioral abnormality Abnormality of the iris Behavioral abnormality Intellectual disability Global developmental delay Abnormality of vision Tags
Green List (high evidence)	PRSS12 Intellectual disability v9.288	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Mental retardation, autosomal recessive 1, 249500 Mental Retardation, Recessive MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1 (MRT1) Tags
Green List (high evidence)	PRUNE1 Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies OMIM:617481 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0060490 NMIHBA Complex neurological syndrome Tags
Green List (high evidence)	PSAP Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Atypical Gaucher disease Metachromatic leukodystrophy due to SAP-b deficiency, 249900 Combined SAP deficiency Combined SAP deficiency, 611721 Prosaposin deficiency (Sphingolipidoses) Atypical Krabbe disease Gaucher disease, atypical, 610539 Krabbe disease, atypical, 611722 Tags
Green List (high evidence)	PSAP Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Metachromatic leukodystrophy due to SAP-b deficiency, 249900Gaucher disease, atypical, 610539Combined SAP deficiency, 611721Krabbe disease, atypical, 611722 ATYPICAL KRABBE DISEASE Tags
Green List (high evidence)	PSAT1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes ?Phosphoserine aminotransferase deficiency 610992 Neu-Laxova syndrome 2 616038 Tags
Green List (high evidence)	PSMC3 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354 neurodevelopmental disorder, MONDO:0700092 Tags
Green List (high evidence)	PSMC5 Intellectual disability v9.288	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	PSMD12 Intellectual disability v9.288	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 Stankiewicz-Isidor syndrome, 617516 Syndromic Neurodevelopmental Disorder Tags
Green List (high evidence)	PSPH Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes PHOSPHOSERINE PHOSPHATASE DEFICIENCY Tags
Green List (high evidence)	PTCD3 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes ?Combined oxidative phosphorylation deficiency 51, OMIM:619057 combined oxidative phosphorylation deficiency 51, MONDO:0033631 Tags
Green List (high evidence)	PTCH1 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Holoprosencephaly 7, OMIM:610828 Tags
Green List (high evidence)	PTCHD1 Intellectual disability v9.288	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Emory Genetics Laboratory Phenotypes AUTISM/ID Tags
Green List (high evidence)	PTDSS1 Intellectual disability v9.288	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM Tags
Green List (high evidence)	PTEN Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cowden syndrome 1, 158350Lhermitte-Duclos syndrome, 158350Bannayan-Riley-Ruvalcaba syndrome, 153480{Meningioma}, 607174{Glioma susceptibility 2}, 613028Macrocephaly/autism syndrome, 605309PTEN hamartoma tumor syndromeVATER association with macrocephaly and ventriculomegaly, 276950{Prostate cancer, somatic}, 176807Thyroid carcinoma, follicular, somatic, 188470Malignant melanoma, somatic, 155600Endometrial carcinoma, somatic, 608089Squamous cell carcinoma, head and neck, somatic, 275355 PROTEUS SYNDROME Tags
Green List (high evidence)	PTF1A Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS Tags
Green List (high evidence)	PTPN11 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Noonan syndrome 1, 163950LEOPARD syndrome 1, 151100Leukemia, juvenile myelomonocytic, 607785Metachondromatosis, 156250 LEOPARD SYNDROME TYPE 1 Tags
Green List (high evidence)	PTPN23 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes Developmental epileptic encephalopathy with hypomyelination and brain Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890 atrophy Intellectual disability Severe developmental delay, Tags
Green List (high evidence)	PTPN4 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	PTRHD1 Intellectual disability v9.288	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Radboud University Medical Center, Nijmegen Literature Phenotypes Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, OMIM:620747 Tags
Green List (high evidence)	PTS Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism) Hyperphenylalaninemia, BH4-deficient, A 261640 Tags
Green List (high evidence)	PTS Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY Tags
Green List (high evidence)	PUF60 Intellectual disability v9.288	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Phenotypes Syndromic intellectual disability Verheij syndrome, 615583 VRJS Chromosome 8q24.3 deletion syndrome PUF60 syndrome Intellectual disability Tags microdeletion
Green List (high evidence)	PUM1 Intellectual disability v9.288	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Phenotypes Spinocerebellar ataxia 47 617931 Tags
Green List (high evidence)	PURA Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green List (high evidence)	PUS1 Intellectual disability v9.288	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 Mitochondrial myopathy and sideroblastic anemia 1 MLASA Intellectual disability Tags
Green List (high evidence)	PUS1 Likely inborn error of metabolism v8.92	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial myopathy and sideroblastic anemia 1, 600462 Tags
Green List (high evidence)	PUS3 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Expert Review Radboud University Medical Center, Nijmegen Literature Phenotypes Neurodevelopmental disorder with microcephaly and gray sclerae, OMIM:617051 Tags
Green List (high evidence)	PUS7 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Expert Review Literature Phenotypes Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, 618342 Short stature Microcephaly Intellectual disability Behavioral abnormality Tags
Green List (high evidence)	PYCR1 Likely inborn error of metabolism v8.92	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cutis laxa, autosomal recessive, type IIB, 612940 Cutis laxa, autosomal recessive, type IIb/IIIb (Disorders of ornithine or proline metabolism) Cutis laxa, autosomal recessive, type IIIB, 614438 Tags
Green List (high evidence)	PYCR1 Intellectual disability v9.288	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cutis laxa, autosomal recessive, type IIB, 612940 ARCL2B Intellectual disability Tags
Green List (high evidence)	PYCR2 Intellectual disability v9.288	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 10, 616420 intellectual disability Postnatal microcephaly, hypomyelination, and reduced cerebral white-matter volume Tags
Green List (high evidence)	PYGL Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen Storage Disease Glycogen Storage Disorders- Liver Glycogen storage disease VI, 232700 hepatomegaly and mild hypoglycaemia Glycogen Storage Disease Type VI Glycogen storage disease type VI, Hers (Glycogen storage disorders) Tags
Green List (high evidence)	PYGM Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Glycogen storage disease V McArdle disease 232600 AR Tags
Green List (high evidence)	PYGM Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes McArdle disease, 232600 Tags
Green List (high evidence)	PYGM Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen storage disease type V, McArdle (Glycogen storage disorders) McArdle disease 232600 Tags
Green List (high evidence)	PYROXD1 Congenital muscular dystrophy v6.8	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes muscular dystrophy Tags
Green List (high evidence)	PYROXD1 Congenital myopathy v6.45	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Myopathy, myofibrillar, 8, OMIM:617258 Tags
Green List (high evidence)	PYROXD1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Myopathy, myofibrillar, 8, 617258 adult-onset limb girdle muscular dystrophy Tags
Green List (high evidence)	QARS Intellectual disability v9.288	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 Intellectual disability Tags new-gene-name
Green List (high evidence)	QDPR Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperphenylalaninemia, BH4-deficient, C Tags
Green List (high evidence)	QDPR Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes BH4-DEFICIENT HYPERPHENYLALANINEMIA C Tags
Green List (high evidence)	QRICH1 Intellectual disability v9.288	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 Ververi-Brady syndrome, 617982 Intellectual disability Tags
Green List (high evidence)	QRSL1 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 40, OMIM:618835 Tags
Green List (high evidence)	RAB11A Intellectual disability v9.288	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Expert Review Expert Review Literature Phenotypes Global developmental delay, HP:0001263 Intellectual disability, HP:0001249 Tags gene-checked
Green List (high evidence)	RAB11B Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807 Tags
Green List (high evidence)	RAB18 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Warburg micro syndrome 3, 614222 WARBURG MICRO SYNDROME TYPE 3 Tags
Green List (high evidence)	RAB23 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ACROCEPHALOPOLYSYNDACTYLY TYPE 2 Tags
Green List (high evidence)	RAB39B Intellectual disability v9.288	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Intellectual developmental disorder, X-linked 72, OMIM:300271 Waisman syndrome, OMIM:311510 Tags
Green List (high evidence)	RAB3GAP1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Warburg micro syndrome 1, 600118 WARBURG MICRO SYNDROME TYPE 1 Tags
Green List (high evidence)	RAB3GAP2 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Martsolf syndrome 1, OMIM:212720 Warburg micro syndrome 2, OMIM:614225 Tags
Green List (high evidence)	RAB5C Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, RAB5C-related Tags gene-checked
Green List (high evidence)	RAC1 Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Literature Expert Review Green Phenotypes intellectual disability developmental delay Tags
Green List (high evidence)	RAC3 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, OMIM:618577 Tags
Green List (high evidence)	RAD21 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cornelia de Lange syndrome 4, OMIM:614701 Tags
Green List (high evidence)	RAF1 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Noonan syndrome 5, 611553LEOPARD syndrome 2, 611554 NOONAN SYNDROME 5 Tags
Green List (high evidence)	RAI1 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Immunodeficiency 9, 612782 SMITH-MAGENIS SYNDROME (SMS) Tags
Green List (high evidence)	RALA Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Expert Review Literature Phenotypes Global developmental delay Seizures Abnormality of nervous system morphology Global developmental delay, Intellectual disability, Seizures, Abnormality of nervous system morphology Intellectual disability Tags
Green List (high evidence)	RALGAPA1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 618797 Tags
Green List (high evidence)	RAP1B Intellectual disability v9.288	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654 Syndromic intellectual disability Tags
Green List (high evidence)	RAPSN Congenital myaesthenic syndrome v5.7	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326 Tags
Green List (high evidence)	RARB Intellectual disability v9.288	6 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Microphthalmia, syndromic 12, OMIM:615524 neurodevelopmental disorder, MONDO:0700092 Tags
Green List (high evidence)	RARS Intellectual disability v9.288	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 9, OMIM:616140 Tags new-gene-name
Green List (high evidence)	RARS2 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Pontocerebellar hypoplasia, type 6, 611523 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	RARS2 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Pontocerebellar hypoplasia, type 6, 611523 PONTOCEREBELLAR HYPOPLASIA TYPE 6 Tags
Green List (high evidence)	RBBP5 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	RBBP8 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes Jawad syndrome, 251255 Microcephaly with mental retardation and digital anomalies Seckel syndrome, 24389050 growth retardation, microcephaly with mental retardation, and a characteristic facial appearance Tags
Green List (high evidence)	RBCK1 Rhabdomyolysis and metabolic muscle disorders v5.14	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert Review UKGTN Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 Tags
Green List (high evidence)	RBCK1 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 Tags
Green List (high evidence)	RBL2 Intellectual disability v9.288	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Brunet-Wagner neurodevelopmental syndrome, OMIM:619690 Tags
Green List (high evidence)	RBM10 Intellectual disability v9.288	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 TARP syndrome, 311900 TARP SYNDROME Tags
Green List (high evidence)	RBP4 Likely inborn error of metabolism v8.92	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Retinol binding protein deficiency (Other disorders of vitamins and cofactors) Posterior segment abnormalities Tags
Green List (high evidence)	RBSN Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Kariminejad-Reversade neurodevelopmental syndrome, OMIM:620937 Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities, OMIM:620939 Tags
Green List (high evidence)	RELN Intellectual disability v9.288	6 reviews 6 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Lissencephaly 2 (Norman-Roberts type), OMIM:257320 neurodevelopmental disorder, MONDO:0700092 Tags
Green List (high evidence)	RERE Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 616975 Tags
Green List (high evidence)	RFC4 Congenital myopathy v6.45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes congenital myopathy, MONDO:0019952 Tags
Green List (high evidence)	RFT1 Intellectual disability v9.288	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Congenital disorder of glycosylation, type In, 612015 CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1N Tags
Green List (high evidence)	RFT1 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type In 612015 Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation) Tags
Green List (high evidence)	RFX3 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability, MONDO:0001071 Autism spectrum disorder, MONDO:0005258 Attention deficit-hyperactivity disorder, MONDO:0007743 Tags gene-checked
Green List (high evidence)	RFX4 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability, MONDO:0001071 Autism spectrum disorder, MONDO:0005258 Tags gene-checked
Green List (high evidence)	RFX7 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities, OMIM:620330 Tags
Green List (high evidence)	RHOBTB2 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Expert Review Phenotypes Epileptic encephalopathy, early infantile, 64, 618004 Global developmental delay Intellectual disability Seizures Postnatal microcephaly Tags
Green List (high evidence)	RIT1 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Noonan syndrome 8, 615355 NOONAN SYNDROME 8 Tags
Green List (high evidence)	RLIM Intellectual disability v9.288	4 reviews 1 green 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Phenotypes Mental retardation, X-linked 61, 300978 Intellectual disability Tags missense
Green List (high evidence)	RMND1 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 11, 614922 Encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect Tags
Green List (high evidence)	RMND1 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Combined oxidative phosphorylation deficiency 11, 614922 ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT Tags
Green List (high evidence)	RNASEH1 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 Tags
Green List (high evidence)	RNASEH2A Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Aicardi-Goutieres syndrome 4, 610333 AICARDI-GOUTIERES SYNDROME 4 Tags
Green List (high evidence)	RNASEH2A Likely inborn error of metabolism v8.92	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Intracerebral calcification disorders (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS4 Inherited white matter disorders Tags
Green List (high evidence)	RNASEH2B Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181 Tags
Green List (high evidence)	RNASEH2B Likely inborn error of metabolism v8.92	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181 Tags
Green List (high evidence)	RNASEH2C Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Aicardi-Goutieres syndrome 3, 610329 AICARDI-GOUTIERES SYNDROME 3 Tags
Green List (high evidence)	RNASEH2C Likely inborn error of metabolism v8.92	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS3 Intracerebral calcification disorders Inherited white matter disorders Tags
Green List (high evidence)	RNASET2 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukoencephalopathy, cystic, without megalencephaly, 612951 LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY Tags
Green List (high evidence)	RNF113A Intellectual disability v9.288	6 reviews 1 green 3 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 Phenotypes Trichothiodystrophy 5, nonphotosensitive, OMIM:300953 Tags Skewed X-inactivation
Green List (high evidence)	RNF125 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes Tenorio syndrome, 616260 Intellectual disability Tags
Green List (high evidence)	RNF13 Intellectual disability v9.288	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Expert Review Literature Phenotypes Developmental and epileptic encephalopathy 73, OMIM:618379 Tags
Green List (high evidence)	RNU4-2 Intellectual disability v9.288	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes ReNU syndrome, OMIM:620851 Tags gene-checked locus-type-rna-small-nuclear
Green List (high evidence)	RNU7-1 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aicardi–Goutières syndrome-like Type I interferonopathy Tags gene-checked locus-type-rna-small-nuclear
Green List (high evidence)	ROBO1 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Intellectual disability, MONDO:0001071 Neurooculorenal syndrome, OMIM:620305 Tags watchlist_moi
Green List (high evidence)	ROGDI Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Kohlschutter-Tonz syndrome, 226750 KOHLSCH TTER-T _NZ SYNDROME Tags
Green List (high evidence)	RORA Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 Tags
Green List (high evidence)	RPGRIP1L Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Joubert syndrome 7, 611560Meckel syndrome 5, 611561COACH syndrome, 216360 COACH SYNDROME (COACHS) Tags
Green List (high evidence)	RPIA Likely inborn error of metabolism v8.92	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Expert Review Green Phenotypes Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism) Ribose 5-phosphate isomerase deficiency, OMIM:608611 Tags
Green List (high evidence)	RPIA Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Expert Review Green Expert Review Literature Phenotypes Ribose 5-phosphate isomerase deficiency, OMIM:608611 Tags
Green List (high evidence)	RPL10 Intellectual disability v9.288	6 reviews 3 green 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green Emory Genetics Laboratory Phenotypes Intellectual developmental disorder, X-linked syndromic 35, OMIM:300998 Tags
Green List (high evidence)	RPL10 Likely inborn error of metabolism v8.92	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Mental retardation, X-linked, syndromic, 35 Tags
Green List (high evidence)	RPS6KA3 Intellectual disability v9.288	5 reviews 4 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Coffin-Lowry syndrome, OMIM:303600 Intellectual developmental disorder, X-linked 19, OMIM:300844 Tags
Green List (high evidence)	RRM2B Rhabdomyolysis and metabolic muscle disorders v5.14	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Literature Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 613077 Tags
Green List (high evidence)	RRM2B Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 Mitochondrial depletion syndrome Intellectual disability Tags
Green List (high evidence)	RRM2B Likely inborn error of metabolism v8.92	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 Mitochondrial DNA Depletion Syndrome (recessive) Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism) Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant) Disorders of mitochondrial DNA maintenance and integrity Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 Tags
Green List (high evidence)	RSRC1 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Intellectual developmental disorder, autosomal recessive 70 618402 Tags
Green List (high evidence)	RTEL1 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 Tags
Green List (high evidence)	RTN4IP1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Optic atrophy 10, with or without ataxia, mental retardation, and seizures Tags
Green List (high evidence)	RTN4IP1 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732 Tags
Green List (high evidence)	RTTN Intellectual disability v9.288	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Phenotypes Microcephaly, short stature, and polymicrogyria with seizures, 614833 Intellectual disability Tags
Green List (high evidence)	RYR1 Rhabdomyolysis and metabolic muscle disorders v5.14	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes {Malignant hyperthermia susceptibility 1}, 145600 Central core disease, 117000 Minicore myopathy with external ophthalmoplegia, 255320 Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 King-Denborough syndrome, 145600 Tags
Green List (high evidence)	RYR1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 Central core disease, 117000 congenital myopathy malignant hyperthermia Tags
Green List (high evidence)	RYR1 Congenital myopathy v6.45	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Phenotypes Central core disease, OMIM:117000 Neuromuscular disease, congenital, with uniform type 1 fiber, OMIM:117000 Minicore myopathy with external ophthalmoplegia, OMIM:255320 King-Denborough syndrome, OMIM:619542 Tags pharmacogenetics treatable
Green List (high evidence)	RYR3 Congenital myopathy v6.45	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Phenotypes Congenital myopathy 20, OMIM:620310 Nemaline myopathy, MONDO:0018958 Tags
Green List (high evidence)	SACS Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spastic ataxia, Charlevoix-Saguenay type Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) Tags
Green List (high evidence)	SAMD9 Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes MIRAGE syndrome, 617053 Tags missense
Green List (high evidence)	SAMHD1 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes AICARDI-GOUTIERES SYNDROME Tags
Green List (high evidence)	SAMHD1 Likely inborn error of metabolism v8.92	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes (Disorders of nucleotide metabolism, Aicardi-Goutieres Syndrome) AGS5 Aicardi-Goutieres syndrome-5 (AGS5) Aicardi-Goutieres syndrome 5, 612952 Tags
Green List (high evidence)	SAR1B Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Anderson disease (Inherited hypolipidaemias) CHYLOMICRON RETENTION DISEASE 246700 Tags
Green List (high evidence)	SARS Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 Tags new-gene-name
Green List (high evidence)	SARS2 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845 Tags
Green List (high evidence)	SARS2 Likely inborn error of metabolism v8.92	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) Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 Tags
Green List (high evidence)	SATB1 Intellectual disability v9.288	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes intellectual disability developmental disorders Tags
Green List (high evidence)	SATB2 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cleft palate and mental retardation, 119540 CLEFT PALATE ISOLATED (CPI) Tags
Green List (high evidence)	SBF1 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Charcot-Marie-Tooth disease, type 4B3 615284 Tags
Green List (high evidence)	SC5D Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Lathosterolosis, 607330 Intellectual disability Cataracts Tags
Green List (high evidence)	SC5D Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Lathosterolosis, 607330 LATHOSTEROLOSIS (LATHST) Tags
Green List (high evidence)	SCAF4 Intellectual disability v9.288	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes Fliedner-Zweier syndrome, OMIM:620511 Tags
Green List (high evidence)	SCAMP5 Intellectual disability v9.288	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Global developmental delay Intellectual disability Seizures Abnormality of nervous system morphology Behavioral abnormality Tags gene-checked
Green List (high evidence)	SCAPER Intellectual disability v9.288	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Intellectual developmental disorder and retinitis pigmentosa, 618195 Tags
Green List (high evidence)	SCN1A Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Epilepsy, generalized, with febrile seizures plus, type 2, 604403Dravet syndrome, 607208Migraine, familial hemiplegic, 3, 609634Febrile seizures, familial, 3A, 604403 SCN1A-RELATED SEIZURE DISORDERS Tags
Green List (high evidence)	SCN2A Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Seizures, benign familial infantile, 3, 607745Epileptic encephalopathy, early infantile, 11, 613721 NONSPECIFIC SEVERE ID Tags
Green List (high evidence)	SCN3A Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 62, 617938 intellectual disability Tags
Green List (high evidence)	SCN4A Congenital myaesthenic syndrome v5.7	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Myasthenic syndrome, congenital, 16, OMIM:614198 Tags
Green List (high evidence)	SCN4A Congenital myopathy v6.45	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes Congenital myopathy, MONDO:0019952 Tags
Green List (high evidence)	SCN4A Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes SCN4A-related muscle disorders Tags
Green List (high evidence)	SCN8A Intellectual disability v9.288	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cognitive impairment with or without cerebellar ataxia, OMIM:614306 Developmental and epileptic encephalopathy 13, OMIM:614558 Tags
Green List (high evidence)	SCO1 Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 Tags
Green List (high evidence)	SCO2 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 Myopia 6, 608908 FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY Tags
Green List (high evidence)	SCO2 Likely inborn error of metabolism v8.92	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) Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 Myopia 6, 608908 Tags
Green List (high evidence)	SCP2 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Sterol carrier protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) Tags
Green List (high evidence)	SCYL1 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 21 OMIM:616719 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0014744 Tags
Green List (high evidence)	SDCCAG8 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Senior-Loken syndrome 7, 613615 Bardet-Biedl syndrome 16, 615993 Intellectual disability Tags
Green List (high evidence)	SDHA Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leigh syndrome, 256000Mitochondrial respiratory chain complex II deficiency, 252011Cardiomyopathy, dilated, 1GG, 613642Paragangliomas 5, 614165 LEIGH SYNDROME (NUCLEAR DNA MUTATION) Tags
Green List (high evidence)	SDHA Likely inborn error of metabolism v8.92	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011 Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259 Cardiomyopathy, dilated, 1GG, OMIM:613642 Tags
Green List (high evidence)	SDHAF1 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial Diseases Mitochondrial complex II deficiency, 252011 Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial Respiratory Chain Complex II Deficiency Isolated complex II deficiency Tags
Green List (high evidence)	SDHAF1 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX II DEFICIENCY Tags
Green List (high evidence)	SDHB Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224 Tags
Green List (high evidence)	SDHD Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Mitochondrial Diseases Isolated complex II deficiency Tags
Green List (high evidence)	SEC23B Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dyserythropoietic anemia, congenital, type II, OMIM:224100 COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) Tags
Green List (high evidence)	SELENON Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Muscular dystrophy, rigid spine, 1, OMIM:602771 Tags
Green List (high evidence)	SELENON Congenital muscular dystrophy v6.8	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Muscular dystrophy, rigid spine, 1, 602771 Tags
Green List (high evidence)	SELENON Congenital myopathy v6.45	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy, rigid spine, 1, OMIM:602771 Tags
Green List (high evidence)	SEMA6B Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Intellectual disability, MONDO:0001071 Tags
Green List (high evidence)	SEPHS1 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 Tags gene-checked
Green List (high evidence)	SEPSECS Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Pontocerebellar hypoplasia type 2D, 613811 Tags
Green List (high evidence)	SERAC1 Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Green List (high evidence)	SERAC1 Intellectual disability v9.288	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 Tags
Green List (high evidence)	SET Intellectual disability v9.288	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Intellectual disability SET syndrome Mental retardation, autosomal dominant 58, 618106 Tags
Green List (high evidence)	SETBP1 Intellectual disability v9.288	5 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Intellectual developmental disorder, autosomal dominant 29, OMIM: 616078 Schinzel-Giedion midface retraction syndrome, OMIM: 269150 Schinzel-Giedion syndrome, MONDO:0010010 Tags
Green List (high evidence)	SETD1A Intellectual disability v9.288	5 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Neurodevelopmental disorder with speech impairment and dysmorphic facies, 619056 Epilepsy, early-onset, with or without developmental delay, 618832 Tags
Green List (high evidence)	SETD1B Intellectual disability v9.288	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Intellectual developmental disorder with seizures and language delay, OMIM:619000 Intellectual developmental disorder with seizures and language delay, MONDO:0033559 Tags
Green List (high evidence)	SETD2 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes Luscan-Lumish syndrome, 616831 intellectual disability Tags de novo
Green List (high evidence)	SETD5 Intellectual disability v9.288	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 Tags
Green List (high evidence)	SETX Likely inborn error of metabolism v8.92	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002 Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433 Tags
Green List (high evidence)	SFXN4 Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 18, 615578 Tags
Green List (high evidence)	SFXN4 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Combined oxidative phosphorylation deficiency 18 615578 Tags
Green List (high evidence)	SGCA Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099 Tags
Green List (high evidence)	SGCA Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Muscular dystrophy, limb-girdle, type 2D, 608099 Limb-girdle muscular dystrophy Tags
Green List (high evidence)	SGCB Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Limb-Girdle Muscular Dystrophy, Recessive Muscular dystrophy, limb-girdle, type 2E, 604286 Limb-girdle muscular dystrophy Tags
Green List (high evidence)	SGCD Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Limb-Girdle Muscular Dystrophy, Recessive Muscular dystrophy, limb-girdle, type 2F, 601287 Limb-girdle muscular dystrophy Tags
Green List (high evidence)	SGCG Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Limb-Girdle Muscular Dystrophy, Recessive Muscular dystrophy, limb-girdle, type 2C, 253700 Limb-girdle muscular dystrophy Tags
Green List (high evidence)	SGPL1 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome 14 617575 Tags
Green List (high evidence)	SGSH Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mucopolysaccharidosis Type III Mucopolysaccharidosis, Type III Mucopolysaccharidosis Type IIIA MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses) MUCOPOLYSACCHARIDOSIS TYPE 3A Tags
Green List (high evidence)	SGSH Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 3A (MPS3A) Tags
Green List (high evidence)	SHANK1 Intellectual disability v9.288	8 reviews 5 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	SHANK2 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes SUSCEPTIBILITY TO AUTISM TYPE 17 (AUTS17) Tags
Green List (high evidence)	SHANK3 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Phelan-McDermid syndrome, 606232{Schizophrenia 15}, 613950 PHELAN-MCDERMID SYNDROME Tags
Green List (high evidence)	SHH Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Holoprosencephaly-3, 142945Single median maxillary central incisor, 147250Microphthalmia with coloboma 5, 611638Schizencephaly, 269160 TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME (TPTPS) Tags
Green List (high evidence)	SHMT2 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121 Tags
Green List (high evidence)	SHMT2 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121 Tags
Green List (high evidence)	SHOC2 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Noonan-like syndrome with loose anagen hair, 607721 NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR Tags
Green List (high evidence)	SHQ1 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes ?Dystonia 35, childhood-onset, OMIM:619921 dystonia 35, childhood-onset, MONDO:0030958 Neurodevelopmental disorder with dystonia and seizures, OMIM:619922 neurodevelopmental disorder with dystonia and seizures, MONDO:0859258 Tags
Green List (high evidence)	SI Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900 Disaccharide intolerance 1 (Other carbohydrate disorders) Tags
Green List (high evidence)	SIAH1 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Developmental delay Infantile hypotonia Dysmorphic features Laryngomalacia Tags
Green List (high evidence)	SIK1 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes NEONATAL EPILEPSY SPECTRUM Tags
Green List (high evidence)	SIL1 Congenital muscular dystrophy v6.8	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Phenotypes Marinesco-Sjogren syndrome, OMIM:248800 Tags
Green List (high evidence)	SIL1 Rhabdomyolysis and metabolic muscle disorders v5.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Marinesco-Sjogren syndrome 248800 Tags
Green List (high evidence)	SIL1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Marinesco-Sjogren syndrome, 248800 MARINESCO-SJOEGREN SYNDROME (MSS) Tags
Green List (high evidence)	SIN3A Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Witteveen-Kolk syndrome, 613406 Syndromic intellectual disability Tags
Green List (high evidence)	SIN3B Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Syndromic intellectual disability Tags gene-checked
Green List (high evidence)	SIX3 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Holoprosencephaly-2, 157170 Schizensephaly, 269160 HOLOPROSENCEPHALY Tags
Green List (high evidence)	SKI Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Shprintzen-Goldberg syndrome, 182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME SGS Tags
Green List (high evidence)	SKIV2L Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Infantile enterocolitis & monogenic inflammatory bowel disease Trichohepatoenteric syndrome 2 (Other metabolic disorders) Tags new-gene-name
Green List (high evidence)	SLC12A2 Intellectual disability v9.288	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Kilquist syndrome deafness intellectual disability dysmorphic features absent salivation ectodermal dysplasia constipation intestinal malrotation multiple congenital anomalies Tags
Green List (high evidence)	SLC12A3 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Gitelman syndrome, OMIM: 263800 Gitelman syndrome, MONDO:0009904 Tags monogenic-polygenic
Green List (high evidence)	SLC12A5 Intellectual disability v9.288	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Developmental and epileptic encephalopathy 34, OMIM 616645 Tags
Green List (high evidence)	SLC12A6 Intellectual disability v9.288	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000 Tags
Green List (high evidence)	SLC13A3 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384 Tags
Green List (high evidence)	SLC13A5 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE Tags
Green List (high evidence)	SLC16A1 Likely inborn error of metabolism v8.92	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Erythrocyte lactate transporter defect, OMIM:245340 Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021 Monocarboxylate transporter 1 deficiency, OMIM:616095 Tags
Green List (high evidence)	SLC16A2 Intellectual disability v9.288	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 Allan-Herndon-Dudley syndrome, OMIM:300523 Tags
Green List (high evidence)	SLC17A5 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Salla disease, OMIM:604369 Sialic acid storage disorder, infantile, OMIM:269920 Tags
Green List (high evidence)	SLC17A5 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Salla disease, OMIM:604369 Sialic acid storage disorder, infantile, OMIM:269920 Tags
Green List (high evidence)	SLC18A2 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism) Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism) (NO phenotype number in OMIM) Tags
Green List (high evidence)	SLC18A3 Congenital myaesthenic syndrome v5.7	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Eligibility statement prior genetic testing Phenotypes Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239 Tags
Green List (high evidence)	SLC19A2 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270 Thiamine-responsive megaloblastic anemia syndrome (Disorders of thiamine metabolism) Tags
Green List (high evidence)	SLC19A3 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE ENCEPHALOPATHY TYPE 2) Tags
Green List (high evidence)	SLC19A3 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Biotin-responsive basal ganglia disease (Disorders of thiamine metabolism) Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483 Tags
Green List (high evidence)	SLC1A1 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Dicarboxylic aminoaciduria 222730 Tags
Green List (high evidence)	SLC1A2 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Phenotypes Epileptic encephalopathy, early infantile, 41, OMIM:617105 developmental and epileptic encephalopathy, 41, MONDO:0014916 Tags
Green List (high evidence)	SLC1A4 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 Intellectual disability Tags
Green List (high evidence)	SLC22A5 Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919 Tags
Green List (high evidence)	SLC22A5 Rhabdomyolysis and metabolic muscle disorders v5.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Literature UKGTN Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919 Tags
Green List (high evidence)	SLC25A1 Likely inborn error of metabolism v8.92	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 Disorders of mitochondrial protein transport Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) Tags
Green List (high evidence)	SLC25A1 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria 615182 Tags
Green List (high evidence)	SLC25A1 Congenital myaesthenic syndrome v5.7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Myasthenic syndrome, congenital, 23, presynaptic, OMIM:618197 Tags
Green List (high evidence)	SLC25A12 Likely inborn error of metabolism v8.92	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Inherited white matter disorders Epileptic encephalopathy, early infantile, 39 612949 Hypomyelination, global cerebral, 612949 Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	SLC25A12 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Epileptic encephalopathy, early infantile, 39,612949 Hypomyelination, global cerebral Epileptic encephalopathy with global cerebral demyelination Delayed psychomotor development Tags
Green List (high evidence)	SLC25A13 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Citrullinemia, adult-onset type II 603471 Citrullinemia, adult-onset type II, 603471Citrullinemia, type II, neonatal-onset, 605814 Citrullinemia Type 2 (Urea cycle disorders and inherited hyperammonaemias) Tags
Green List (high evidence)	SLC25A15 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970 HHH syndrome (Urea cycle disorders and inherited hyperammonaemias) Tags
Green List (high evidence)	SLC25A15 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970 Tags
Green List (high evidence)	SLC25A19 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Microcephaly, Amish type, 607196 Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 Microcephaly, Amish type (Disorders of thiamine metabolism) Tags
Green List (high evidence)	SLC25A20 Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Carnitine-acylcarnitine translocase deficiency 212138 Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle) Tags
Green List (high evidence)	SLC25A22 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Epileptic encephalopathy, early infantile, 3, 609304 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 Tags
Green List (high evidence)	SLC25A22 Likely inborn error of metabolism v8.92	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 3, 609304 Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	SLC25A26 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 28 intra-mitochondrial methylation deficiency. Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness Tags
Green List (high evidence)	SLC25A3 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial phosphate carrier deficiency, 610773 Mitochondrial phosphate carrier deficiency 610773 Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) Tags
Green List (high evidence)	SLC25A32 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes ?Exercise intolerance, riboflavin-responsive Tags gene-checked
Green List (high evidence)	SLC25A38 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes severe, non-syndromic, microcytic/hypochromic sideroblastic anemia Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) nonsyndromic autosomal recessive congenital sideroblastic anemia congenital sideroblastic anemias Tags
Green List (high evidence)	SLC25A4 Congenital myopathy v6.45	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM:617184 Tags
Green List (high evidence)	SLC25A4 Likely inborn error of metabolism v8.92	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Progressive External Ophthalmoplegia with Mitochondrial DNADeletions Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of mitochondrial DNA maintenance and integrity Disorders of mitochondrial protein transport Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283 Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 Tags
Green List (high evidence)	SLC25A42 Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416 mitochondrial myopathy Tags
Green List (high evidence)	SLC25A46 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes optic atrophy spectrum disorder Tags
Green List (high evidence)	SLC2A1 Likely inborn error of metabolism v8.92	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Early onset dystonia Cataracts Glucose transporter 1 deficiency (blood-brain barrier) (Disorders of glucose transport) Hereditary ataxia Epileptic encephalopathy Familial Genetic Generalised Epilepsies GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 GLUT1 deficiency syndrome 2, childhood onset, 612126 Tags
Green List (high evidence)	SLC2A1 Intellectual disability v9.288	7 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes GLUT1 deficiency syndrome 1, 606777 GLUT1 deficiency syndrome 2, 612126 {Epilepsy, idiopathic generalized, suscpetibility to, 12}, 614847 Dystonia 9, 601042 GLUT1 DEFICIENCY SYNDROME TYPE 1 (GLUT1DS1) Tags
Green List (high evidence)	SLC2A2 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen storage disease type XI (Glycogen storage disorders) Glycogen Storage Disorders- Liver Glucose transporter 2 deficiency (Disorders of glucose transport) Fanconi-Bickel Syndrome renal falcon syndrome, aminoaciduria phosphaturia, small stature, malabsorption, hepatomegaly and nephromegaly. Tags
Green List (high evidence)	SLC30A10 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hypermanganesemia with dystonia 1, OMIM:613280 Tags
Green List (high evidence)	SLC30A9 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Birk-Landau-Perez syndrome, OMIM:617595 Tags
Green List (high evidence)	SLC32A1 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Developmental and epileptic encephalopathy 114, OMIM:620774 Tags
Green List (high evidence)	SLC33A1 Intellectual disability v9.288	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Congenital cataracts, hearing loss, and neurodegeneration, 614482 Tags
Green List (high evidence)	SLC35A1 Intellectual disability v9.288	7 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIf, 603585 intellectual disability, ataxia, seizures, bleeding diathesis and proteinuria Tags
Green List (high evidence)	SLC35A1 Likely inborn error of metabolism v8.92	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Congenital disorder of glycosylation, type IIf 603585 Congenital disorder of glycosylation, type Iif, 603585 CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Tags
Green List (high evidence)	SLC35A2 Intellectual disability v9.288	5 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 Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION Tags
Green List (high evidence)	SLC35A2 Likely inborn error of metabolism v8.92	3 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Congenital disorder of glycosylation, type IIm 300896 SLC35A2-CDG (other congenital disorders of glycosylation) Tags
Green List (high evidence)	SLC35C1 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Congenital disorder of glycosylation, type IIc 266265 Tags
Green List (high evidence)	SLC35C1 Intellectual disability v9.288	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 IIc, 266265 CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C (CDG2C) Tags
Green List (high evidence)	SLC35D1 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) Tags
Green List (high evidence)	SLC37A4 Likely inborn error of metabolism v8.92	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen storage disease Ib, OMIM:232220 Glycogen storage disease Ic, OMIM:232240 Congenital disorder of glycosylation, type IIw, OMIM:619525 Tags
Green List (high evidence)	SLC38A3 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Literature Phenotypes Developmental and epileptic encephalopathy 102, 619881 Tags
Green List (high evidence)	SLC39A14 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Phenotypes Hypermanganesemia with dystonia 2 617013 Tags
Green List (high evidence)	SLC39A14 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypermanganesemia with dystonia 2 Tags
Green List (high evidence)	SLC39A4 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Acrodermatitis enteropathica (Disorder of zinc metabolism) Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism) Tags
Green List (high evidence)	SLC39A8 Likely inborn error of metabolism v8.92	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list London North GLH NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIn 616721 Hypomagnesaemia with cerebellar atrophy, hypotonia, strabismus, developmental delay, short stature, mild skeletal dysplasia, and connective tissue abnormalities (Disorder of magnesium metabolism) Tags
Green List (high evidence)	SLC39A8 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Congenital disorder of glycosylation, type IIn 616721 Tags
Green List (high evidence)	SLC3A1 Likely inborn error of metabolism v8.92	2 reviews 1 green	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 Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) Cystinuria (Disorders of amino acid transport) Hypotonia-cystinuria syndrome (Disorders of amino acid transport) Tags
Green List (high evidence)	SLC40A1 Likely inborn error of metabolism v8.92	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hemochromatosis, type 4 606069 (Disorder of iron metabolism) Hereditary haemochromatosis Type 4 (Disorder of iron metabolism) Tags
Green List (high evidence)	SLC46A1 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Folate malabsorption, hereditary, OMIM:229050 Hereditary folate malabsorption (Disorders of folate metabolism and transport) Tags
Green List (high evidence)	SLC46A1 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Folate malabsorption, hereditary, OMIM:229050 Tags
Green List (high evidence)	SLC4A10 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746 Tags
Green List (high evidence)	SLC4A4 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, 604278 PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES (PRTA-OA) Tags
Green List (high evidence)	SLC52A2 Likely inborn error of metabolism v8.92	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Brown-Vialetto-Van Laere syndrome 2 614707 Tags
Green List (high evidence)	SLC52A2 Paediatric motor neuronopathies v3.12	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list UKGTN Radboud University Medical Center, Nijmegen Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867 Hereditary sensory and autonomic neuropathy, MONDO:0015364 Tags treatable
Green List (high evidence)	SLC52A3 Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Brown-Vialetto-Van Laere syndrome 1 211530 Fazio-Londe disease 211500 Tags
Green List (high evidence)	SLC52A3 Paediatric motor neuronopathies v3.12	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes Brown-Vialetto-Van Laere syndrome 1, OMIM:211530 Tags
Green List (high evidence)	SLC5A1 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glucose/galactose malabsorption (Disorders of glucose transport) Glucose/galactose malabsorption 606824 (Disorders of glucose transport) Tags
Green List (high evidence)	SLC5A6 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973 Tags
Green List (high evidence)	SLC5A6 Intellectual disability v9.288	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973 Tags
Green List (high evidence)	SLC5A7 Congenital myaesthenic syndrome v5.7	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Eligibility statement prior genetic testing Phenotypes Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143 Tags
Green List (high evidence)	SLC6A1 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Myoclonic-atonic epilepsy, OMIM:616421 Tags
Green List (high evidence)	SLC6A17 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 Tags
Green List (high evidence)	SLC6A19 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review UKGTN Radboud University Medical Center, Nijmegen Literature Phenotypes Hartnup disorder 234500 Iminoglycinuria, digenic 242600 Tags
Green List (high evidence)	SLC6A19 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hartnup disorder, OMIM:234500 Tags
Green List (high evidence)	SLC6A3 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Early onset dystonia Dopamine transporter deficiency syndrome (Other disorders of neurotransmitter metabolism) Parkinson Disease and Complex Parkinsonism Tags
Green List (high evidence)	SLC6A3 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PARKINSONISM-DYSTONIA, INFANTILE Tags
Green List (high evidence)	SLC6A8 Intellectual disability v9.288	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 Phenotypes Cerebral creatine deficiency syndrome 1, 300352 X-LINKED CREATINE DEFICIENCY SYNDROME (XL-CDS) Tags
Green List (high evidence)	SLC6A8 Likely inborn error of metabolism v8.92	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Creatine transporter deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) Tags
Green List (high evidence)	SLC6A9 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Glycine encephalopathy with normal serum glycine, OMIM:617301 Tags
Green List (high evidence)	SLC7A7 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Lysinuric protein intolerance (Disorders of amino acid transport) Lysinuric protein intolerance 222700 Tags
Green List (high evidence)	SLC7A9 Likely inborn error of metabolism v8.92	2 reviews 1 green	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 Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) Cystinuria (Disorders of amino acid transport) Tags
Green List (high evidence)	SLC9A6 Intellectual disability v9.288	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 UKGTN Phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE (MRXSC) Tags
Green List (high evidence)	SLX4 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes FANCONI ANEMIA COMPLEMENTATION GROUP P Tags
Green List (high evidence)	SMAD4 Intellectual disability v9.288	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Myhre syndrome, 139210 Includes intellectual disability Tags
Green List (high evidence)	SMARCA2 Intellectual disability v9.288	6 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Nicolaides-Baraitser syndrome, OMIM:601358 Coffin-siris syndrome Blepharophimosis intellectual disability syndrome Tags
Green List (high evidence)	SMARCA4 Intellectual disability v9.288	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Coffin-Siris syndrome 4, OMIM:614609 Tags
Green List (high evidence)	SMARCA5 Intellectual disability v9.288	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes intellectual disability postnatal microcephaly hypotonia failure to thrive Tags gene-checked
Green List (high evidence)	SMARCB1 Intellectual disability v9.288	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Coffin-Siris syndrome 3, OMIM:614608 Tags
Green List (high evidence)	SMARCC2 Intellectual disability v9.288	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Global developmental delay Intellectual disability neurodevelopmental delay and growth retardation prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features Tags
Green List (high evidence)	SMARCD1 Intellectual disability v9.288	6 reviews 2 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Generalized hypotonia Feeding difficulties Global developmental delay Intellectual disability Abnormality of the hand Abnormality of the foot Coffin-Siris syndrome 11, 618779 Tags
Green List (high evidence)	SMARCE1 Intellectual disability v9.288	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Coffin-Siris syndrome 5, OMIM:616938 Tags
Green List (high evidence)	SMC1A Intellectual disability v9.288	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 Emory Genetics Laboratory Phenotypes Cornelia de Lange syndrome 2, OMIM:300590 Cornelia de Lange syndrome 2, MONDO:0010370 Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044 Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 Tags
Green List (high evidence)	SMC3 Intellectual disability v9.288	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cornelia de Lange syndrome 3, 610759 CDLS3 Tags
Green List (high evidence)	SMCHD1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	8 reviews 5 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Yorkshire and North East GLH NHS GMS South West GLH Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Phenotypes Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901 facioscapulohumeral muscular dystrophy 2, MONDO:0008031 Tags digenic
Green List (high evidence)	SMG8 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Intellectual disability Microcephaly Short stature Facial dysmorphism Tags
Green List (high evidence)	SMN1 Paediatric motor neuronopathies v3.12	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Spinal muscular atrophy 1, OMIM:253300 Spinal muscular atrophy 2, OMIM:253550 Spinal muscular atrophy 3, OMIM:253400 Spinal muscular atrophy 4, OMIM:271150 Tags cnv gene-therapy-trial
Green List (high evidence)	SMOC1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Microphthalmia with limb anomalies, 206920 OPHTHALMOACROMELIC SYNDROME (OAS) Tags
Green List (high evidence)	SMPD1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Niemann-Pick disease, type A, 257200 Niemann-Pick disease, type B, 607616 Tags
Green List (high evidence)	SMPD1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Niemann-Pick disease, type A, 257200Niemann-Pick disease, type B, 607616 NIEMANN-PICK DISEASE TYPE A (NPDA) Tags
Green List (high evidence)	SMPD4 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Research Phenotypes cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis Tags
Green List (high evidence)	SMPX Distal myopathies v6.16	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 NHS GMS Expert Review Green Literature Phenotypes Myopathy, distal, 7, adult-onset, X-linked, OMIM:301075 myopathy, distal, 7, adult-onset, X-linked, MONDO:0024771 Tags
Green List (high evidence)	SMS Intellectual disability v9.288	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, Snyder-Robinson type, 309583 SNYDER-ROBINSON SYNDROME (SRS) Tags
Green List (high evidence)	SNAP25 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Literature Radboud University Medical Center, Nijmegen Literature Phenotypes ?Myasthenic syndrome, congenital 18, 616330 ?Myasthenic syndrome, congenital, 18, 616330 Tags
Green List (high evidence)	SNAP29 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 CEDNIK SYNDROME Tags
Green List (high evidence)	SNF8 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags
Green List (high evidence)	SNIP1 Intellectual disability v9.288	4 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501 psychomotor retardation, epilepsy, and craniofacial dysmorphism MONDO:0013787 Tags founder-effect
Green List (high evidence)	SNORD118 Intellectual disability v9.288	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Leukoencephalopathy, brain calcifications, and cysts 614561 Tags locus-type-small-nucleolar
Green List (high evidence)	SNRPB Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes CEREBRO-COSTO-MANDIBULAR SYNDROME Tags
Green List (high evidence)	SNUPN Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 29, OMIM:620793 Tags
Green List (high evidence)	SNX14 Intellectual disability v9.288	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA Tags
Green List (high evidence)	SNX27 Intellectual disability v9.288	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Generalized hypotonia Global developmental delay Intellectual disability Seizures Tags gene-checked
Green List (high evidence)	SON Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes ZTTK syndrome 617140 Tags
Green List (high evidence)	SOS1 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Fibromatosis, gingival, 135300Noonan syndrome 4, 610733 NOONAN SYNDROME 4 Tags
Green List (high evidence)	SOS2 Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes Noonan syndrome 9 Tags
Green List (high evidence)	SOX10 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Waardenburg syndrome, type 4C, 613266Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584PCWH syndrome, 609136 PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (PCWH) Tags
Green List (high evidence)	SOX11 Intellectual disability v9.288	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Coffin-Siris syndrome 9, OMIM:615866 Tags
Green List (high evidence)	SOX2 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes AEG SYNDROME Tags
Green List (high evidence)	SOX4 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Coffin-Siris syndrome 10, OMIM:618506 Syndromic intellectual disability Global developmental delay Intellectual disability Growth delay Clinodactyly of the 5th finger facial dysmorphism Tags
Green List (high evidence)	SOX5 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes 12P12.5 INTRAGENIC DELETIONS ASSOCIATED WITH INTELLECTUAL DISABILITY Tags
Green List (high evidence)	SOX6 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes intellectual diability ADHD Craniosynostosis Osteochondromas Tags
Green List (high evidence)	SPART Intellectual disability v9.288	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Troyer syndrome, OMIM:275900 Tags
Green List (high evidence)	SPATA5 Intellectual disability v9.288	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577 Tags new-gene-name
Green List (high evidence)	SPATA5L1 Intellectual disability v9.288	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616 Tags gene-checked new-gene-name
Green List (high evidence)	SPECC1L Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes Opitz GBBB syndrome, type II,145410 Intellectual disability Autosomal dominant Opitz G/BBB syndrome Tags
Green List (high evidence)	SPEG Congenital myopathy v6.45	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Literature Phenotypes Centronuclear myopathy 5, OMIM:615959 Tags
Green List (high evidence)	SPEN Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental disorders Tags
Green List (high evidence)	SPG11 Paediatric motor neuronopathies v3.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099 Tags
Green List (high evidence)	SPG11 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 11, autosomal recessive, 604360 SPASTIC PARAPLEGIA-11 Tags
Green List (high evidence)	SPG7 Likely inborn error of metabolism v8.92	7 reviews 4 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 Spastic paraplegia 7, autosomal recessive, OMIM:607259 hereditary spastic paraplegia 7, MONDO:0011803 Tags digenic Q1_26_MOI Q1_26_NHS_review
Green List (high evidence)	SPOP Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Nabais Sa-de Vries syndrome, type 1, 618828 Nabais Sa-de Vries syndrome, type 2, 618829 Tags
Green List (high evidence)	SPR Intellectual disability v9.288	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 Tags treatable
Green List (high evidence)	SPR Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 Sepiapterin reductase deficiency (Disorders of pterin metabolism) Tags treatable
Green List (high evidence)	SPRED1 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Legius syndrome, 611431 LEGIUS SYNDROME Tags
Green List (high evidence)	SPRED2 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes developmental delay intellectual disability cardiac defects short stature skeletal anomalies a typical facial gestalt Tags
Green List (high evidence)	SPTAN1 Intellectual disability v9.288	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Developmental and epileptic encephalopathy 5, OMIM:613477 Developmental delay with or without epilepsy, OMIM:620540 Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538 Tags
Green List (high evidence)	SPTBN1 Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes autosomal dominant neurodevelopmental syndrome Tags
Green List (high evidence)	SPTBN2 Intellectual disability v9.288	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386 Tags
Green List (high evidence)	SPTBN4 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519 Tags
Green List (high evidence)	SPTBN4 Congenital myopathy v6.45	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Other Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519 Tags
Green List (high evidence)	SPTLC1 Likely inborn error of metabolism v8.92	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Charcot-Marie-Tooth disease Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Familial dysautonomia Tags
Green List (high evidence)	SPTLC2 Likely inborn error of metabolism v8.92	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Charcot-Marie-Tooth disease Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Familial dysautonomia Tags
Green List (high evidence)	SQSTM1 Distal myopathies v6.16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Dystal Myopathy with rimmed vacuoles, 617158 Tags
Green List (high evidence)	SRCAP Intellectual disability v9.288	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, OMIM:619595 Floating-Harbor syndrome, OMIM:136140 Tags
Green List (high evidence)	SRD5A3 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes SRD5A3-CDG (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Iq 612379 Tags
Green List (high evidence)	SRD5A3 Intellectual disability v9.288	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 Iq, 612379Kahrizi syndrome, 612713 CONGENITAL DISORDERS OF GLYCOSYLATION Tags
Green List (high evidence)	SRPK3 Congenital myopathy v6.45	7 reviews 4 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS London South GLH Phenotypes Slowly progressive myopathy, digenic Tags digenic
Green List (high evidence)	SRPK3 Intellectual disability v9.288	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Literature Phenotypes Intellectual developmental disorder, X-linked 114, OMIM:301134 Tags
Green List (high evidence)	SRRM2 Intellectual disability v9.288	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Intellectual developmental disorder, autosomal dominant 72, OMIM:620439 Tags
Green List (high evidence)	SRSF1 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:620489 Tags
Green List (high evidence)	SSBP1 Likely inborn error of metabolism v8.92	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert list Expert Review Green Phenotypes Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510 Tags
Green List (high evidence)	SSR4 Likely inborn error of metabolism v8.92	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type Iy 300934 Tags
Green List (high evidence)	SSR4 Intellectual disability v9.288	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Iy, 300934 CDG syndrome type Iy SSR4-CDG Tags
Green List (high evidence)	ST3GAL3 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Developmental and epileptic encephalopathy 15, OMIM:615006 developmental and epileptic encephalopathy, 15, MONDO:0014003 Intellectual developmental disorder, autosomal recessive 12, OMIM:611090 intellectual disability, autosomal recessive 12, MONDO:0012612 Tags
Green List (high evidence)	ST3GAL3 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Developmental and epileptic encephalopathy 15, OMIM:615006 developmental and epileptic encephalopathy, 15, MONDO:0014003 Intellectual developmental disorder, autosomal recessive 12, OMIM:611090 intellectual disability, autosomal recessive 12, MONDO:0012612 Tags
Green List (high evidence)	ST3GAL5 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Salt and pepper developmental regression syndrome 609056 GM3 synthase deficiency (Disorders of complex lipid synthesis) Tags
Green List (high evidence)	ST3GAL5 Intellectual disability v9.288	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Salt and pepper developmental regression syndrome, 609056 Developmental regression Intellectual disability Tags
Green List (high evidence)	STAC3 Congenital myopathy v6.45	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Phenotypes Myopathy, congenital, Baily-Bloch, OMIM:255995 Tags
Green List (high evidence)	STAG1 Intellectual disability v9.288	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 47, 617635 Syndromic unspecific intellectual disability Tags microdeletion
Green List (high evidence)	STAG2 Intellectual disability v9.288	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes STAG2-related developmental delay with microcephaly and congenital anomalies STAG2-related X-linked Intellectual Deficiency cohesinopathy Global developmental delay Intellectual disability Abnormality of head or neck Microcephaly Growth delay Hearing impairment Abnormal heart morphology Tags
Green List (high evidence)	STAMBP Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Microcephaly-capillary malformation syndrome, OMIM:614261 Tags
Green List (high evidence)	STIL Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Microcephaly 7, primary, autosomal recessive, 612703 MICROCEPHALY PRIMARY TYPE 7 Tags
Green List (high evidence)	STIM1 Congenital myopathy v6.45	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Green Expert UKGTN Radboud University Medical Center, Nijmegen Phenotypes Myopathy, tubular aggregate, 1, OMIM:160565 Tags missense
Green List (high evidence)	STIM1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Expert Review Phenotypes Myopathy, tubular aggregate, 1, 160565 Tags
Green List (high evidence)	STRA6 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Microphthalmia, syndromic 9, 601186Microphthalmia, isolated, with coloboma 8, 601186 MICROPHTHALMIA SYNDROMIC TYPE 9 (MCOPS9) Tags
Green List (high evidence)	STRADA Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, MIM:611087 (includes mental retardation) severe psychomotor retardation Tags deletions
Green List (high evidence)	STS Likely inborn error of metabolism v8.92	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London North GLH NHS GMS Phenotypes X-linked ichthyosis (Other disorders in the metabolism of sterols) Autosomal recessive congenital ichthyosis Tags
Green List (high evidence)	STT3A Likely inborn error of metabolism v8.92	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714 Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596 Tags
Green List (high evidence)	STT3A Intellectual disability v9.288	7 reviews 2 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714 Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596 Tags
Green List (high evidence)	STX1A Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	STX1B Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 Tags
Green List (high evidence)	STXBP1 Intellectual disability v9.288	5 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Developmental and epileptic encephalopathy 4, OMIM:612164 developmental and epileptic encephalopathy, 4, MONDO:0012812 Tags
Green List (high evidence)	SUCLA2 Rhabdomyolysis and metabolic muscle disorders v5.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Literature Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 Tags
Green List (high evidence)	SUCLA2 Likely inborn error of metabolism v8.92	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of mitochondrial DNA maintenance and integrity Tags
Green List (high evidence)	SUCLG1 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes FATAL INFANTILE LACTIC ACIDOSIS Tags
Green List (high evidence)	SUCLG1 Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial DNA Depletion Syndrome Disorders of mitochondrial DNA maintenance and integrity Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400 Tags
Green List (high evidence)	SUFU Intellectual disability v9.288	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Literature Phenotypes Joubert syndrome 32, OMIM:617757 Tags
Green List (high evidence)	SUMF1 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SULFATIDOSIS, JUVENILE, AUSTIN TYPE Tags
Green List (high evidence)	SUMF1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Multiple sulfatase deficiency Tags
Green List (high evidence)	SUOX Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Sulfite oxidase deficiency Tags
Green List (high evidence)	SUOX Intellectual disability v9.288	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Sulfite oxidase deficiency, 272300 Tags
Green List (high evidence)	SUPT16H Intellectual disability v9.288	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, OMIM:619480 Global developmental delay Intellectual disability Abnormality of the corpus callosum Tags
Green List (high evidence)	SURF1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leigh syndrome, due to COX deficiency, 256000 LEIGH SYNDROME (NUCLEAR DNA MUTATION) Tags
Green List (high evidence)	SURF1 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial Diseases Complex IV deficiency Leigh Syndrome Isolated complex IV deficiency Leigh syndrome, due to COX deficiency, 256000 Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Tags
Green List (high evidence)	SUZ12 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Imagawa-Matsumoto syndrome 618786 Tags
Green List (high evidence)	SVBP Intellectual disability v9.288	8 reviews 2 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM:618569 Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MONDO:0032816 Tags gene-checked
Green List (high evidence)	SYN1 Intellectual disability v9.288	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 Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS Tags
Green List (high evidence)	SYNCRIP Intellectual disability v9.288	6 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Global developmental delay Intellectual disability Autism Myoclonic atonic seizures Abnormality of nervous system morphology Tags gene-checked
Green List (high evidence)	SYNE1 Congenital muscular dystrophy v6.8	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant, OMIM:612998 Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484 Tags
Green List (high evidence)	SYNE1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998 Tags
Green List (high evidence)	SYNE2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	8 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Yorkshire and North East GLH NHS GMS South West GLH Radboud University Medical Center, Nijmegen Phenotypes Emery-Dreifuss muscular dystrophy 5, autosomal dominant, OMIM:612999 Tags
Green List (high evidence)	SYNGAP1 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Intellectual developmental disorder, autosomal dominant 5, OMIM:612621 Tags
Green List (high evidence)	SYNJ1 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes early onset refractory seizures and progressive neurological decline Epileptic encephalopathy, early infantile, 53, 617389 Tags
Green List (high evidence)	SYP Intellectual disability v9.288	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 Illumina TruGenome Clinical Sequencing Services Phenotypes Mental Retardation, X-linked Mental retardation, X-linked 96, 300802 MENTAL RETARDATION X-LINKED SYP-RELATED (MRXSYP) Tags
Green List (high evidence)	SYT1 Intellectual disability v9.288	6 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes INTELLECTUAL DISABILITY SYT1-associated neurodevelopmental disorder Tags de novo
Green List (high evidence)	SYT2 Congenital myaesthenic syndrome v5.7	6 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Radboud University Medical Center, Nijmegen Phenotypes Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040 Tags
Green List (high evidence)	SZT2 Intellectual disability v9.288	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 18, 615476 developmental delay non-syndromic intellectual disability absent developmental milestones Tags
Green List (high evidence)	TACO1 Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial Diseases Multiple respiratory chain complex deficiencies (disorders of protein synthesis) ?Mitochondrial complex IV deficiency, 220110 Isolated complex IV deficiency Mitochondrial Respiratory Chain Complex IV Deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Tags
Green List (high evidence)	TAF1 Intellectual disability v9.288	5 reviews 2 green 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Phenotypes Mental retardation, X-linked, syndromic 33, 300966 global developmental delay intellectual disability Tags
Green List (high evidence)	TAF2 Intellectual disability v9.288	6 reviews 3 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal recessive 40, OMIM:615599 Tags
Green List (high evidence)	TAF4 Intellectual disability v9.288	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Intellectual developmental disorder, autosomal dominant 73, OMIM:620450 Tags
Green List (high evidence)	TAF6 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes Alazami-Yuan syndrome, 617126 Intellectual disability Tags
Green List (high evidence)	TAF8 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, OMIM:619972 Tags
Green List (high evidence)	TALDO1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Transaldolase deficiency Tags
Green List (high evidence)	TAMM41 Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 56, OMIM:620139 Tags
Green List (high evidence)	TANC2 Intellectual disability v9.288	7 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Intellectual developmental disorder with autistic features and language delay, with or without seizures, 618906 Tags
Green List (high evidence)	TANGO2 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 Tags
Green List (high evidence)	TANGO2 Likely inborn error of metabolism v8.92	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 Tags
Green List (high evidence)	TANGO2 Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878 Tags
Green List (high evidence)	TAOK1 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental delay with or without intellectual impairment or behavioral abnormalities, OMIM:619575 Tags
Green List (high evidence)	TARS2 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 21, OMIM:615918 Tags
Green List (high evidence)	TASP1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Suleiman-El-Hattab syndrome, OMIM:618950 Tags
Green List (high evidence)	TAT Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Tyrosinemia, type II, 276600 TYROSINEMIA TYPE 2 (TYRO2) Tags
Green List (high evidence)	TAT Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Tyrosinaemia type II (Disorders of phenylalanine or tyrosine metabolism) Tags
Green List (high evidence)	TAZ Intellectual disability v9.288	5 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes BARTH SYNDROME BTHS Tags new-gene-name
Green List (high evidence)	TAZ Likely inborn error of metabolism v8.92	3 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 membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Barth syndrome, 302060 Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias) Disorders of mitochondrial lipid metabolism Tags new-gene-name
Green List (high evidence)	TBC1D20 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Phenotypes Warburg micro syndrome 4, 615663 mental retardation developmental delay Tags
Green List (high evidence)	TBC1D23 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 11, 617695 Intellectual disability Tags
Green List (high evidence)	TBC1D24 Intellectual disability v9.288	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Myoclonic epilepsy, infantile, familial, 605021Epileptic encephalopathy, early infantile, 16, 615338 NON SYNDROMAL HEARING LOSS Tags
Green List (high evidence)	TBC1D2B Intellectual disability v9.288	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with seizures and gingival overgrowth, OMIM:619323 neurodevelopmental disorder with seizures and gingival overgrowth, MONDO:0859148 Tags gene-checked
Green List (high evidence)	TBC1D7 Intellectual disability v9.288	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000 Tags
Green List (high evidence)	TBCD Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646 Tags
Green List (high evidence)	TBCE Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Kenny-Caffey syndrome, type 1, OMIM:244460 autosomal recessive Kenny-Caffey syndrome, MONDO:0009486 Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM:241410 hypoparathyroidism-retardation-dysmorphism syndrome, MONDO:0009426 Tags
Green List (high evidence)	TBCK Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 616900 Tags
Green List (high evidence)	TBL1XR1 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes AUTISM Tags
Green List (high evidence)	TBR1 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Autism Intellectual developmental disorder with autism and speech delay, 606053 Abnormal cortical gyration Tags
Green List (high evidence)	TCAP Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Limb-Girdle Muscular Dystrophy, Recessive Muscular dystrophy, limb-girdle, type 2G, 601954 Limb-girdle muscular dystrophy Tags
Green List (high evidence)	TCEAL1 Intellectual disability v9.288	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, OMIM:301094 Tags
Green List (high evidence)	TCF20 Intellectual disability v9.288	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes TCF20 syndrome Intellectual disability developmental delay Developmental delay with variable intellectual impairment and behavioral abnormalities 618430 Tags de novo
Green List (high evidence)	TCF4 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Pitt-Hopkins syndrome, 610954 PITT-HOPKINS SYNDROME (PTHS) Tags
Green List (high evidence)	TCF7L2 Intellectual disability v9.288	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental disorders Global developmental delay Intellectual disability Autism Attention deficit hyperactivity disorder Myopia Abnormality of skeletal system Tags
Green List (high evidence)	TCN2 Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Transcobalamin II deficiency can have a presentation similar to severe combined immunodeficiency pancytopenia neutropenic colitis Agammaglobulinemia megaloblastic bone marrow thrombocytopenia neutropenia failure to thrive hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow. Tags
Green List (high evidence)	TCN2 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Congenital neutropaenia Intellectual disability A- or hypo-gammaglobulinaemia Agranulocytosis Combined B and T cell defect SCID Transcobalamin II deficiency (Disorders of cobalamin absorption, transport and metabolism) Tags
Green List (high evidence)	TCTN2 Intellectual disability v9.288	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes JOUBERT SYNDROME AND RELATED DISORDERS Tags
Green List (high evidence)	TCTN3 Intellectual disability v9.288	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Orofaciodigital syndrome IV, 258860 Joubert syndrome 18, 614815 Tags
Green List (high evidence)	TDP2 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 23, 616949) Tags
Green List (high evidence)	TECPR2 Intellectual disability v9.288	6 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Spastic paraplegia 49, autosomal recessive, 615031 Tags
Green List (high evidence)	TEFM Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 58, OMIM:620451 Tags
Green List (high evidence)	TELO2 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Literature Phenotypes You-Hoover-Fong syndrome, 616954, syndromic intellectual disability Tags
Green List (high evidence)	TENM3 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Microphthalmia, syndromic 15, OMIM:615145 ?Microphthalmia, isolated, with coloboma 9, OMIM:615145 Microphthalmia, isolated, with coloboma 9, MONDO:0014059 Tags
Green List (high evidence)	TET3 Intellectual disability v9.288	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Beck-Fahrner syndrome OMIM:618798 Tags
Green List (high evidence)	TFAM Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM:617156 Tags
Green List (high evidence)	TFE3 Intellectual disability v9.288	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, OMIM:301066 Tags Skewed X-inactivation
Green List (high evidence)	TFR2 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hemochromatosis, type 3 604250 Hereditary haemochromatosis Type 3 (Disorder of iron metabolism) Tags
Green List (high evidence)	TGIF1 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes HOLOPROSENCEPHALY Tags
Green List (high evidence)	TH Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Early onset dystonia Tyrosine hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines) Parkinson Disease and Complex Parkinsonism Tags treatable
Green List (high evidence)	TH Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes DOPA-RESPONSIVE DYSTONIA Tags
Green List (high evidence)	THOC2 Intellectual disability v9.288	4 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Phenotypes Mental retardation, X-linked 12/35, 300957 Tags
Green List (high evidence)	THOC6 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Phenotypes Beaulieu-Boycott-Innes syndrome, 613680 Includes developmental delay and mental retardation Tags
Green List (high evidence)	THRA Intellectual disability v9.288	6 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 Tags
Green List (high evidence)	THUMPD1 Intellectual disability v9.288	8 reviews 4 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Neurodevelopmental disorder with speech delay and variable ocular anomalies, OMIM:619989 Tags
Green List (high evidence)	TIA1 Distal myopathies v6.16	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Welander distal myopathy, OMIM:604454 distal myopathy, Welander type, MONDO:0011466 Tags Q3_25_MOI
Green List (high evidence)	TIAM1 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with language delay and seizures, OMIM:619908 Tags
Green List (high evidence)	TIMM50 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Phenotypes 3-methylglutaconic aciduria, type IX, 617698 Tags
Green List (high evidence)	TIMM50 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Expert list Phenotypes 3-methylglutaconic aciduria, type IX 617698 Tags
Green List (high evidence)	TIMM8A Likely inborn error of metabolism v8.92	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mohr-Tranebjaerg syndrome, 304700 Jensen syndrome, 311150 Disorders of the mitochondrial import system Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Deafness, X-linked 1, progressive Tags
Green List (high evidence)	TIMMDC1 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Mitochondrial complex I deficiency, nuclear type 31, OMIM:618251 Tags
Green List (high evidence)	TK2 Likely inborn error of metabolism v8.92	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, OMIM:617069 Tags
Green List (high evidence)	TK2 Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Literature Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 Tags
Green List (high evidence)	TLK2 Intellectual disability v9.288	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Mental retardation, autosomal dominant 57, OMIM:618050 Mental retardation, autosomal dominant 57, MONDO:0054837 Tags
Green List (high evidence)	TMCO1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 614132 CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME Tags
Green List (high evidence)	TMEM106B Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 16, OMIM:617964 Leukodystrophy, hypomyelinating, 16, MONDO:0054791 Tags missense
Green List (high evidence)	TMEM126B Likely inborn error of metabolism v8.92	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Isolated complex I deficiency Tags
Green List (high evidence)	TMEM147 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly, OMIM:620075 Tags
Green List (high evidence)	TMEM165 Intellectual disability v9.288	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 IIk, 614727 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK Tags
Green List (high evidence)	TMEM165 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIk 614727 CDG2K (other congenital disorders of glycosylation) Tags
Green List (high evidence)	TMEM199 Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIp 616829 Tags new-gene-name
Green List (high evidence)	TMEM216 Intellectual disability v9.288	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes JOUBERT SYNDROME 2 Tags
Green List (high evidence)	TMEM222 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Motor delay Delayed speech and language development Intellectual disability Generalized hypotonia Broad-based gait Abnormality of nervous system morphology Seizures Microcephaly Behavioral abnormality Tags gene-checked
Green List (high evidence)	TMEM237 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Joubert syndrome 14, 614424 JOUBERT SYNDROME 14 Tags
Green List (high evidence)	TMEM240 Intellectual disability v9.288	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spinocerebellar ataxia 21, 607454 Tags
Green List (high evidence)	TMEM5 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 Tags new-gene-name
Green List (high evidence)	TMEM5 Intellectual disability v9.288	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SEVERE COBBLESTONE LISSENCEPHALY Tags new-gene-name
Green List (high evidence)	TMEM5 Congenital muscular dystrophy v6.8	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, OMIM:615041 Tags new-gene-name
Green List (high evidence)	TMEM63B Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes developmental and epileptic encephalopathy, MONDO:0100062 Tags gene-checked
Green List (high evidence)	TMEM63C Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes hereditary spastic paraplegia, MONDO:0019064 Tags gene-checked
Green List (high evidence)	TMEM67 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Meckel syndrome 3, 607361Joubert syndrome 6, 610688{Bardet-Biedl syndrome 14, modifier of}, 209900COACH syndrome, 216360Nephronophthisis 11, 613550 COACH SYNDROME(COACHS) Tags
Green List (high evidence)	TMEM70 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial Diseases Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 Isolated complex V deficiency Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type Tags
Green List (high evidence)	TMEM70 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 Tags
Green List (high evidence)	TMEM94 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316 Tags gene-checked
Green List (high evidence)	TMTC3 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Lissencephaly 8, 617255 includes intellectual disability Tags
Green List (high evidence)	TMX2 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887 Tags
Green List (high evidence)	TNNC2 Congenital myopathy v6.45	7 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London South GLH Phenotypes Myopathy, congenital, with neonatal respiratory insufficiency, OMIM:620161 Tags
Green List (high evidence)	TNNI1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Hypocontractile (AR LOF) or Hypercontractile (AD GOF) muscle disease Tags gene-checked
Green List (high evidence)	TNNI1 Congenital myopathy v6.45	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Hypocontractile muscle disease Tags gene-checked
Green List (high evidence)	TNNI2 Congenital myopathy v6.45	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London South GLH Expert UKGTN Phenotypes Arthrogryposis, distal, type 2B1, OMIM:601680 Tags
Green List (high evidence)	TNNT1 Congenital myopathy v6.45	6 reviews 5 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Phenotypes Nemaline myopathy 5, Amish type, OMIM:605355 Tags
Green List (high evidence)	TNNT3 Congenital myopathy v6.45	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London South GLH Expert UKGTN Phenotypes Arthrogryposis, distal, type 2B2, OMIM:618435 Tags
Green List (high evidence)	TNPO2 Intellectual disability v9.288	6 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Intellectual disability Dysmorphic features Microcephaly Seizures Hypotonia Tags
Green List (high evidence)	TNPO3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Expert Review Phenotypes Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 Tags
Green List (high evidence)	TNRC6B Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Global developmental delay Intellectual disability Autistic behaviour Tags
Green List (high evidence)	TOE1 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 7 614969 Tags
Green List (high evidence)	TOP3A Likely inborn error of metabolism v8.92	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Expert list Phenotypes ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 Tags
Green List (high evidence)	TOR1A Intellectual disability v9.288	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Arthrogryposis multiplex congenita 5, OMIM:618947 Arthrogryposis multiplex congenita 5, MONDO:0100218 Tags
Green List (high evidence)	TOR1AIP1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072 Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900 Tags
Green List (high evidence)	TOR1AIP1 Congenital myaesthenic syndrome v5.7	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072 Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900 Tags
Green List (high evidence)	TP73 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466 Tags
Green List (high evidence)	TPK1 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 Tags
Green List (high evidence)	TPM2 Congenital myopathy v6.45	7 reviews 5 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Phenotypes CAP myopathy 2, OMIM:609285 Nemaline myopathy 4, autosomal dominant, OMIM:609285 Tags
Green List (high evidence)	TPM3 Congenital myopathy v6.45	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Phenotypes CAP myopathy 1, OMIM:609284 Myopathy, congenital, with fiber-type disproportion, OMIM:255310 Nemaline myopathy 1, autosomal dominant or recessive, OMIM:609284 Tags
Green List (high evidence)	TPP1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500 NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 (CLN2) Tags
Green List (high evidence)	TPP1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Intellectual disability Ceroid lipofuscinosis, neuronal, 2 CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal) Hereditary ataxia Tags
Green List (high evidence)	TPP2 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Immunodeficiency 78 with autoimmunity and developmental delay, OMIM:619220 Tags
Green List (high evidence)	TRA2B Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	TRAF7 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Expert Review Phenotypes Cardiac, facial, and digital anomalies with developmental delay, 618164 Global developmental delay Abnormal heart morphology Abnormality of digit Abnormality of limbs Tags
Green List (high evidence)	TRAIP Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Literature Phenotypes Seckel syndrome 9, OMIM:616777 Tags
Green List (high evidence)	TRAP1 Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes VACTERL CAKUT Tags gene-checked
Green List (high evidence)	TRAPPC11 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, limb-girdle, type 2S, 615356 Tags
Green List (high evidence)	TRAPPC11 Congenital muscular dystrophy v6.8	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356 Tags
Green List (high evidence)	TRAPPC12 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696 Tags
Green List (high evidence)	TRAPPC4 Intellectual disability v9.288	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, 618741 Tags
Green List (high evidence)	TRAPPC6B Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, OMIM:617862 Tags
Green List (high evidence)	TRAPPC9 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Mental retardation, autosomal recessive 13, OMIM:613192 Tags
Green List (high evidence)	TRDN Congenital myopathy v6.45	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, OMIM:615441 Tags
Green List (high evidence)	TREX1 Intellectual disability v9.288	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750Chilblain lupus, 610448Vasculopathy, retinal, with cerebral leukodystrophy, 192315{Systemic lupus erythematosus, susceptibility to}, 152700 AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE Tags
Green List (high evidence)	TREX1 Likely inborn error of metabolism v8.92	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Intellectual disability Familial cerebral small vessel disease Intracerebral calcification disorders (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1 Inherited white matter disorders Tags
Green List (high evidence)	TRIM32 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Limb-Girdle Muscular Dystrophy, Recessive Muscular dystrophy, limb-girdle, type 2H, 254110 Limb-girdle muscular dystrophy Tags
Green List (high evidence)	TRIM37 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mulibrey nanism (Other peroxisomal disorders) Mulibrey nanism Tags
Green List (high evidence)	TRIM8 Intellectual disability v9.288	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 Tags
Green List (high evidence)	TRIO Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061 Intellectual developmental disorder, autosomal dominant 63, with macrocephaly, OMIM:618825 Tags
Green List (high evidence)	TRIP12 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Mental retardation, autosomal dominant 49 617752 Tags
Green List (high evidence)	TRIP4 Paediatric motor neuronopathies v3.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866 Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209 Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806 Tags
Green List (high evidence)	TRIP4 Congenital myopathy v6.45	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Phenotypes Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066 Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866 Tags
Green List (high evidence)	TRIT1 Likely inborn error of metabolism v8.92	3 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) Combined oxidative phosphorylation deficiency 35, OMIM :617873 combined oxidative phosphorylation deficiency 35, MONDO:0054742 Tags gene-checked
Green List (high evidence)	TRIT1 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 35, OMIM:617873 combined oxidative phosphorylation deficiency 35, MONDO:0054742 Tags gene-checked
Green List (high evidence)	TRMT1 Intellectual disability v9.288	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes autosomal recessive intellectual disorder ARID Mental retardation, autosomal recessive 68, 618302 Global developmental delay Intellectual disability Tags
Green List (high evidence)	TRMT10A Intellectual disability v9.288	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, 616033 Young onset diabetes, short stature and microcephaly with intellectual disability Tags
Green List (high evidence)	TRMT10C Likely inborn error of metabolism v8.92	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 30, 616974 Tags
Green List (high evidence)	TRMT5 Likely inborn error of metabolism v8.92	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539 Tags
Green List (high evidence)	TRMT5 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539 Tags
Green List (high evidence)	TRMU Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes {Deafness, mitochondrial, modifier of}, 580000 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Liver failure, transient infantile, 613070 Tags
Green List (high evidence)	TRNT1 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD) retinitis pigmentosa with erythrocytic microcytosis Tags
Green List (high evidence)	TRNT1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084 Tags
Green List (high evidence)	TRPM3 Intellectual disability v9.288	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, OMIM:620224 Tags missense
Green List (high evidence)	TRPM6 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hypomagnesemia 1, intestinal 602014 Hypomagnesaemia type 1, intestinal (Disorder of magnesium metabolism) Tags
Green List (high evidence)	TRPV4 Paediatric motor neuronopathies v3.12	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Distal Congenital Nonprogressive Spinal Muscular Atrophy Brachyolmia type 3, OMIM:113500 Tags
Green List (high evidence)	TRRAP Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Expert Review Literature Phenotypes Microcephaly Seizures Abnormal heart morphology Autism Developmental delay with or without dysmorphic facies and autism, 603015 Intellectual disability Abnormality of the urinary system Global developmental delay Tags
Green List (high evidence)	TSC1 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Tuberous sclerosis-1, 191100Lymphangioleiomyomatosis, 606690 Focal cortical dysplasia, Taylor balloon cell type, 607341 TUBEROUS SCLEROSIS TYPE 1 (TSC1) Tags
Green List (high evidence)	TSC2 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Tuberous sclerosis-2, 613254Lymphangioleiomyomatosis, somatic, 606690 LYMPHANGIOLEIOMYOMATOSIS (LAM) Tags
Green List (high evidence)	TSEN2 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 Tags
Green List (high evidence)	TSEN34 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pontocerebellar hypoplasia type 2C, OMIM:612390 pontocerebellar hypoplasia type 2C, MONDO:0012891 Tags Q4_25_demote_amber
Green List (high evidence)	TSEN54 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ?Pontocerebellar hypoplasia type 5, OMIM:610204 Pontocerebellar hypoplasia type 2A, OMIM:277470 Pontocerebellar hypoplasia type 4, OMIM:225753 Tags
Green List (high evidence)	TSFM Rhabdomyolysis and metabolic muscle disorders v5.14	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Combined oxidative phosphorylation deficiency 3 610505 Tags
Green List (high evidence)	TSFM Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Combined oxidative phosphorylation deficiency 3 610505 Tags
Green List (high evidence)	TSFM Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 3, 610505 Combined oxidative phosphorylation deficiency 3 610505 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Green List (high evidence)	TSHB Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4 Tags
Green List (high evidence)	TSPAN7 Intellectual disability v9.288	5 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes ntellectual developmental disorder, X-linked 58, OMIM:300210 intellectual disability, X-linked 58, MONDO:0010266 Tags Q3_25_demote_amber Q3_25_expert_review
Green List (high evidence)	TSPOAP1 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Dystonia, intellectual disability and cerebellar atrophy Tags
Green List (high evidence)	TTC19 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX III DEFICIENCY Tags
Green List (high evidence)	TTC19 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial Diseases Isolated complex III deficiency Mitochondrial Respiratory Chain Complex III Deficiency Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial complex III deficiency, nuclear type 2, 615157 Tags
Green List (high evidence)	TTC37 Likely inborn error of metabolism v8.92	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Infantile enterocolitis & monogenic inflammatory bowel disease Trichohepatoenteric syndrome 1 (Other metabolic disorders) Tags new-gene-name
Green List (high evidence)	TTC37 Intellectual disability v9.288	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Trichohepatoenteric syndrome 1, 222470 Tags new-gene-name
Green List (high evidence)	TTC5 Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, OMIM:619244 Tags gene-checked
Green List (high evidence)	TTC8 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bardet-Biedl syndrome 8, 209900Retinitis pigmentosa 51, 613464 RETINITIS PIGMENTOSA TYPE 51 (RP51) Tags
Green List (high evidence)	TTI1 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly and movement abnormalities, OMIM:620445 Tags
Green List (high evidence)	TTI2 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Mental retardation, autosomal recessive 39, 615541 Tags
Green List (high evidence)	TTN Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	8 reviews 3 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS South West GLH Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Muscular dystrophy, limb-girdle, type 2J, 608807 Limb girdle muscular dystrophy Distal myopathy Myofibrillar myopathy Congenital myopathy dilated cardiomyopathy HMERF arthrogryposis Tags
Green List (high evidence)	TTN Congenital myopathy v6.45	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Salih myopathy, OMIM:611705 Tags
Green List (high evidence)	TTN Distal myopathies v6.16	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Tibial muscular dystrophy, tardive, 600334 Tags
Green List (high evidence)	TTPA Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes TTP1 deficiency (Other disorders of vitamins and cofactors) Hereditary ataxia Tags
Green List (high evidence)	TUBA1A Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Lissencephaly 3, 611603 INTELLECTUAL DISABILITY Tags
Green List (high evidence)	TUBB Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 Tags
Green List (high evidence)	TUBB2A Intellectual disability v9.288	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763 Complex cortical dysplasia with other brain malformations 5, MONDO:0014337 Tags
Green List (high evidence)	TUBB2B Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031 Tags
Green List (high evidence)	TUBB3 Intellectual disability v9.288	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES Tags
Green List (high evidence)	TUBB4A Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM (H-ABC) Tags
Green List (high evidence)	TUBG1 Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 4, 615412 Tags
Green List (high evidence)	TUBGCP6 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION Tags
Green List (high evidence)	TUFM Likely inborn error of metabolism v8.92	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services 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 4 610678 Combined oxidative phosphorylation deficiency 4, 610678 Tags
Green List (high evidence)	TUSC3 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Intellectual developmental disorder, autosomal recessive 7, OMIM:611093 Tags
Green List (high evidence)	TUSC3 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Intellectual developmental disorder, autosomal recessive 7, OMIM:611093 Tags
Green List (high evidence)	TWIST1 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes SAETHRE-CHOTZEN SYNDROME Tags
Green List (high evidence)	TWNK Likely inborn error of metabolism v8.92	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR) Perrault syndrome 5, OMIM:616138 (AR) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD) Tags
Green List (high evidence)	TYMP Rhabdomyolysis and metabolic muscle disorders v5.14	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Literature UKGTN Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041 Tags
Green List (high evidence)	TYMP Likely inborn error of metabolism v8.92	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Thymidine phosphorylase deficiency (Disorders of pyrimidine metabolism) Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of mitochondrial DNA maintenance and integrity Mitochondrial Neurogastrointestinal Encephalopathy Disease Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 Tags
Green List (high evidence)	U2AF2 Intellectual disability v9.288	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags
Green List (high evidence)	UBA1 Paediatric motor neuronopathies v3.12	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830 Tags
Green List (high evidence)	UBA5 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Epileptic encephalopathy, early infantile, 44, 617132 Intellectual disability Tags
Green List (high evidence)	UBAP2L Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, OMIM:620494 Tags
Green List (high evidence)	UBE2A Intellectual disability v9.288	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, Nascimento-type, 300860 UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION Tags
Green List (high evidence)	UBE3A Intellectual disability v9.288	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Angelman syndrome, 105830 ANGELMAN SYNDROME Tags
Green List (high evidence)	UBE3B Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes BLEPHAROPHIMOSIS-MENTAL RETARDATION Tags
Green List (high evidence)	UBE4A Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability Tags
Green List (high evidence)	UBR1 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Johanson-Blizzard syndrome, 243800 JOHANSON-BLIZZARD SYNDROME (JBS) Tags
Green List (high evidence)	UBR7 Intellectual disability v9.288	6 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Intellectual disability epilepsy hypothyroidism congenital anomalies dysmorphic features Tags
Green List (high evidence)	UBTF Intellectual disability v9.288	4 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Phenotypes Neurodegeneration, childhood-onset, with brain atrophy, OMIM:617672 Tags
Green List (high evidence)	UFM1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Literature Phenotypes global developmental delay with progressive microcephaly Leukodystrophy hypomyelinating 14, 617899 Leukodystrophy, hypomyelinating, 14, 617899 Tags de novo
Green List (high evidence)	UFSP2 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Abnormal muscle tone Seizures Global developmental delay Delayed speech and language development Intellectual disability Strabismus Tags founder-effect
Green List (high evidence)	UGDH Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 84 - MIM #618792 Tags
Green List (high evidence)	UGP2 Intellectual disability v9.288	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 83, OMIM:618744 Tags
Green List (high evidence)	UGT1A1 Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Crigler-Najjar syndrome, type I 218800 Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport) Crigler-Najjar syndrome, type II 606785 Tags
Green List (high evidence)	UMOD Likely inborn error of metabolism v8.92	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cystic kidney disease Unexplained kidney failure in young people Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism) Tags
Green List (high evidence)	UMPS Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Intellectual disability Orotic aciduria Orotic aciduria (Disorders of pyrimidine metabolism) Tags
Green List (high evidence)	UMPS Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes OROTIC ACIDURIA TYPE 1 (ORAC1) Tags
Green List (high evidence)	UNC45B Congenital myopathy v6.45	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Myofibrillar myopathy 11, OMIM:619178 Tags
Green List (high evidence)	UNC80 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801 Tags
Green List (high evidence)	UPB1 Likely inborn error of metabolism v8.92	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism) Beta-ureidopropionase deficiency 613161 Tags
Green List (high evidence)	UPF3B Intellectual disability v9.288	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 Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Mental Retardation, X-linked Mental retardation, X-linked, syndromic 14, 300676 MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14 (MRXS14) Tags
Green List (high evidence)	UQCC2 Likely inborn error of metabolism v8.92	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824 Tags
Green List (high evidence)	UQCRB Likely inborn error of metabolism v8.92	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158 Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex III deficiency Tags
Green List (high evidence)	UQCRC2 Likely inborn error of metabolism v8.92	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 5, OMIM:615160 Tags
Green List (high evidence)	UQCRFS1 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775 Tags
Green List (high evidence)	UROC1 Intellectual disability v9.288	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes ?Urocanase deficiency , OMIM:276880 urocanic aciduria, MONDO:0010167 Tags Q4_25_demote_red
Green List (high evidence)	UROD Likely inborn error of metabolism v8.92	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Expert Review Green Phenotypes Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) Tags
Green List (high evidence)	UROS Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis) Porphyria, congenital erythropoietic 263700 Tags
Green List (high evidence)	USP7 Intellectual disability v9.288	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hao-Fountain syndrome, 616863 Tags
Green List (high evidence)	USP9X Intellectual disability v9.288	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Mental retardation, X-linked 99 300919 XLR Mental retardation, X-linked 99, syndromic, female-restricted 300968 Tags
Green List (high evidence)	VAMP1 Congenital myaesthenic syndrome v5.7	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Literature Phenotypes Myasthenic syndrome, congenital, 25, OMIM:618323 Tags
Green List (high evidence)	VAMP2 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Expert Review Literature Phenotypes Cortical visual impairment Seizures Stereotypic behavior Generalized hypotonia Intellectual disability Abnormality of movement Global developmental delay Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment Autistic behavior Tags
Green List (high evidence)	VARS Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Literature Expert Review Phenotypes NDMSCA Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 # 617802. NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY Tags new-gene-name
Green List (high evidence)	VARS2 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 20, 615917 Tags
Green List (high evidence)	VARS2 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Combined oxidative phosphorylation deficiency 20, OMIM #615917 Tags
Green List (high evidence)	VCP Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags
Green List (high evidence)	VCP Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320 Tags
Green List (high evidence)	VCP Distal myopathies v6.16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 Tags
Green List (high evidence)	VIPAS39 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404 ARC syndrome Tags
Green List (high evidence)	VKORC1 Likely inborn error of metabolism v8.92	2 reviews 1 green	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 Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473 Tags
Green List (high evidence)	VLDLR Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1 (CMARQ1) Tags
Green List (high evidence)	VMA21 Congenital myopathy v6.45	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS London South GLH Expert Review Green Expert Review Phenotypes Myopathy, X-linked, with excessive autophagy, OMIM:310440 Tags
Green List (high evidence)	VMA21 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Myopathy, X-linked, with excessive autophagy, 310440 X-Linked myopathy with excessive autophagy Tags
Green List (high evidence)	VPS11 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Radboud University Medical Center, Nijmegen Literature Phenotypes Leukodystrophy, hypomyelinating, 12, 616683 Leukodystrophy, hypomyelinating, 12 (MIM 616683) Tags
Green List (high evidence)	VPS13B Intellectual disability v9.288	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 Cohen syndrome, 216550 COHEN SYNDROME Tags
Green List (high evidence)	VPS16 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Other Phenotypes Mucopolysaccharidosis-like syndrome (biallelic) Dystonia Associated with Lysosomal Abnormalities (monoallelic) Dystonia 30, OMIM:619291 Tags
Green List (high evidence)	VPS33A Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Other Phenotypes Mucopolysaccharidosis-plus syndrome OMIM:617303 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012 Tags
Green List (high evidence)	VPS33B Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Inherited bleeding disorders Unexplained kidney failure in young people CAKUT ARC Syndrome (Other metabolic disorders) Arthrogryposis Tags
Green List (high evidence)	VPS41 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia Intellectual disability Tags
Green List (high evidence)	VPS4A Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Research Literature Phenotypes CIMDAG syndrome Tags
Green List (high evidence)	VPS53 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 2E, 615851 Progressive cerebello-cerebral atrophy intellectual disability developmental delay Tags founder-effect
Green List (high evidence)	VRK1 Paediatric motor neuronopathies v3.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Pontocerebellar hypoplasia type 1A, OMIM:607596 Tags
Green List (high evidence)	VRK1 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Pontocerebellar hypoplasia type 1A, 607596 PONTOCEREBELLAR HYPOPLASIA TYPE 1 Tags
Green List (high evidence)	WAC Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Paper out in august Tags
Green List (high evidence)	WARS2 Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 Tags
Green List (high evidence)	WARS2 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Expert Review Literature Phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 Tags
Green List (high evidence)	WASF1 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with absent language and variable seizures, 618707 ID associated with autistic features, seizures, and developmental delay intellectual disability Tags
Green List (high evidence)	WDFY3 Intellectual disability v9.288	6 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes Microcephaly 18, primary, autosomal dominant, 617520 Tags
Green List (high evidence)	WDPCP Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes BARDET-BIEDL SYNDROME TYPE 15 (BBS15) Tags
Green List (high evidence)	WDR26 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes Skraban-Deardorff syndrome 617616 intellectual disability Tags
Green List (high evidence)	WDR37 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Seizures Abnormality of the eye Abnormality of nervous system morphology Hearing abnormality Abnormality of the cardiovascular system Abnormality of the skeletal system Abnormality of the genitourinary system Neurooculocardiogenitourinary syndrome, OMIM:618652 Tags gene-checked missense
Green List (high evidence)	WDR4 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galloway-Mowat syndrome 6, OMIM:61834 Microcephaly, growth deficiency, seizures, and brain malformations, OMIM:618347 Tags
Green List (high evidence)	WDR45 Likely inborn error of metabolism v8.92	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources London North GLH NHS GMS Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 5 Tags
Green List (high evidence)	WDR45 Intellectual disability v9.288	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 Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Neurodegeneration with brain iron accululation 5, 300894 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (NBIA) Tags
Green List (high evidence)	WDR45B Intellectual disability v9.288	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977 Tags
Green List (high evidence)	WDR5 Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green List (high evidence)	WDR62 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317 Tags
Green List (high evidence)	WDR73 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME Galloway-Mowat syndrome 1, 251300 Tags
Green List (high evidence)	WDR81 Intellectual disability v9.288	7 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes cerebellar ataxia, intellectual disability and quadrupedal locomotion Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 Tags
Green List (high evidence)	WDR83OS Intellectual disability v9.288	4 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with variable familial hypercholanemia, OMIM:621016 Tags gene-checked
Green List (high evidence)	WFS1 Likely inborn error of metabolism v8.92	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH NHS GMS Phenotypes Wolfram syndrome 1, OMIM:222300 Wolfram-like syndrome, autosomal dominant, OMIM:614296 Diabetes mellitus, noninsulin-dependent, association with, OMIM:125853 Tags
Green List (high evidence)	WIPI2 Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Intellectual developmental disorder with short stature and variable skeletal anomalies, OMIM:618453 Tags
Green List (high evidence)	WNK3 Intellectual disability v9.288	4 reviews 1 green 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Prieto syndrome, OMIM:309610 Intellectual disability, MONDO:0001071 Tags
Green List (high evidence)	WNT1 Intellectual disability v9.288	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Osteogenesis imperfecta, type XV, 615220 {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 Tags
Green List (high evidence)	WWOX Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 Tags
Green List (high evidence)	XDH Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Xanthinuria type II (Disorders of purine metabolism) Xanthinuria type I (Disorders of purine metabolism) Tags
Green List (high evidence)	XPNPEP3 Likely inborn error of metabolism v8.92	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Nephronophthisis-like nephropathy 1 OMIM:613159 nephronophthisis-like nephropathy 1 MONDO:0013163 Tags
Green List (high evidence)	XRCC4 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Short stature, microcephaly, and endocrine dysfunction, OMIM:616541 Tags
Green List (high evidence)	XYLT1 Intellectual disability v9.288	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Desbuquois dysplasia 2, OMIM:615777 Desbuquois dysplasia 2, MONDO:0014343 Tags STR
Green List (high evidence)	XYLT1 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Desbuquois dysplasia 2, OMIM:615777 Desbuquois dysplasia 2, MONDO:0014343 Tags STR
Green List (high evidence)	XYLT2 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spondyloocular syndrome Tags
Green List (high evidence)	YARS2 Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 Tags
Green List (high evidence)	YIF1B Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Kaya-Barakat-Masson syndrome, OMIM:619125 Tags gene-checked
Green List (high evidence)	YIPF5 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278 Tags
Green List (high evidence)	YWHAG Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Literature Phenotypes Epileptic encephalopathy, early infantile 56, 617665 Intellectual disability Tags
Green List (high evidence)	YY1 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Gabriele-de Vries syndrome 617557 Tags
Green List (high evidence)	ZBTB18 Intellectual disability v9.288	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes intellectual disability with variable features global developmental delay Mental retardation, autosomal dominant 22, 612337 Tags
Green List (high evidence)	ZBTB20 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes PRIMROSE SYNDROME Tags
Green List (high evidence)	ZBTB24 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069 intellectual disability Tags
Green List (high evidence)	ZBTB47 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO 0700092 Tags gene-checked
Green List (high evidence)	ZBTB7A Intellectual disability v9.288	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Other Literature Phenotypes Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin, OMIM:619769 Tags
Green List (high evidence)	ZC4H2 Intellectual disability v9.288	5 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Phenotypes Wieacker-Wolff syndrome, OMIM:314580 Wieacker-Wolff syndrome, female-restricted, OMIM:301041 Tags
Green List (high evidence)	ZC4H2 Congenital myopathy v6.45	4 reviews 4 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS London South GLH Phenotypes Wieacker-Wolff syndrome, OMIM:314580 Wieacker-Wolff syndrome, female-restricted, OMIM:301041 Tags
Green List (high evidence)	ZDHHC9 Intellectual disability v9.288	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, Raymond type, OMIM:300799 Tags
Green List (high evidence)	ZEB2 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Mowat-Wilson syndrome, 235730 MOWAT-WILSON SYNDROME (MWIS) Tags
Green List (high evidence)	ZFHX3 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes syndromic intellectual disability Tags
Green List (high evidence)	ZFHX4 Intellectual disability v9.288	7 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Developmental disorders intellectual disability, dysmorphic features Tags
Green List (high evidence)	ZFX Intellectual disability v9.288	6 reviews 3 green 3 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes Intellectual developmental disorder, X-linked syndromic 37, OMIM:301118 Tags
Green List (high evidence)	ZFYVE26 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Spastic paraplegia 15, autosomal recessive, OMIM:270700 Tags
Green List (high evidence)	ZIC1 Intellectual disability v9.288	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Structural brain anomalies with impaired intellectual development and craniosynostosis, 618736 ?Craniosynostosis 6, 616602 Tags
Green List (high evidence)	ZIC2 Intellectual disability v9.288	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Holoprosencephaly-5, 609637 HOLOPROSENCEPHALY Tags
Green List (high evidence)	ZMIZ1 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Expert Review Literature Phenotypes Abnormality of head or neck Microcephaly Abnormality of the cardiovascular system Abnormality of the skeletal system Feeding difficulties Intellectual disability Global developmental delay Abnormality of the urinary system Growth abnormality Global developmental delay, Intellectual disability, Feeding difficulties, Growth abnormality, Microcephaly, Abnormality of the skeletal system, Abnormality of the urinary system, Abnormality of the cardiovascular system, Abnormality of head or neck Tags
Green List (high evidence)	ZMYM2 Intellectual disability v9.288	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522 Tags
Green List (high evidence)	ZMYM3 Intellectual disability v9.288	5 reviews 2 green 3 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes Intellectual developmental disorder, X-linked 112, OMIM:301111 Tags
Green List (high evidence)	ZMYND11 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green List (high evidence)	ZMYND8 Intellectual disability v9.288	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Delayed speech and language development Motor delay Intellectual disability Abnormality of cardiovascular system morphology Hearing abnormality Abnormality of vision Abnormality of the face Seizures Tags gene-checked
Green List (high evidence)	ZNF142 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Expert Review Green Expert Review Literature Phenotypes Seizures Dystonia Intellectual disability Global developmental delay Tremor Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 Tags
Green List (high evidence)	ZNF292 Intellectual disability v9.288	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Radboud University Medical Center, Nijmegen Phenotypes Intellectual developmental disorder, autosomal dominant 64, OMIM:619188 intellectual developmental disorder, autosomal dominant 64, MONDO:0030934 Tags
Green List (high evidence)	ZNF335 Intellectual disability v9.288	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Other Phenotypes Microcephaly 10, primary, autosomal recessive, 615095 Tags
Green List (high evidence)	ZNF462 Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Expert Review Green Expert Review Radboud University Medical Center, Nijmegen Literature Phenotypes Prominent metopic ridge Ptosis Ptosis, Prominent metopic ridge, Craniosynostosis, Global developmental delay, Intellectual disability, Autistic behavior Intellectual disability Global developmental delay Craniosynostosis Autistic behavior Tags
Green List (high evidence)	ZNF526 Intellectual disability v9.288	5 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Intellectual disability Microcephaly Cataracts Epilepsy Hypertonia Dystonia Tags
Green List (high evidence)	ZNF699 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes DEGCAGS syndrome, OMIM:619488 Tags
Green List (high evidence)	ZNF711 Intellectual disability v9.288	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 Illumina TruGenome Clinical Sequencing Services Phenotypes Mental Retardation, X-linked Mental retardation, X-linked 97, 300803 MENTAL RETARDATION X-LINKED ZNF711-RELATED (MRXZ) Tags
Green List (high evidence)	ZNFX1 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Immunodeficiency 91 and hyperinflammation, OMIM:619644 immunodeficiency 91 and hyperinflammation, MONDO:0030491 Tags gene-checked
Green List (high evidence)	ZSWIM6 Intellectual disability v9.288	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes Acromelic frontonasal dysostosis, 603671 Includes mental retardation acromelic frontonasal dysostosis with severe intellectual disability Tags curated-variant-list mosaicism
Amber List (moderate evidence)	ABI2 Intellectual disability v9.288	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes intellectual disability, MONDO:0001071 neurodevelopmental disorder, MONDO:0700092 Tags
Amber List (moderate evidence)	ACADSB Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes 2-methylbutyrylglycinuria, 610006 Tags
Amber List (moderate evidence)	ACADVL Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes VLCAD deficiency, 201475 Tags
Amber List (moderate evidence)	ACAT1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber List (moderate evidence)	ACOX2 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber ClinGen Other Phenotypes Bile acid synthesis defect, congenital, 6, OMIM:617308 Tags Q3_25_promote_green
Amber List (moderate evidence)	ACP5 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spondyloenchondrodysplasia with immune dysregulation, 607944 Tags
Amber List (moderate evidence)	ACTA1 Congenital muscular dystrophy v6.8	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes CMD with rigid spine Nemaline myopathy 3, autosomal dominant or recessive 161800 Myopathy, congenital, with fiber-type disproportion 1 255310 Tags
Amber List (moderate evidence)	ACTA2 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Aortic aneurysm, familial thoracic 6, 611788 Multisystemic smooth muscle dysfunction syndrome, 613834 Moyamoya disease 5, 614042 Tags
Amber List (moderate evidence)	ACVR1 Intellectual disability v9.288	5 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Fibrodysplasia ossificans progressiva 135100 Tags
Amber List (moderate evidence)	ADA Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Severe combined immunodeficiency due to ADA deficiency, OMIM:102700 Adenosine deaminase deficiency, partial, OMIM:102700 Tags gene-therapy-trial
Amber List (moderate evidence)	ADAMTS10 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Weill-Marchesani syndrome 1, recessive, MIM#277600 Tags
Amber List (moderate evidence)	ADCY5 Intellectual disability v9.288	8 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, OMIM:619651 neurodevelopmental disorder with hyperkinetic movements and dyskinesia, MONDO:0859211 Tags
Amber List (moderate evidence)	ADPRHL2 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095 Tags new-gene-name watchlist
Amber List (moderate evidence)	AGAP1 Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Cerebral palsy Tags
Amber List (moderate evidence)	AGMO Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes microcephaly intellectual disability epilepsy developmental delay Tags
Amber List (moderate evidence)	AGPAT3 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags
Amber List (moderate evidence)	AGPS Intellectual disability v9.288	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Rhizomelic chondrodysplasia punctata, type 3, 600121 Tags
Amber List (moderate evidence)	AGXT Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Hyperoxaluria, primary, type 1, 259900 Tags
Amber List (moderate evidence)	AIMP2 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Literature Phenotypes Leukodystrophy, hypomyelinating, 17,OMIM:618006 leukodystrophy, hypomyelinating, 17, MONDO:0054817 neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis Tags Q1_26_promote_green
Amber List (moderate evidence)	AIPL1 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Leber congenital amaurosis 4, 604393 Retinitis pigmentosa, juvenile, 604393 Cone-rod dystrophy, 604393 Tags
Amber List (moderate evidence)	AIRE Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300 autoimmune polyendocrine syndrome type 1, MONDO:0009411 Tags
Amber List (moderate evidence)	AK2 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes NA Tags
Amber List (moderate evidence)	AKR1D1 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Bile acid synthesis defect, congenital, 2, 235555 Tags
Amber List (moderate evidence)	AKT1 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cowden syndrome 6 OMIM:164730 Tags watchlist
Amber List (moderate evidence)	ALAD Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Porphyria, acute hepatic, 612740 {Lead poisoning, susceptibility to}, 612740 Tags
Amber List (moderate evidence)	ALDOA Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber List (moderate evidence)	ALG13 Likely inborn error of metabolism v8.92	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber London North GLH NHS GMS Phenotypes ?Congenital disorder of glycosylation, type Is 300884 Epileptic encephalopathy, early infantile, 36 300884 Tags
Amber List (moderate evidence)	ALG14 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 Intellectual disability Tags
Amber List (moderate evidence)	ALG2 Likely inborn error of metabolism v8.92	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Myasthenic syndrome, congenital, 14, with tubular aggregates 616228 Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation) ?Congenital disorder of glycosylation, type Ii 607906 Tags
Amber List (moderate evidence)	ALPL Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Hypophosphatasia, adult, OMIM:146300 Hypophosphatasia, childhood, OMIM:241510 Hypophosphatasia, infantile, OMIM:241500 Odontohypophosphatasia, OMIM:146300 Tags
Amber List (moderate evidence)	ALS2 Paediatric motor neuronopathies v3.12	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100 Spastic paralysis, infantile onset ascending, OMIM:607225 Tags
Amber List (moderate evidence)	ALX3 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber List (moderate evidence)	ALX4 Intellectual disability v9.288	7 reviews 2 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Parietal foramina Parietal foramina 2, (AD), 609597 Frontonasal dysplasia 2, (AR), 613451 Tags
Amber List (moderate evidence)	ANKS1B Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes complex neurodevelopmental disorder, MONDO:0100038 Tags
Amber List (moderate evidence)	ANO5 Intellectual disability v9.288	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gnathodiaphyseal dysplasia, 166260 Muscular dystrophy, limb-girdle, type 2L, 611307 Miyoshi muscular dystrophy 3, 613319 Tags
Amber List (moderate evidence)	ANTXR1 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes {Hemangioma, capillary infantile, susceptibility to}, 602089 GAPO syndrome, 230740 Tags
Amber List (moderate evidence)	ANXA11 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Inclusion body myopathy and brain white matter abnormalities, OMIM:619733 inclusion body myopathy and brain white matter abnormalities, MONDO:0850514 Tags founder-effect Q3_25_promote_green
Amber List (moderate evidence)	AP1B1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150 KID syndrome, MONDO:0018781 Tags Q3_25_promote_green
Amber List (moderate evidence)	AP2S1 Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental disorder Tags watchlist
Amber List (moderate evidence)	ARHGAP35 Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental disorder Tags gene-checked watchlist
Amber List (moderate evidence)	ARHGEF40 Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes developmental delay Tags watchlist
Amber List (moderate evidence)	ARL14EP Intellectual disability v9.288	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Amber List (moderate evidence)	ARMC4 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ciliary dyskinesia, primary, 23, 615451 Tags new-gene-name
Amber List (moderate evidence)	ASCC3 Intellectual disability v9.288	5 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual developmental disorder, autosomal recessive 81, OMIM:620700 Tags Q1_25_ promote_green
Amber List (moderate evidence)	ASTN1 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags Q1_26_promote_green
Amber List (moderate evidence)	ATG4D Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags
Amber List (moderate evidence)	ATOH1 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Deafness, autosomal dominant 89 , OMIM:620284 hearing loss, autosomal dominant 89, MONDO:0859528 pontocerebellar hypoplasia, MONDO:0020135 Tags Q1_26_promote_green
Amber List (moderate evidence)	ATP11A Intellectual disability v9.288	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder Tags watchlist
Amber List (moderate evidence)	ATP2A2 Rhabdomyolysis and metabolic muscle disorders v5.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Dominant rhabdomyolysis Tags Q1_25_ promote_green
Amber List (moderate evidence)	ATP5B Likely inborn error of metabolism v8.92	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes ?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, OMIM: 620085 Tags new-gene-name
Amber List (moderate evidence)	ATP6AP1 Intellectual disability v9.288	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert list Phenotypes Immunodeficiency 47, MIM#300972 Tags watchlist
Amber List (moderate evidence)	ATP7A Paediatric motor neuronopathies v3.12	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert Radboud University Medical Center, Nijmegen Phenotypes Menkes disease, OMIM:309400 Occipital horn syndrome, OMIM:304150 Spinal muscular atrophy, distal, X-linked 3, OMIM:300489 Tags
Amber List (moderate evidence)	ATXN10_ATTCT STR Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Expert list Phenotypes Spinocerebellar ataxia 10, OMIM:603516 Tags STR
Amber List (moderate evidence)	ATXN2L Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual disability Macrocephaly Tags watchlist
Amber List (moderate evidence)	B3GALT6 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 Ehlers-Danlos syndrome, progeroid type, 2, 615349 Tags
Amber List (moderate evidence)	B4GALT1 Intellectual disability v9.288	5 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Congenital disorder of glycosylation, type IId, OMIM:607091 Tags
Amber List (moderate evidence)	BAIAP2 Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Other Phenotypes developmental and epileptic encephalopathy, MONDO:0100620 classic lissencephaly, MONDO:0015146 Tags Q4_25_promote_green
Amber List (moderate evidence)	BCORL1 Intellectual disability v9.288	7 reviews 1 green 3 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 Amber Phenotypes Shukla-Vernon syndrome, 301029 Tags watchlist
Amber List (moderate evidence)	BHLHE22 Intellectual disability v9.288	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 Tags gene-checked watchlist
Amber List (moderate evidence)	BORCS5 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes arthrogryposis multiplex congenita, MONDO:0015168 neurodevelopmental disorder, MONDO:0700092 Tags
Amber List (moderate evidence)	BRSK1 Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 Tags
Amber List (moderate evidence)	BSN Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags Q4_25_promote_green
Amber List (moderate evidence)	BSND Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber List (moderate evidence)	C12orf66 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, autosomal recessive 83, OMIM:621100 Tags new-gene-name Q1_25_ promote_green
Amber List (moderate evidence)	C16orf62 Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 3C/Ritscher-Schinzel-like syndrome Tags new-gene-name
Amber List (moderate evidence)	C2orf69 Likely inborn error of metabolism v8.92	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Literature Phenotypes Combined oxidative phosphorylation deficiency 53, OMIM:619423 Tags gene-checked Q2_25_ promote_green
Amber List (moderate evidence)	C8orf37 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Retinitis pigmentosa 64, 614500 Cone-rod dystrophy 16, 614500 Tags new-gene-name
Amber List (moderate evidence)	CACNA2D2 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebellar atrophy with seizures and variable developmental delay, 618501 Tags
Amber List (moderate evidence)	CACNB4 Intellectual disability v9.288	5 reviews 1 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Phenotypes Episodic ataxia, type 5 613855 {Epilepsy, idiopathic generalized, susceptibility to, 9} 607682 {Epilepsy, juvenile myoclonic, susceptibility to, 6} 607682 Tags
Amber List (moderate evidence)	CAMK2G Intellectual disability v9.288	5 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Mental retardation, autosomal dominant 59, 618522 Tags
Amber List (moderate evidence)	CAPZA2 Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes intellectual disability Tags
Amber List (moderate evidence)	CARS2 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Combined oxidative phosphorylation deficiency 27 616672 Tags
Amber List (moderate evidence)	CASQ1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS Expert Review Phenotypes Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231 Tags
Amber List (moderate evidence)	CASQ1 Rhabdomyolysis and metabolic muscle disorders v5.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231 Tags Q3_25_promote_green
Amber List (moderate evidence)	CASR Intellectual disability v9.288	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Hypocalciuric hypercalcemia, type I, 145980 Tags
Amber List (moderate evidence)	CCDC186 Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes failure to thrive and developmental delay Tags watchlist
Amber List (moderate evidence)	CCDC78 Congenital myopathy v6.45	7 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS London South GLH Expert Radboud University Medical Center, Nijmegen Phenotypes Myopathy, centronuclear, 4, OMIM:614807 Tags
Amber List (moderate evidence)	CCNK Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes ?Intellectual developmental disorder with hypertelorism and distinctive facies, OMIM:618147 intellectual developmental disorder with hypertelorism and distinctive facies, MONDO:0029143 Tags Q4_25_promote_green
Amber List (moderate evidence)	CCT3 Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, OMIM:621034 neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MONDO:0976125 Tags Q1_26_promote_green
Amber List (moderate evidence)	CCT6A Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 Tags gene-checked Q3_25_promote_green
Amber List (moderate evidence)	CCT8 Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes CCT8-related neurodevelopmental disorder with brain abnormalities Tags
Amber List (moderate evidence)	CD320 Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Methylmalonic aciduria, transient, due to transcobalamin receptor defect, OMIM:613646 methylmalonic acidemia due to transcobalamin receptor defect, MONDO:0013341 Tags
Amber List (moderate evidence)	CD96 Intellectual disability v9.288	5 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes C syndrome, 211750 Tags
Amber List (moderate evidence)	CDC42BPB Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Chilton-Okur-Chung neurodevelopmental syndrome, OMIM:619841 Chilton-Okur-Chung neurodevelopmental syndrome, MONDO:0859239 Tags
Amber List (moderate evidence)	CDK9 Intellectual disability v9.288	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Global developmental delay HP:0001263 syndromic intellectual disability MONDO:0000508 Tags gene-checked Q3_25_promote_green watchlist
Amber List (moderate evidence)	CDKN1C Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes IMAGE syndrome, 614732 ntrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies Tags
Amber List (moderate evidence)	CELF4 Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags dd_review Q2_25_ promote_green
Amber List (moderate evidence)	CELSR3 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags Q1_26_promote_green
Amber List (moderate evidence)	CEP295 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Seckel syndrome 11, OMIM:620767 Tags
Amber List (moderate evidence)	CEP63 Intellectual disability v9.288	4 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes ?Seckel syndrome 6 614728 Developmental dyslexia Tags
Amber List (moderate evidence)	CHD1 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Pilarowski-Bjornsson syndrome, MIM#617682 Tags
Amber List (moderate evidence)	CHL1 Intellectual disability v9.288	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes verbal function and developmental delay Tags cnv
Amber List (moderate evidence)	CHRM1 Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental delay intellectual disability, MONDO:0001071 autism Tags watchlist
Amber List (moderate evidence)	CHST14 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber List (moderate evidence)	CIAO1 Congenital myaesthenic syndrome v5.7	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960 Tags to_be_confirmed_NHSE
Amber List (moderate evidence)	CLCN2 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Leukoencephalopathy with ataxia, OMIM:615651 Tags
Amber List (moderate evidence)	CLCN7 Likely inborn error of metabolism v8.92	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Expert Review Amber Phenotypes Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541 Tags watchlist
Amber List (moderate evidence)	CMPK2 Likely inborn error of metabolism v8.92	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Basal ganglia calcification, idiopathic, 10, autosomal recessive, OMIM:621018 basal ganglia calcification, idiopathic, 10, autosomal recessive, MONDO:0975875 Tags Q3_25_promote_green
Amber List (moderate evidence)	CNPY3 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Epileptic encephalopathy, early infantile, 60 (MIM 617929) Tags
Amber List (moderate evidence)	CNTN1 Congenital myopathy v6.45	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Myopathy, congenital, Compton-North, OMIM:612540 Tags watchlist
Amber List (moderate evidence)	COA3 Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Ostergaard et al., 2015, J. Med. Genet., 52, 203-207. Tags
Amber List (moderate evidence)	COASY Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Neurodegeneration with brain iron accumulation 6, 615643 Pontocerebellar hypoplasia, type 12, 618266 Tags
Amber List (moderate evidence)	COG3 Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, type IIbb, OMIM:620546 Tags
Amber List (moderate evidence)	COG3 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, type IIbb, OMIM:620546 Tags
Amber List (moderate evidence)	COL4A1 Congenital muscular dystrophy v6.8	7 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS London South GLH Expert Review Phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, MONDO:0012726 Tags
Amber List (moderate evidence)	COPB1 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Baralle-Macken syndrome, OMIM:619255 Severe intellectual disability Cataracts Variable microcephaly Tags watchlist
Amber List (moderate evidence)	COQ9 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber List (moderate evidence)	COX11 Likely inborn error of metabolism v8.92	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275 Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 Tags Q2_25_ promote_green
Amber List (moderate evidence)	COX18 Likely inborn error of metabolism v8.92	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes mitochondrial disease, MONDO:0044970 Charcot-Marie-Tooth disease, MONDO:0015626 Tags Q3_25_promote_green
Amber List (moderate evidence)	COX4I1 Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mitochondrial complex IV deficiency, nuclear type 16, OMIM:619060 Tags Q2_25_ promote_green
Amber List (moderate evidence)	COX4I2 Likely inborn error of metabolism v8.92	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714 Tags
Amber List (moderate evidence)	COX6A2 Likely inborn error of metabolism v8.92	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062 Tags Q2_25_ promote_green
Amber List (moderate evidence)	COX7B Intellectual disability v9.288	3 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber List (moderate evidence)	CPSF3 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures, OMIM:619876 Tags
Amber List (moderate evidence)	CRBN Intellectual disability v9.288	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal recessive 2 607417 Tags watchlist
Amber List (moderate evidence)	CRMP1 Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags watchlist
Amber List (moderate evidence)	CRNKL1 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, OMIM:621436 complex neurodevelopmental disorder, MONDO:0100038 Tags dd_review Q3_25_promote_green
Amber List (moderate evidence)	CSTB Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Amber Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 Tags nucleotide-repeat-expansion
Amber List (moderate evidence)	CSTF2 Intellectual disability v9.288	5 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Intellectual disability, MONDO:0001071 Tags
Amber List (moderate evidence)	CTC1 Intellectual disability v9.288	7 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199 Tags
Amber List (moderate evidence)	CTNND2 Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes CTNND2-related neurodevelopmental disorder Tags
Amber List (moderate evidence)	CYCS Likely inborn error of metabolism v8.92	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Thrombocytopenia 4, OMIM:612004 Tags Q2_25_ promote_green
Amber List (moderate evidence)	CYP27A1 Intellectual disability v9.288	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cerebrotendinous xanthomatosis 213700 Tags watchlist
Amber List (moderate evidence)	CYP2U1 Intellectual disability v9.288	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes HEREDITARY SPASTIC PARAPLEGIA Tags
Amber List (moderate evidence)	DALRD3 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Developmental and epileptic encephalopathy 86, # 618910 Tags
Amber List (moderate evidence)	DAP3 Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Perrault syndrome 7, OMIM:621101 Tags
Amber List (moderate evidence)	DCC Intellectual disability v9.288	8 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542 Tags structural-variant watchlist
Amber List (moderate evidence)	DCC Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 2 Tags
Amber List (moderate evidence)	DDOST Intellectual disability v9.288	6 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR CDG1R Tags
Amber List (moderate evidence)	DDX39B Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags Q2_25_ NHS_review Q2_25_ promote_green
Amber List (moderate evidence)	DDX53 Intellectual disability v9.288	3 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 Amber Tags deletions promoter
Amber List (moderate evidence)	DENND5A Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Epileptic encephalopathy, early infantile, 49 617281 Tags
Amber List (moderate evidence)	DHDDS Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Retinitis pigmentosa 59, OMIM:613861 ?Congenital disorder of glycosylation, type 1bb, OMIM:613861 Tags
Amber List (moderate evidence)	DHX16 Congenital myopathy v6.45	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neuromuscular disease and ocular or auditory anomalies with or without seizures, OMIM:618733 Tags
Amber List (moderate evidence)	DHX32 Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual disability, spastic diplegia, dystonia, brain abnormalities Tags
Amber List (moderate evidence)	DLAT Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Pyruvate dehydrogenase E2 deficiency, 245348 Tags treatable watchlist
Amber List (moderate evidence)	DLG1 Intellectual disability v9.288	3 reviews 2 red	Not set	Sources Expert Review Amber Tags microdeletion microduplication watchlist
Amber List (moderate evidence)	DLG2 Intellectual disability v9.288	3 reviews 2 red	Not set	Sources Expert Review Amber Tags
Amber List (moderate evidence)	DOCK8 Intellectual disability v9.288	7 reviews 3 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Amber Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Intellectual developmental disorder, autosomal dominant 2, OMIM:614113 Tags
Amber List (moderate evidence)	DONSON Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Expert Review Radboud University Medical Center, Nijmegen Literature Phenotypes Microcephaly, short stature, and limb abnormalities (MIM 617604) Microcephaly, short stature, and limb abnormalities 617604 Microcephaly-micromelia syndrome (MIM 251230) Microcephaly-micromelia syndrome 251230 Tags watchlist
Amber List (moderate evidence)	DPH2 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Diphthamide-deficiency syndrome Tags
Amber List (moderate evidence)	DPM1 Congenital muscular dystrophy v6.8	7 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Amber Emory Genetics Laboratory Phenotypes Congenital disorder of glycosylation, type Ie, OMIM:608799 Tags watchlist
Amber List (moderate evidence)	DPM3 Intellectual disability v9.288	6 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O Tags watchlist
Amber List (moderate evidence)	DPM3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937 DPM3-congenital disorder of glycosylation, MONDO:0013049 ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15, MONDO:0033556 Tags
Amber List (moderate evidence)	DPYSL2 Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes intellectual disability, MONDO:0001071 Aplasia/Hypoplasia of the corpus callosum, HP:0007370 Tags
Amber List (moderate evidence)	DROSHA Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Amber Literature Phenotypes Global developmental delay Intellectual disability Seizures Cerebral white matter atrophy Abnormality of the corpus callosum Abnormality of movement Stereotypic behavior Abnormality of head or neck Short foot Tags gene-checked locus-type-rna-micro
Amber List (moderate evidence)	DST Congenital myopathy v6.45	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes arthrogryposis, MONDO:0859248 cardiomyopathy, MONDO:0004994 congenital myopathy, MONDO:0019952 Tags Q3_25_promote_green
Amber List (moderate evidence)	DYNC1I2 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Expert Review Literature Phenotypes Neurodevelopmental disorder with microcephaly and structural brain anomalies, OMIM:618492 Tags watchlist
Amber List (moderate evidence)	DYSF Congenital muscular dystrophy v6.8	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Miyoshi muscular dystrophy 1, OMIM:254130 Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601 Myopathy, distal, with anterior tibial onset, OMIM:606768 Tags
Amber List (moderate evidence)	EEF1B2 Intellectual disability v9.288	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags deletions watchlist
Amber List (moderate evidence)	EEF1D Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language, OMIM:621150 Tags Q2_25_ NHS_review Q2_25_ promote_green
Amber List (moderate evidence)	EEFSEC Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain abnormalities, OMIM:621102 Tags Q1_25_ promote_green
Amber List (moderate evidence)	EFNB1 Intellectual disability v9.288	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 Amber Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Craniofrontonasal dysplasia, OMIM:304110 Tags
Amber List (moderate evidence)	EHHADH Likely inborn error of metabolism v8.92	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes ?Fanconi renotubular syndrome 3, OMIM:615605 L-bifunctional protein deficiency Metabolic acidosis Increased amino acids in urine Tags
Amber List (moderate evidence)	EIPR1 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags Q1_26_promote_green
Amber List (moderate evidence)	ELFN1 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 Tags Q3_25_promote_green
Amber List (moderate evidence)	EMG1 Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Phenotypes Bowen-Conradi syndrome, 211180 Tags watchlist
Amber List (moderate evidence)	EPB41L1 Intellectual disability v9.288	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes ?Mental retardation, autosomal dominant 11 614257 Tags watchlist
Amber List (moderate evidence)	EPB41L3 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Developmental disorder with seizures and myelination defects Tags Q2_25_ NHS_review Q2_25_ promote_green
Amber List (moderate evidence)	EPHA7 Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Global developmental delay Intellectual disability, MONDO:0001071 Delayed speech and language development Behavioral abnormality Tags watchlist
Amber List (moderate evidence)	ERAL1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Perrault syndrome 6, 617565 Tags
Amber List (moderate evidence)	ERGIC3 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability, MONDO:0001071 Tags watchlist
Amber List (moderate evidence)	EXOC2 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Global developmental delay Intellectual disability Abnormality of the face Abnormality of brain morphology Tags
Amber List (moderate evidence)	EXOC7 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes brain atrophy seizures developmental delay microcephaly Tags watchlist
Amber List (moderate evidence)	EXOSC8 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Pontocerebellar hypoplasia, type 1C, OMIM:616081 Tags founder-effect Q3_25_promote_green
Amber List (moderate evidence)	EXOSC8 Paediatric motor neuronopathies v3.12	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber UKGTN Literature Phenotypes Pontocerebellar hypoplasia, type 1C, OMIM:616081 neuronopathy, distal hereditary motor, MONDO:0000075 Tags
Amber List (moderate evidence)	FAAH2 Intellectual disability v9.288	7 reviews 1 green 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Tags watchlist
Amber List (moderate evidence)	FAM120C Intellectual disability v9.288	3 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 Amber Tags watchlist
Amber List (moderate evidence)	FANCA Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber List (moderate evidence)	FANCC Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber List (moderate evidence)	FANCD2 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber List (moderate evidence)	FANCE Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber List (moderate evidence)	FANCF Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Fanconi anemia, complementation group F, 603467 Tags
Amber List (moderate evidence)	FANCG Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Fanconi anemia, complementation group G, 614082 Tags
Amber List (moderate evidence)	FANCI Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Fanconi anemia, complementation group I, 609053 Tags
Amber List (moderate evidence)	FARSB Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Rajab syndrome, MIM#613658 interstitial lung disease brain calcifications microcephaly intellectual disability Tags
Amber List (moderate evidence)	FBXO22 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Tayoun-Maawali syndrome, OMIM:621184 Tags Q2_25_ NHS_review Q2_25_ promote_green
Amber List (moderate evidence)	FDFT1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Squalene synthase deficiency, 618156 Tags watchlist
Amber List (moderate evidence)	FEM1C Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual disability, MONDO:0001071 Tags
Amber List (moderate evidence)	FGF13 Intellectual disability v9.288	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Phenotypes Developmental and epileptic encephalopathy Intellectual disability Infantile-onset seizures Tags
Amber List (moderate evidence)	FGF14 Intellectual disability v9.288	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spinocerebellar ataxia 27 609307 Tags
Amber List (moderate evidence)	FGFR2 Intellectual disability v9.288	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Antley-Bixler syndrome Apert syndrome Crouzon syndrome Beare-Stevenson Cutis Gyrata syndrome Tags
Amber List (moderate evidence)	FICD Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert review Phenotypes Neonatal diabetes Neonatal insulin-dependent diabetes mellitus, HP:0000857 severe neurodevelopmental delay, HP:0012758 skeletal abnormalities. Tags watchlist
Amber List (moderate evidence)	FLNC Congenital myopathy v6.45	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Myopathy, distal, 4, OMIM:614065 Myopathy, myofibrillar, 5, OMIM:609524 Tags
Amber List (moderate evidence)	FLVCR1 Intellectual disability v9.288	7 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126 Tags Q3_25_promote_green
Amber List (moderate evidence)	FOXP4 Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder multiple congenital abnormalities Tags gene-checked
Amber List (moderate evidence)	FOXR1 Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Global developmental delay, HP:0001263 microcephaly, MONDO:0001149 Brain atrophy, HP:0012444 Tags
Amber List (moderate evidence)	FRAS1 Intellectual disability v9.288	5 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Fraser syndrome 1 219000 Tags
Amber List (moderate evidence)	FREM2 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber List (moderate evidence)	FRRS1L Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber Literature Radboud University Medical Center, Nijmegen Literature Phenotypes Epileptic encephalopathy, early infantile, 37 (MIM 616981) Epileptic encephalopathy, early infantile, 37, 616981 Tags
Amber List (moderate evidence)	FRY Intellectual disability v9.288	4 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags watchlist
Amber List (moderate evidence)	FRYL Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 Tags watchlist
Amber List (moderate evidence)	FTO Intellectual disability v9.288	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Growth retardation, developmental delay, facial dysmorphism 612938 Tags watchlist
Amber List (moderate evidence)	GABBR1 Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with language delay and variable cognitive abnormalities, OMIM:620502 Tags
Amber List (moderate evidence)	GATA6 Intellectual disability v9.288	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Atrioventricular septal defect 5, 614474 Atrial septal defect 9, 614475 Pancreatic agenesis and congenital heart defects, 600001 Persistent truncus arteriosus, 217095 Tetralogy of Fallot, 187500 Tags
Amber List (moderate evidence)	GATC Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Combined oxidative phosphorylation deficiency 42, OMIM:618839 Tags
Amber List (moderate evidence)	GBA Intellectual disability v9.288	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gaucher disease, type I, 230800 Gaucher disease, type II, 230900 Gaucher disease, type III, 231000 Tags new-gene-name
Amber List (moderate evidence)	GBA2 Intellectual disability v9.288	9 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber Phenotypes Spastic paraplegia 46, autosomal recessive, 614409 Tags
Amber List (moderate evidence)	GIGYF1 Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental disorder Tags
Amber List (moderate evidence)	GJB1 Intellectual disability v9.288	8 reviews 1 green 3 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 Amber Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 Tags
Amber List (moderate evidence)	GJB3 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Erythrokeratodermia variabilis et progressiva, 133200 Deafness, autosomal dominant 2B, 612644 Deafness, autosomal recessive Deafness, autosomal dominant, with peripheral neuropathy Deafness, digenic, GJB2/GJB3, 220290 Tags
Amber List (moderate evidence)	GLI3 Intellectual disability v9.288	6 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Amber Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Greig cephalopolysyndactyly syndrome, OMIM:175700 Pallister-Hall syndrome, OMIM:146510 Tags
Amber List (moderate evidence)	GLS Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 Developmental and epileptic encephalopathy 71, OMIM:618328 ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339 Tags STR watchlist watchlist_moi
Amber List (moderate evidence)	GMNN Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Literature Phenotypes Meier-Gorlin syndrome 6, OMIM:616835 Tags watchlist
Amber List (moderate evidence)	GNE Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Sialuria, MIM#269921 Tags
Amber List (moderate evidence)	GON4L Intellectual disability v9.288	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Li-Takada-Miyake syndrome, OMIM:621212 Li-Takada-Miyake syndrome, MONDO:0978303 Tags
Amber List (moderate evidence)	GOT2 Intellectual disability v9.288	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Epileptic encephalopathy, early infantile, 82, OMIM:618721 Developmental and epileptic encephalopathy, 82, MONDO:0032880 Tags treatable
Amber List (moderate evidence)	GPATCH11 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags Q1_25_ promote_green
Amber List (moderate evidence)	GPSM2 Intellectual disability v9.288	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Chudley-McCullough syndrome, 604213 Tags
Amber List (moderate evidence)	GSS Intellectual disability v9.288	5 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Glutathione synthetase deficiency Hemolytic anemia due to glutathione synthetase deficiency 231900 Tags
Amber List (moderate evidence)	GSX2 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 2 618646 Intellectual disability Dystonia Spastic tetra paresis Tags
Amber List (moderate evidence)	GTF2I Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags Q1_26_promote_green
Amber List (moderate evidence)	GTF3C3 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Literature Phenotypes Global developmental delay Intellectual disability Seizures Tags Q1_25_ promote_green
Amber List (moderate evidence)	GUK1 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial DNA depletion syndrome 21, OMIM:621071 mitochondrial dna depletion syndrome 21, MONDO:0976132 Tags Q3_25_promote_green
Amber List (moderate evidence)	GUK1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial DNA depletion syndrome 21, OMIM:621071 Tags Q3_25_promote_green
Amber List (moderate evidence)	HADHB Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Trifunctional protein deficiency, MIM#609015 Tags
Amber List (moderate evidence)	HARS Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes multisystem ataxic syndrome mild-severe intellectual disability Tags new-gene-name
Amber List (moderate evidence)	HAX1 Intellectual disability v9.288	6 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Neutropenia, severe congenital 3, autosomal recessive, 610738 Tags watchlist
Amber List (moderate evidence)	HEATR3 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Anemia Thrombocytopenia Growth delay Short stature Abnormality of the skeletal system Abnormality of finger Abnormality of the thumb Intellectual disability Obesity Abnormality of the face Tags
Amber List (moderate evidence)	HEATR5B Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes pontocerebellar hypoplasia, MONDO:0020135 intellectual disability, MONDO:0001071 seizures Tags watchlist
Amber List (moderate evidence)	HINT1 Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Neuromyotonia and axonal neuropathy, autosomal recessive, OMIM:137200 Gamstorp-Wohlfart syndrome, MONDO:0007646 Tags
Amber List (moderate evidence)	HIRA Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder Tags watchlist
Amber List (moderate evidence)	HIST1H4I Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Tessadori-van Haaften neurodevelopmental syndrome 4, OMIM:619951 Tessadori-Van Haaften neurodevelopmental syndrome 4, MONDO:0031000 Tags new-gene-name
Amber List (moderate evidence)	HIST1H4J Intellectual disability v9.288	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes ?Tessadori-van Haaften neurodevelopmental syndrome 2 , OMIM:619759 Tags watchlist
Amber List (moderate evidence)	HNF1B Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Renal cysts and diabetes syndrome, 137920 Diabetes mellitus, noninsulin-dependent, 125853 {Renal cell carcinoma}, 144700 Tags
Amber List (moderate evidence)	HNRNPA1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Other Phenotypes Myopathy, distal, 3 , OMIM:610099 distal myopathy, MONDO:0018949 Tags Q4_25_promote_green
Amber List (moderate evidence)	HNRNPA1 Distal myopathies v6.16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Other Phenotypes Myopathy, distal, 3 , OMIM:610099 distal myopathy, MONDO:0018949 Tags Q4_25_promote_green
Amber List (moderate evidence)	HNRNPC Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, autosomal dominant 74, OMIM:620688 Tags Q1_25_ promote_green
Amber List (moderate evidence)	HNRNPD Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental disorders Tags watchlist
Amber List (moderate evidence)	HPDL Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:619026 Spastic paraplegia 83, autosomal recessive OMIM:619027 Tags gene-checked Q2_25_ promote_green
Amber List (moderate evidence)	HS2ST1 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability dysmorphic features congenital anomalies Tags watchlist
Amber List (moderate evidence)	HSD11B2 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber ClinGen Phenotypes Apparent mineralocorticoid excess, OMIM:218030 apparent mineralocorticoid excess, MONDO:0009025 Tags Q3_25_promote_green
Amber List (moderate evidence)	HSPB1 Paediatric motor neuronopathies v3.12	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Phenotypes Neuropathy, distal hereditary motor, type IIB, OMIM:608634 Charcot-Marie-Tooth disease, axonal, type 2F, OMIM:606595 Tags
Amber List (moderate evidence)	HSPB8 Paediatric motor neuronopathies v3.12	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Phenotypes Neuropathy, distal hereditary motor, type IIA, OMIM:158590 Tags
Amber List (moderate evidence)	HSPG2 Intellectual disability v9.288	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Schwartz-Jampel syndrome, type 1, OMIM:255800 Schwartz-Jampel syndrome, MONDO:0009717 Tags
Amber List (moderate evidence)	HTT Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Lopes-Maciel-Rodan syndrome, OMIM:617435 LOMARS Tags watchlist
Amber List (moderate evidence)	IDH1 Likely inborn error of metabolism v8.92	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria OMIM:614875 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria, MONDO:0013941 Maffucci syndrome, OMIM:614569 Maffucci syndrome, MONDO:0013808 Ollier disease/ Dyschondroplasia, OMIM:166000 Ollier disease, MONDO:0008145 Tags mosaicism Q2_25_ promote_green
Amber List (moderate evidence)	IDH3A Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Retinitis pigmentosa 90, OMIM:619007 retinitis pigmentosa 90, MONDO:0033563 Tags Q2_25_ promote_green
Amber List (moderate evidence)	IFT27 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Bardet-Biedl syndrome 19, OMIM:615996 Tags
Amber List (moderate evidence)	IFT43 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cranioectodermal dysplasia 3, 614099 Tags
Amber List (moderate evidence)	IL1RAPL2 Intellectual disability v9.288	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Phenotypes X-linked non-syndromic mental retardation loci Tags deletions
Amber List (moderate evidence)	INPP4A Intellectual disability v9.288	7 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags Q1_25_ promote_green
Amber List (moderate evidence)	IPO8 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes VISS syndrome, OMIM:619472 VISS syndrome, MONDO:0859177 Tags
Amber List (moderate evidence)	IQSEC1 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Central hypotonia Global developmental delay Intellectual disability Behavioral abnormality Short stature Intellectual developmental disorder with short stature and behavioral abnormalities, 618687 Tags watchlist
Amber List (moderate evidence)	15q11.2 recurrent region (BP1-BP2) (includes NIPA1) Loss ISCA-37448-Loss Region Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber ClinGen Phenotypes Developmental delay/intellectual disability, epilepsy, autism spectrum disorder, schizophrenia, congenital heart disease, and variable dysmorphic features Tags Q3_25_promote_green
Amber List (moderate evidence)	11q13.2q13.4 recurrent region (includes SHANK2, FGFs) Loss ISCA-37498-Loss Region Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber ClinGen Phenotypes Developmental delay/intellectual disability, dysmorphic features, dental anomalies, long slender fingers with 5th finger clinodactyly, and additional clinical features Tags Q3_25_promote_green
Amber List (moderate evidence)	15q24 recurrent region (LCR A-LCR C) Loss ISCA-46296-Loss Region Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber ClinGen Phenotypes Developmental delays, intellectual disability, brain anomalies, non-specific craniofacial abnormalities, hypotonia, ocular abnormalities, hearing loss, and other variable clinical features Tags Q3_25_promote_green
Amber List (moderate evidence)	15q24 recurrent region (LCR C-LCR D) (includes SIN3A) Loss ISCA-46300-Loss Region Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber ClinGen Phenotypes Developmental delays/intellectual disability, brain anomalies, craniofacial abnormalities, hypermobile joints, digital findings, and other variable clinical features Tags Q3_25_promote_green
Amber List (moderate evidence)	ISCA2 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 4, 616370 Tags founder-effect
Amber List (moderate evidence)	ITFG2 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental abnormality Intellectual disability Developmental regression Ataxia Tags
Amber List (moderate evidence)	ITGA7 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber List (moderate evidence)	ITGAV Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes syndromic disease, MONDO:0002254 Tags
Amber List (moderate evidence)	JAKMIP1 Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual disability, MONDO:0001071 seizures Tags watchlist
Amber List (moderate evidence)	JKAMP Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags Q1_26_promote_green
Amber List (moderate evidence)	JMJD1C Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Phenotypes Intellectual disability Autism Tags watchlist
Amber List (moderate evidence)	KATNB1 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Literature Phenotypes Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534 Tags
Amber List (moderate evidence)	KCNA1 Intellectual disability v9.288	5 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Episodic ataxia/myokymia syndrome, OMIM:160120 Tags
Amber List (moderate evidence)	KCNC3 Intellectual disability v9.288	6 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Spinocerebellar ataxia 13, OMIM:605259 MONDO:0011529 Tags
Amber List (moderate evidence)	KCND3 Intellectual disability v9.288	8 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spinocerebellar ataxia 19, OMIM: 607346 spinocerebellar ataxia type 19/22, MONDO:0011819 Tags
Amber List (moderate evidence)	KCNK4 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert Review Literature Phenotypes Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome, 618381 Tags watchlist
Amber List (moderate evidence)	KDM2A Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags Q1_26_promote_green
Amber List (moderate evidence)	KIAA0391 Likely inborn error of metabolism v8.92	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Literature Phenotypes Combined oxidative phosphorylation deficiency 54, OMIM:619737 Tags new-gene-name Q2_25_ promote_green
Amber List (moderate evidence)	KIAA0556 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature ClinGen Phenotypes Joubert syndrome 26, OMIM:616784 Joubert syndrome 26, MONDO:0014771 Tags new-gene-name Q3_25_promote_green
Amber List (moderate evidence)	KIF26A Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Cortical dysplasia, complex, with other brain malformations 11, OMIM:620156 cortical dysplasia, complex, with other brain malformations 11 MONDO:0859332 Tags
Amber List (moderate evidence)	KIF5B Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes kyphomelic dysplasia, MONDO:0008881 intellectual disability, MONDO:0001071 Tags gene-checked watchlist
Amber List (moderate evidence)	KLHL15 Intellectual disability v9.288	3 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert Review Amber Phenotypes Mental retardation, X-linked 103, 300982 MRX103 Intellectual disability Tags deletions
Amber List (moderate evidence)	LAMB2 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Pierson syndrome, MIM#609049 Tags
Amber List (moderate evidence)	LAMP2 Congenital myopathy v6.45	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 NHS GMS London South GLH Expert Review Amber Expert Review Phenotypes Danon disease, OMIM:300257 Tags
Amber List (moderate evidence)	LARS2 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Perrault syndrome 4, OMIM:615300 Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021 Leukodystrophy Tags
Amber List (moderate evidence)	LAS1L Intellectual disability v9.288	5 reviews 1 green 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Wilson-Turner syndrome 309585 Tags watchlist
Amber List (moderate evidence)	LDB1 Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Congenital hydrocephalus, MONDO:0016349 Tags gene-checked Q4_25_promote_green
Amber List (moderate evidence)	LDHD Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes D-lactic aciduria with susceptibility to gout, OMIM:245450 lactic aciduria due to D-lactic acid, MONDO:0009505 Tags
Amber List (moderate evidence)	LIG3 Likely inborn error of metabolism v8.92	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 20 (MNGIE type), OMIM:619780 Tags Q2_25_ promote_green
Amber List (moderate evidence)	LINGO1 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Literature Phenotypes Mental retardation, autosomal recessive 64 (MIM 618103) Tags watchlist
Amber List (moderate evidence)	LIPC Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Hepatic lipase deficiency, 614025 [High density lipoprotein cholesterol level QTL 12] 612797 {Diabetes mellitus, noninsulin-dependent} 125853 Tags
Amber List (moderate evidence)	LIPT2 Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Amber Literature Phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 Tags watchlist
Amber List (moderate evidence)	LMAN2L Intellectual disability v9.288	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Intellectual disability epilepsy Tags watchlist
Amber List (moderate evidence)	LMBRD1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Methylmalonic aciduria and homocystinuria, cblF type, 277380 Tags
Amber List (moderate evidence)	LMNA Intellectual disability v9.288	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Emery-Dreifuss muscular dystrophy 2, AD, 181350 Cardiomyopathy, dilated, 1A, 115200 Lipodystrophy, familial partial, 2, 151660 Emery-Dreifuss muscular dystrophy 3, AR, 181350 Charcot-Marie-Tooth disease, type 2B1, 605588 Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb-girdle, type 1B, 159001 Mandibuloacral dysplasia, 248370 Hutchinson-Gilford progeria, 176670 Restrictive dermopathy, lethal, 275210 Heart-hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112 Tags
Amber List (moderate evidence)	LMNB2 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Microcephaly 27, primary, autosomal dominant, OMIM:619180 Tags
Amber List (moderate evidence)	LNPK Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Generalized hypotonia Global developmental delay Intellectual disability Seizures Hypoplasia of the corpus callosum Abnormality of the cerebellum Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090 Tags watchlist
Amber List (moderate evidence)	LRIF1 Distal myopathies v6.16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Facioscapulohumeral muscular dystrophy Tags
Amber List (moderate evidence)	LRIF1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Facioscapulohumeral muscular dystrophy Tags
Amber List (moderate evidence)	LRP5 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Osteoporosis-pseudoglioma syndrome, 259770 Tags
Amber List (moderate evidence)	LRRC32 Intellectual disability v9.288	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619074 Tags founder-effect
Amber List (moderate evidence)	LRRC45 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes ciliopathy, MONDO:0005308 Abnormal brain morphology, HP:0012443 neurodevelopmental disorder, MONDO:0700092 Tags Q4_25_promote_green
Amber List (moderate evidence)	LRRC8C Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes TIMES syndrome, OMIM:621056 Tags
Amber List (moderate evidence)	LSM1 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes FICUS syndrome, OMIM:621193 FICUS syndrome, MONDO:0978296 Tags Q1_26_promote_green
Amber List (moderate evidence)	LSM7 Intellectual disability v9.288	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, MONDO:0019046 Tags watchlist
Amber List (moderate evidence)	LZTFL1 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Bardet-Biedl syndrome 17, MIM#615994 Tags
Amber List (moderate evidence)	MAG Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic paraplegia 75, autosomal recessive, OMIM:616680 hereditary spastic paraplegia 75, MONDO:0014729 Tags Q1_25_ promote_green
Amber List (moderate evidence)	MAL Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes developmental delay nystagmus progressive motor deterioration dysmyelination Tags
Amber List (moderate evidence)	MAN2B2 Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation type 1EE with or without immunodeficiency, OMIM:621140 Tags Q2_25_ NHS_review Q2_25_ promote_green
Amber List (moderate evidence)	MAP4K4 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber DD-Gene2Phenotype Literature Phenotypes MAP4K4-related neurodevelopmental disorder with/without congenital anomalies multiple congenital anomalies neurodevelopmental differences Tags gene-checked Q2_25_ promote_green
Amber List (moderate evidence)	MAPK10 Intellectual disability v9.288	6 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert Review Amber Phenotypes Lennox-Gastaut syndrome LGS Epileptic Encephalopathy Epileptic Encephalopathy Lennox-Gastaut type Tags watchlist
Amber List (moderate evidence)	MED12L Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Nizon-Isidor syndrome, OMIM:618872 Nizon-Isidor syndrome, MONDO:0030030 Tags Q3_25_promote_green
Amber List (moderate evidence)	MED16 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Guillouet-Gordon syndrome, OMIM:621220 Tags Q3_25_NHS_review Q3_25_promote_green
Amber List (moderate evidence)	MIR17HG Intellectual disability v9.288	6 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert Review Phenotypes Feingold syndrome 2, 614326 FS2 Brachydactyly with short stature and microcephaly Intellectual disability Tags deletions locus-type-rna-long-non-coding watchlist
Amber List (moderate evidence)	MKL2 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags
Amber List (moderate evidence)	MMGT1 Intellectual disability v9.288	3 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Developmental disorders Tags gene-checked
Amber List (moderate evidence)	MPV17 Intellectual disability v9.288	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 Tags
Amber List (moderate evidence)	MRPL39 Likely inborn error of metabolism v8.92	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 59, OMIM:620646 Tags Q2_25_ promote_green
Amber List (moderate evidence)	MRPL49 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined oxidative phosphorylation deficiency 60, OMIM:621195 combined oxidative phosphorylation deficiency, MONDO:0000732 Tags Q2_25_ promote_green
Amber List (moderate evidence)	MRPL49 Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined oxidative phosphorylation deficiency 60, OMIM:621195 combined oxidative phosphorylation deficiency, MONDO:0000732 Tags Q2_25_ promote_green
Amber List (moderate evidence)	MRPS14 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes ?Combined oxidative phosphorylation deficiency 38, OMIM:618378 Tags
Amber List (moderate evidence)	MRPS16 Likely inborn error of metabolism v8.92	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 2 610498 Tags
Amber List (moderate evidence)	MRPS7 Likely inborn error of metabolism v8.92	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Amber List (moderate evidence)	MT-RNR2 Likely inborn error of metabolism v8.92	3 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Amber Tags locus-type-rna-ribosomal
Amber List (moderate evidence)	MT-TA Congenital myopathy v6.45	2 reviews	MITOCHONDRIAL	Sources Expert Review Amber Literature Phenotypes inborn mitochondrial myopathy, MONDO:0009637 Tags locus-type-rna-transfer
Amber List (moderate evidence)	MT-TG Congenital myopathy v6.45	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Amber Literature Phenotypes mitochondrial encephalomyopathy, MONDO:0004675 Tags locus-type-rna-transfer
Amber List (moderate evidence)	MT-TP Congenital myopathy v6.45	2 reviews	MITOCHONDRIAL	Sources Expert Review Amber Literature Phenotypes inborn mitochondrial myopathy, MONDO:0009637 Tags locus-type-rna-transfer
Amber List (moderate evidence)	MTMR14 Congenital myopathy v6.45	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Expert Review Amber Expert Review Phenotypes {Centronuclear myopathy, autosomal, modifier of}, OMIM:160150 Tags watchlist
Amber List (moderate evidence)	MYBPC3 Congenital myopathy v6.45	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Amber Expert Review Phenotypes Cardiomyopathy, dilated, 1MM, OMIM:615396 Cardiomyopathy, hypertrophic, 4, OMIM:115197 Tags watchlist
Amber List (moderate evidence)	MYF5 Congenital myopathy v6.45	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert list Phenotypes Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155 Tags
Amber List (moderate evidence)	MYH1 Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes rhabdomyolysis, MONDO:0005290 Tags
Amber List (moderate evidence)	NAA20 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, autosomal recessive 73, OMIM:619717 Tags Q1_25_ promote_green
Amber List (moderate evidence)	NAGS Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes N-acetylglutamate synthase deficiency, 237310 Tags
Amber List (moderate evidence)	NAV3 Intellectual disability v9.288	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes recessive neurodevelopmental disorder Tags Q1_25_ promote_green
Amber List (moderate evidence)	NBAS Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 Tags
Amber List (moderate evidence)	NBN Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber List (moderate evidence)	NCAPD2 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Microcephaly 21, primary, autosomal recessive, OMIM #617983 Tags watchlist
Amber List (moderate evidence)	NCAPG2 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Khan-Khan-Katsanis syndrome, MIM# 618460 Tags
Amber List (moderate evidence)	NDUFAF1 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mitochondrial complex I deficiency, nuclear type 11, MIM#618234 Tags watchlist
Amber List (moderate evidence)	NDUFAF2 Intellectual disability v9.288	5 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber Phenotypes Leigh syndrome 256000 Mitochondrial complex I deficiency 252010 Tags
Amber List (moderate evidence)	NDUFAF5 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Literature Phenotypes Mitochondrial complex 1 deficiency, 618238 Tags
Amber List (moderate evidence)	NDUFB7 Likely inborn error of metabolism v8.92	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135 Tags Q1_25_ promote_green
Amber List (moderate evidence)	NDUFB9 Likely inborn error of metabolism v8.92	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes ?Mitochondrial complex I deficiency, nuclear type 24 618245 Tags
Amber List (moderate evidence)	NECAP1 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Epileptic encephalopathy, early infantile 21, 615833 Tags
Amber List (moderate evidence)	NEFL Congenital myopathy v6.45	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber UCL Phenotypes Nemaline Myopathy Tags watchlist
Amber List (moderate evidence)	NFIB Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Expert Review Phenotypes Macrocephaly, acquired, with impaired intellectual development, OMIM:618286 Tags Autism Spectrum Disorder watchlist
Amber List (moderate evidence)	NHLRC2 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes FINCA syndrome, OMIM:618278 Tags gene-checked Q1_25_ promote_green
Amber List (moderate evidence)	NHP2 Intellectual disability v9.288	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Gene2Phenotype Phenotypes Dyskeratosis congenita, autosomal recessive 2, 613987 Høyeraal-Hreidarsson syndrome Tags
Amber List (moderate evidence)	NOTCH3 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags dd_review Q3_25_promote_green
Amber List (moderate evidence)	NPHP3 Intellectual disability v9.288	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Nephronophthisis 3, 604387 Renal-hepatic-pancreatic dysplasia 1, 208540 Meckel syndrome 7, 267010 Tags
Amber List (moderate evidence)	NT5C3A Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Anemia, hemolytic, due to UMPH1 deficiency, 266120 Tags
Amber List (moderate evidence)	NUP107 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME Tags
Amber List (moderate evidence)	NUP188 Intellectual disability v9.288	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Sandestig-Stefanova syndrome, 618804 Tags
Amber List (moderate evidence)	NUP62 Intellectual disability v9.288	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Striatonigral degeneration, infantile, 271930 Intellectual disability Tags founder-effect
Amber List (moderate evidence)	NUP85 Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH-SCKS) Tags
Amber List (moderate evidence)	NYX Intellectual disability v9.288	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Night blindness, congenital stationary (complete), 1A, X-linked, 310500 Tags
Amber List (moderate evidence)	OPA1 Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Optic atrophy plus syndrome, OMIM: 125250 Tags Q1_25_ promote_green
Amber List (moderate evidence)	OPLAH Likely inborn error of metabolism v8.92	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes 5-oxoprolinase deficiency 260005 Tags
Amber List (moderate evidence)	PAICS Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859 Tags Q1_26_promote_green
Amber List (moderate evidence)	PAM16 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, MIM#613320 Tags founder-effect watchlist
Amber List (moderate evidence)	PARP6 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual disability Epilepsy Microcephaly Tags watchlist
Amber List (moderate evidence)	PAX1 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Literature Phenotypes Otofaciocervical syndrome 2, 615560 Tags
Amber List (moderate evidence)	PCBP2 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags
Amber List (moderate evidence)	PDCD6IP Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes microcephaly Intellectual disability Tags
Amber List (moderate evidence)	PDE10A Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Dyskinesia, limb and orofacial, infantile-onset, MIM#616921 Tags
Amber List (moderate evidence)	PDE12 Likely inborn error of metabolism v8.92	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes mitochondrial disease, MONDO:0044970 Tags Q3_25_promote_green
Amber List (moderate evidence)	PDE1B Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes movement disorder, MONDO:0005395 intellectual disability, MONDO:0001071 Tags
Amber List (moderate evidence)	PDE6D Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Joubert syndrome 22 - MIM 615665 Tags
Amber List (moderate evidence)	PDP1 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Pyruvate dehydrogenase phosphatase deficiency, MIM#608782 Tags
Amber List (moderate evidence)	PET117 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063 Tags
Amber List (moderate evidence)	PHF12 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber ClinGen Phenotypes complex neurodevelopmental disorder, MONDO:0100038 Tags Q1_26_NHS_review Q1_26_promote_green
Amber List (moderate evidence)	PHF14 Intellectual disability v9.288	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Amber Expert list Literature Phenotypes Autism Tags
Amber List (moderate evidence)	PHF5A Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes PHF5A-related neurodevelopmental disorder with congenital malformations Tags Q1_26_promote_green
Amber List (moderate evidence)	PIK3C2A Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Oculoskeletodental syndrome, 618440 Tags
Amber List (moderate evidence)	PISD Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes intellectual disability cataract microcephaly deafness skeletal dysplasia Tags watchlist
Amber List (moderate evidence)	PITRM1 Likely inborn error of metabolism v8.92	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Spinocerebellar ataxia, autosomal recessive 30, OMIM:619405 Tags gene-checked Q2_25_ promote_green
Amber List (moderate evidence)	PJA1 Intellectual disability v9.288	5 reviews 3 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 Amber Phenotypes Craniofrontonasal syndrome CFNS Intellectual disability Tags founder-effect
Amber List (moderate evidence)	PLA2G16 Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Associated with Lipodystrophy, familial partial, type 9, OMIM:620683 lipodystrophy, familial partial, type 9, MONDO:0958034 Tags new-gene-name
Amber List (moderate evidence)	PLAT Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags
Amber List (moderate evidence)	PLXNA2 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Literature Phenotypes Intellectual disability, MONDO:0001071 Abnormality of the face Failure to thrive Abnormal heart morphology Tags watchlist
Amber List (moderate evidence)	PMPCA Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 2 (MIM 213200) Tags
Amber List (moderate evidence)	PNPLA8 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Mitochondrial myopathy with lactic acidosis, OMIM:251950 mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO:0016825 Tags Q1_25_ promote_green
Amber List (moderate evidence)	PNPO Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Pyridoxamine 5'-phosphate oxidase deficiency, 610090 Neonatal epileptic encephalopathy Global developmental delay Tags treatable
Amber List (moderate evidence)	POC5 Rhabdomyolysis and metabolic muscle disorders v5.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Retinal dystrophy diabetes mellitus lipodystrophy renal failure abnormal muscle physiology muscle cramps Tags dd_review Q3_25_promote_green
Amber List (moderate evidence)	POGLUT1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Expert list Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232 autosomal recessive limb-girdle muscular dystrophy type 2R1, MONDO:0014977 Tags
Amber List (moderate evidence)	POLRMT Likely inborn error of metabolism v8.92	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 55, OMIM:619743 Tags Q2_25_ promote_green
Amber List (moderate evidence)	POMK Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249 Tags
Amber List (moderate evidence)	POU1F1 Intellectual disability v9.288	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038 Tags
Amber List (moderate evidence)	PPA2 Congenital myopathy v6.45	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Expert Review Phenotypes Sudden cardiac failure, infantile, OMIM:617222 Tags
Amber List (moderate evidence)	PPFIA3 Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Paul-Chao neurodevelopmental syndrome, OMIM:621122 Tags Q1_26_promote_green watchlist_moi
Amber List (moderate evidence)	PPOX Intellectual disability v9.288	5 reviews 2 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Variegate porphyria, childhood-onset, OMIM:620483 variegate porphyria, MONDO:0008297 Tags Q3_25_promote_green
Amber List (moderate evidence)	PPP2R2B Intellectual disability v9.288	4 reviews 2 green 1 red	Other	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes neurodevelopmental syndrome Tags Q1_25_ promote_green
Amber List (moderate evidence)	PPP2R5C Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Houge-Janssens syndrome 4, OMIM:621185 Tags Q1_25_ promote_green
Amber List (moderate evidence)	PRKACB Intellectual disability v9.288	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Cardioacrofacial dysplasia 2, OMIM:619143 Tags watchlist
Amber List (moderate evidence)	PRKD1 Intellectual disability v9.288	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Congenital heart defects and ectodermal dysplasia 617364 Tags
Amber List (moderate evidence)	PRMT9 Intellectual disability v9.288	5 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags Q1_26_promote_green
Amber List (moderate evidence)	PRODH Intellectual disability v9.288	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Hyperprolinemia, type I, OMIM:239500 {Schizophrenia, susceptibility to, OMIM:4}, 600850 Tags
Amber List (moderate evidence)	PRRT2 Intellectual disability v9.288	7 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Epilepsy mental retardation movement disorders paroxysmal disorder Autosomal recessive mental retardation Tags watchlist
Amber List (moderate evidence)	PSMB8 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 Tags
Amber List (moderate evidence)	PSPH Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Amber Phenotypes Phosphoserine phosphatase deficiency 614023 Tags
Amber List (moderate evidence)	PTBP1 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 Tags Q3_25_promote_green
Amber List (moderate evidence)	PTH1R Intellectual disability v9.288	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Metaphyseal chondrodysplasia, Murk Jansen type, 156400 Chondrodysplasia, Blomstrand type, 215045 Eiken syndrome, 600002 Failure of tooth eruption, primary, 125350 Tags
Amber List (moderate evidence)	PTHLH Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Humoral hypercalcemia of malignancy Brachydactyly, type E2, 613382 Tags
Amber List (moderate evidence)	PTPA Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability, MONDO:0001071 Tags
Amber List (moderate evidence)	PTPMT1 Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags watchlist
Amber List (moderate evidence)	PTRH2 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Expert Review Radboud University Medical Center, Nijmegen Literature Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1, MONDO:8000012 Tags Q1_25_ promote_green watchlist
Amber List (moderate evidence)	QARS Likely inborn error of metabolism v8.92	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760 Tags new-gene-name Q2_25_ promote_green
Amber List (moderate evidence)	RAB14 Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental disorders Tags
Amber List (moderate evidence)	RAB3A Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Research Phenotypes RAB3A associated cerebellar ataxia pyramidal features neurodevelopmental delay Tags
Amber List (moderate evidence)	RAD51 Intellectual disability v9.288	5 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group R, OMIM:617244 Tags
Amber List (moderate evidence)	RANBP2 Likely inborn error of metabolism v8.92	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Acute necrotizing encephalopathy (Other metabolic disorders) Tags
Amber List (moderate evidence)	RAP1GDS1 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability dysmorphic features Tags founder-effect
Amber List (moderate evidence)	RAX Intellectual disability v9.288	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Microphthalmia, isolated 3, OMIM:611038 isolated microphthalmia 3, MONDO:0012604 Tags
Amber List (moderate evidence)	RBPJ Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert Review Amber Phenotypes Adams-Oliver syndrome 3, 614814 Tags
Amber List (moderate evidence)	REEP1 Paediatric motor neuronopathies v3.12	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Radboud University Medical Center, Nijmegen Phenotypes ?Neuronopathy, distal hereditary motor, type VB, OMIM:614751 Tags
Amber List (moderate evidence)	RHEB Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Other Phenotypes short stature, macrocephaly, intellectual disability and autism spectrum disorder Tags watchlist
Amber List (moderate evidence)	RIC1 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes CATIFA syndrome 618761 Cleft lip cataract tooth abnormality intellectual disability facial dysmorphism ADHD Tags founder-effect watchlist
Amber List (moderate evidence)	RMRP Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cartilage-hair hypoplasia, 250250 Metaphyseal dysplasia without hypotrichosis, 250460 Anauxetic dysplasia, 607095 Tags locus-type-rna-long-non-coding
Amber List (moderate evidence)	RNASET2 Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Amber Phenotypes Intellectual disability RNASET2-deficient cystic leukoencephalopathy (Disorders of nucleotide metabolism) Inherited white matter disorders Tags
Amber List (moderate evidence)	RNF220 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Literature Phenotypes Intellectual disability, MONDO:0001071 Tags
Amber List (moderate evidence)	RNPC3 Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Phenotypes Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160 Tags gene-checked watchlist
Amber List (moderate evidence)	RNU2-2P Intellectual disability v9.288	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags dd_review locus-type-rna-small-nuclear new-gene-name Q2_25_ promote_green
Amber List (moderate evidence)	RNU4ATAC Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Lowry-Wood syndrome, OMIM:226960 Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710 Roifman syndrome, OMIM:616651 Tags locus-type-rna-small-nuclear
Amber List (moderate evidence)	RNU5B-1 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302 RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity, MONDO:1060179 Tags dd_review gene-checked locus-type-rna-small-nuclear Q3_25_promote_green
Amber List (moderate evidence)	RPS23 Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Amber Literature Phenotypes Brachycephaly, trichomegaly, and developmental delay 617412 Tags watchlist
Amber List (moderate evidence)	RPS6KC1 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags Q1_26_promote_green
Amber List (moderate evidence)	RREB1 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes RASopathy, MONDO:0021060 Tags Q3_25_NHS_review Q3_25_promote_green
Amber List (moderate evidence)	RSF1 Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags Q1_26_promote_green
Amber List (moderate evidence)	RSPRY1 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Phenotypes Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723 Tags Q1_25_ promote_green
Amber List (moderate evidence)	RUNX1T1 Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags
Amber List (moderate evidence)	RUSC2 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mental retardation, autosomal recessive 61 617773 Tags
Amber List (moderate evidence)	RYR1 Likely inborn error of metabolism v8.92	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Rhabdomyolysis and metabolic muscle disorders Tags
Amber List (moderate evidence)	RYR2 Intellectual disability v9.288	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	SACS Intellectual disability v9.288	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 Autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS Intellectual disability Tags
Amber List (moderate evidence)	SALL1 Intellectual disability v9.288	5 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Townes-Brocks branchiootorenal-like syndrome, 107480 Townes-Brocks syndrome 1, 107480 TBS Tags
Amber List (moderate evidence)	SCN1B Intellectual disability v9.288	8 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Phenotypes Developmental and epileptic encephalopathy 52, OMIM:617350 Developmental and epileptic encephalopathy, 52, MONDO:0033361 Tags
Amber List (moderate evidence)	SDHAF2 Likely inborn error of metabolism v8.92	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Expert Review Amber Phenotypes Mitochondrial Diseases Isolated complex II deficiency Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Neuro-endocrine Tumours- PCC and PGL Multiple endocrine tumours Multiple Tumours Tags
Amber List (moderate evidence)	SDHC Likely inborn error of metabolism v8.92	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Amber Phenotypes Mitochondrial Diseases Isolated complex II deficiency Neuro-endocrine Tumours- PCC and PGL Multiple endocrine tumours Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Multiple Tumours Tags
Amber List (moderate evidence)	SEC31A Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 618651 Tags
Amber List (moderate evidence)	SEL1L Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia, OMIM:621068 ?Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, OMIM:621067 Tags Q2_25_ NHS_review Q2_25_ promote_green
Amber List (moderate evidence)	SETX Paediatric motor neuronopathies v3.12	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433 Tags
Amber List (moderate evidence)	SF1 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags Q3_25_NHS_review Q3_25_promote_green
Amber List (moderate evidence)	SGSM3 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags founder-effect
Amber List (moderate evidence)	SHROOM4 Intellectual disability v9.288	4 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Amber Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Stocco dos Santos X-linked mental retardation syndrome, 300434 Intellectual disability Tags
Amber List (moderate evidence)	SLC12A9 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects neurodevelopmental disorder, MONDO:0700092 Tags Q1_26_promote_green
Amber List (moderate evidence)	SLC25A24 Likely inborn error of metabolism v8.92	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Expert list Phenotypes Fontaine progeroid syndrome, OMIM:612289 Fontaine progeroid syndrome, MONDO:0012853 Tags Q2_25_ promote_green
Amber List (moderate evidence)	SLC25A26 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY Tags
Amber List (moderate evidence)	SLC25A36 Likely inborn error of metabolism v8.92	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes Hyperinsulinemic hypoglycemia, familial, 8, OMIM:620211 Tags Q2_25_ promote_green
Amber List (moderate evidence)	SLC25A38 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 Tags
Amber List (moderate evidence)	SLC25A42 Congenital myopathy v6.45	5 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416 Tags watchlist
Amber List (moderate evidence)	SLC26A2 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Diastrophic dysplasia, 222600 Atelosteogenesis II, 256050 Achondrogenesis Ib, 600972 Epiphyseal dysplasia, multiple, 4, 226900 Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 De la Chapelle dysplasia, 256050 Tags
Amber List (moderate evidence)	SLC27A4 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ichthyosis prematurity syndrome, 608649 Tags
Amber List (moderate evidence)	SLC2A2 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes {Diabetes mellitus, noninsulin-dependent}, 135853 Fanconi-Bickel syndrome, 227810 Tags
Amber List (moderate evidence)	SLC31A1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 Tags
Amber List (moderate evidence)	SLC35A3 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553 Tags watchlist
Amber List (moderate evidence)	SLC35B2 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Abnormality of the skeletal system Short long bone Short stature Abnormality of epiphysis morphology Scoliosis Multiple joint dislocation Global develpmental delay Intellectual disability CNS hypomyelination Abnormality of the corpus callosum Cerebral atrophy Abnormality of the amniotic fluid Tags
Amber List (moderate evidence)	SLC35D1 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Schneckenbecken dysplasia, 269250 Tags
Amber List (moderate evidence)	SLC39A13 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350 Tags
Amber List (moderate evidence)	SLC45A1 Intellectual disability v9.288	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Other Phenotypes Intellectual developmental disorder with neuropsychiatric features, 617532 Tags
Amber List (moderate evidence)	SLC4A1 Intellectual disability v9.288	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ovalocytosis Spherocytosis, type 4, 612653 [Malaria, resistance to], 611162 Renal tubular acidosis, distal, AD, 179800 Renal tubular acidosis, distal, AR, 611590 [Blood group, Diego], 110500 [Blood group, Waldner], 112010 [Blood group, Wright], 112050 [Blood group, Froese], 601551 [Blood group, Swann], 601550 Tags
Amber List (moderate evidence)	SLC4A11 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Corneal endothelial dystrophy 2, autosomal recessive, 217700 Corneal endothelial dystrophy and perceptive deafness, 217400 Corneal dystrophy, Fuchs endothelial, 4, 613268 Tags
Amber List (moderate evidence)	SLC5A5 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber List (moderate evidence)	SLC5A7 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Amber Literature Phenotypes Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143 Tags Q1_25_ promote_green
Amber List (moderate evidence)	SLC9A7 Intellectual disability v9.288	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert list Phenotypes Intellectual developmental disorder, X-linked 108, OMIM:301024 Intellectual developmental disorder, X-linked 108, MONDO:0026723 Tags watchlist
Amber List (moderate evidence)	SLITRK2 Intellectual disability v9.288	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature NHS GMS Phenotypes Intellectual developmental disorder, X-linked 111, OMIM:301107 intellectual developmental disorder, X-linked 111, MONDO:0957203 Tags Q1_26_NHS_review Q1_26_promote_green
Amber List (moderate evidence)	SMAD3 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Loeys-Dietz syndrome, type 3, 613795 Tags
Amber List (moderate evidence)	SMARCA1 Intellectual disability v9.288	4 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Other Phenotypes X-linked intellectual disability, MONDO:0100284 Tags Q2_25_ promote_green
Amber List (moderate evidence)	SMARCD2 Intellectual disability v9.288	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Specific granule deficiency 2, 617475 (includes global developmental delay in some patients) Tags watchlist
Amber List (moderate evidence)	SMG9 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Amber Literature Phenotypes Heart and brain malformation syndrome, 616920 Tags watchlist
Amber List (moderate evidence)	SOD1 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic tetraplegia and axial hypotonia, progressive, OMIM:618598 Tags Q3_25_promote_green
Amber List (moderate evidence)	SOX3 Intellectual disability v9.288	8 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency, OMIM:300123 X-linked intellectual disability with isolated growth hormone deficiency, MONDO:0019032 Tags
Amber List (moderate evidence)	SOX9 Intellectual disability v9.288	6 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Campomelic dysplasia with autosomal sex reversal, OMIM:114290 Acampomelic campomelic dysplasia, OMIM:114290 Campomelic dysplasia, OMIM:114290 campomelic dysplasia, MONDO:0007251 Tags
Amber List (moderate evidence)	SPAST Intellectual disability v9.288	5 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spastic paraplegia 4, autosomal dominant, OMIM:182601 hereditary spastic paraplegia 4, MONDO:0008438 Tags Q1_25_ promote_green
Amber List (moderate evidence)	SPATA5 Likely inborn error of metabolism v8.92	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577 Tags new-gene-name Q2_25_ promote_green
Amber List (moderate evidence)	SPOUT1 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154 Tags Q1_25_ promote_green
Amber List (moderate evidence)	SPTAN1 Distal myopathies v6.16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes distal myopathy, MONDO:0018949 Tags Q1_26_promote_green
Amber List (moderate evidence)	SQOR Likely inborn error of metabolism v8.92	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Sulfide:quinone oxidoreductase deficiency, OMIM:619221 Tags Q2_25_ promote_green
Amber List (moderate evidence)	SRGAP3 Intellectual disability v9.288	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes 3p- syndrome, MIM:613792 (includes intellectual disability) Tags microdeletion watchlist
Amber List (moderate evidence)	SRP54 Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Expert Review Amber Literature Phenotypes Syndromic neutropenia with Shwachman-Diamond-like features Tags watchlist
Amber List (moderate evidence)	SRPK3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Slowly progressive myopathy, digenic Tags digenic
Amber List (moderate evidence)	SSR3 Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Congenital disorder of glycosylation Tags
Amber List (moderate evidence)	STAT2 Likely inborn error of metabolism v8.92	7 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency 44 616636 elongated mitochondria severe neurological deterioration following viral infection Tags
Amber List (moderate evidence)	SUCLA2 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 Tags
Amber List (moderate evidence)	SUPV3L1 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial RNA Helicase SUPV3L1-Associated neurodegenerative syndrome Tags Q1_25_ promote_green
Amber List (moderate evidence)	SUPV3L1 Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial RNA Helicase SUPV3L1-Associated neurodegenerative syndrome Tags Q2_25_ promote_green
Amber List (moderate evidence)	SVIL Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Myofibrillar myopathy 10, OMIM:619040 myofibrillar myopathy 10, MONDO:0033620 Tags watchlist
Amber List (moderate evidence)	SVIL Congenital myopathy v6.45	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Myofibrillar myopathy 10, OMIM:619040 myofibrillar myopathy 10, MONDO:0033620 Tags watchlist
Amber List (moderate evidence)	TAB2 Intellectual disability v9.288	6 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Congenital heart defects, nonsyndromic, 2, OMIM:614980 Tags
Amber List (moderate evidence)	TAF13 Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Other Literature Phenotypes Mental retardation, autosomal recessive 60 617432 Tags watchlist
Amber List (moderate evidence)	TAF1C Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Global developmental delay Intellectual disability Spasticity Strabismus Seizures Abnormality of nervous system morphology Tags
Amber List (moderate evidence)	TAMM41 Likely inborn error of metabolism v8.92	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 56, OMIM:620139 Tags Q2_25_ promote_green
Amber List (moderate evidence)	TAOK2 Intellectual disability v9.288	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neuronevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags Q1_25_ NHS_review Q1_25_ promote_green
Amber List (moderate evidence)	TARS2 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined oxidative phosphorylation deficiency 21, OMIM: 615918 combined oxidative phosphorylation defect type 21,NDO:0014398 Tags Q1_25_ promote_green
Amber List (moderate evidence)	TBX1 Intellectual disability v9.288	6 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes 22q11.2 deletion syndrome, Orphanet:567 (includes developmental delay) DiGeorge syndrome, 188400 (includes mild to moderate learning difficulties) Velocardiofacial syndrome, 192430 (includes learning disability and mental retardation) Tags watchlist
Amber List (moderate evidence)	TCAP Congenital muscular dystrophy v6.8	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Emory Genetics Laboratory Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 7, OMIM:601954 Tags
Amber List (moderate evidence)	TCP1 Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021 intellectual developmental disorder with polymicrogyria and seizures, MONDO:0976124 Tags Q1_26_promote_green
Amber List (moderate evidence)	TDP1 Intellectual disability v9.288	10 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Expert list Emory Genetics Laboratory UKGTN South West GLH Phenotypes ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, OMIM:607250 Tags founder-effect
Amber List (moderate evidence)	TEFM Likely inborn error of metabolism v8.92	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 58, OMIM:620451 Tags Q2_25_ promote_green
Amber List (moderate evidence)	TERT Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 Tags
Amber List (moderate evidence)	TFG Intellectual disability v9.288	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spastic paraplegia 57, autosomal recessive, OMIM:615658 Tags Q1_25_ promote_green
Amber List (moderate evidence)	TGFB1 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Inflammatory bowel disease, immunodeficiency, and encephalopathy, OMIM:618213 Tags watchlist_moi
Amber List (moderate evidence)	THRB Intellectual disability v9.288	4 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes compromised intellectual development Tags
Amber List (moderate evidence)	TK2 Congenital muscular dystrophy v6.8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301 Tags Q4_25_NHS_review Q4_25_promote_green
Amber List (moderate evidence)	TK2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301 Tags Q4_25_NHS_review Q4_25_promote_green
Amber List (moderate evidence)	TKFC Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Triokinase and FMN cyclase deficiency syndrome, 618805 Tags watchlist
Amber List (moderate evidence)	TKFC Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Triokinase and FMN cyclase deficiency syndrome, 618805 Tags watchlist
Amber List (moderate evidence)	TKT Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Amber Literature Phenotypes Short stature, developmental delay, and congenital heart defects, 617044 Tags watchlist
Amber List (moderate evidence)	TM2D3 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurocardiorenal malformation syndrome, OMIM:621379 Tags Q1_26_promote_green
Amber List (moderate evidence)	TMEM231 Intellectual disability v9.288	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Joubert syndrome 20, 614970 (includes developmental delay) Tags
Amber List (moderate evidence)	TMEM65 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes TMEM65 related mitochondrial encephalopmyopathy Tags
Amber List (moderate evidence)	TMLHE Intellectual disability v9.288	4 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes {Autism, susceptibility to, X-linked 6}, 300872 (includes Intellectual disability) Tags
Amber List (moderate evidence)	TNIK Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Literature Phenotypes Mental retardation, autosomal recessive 54, 617028 Tags
Amber List (moderate evidence)	TNR Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, OMIM:619653 Tags Q3_25_promote_green
Amber List (moderate evidence)	TOMM7 Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Garg-Mishra progeroid syndrome, OMIM:620601 Garg-Mishra progeroid syndrome, MONDO:0957953 Tags Q2_25_ promote_green
Amber List (moderate evidence)	TOMM70 Intellectual disability v9.288	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Severe anaemia, lactic acidosis developmental delay white matter abnormalities Tags
Amber List (moderate evidence)	TRAK1 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 68, 618201 Tags
Amber List (moderate evidence)	TRAPPC10 Intellectual disability v9.288	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 Tags watchlist
Amber List (moderate evidence)	TRAPPC11 Intellectual disability v9.288	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes myopathy and intellectual disability Tags
Amber List (moderate evidence)	TRAPPC11 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356 autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144 Tags
Amber List (moderate evidence)	TRAPPC2L Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 Tags
Amber List (moderate evidence)	TRPC5 Intellectual disability v9.288	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber DD-Gene2Phenotype Phenotypes TRPC5-related neurodevelopmental disorder Tags
Amber List (moderate evidence)	TRPM7 Likely inborn error of metabolism v8.92	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes hypomagnesaemia with secondary hypocalcaemia Tags Q1_25_ promote_green
Amber List (moderate evidence)	TSEN15 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Amber Radboud University Medical Center, Nijmegen Literature Phenotypes Pontocerebellar hypoplasia, type 2F, OMIM:617026 Tags watchlist
Amber List (moderate evidence)	TUBGCP2 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737 Tags gene-checked Q1_25_ promote_green
Amber List (moderate evidence)	TUBGCP4 Intellectual disability v9.288	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 mildly delayed development Tags
Amber List (moderate evidence)	TWIST2 Intellectual disability v9.288	5 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Barber-Say syndrome, 209885 (includes mental retardation in some patients) Focal facial dermal dysplasia 3, Setleis type, 227260 (can include intellectual disability and developmental delay) Tags
Amber List (moderate evidence)	UBE3C Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, OMIM:620270 Tags
Amber List (moderate evidence)	UBR5 Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes complex neurodevelopmental disorder, MONDO:0100038 Tags dd_review Q3_25_promote_green
Amber List (moderate evidence)	UFC1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Amber Expert Review Literature Phenotypes global developmental delay with progressive microcephaly Neurodevelopmental disorder with spasticity and poor growth, 618076 Tags watchlist
Amber List (moderate evidence)	UGGT1 Intellectual disability v9.288	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes congenital disorder of glycosylation, MONDO:0015286 Tags Q3_25_NHS_review Q3_25_promote_green
Amber List (moderate evidence)	UGGT1 Likely inborn error of metabolism v8.92	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes congenital disorder of glycosylation, MONDO:0015286 Tags Q3_25_promote_green
Amber List (moderate evidence)	UNC13A Congenital myaesthenic syndrome v5.7	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes congenital myasthenic syndrome, MONDO:0018940 Tags Q4_25_NHS_review Q4_25_promote_green
Amber List (moderate evidence)	UNC13A Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Literature Phenotypes developmental and epileptic encephalopathy, MONDO:0100620 Tags Q1_26_MOI Q3_25_NHS_review Q3_25_promote_green
Amber List (moderate evidence)	UPB1 Intellectual disability v9.288	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Beta-ureidopropionase deficiency, 613161 (can include mental retardation, developmental delay) Tags
Amber List (moderate evidence)	UPF1 Intellectual disability v9.288	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags Q3_25_NHS_review Q3_25_promote_green
Amber List (moderate evidence)	UQCC3 Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes ?Mitochondrial complex III deficiency, nuclear type, 616111 Isolated complex III deficiency Tags
Amber List (moderate evidence)	UQCRC1 Likely inborn error of metabolism v8.92	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Parkinsonism with polyneuropathy, OMIM:619279 Tags
Amber List (moderate evidence)	UQCRQ Likely inborn error of metabolism v8.92	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 4, 615159 Tags
Amber List (moderate evidence)	UROC1 Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Amber Phenotypes Intellectual disability Urocanase deficiency (Disorders of histidine, tryptophan or lysine metabolism) Tags
Amber List (moderate evidence)	USP27X Intellectual disability v9.288	3 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Mental retardation 105, 300984 Intellectual Disability X-linked intellectual disability XLID Tags
Amber List (moderate evidence)	VAPB Paediatric motor neuronopathies v3.12	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980 Amyotrophic lateral sclerosis 8, OMIM:608627 Tags
Amber List (moderate evidence)	VIPAS39 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404 Tags
Amber List (moderate evidence)	VPS33A Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mucopolysaccharidosis-plus syndrome, OMIM:617303 mucopolysaccharidosis-plus syndrome, MONDO:0015012 Tags Q1_25_ promote_green
Amber List (moderate evidence)	VPS33B Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 Tags
Amber List (moderate evidence)	VPS50 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neonatal cholestatic liver disease Failure to thrive Profound global developmental delay Postnatal microcephaly Seizures Abnormality of the corpus callosum Tags watchlist
Amber List (moderate evidence)	VPS51 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Pontocerebellar hypoplasia, type 13, MIM# 618606 Tags
Amber List (moderate evidence)	VWA1 Congenital myopathy v6.45	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Literature Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216 neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977 Tags
Amber List (moderate evidence)	WARS Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, OMIM:620317 neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, MONDO:0957218 Tags Q3_25_promote_green
Amber List (moderate evidence)	WASHC4 Intellectual disability v9.288	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, autosomal recessive 43, OMIM:615817 Tags Q1_26_promote_green
Amber List (moderate evidence)	WASHC5 Intellectual disability v9.288	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Other Expert Review Amber Phenotypes Ritscher-Schinzel syndrome, OMIM:220210, Ritscher-Schinzel syndrome, MONDO:0019078 Tags Q1_26_promote_green
Amber List (moderate evidence)	WBP4 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopemental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities, OMIM:620852 neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities, MONDO:0971043 Tags Q4_24_NHS_review Q4_24_promote_green
Amber List (moderate evidence)	WDR11 Intellectual disability v9.288	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability, MONDO:0001071 Microcephaly, MONDO:0001149 Short stature,HP:0004322 Tags watchlist
Amber List (moderate evidence)	WDR47 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked Q1_25_ promote_green
Amber List (moderate evidence)	WSB2 Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags Q1_26_promote_green
Amber List (moderate evidence)	XPA Intellectual disability v9.288	5 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Xeroderma pigmentosum, group A, OMIM: 278700 Tags Q1_25_ promote_green
Amber List (moderate evidence)	YARS Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Charcot-Marie-Tooth disease, dominant intermediate C 608323 Intellectual disability deafness nystagmus liver dysfunction Tags new-gene-name watchlist
Amber List (moderate evidence)	YME1L1 Likely inborn error of metabolism v8.92	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes ?Optic atrophy 11, 617302 Tags
Amber List (moderate evidence)	ZBTB11 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Expert Review Amber Expert Review Literature Phenotypes Intellectual developmental disorder, autosomal recessive 69, OMIM:618383 Tags gene-checked watchlist
Amber List (moderate evidence)	ZC3H14 Intellectual disability v9.288	5 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mental retardation, autosomal recessive 56, 617125 intellectual disability Tags
Amber List (moderate evidence)	ZFP57 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Diabetes mellitus, transient neonatal, 1, 601410 Tags
Amber List (moderate evidence)	ZNF148 Intellectual disability v9.288	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 Tags
Amber List (moderate evidence)	ZNF407 Intellectual disability v9.288	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Global developmental delay Intellectual disability Tags
Amber List (moderate evidence)	ZNF668 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes DNA damage repair defect microcephaly growth deficiency severe global developmental delay brain malformation facial dysmorphism Tags watchlist
Amber List (moderate evidence)	ZNF865 Intellectual disability v9.288	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags Q4_25_promote_green
Amber List (moderate evidence)	ZNRF3 Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes complex neurodevelopmental disorder, MONDO:0100038 Tags gene-checked
Red List (low evidence)	A2ML1 Intellectual disability v9.288	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Tags
Red List (low evidence)	AARS Paediatric motor neuronopathies v3.12	4 reviews 2 red	Not set	Sources Expert Review Red Expert Tags new-gene-name
Red List (low evidence)	ABCB11 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cholestasis, progressive familial intrahepatic 2, 601847 Cholestasis, benign recurrent intrahepatic, 2, 605479 Tags
Red List (low evidence)	ABCB7 Intellectual disability v9.288	5 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes ANEMIA, SIDEROBLASTIC, WITH ATAXIA Tags
Red List (low evidence)	ABCC6 Intellectual disability v9.288	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Pseudoxanthoma elasticum, 264800 Pseudoxanthoma elasticum, forme fruste, 177850 Arterial calcification, generalized, of infancy, 2, 614473 Tags
Red List (low evidence)	ABCC8 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	ABCG2 Likely inborn error of metabolism v8.92	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Primary idiopathic gout (Disorders of purine metabolism) [Junior blood group system] 614490 [Uric acid concentration, serum, QTL1] 138900 Tags
Red List (low evidence)	ABCG5 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	ABHD12 Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 Tags
Red List (low evidence)	ACAN Intellectual disability v9.288	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spondyloepiphyseal dysplasia, Kimberley type, 608361 Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800 Tags
Red List (low evidence)	ACAT2 Likely inborn error of metabolism v8.92	2 reviews	Unknown	Sources Expert Review Red Literature Phenotypes ?ACAT2 deficiency, OMIM:614055 Increased serum lactate and pyruvate High levels of ketones Low levels of cytosolic acetoacetyl-CoA thiolase Hypotonia Severe developmental delay Tags
Red List (low evidence)	ACE2 Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red Phenotypes Intellectual disability Tags
Red List (low evidence)	ACIN1 Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red Phenotypes Intellectual disability Tags
Red List (low evidence)	ACOT9 Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red Phenotypes Intellectual disability Tags
Red List (low evidence)	ACOX2 Intellectual disability v9.288	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Bile acid synthesis defect, congenital, 6 - 617308 Tags
Red List (low evidence)	ACSF3 Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Combined malonic and methylmalonic aciduria, 614265 Tags
Red List (low evidence)	ACTA1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Myopathy, scapulohumeroperoneal, 616852 Tags
Red List (low evidence)	ADGRG4 Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	ADGRG6 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Lethal congenital contracture syndrome 9, 616503 Tags
Red List (low evidence)	ADGRV1 Intellectual disability v9.288	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Febrile seizures, familial, 4, 604352 Usher syndrome, type 2C, 605472 Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 Tags
Red List (low evidence)	ADRA2B Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red List (low evidence)	AFF2_GCC STR Intellectual disability v9.288	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Literature Phenotypes Intellectual developmental disorder, X-linked 109, OMIM:309548 FRAXE intellectual disability, MONDO:0010659 Tags NGS Not Validated STR
Red List (low evidence)	AFF3_GGC STR Intellectual disability v9.288	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Phenotypes neurodevelopmental disorder unspecified Tags NGS Not Validated STR
Red List (low evidence)	AFG3L2 Intellectual disability v9.288	7 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Optic atrophy 12, OMIM:618977 Spinocerebellar ataxia 28, OMIM:610246 Spastic ataxia 5, autosomal recessive, OMIM:614487 Tags
Red List (low evidence)	AFP Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	AGK Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	AGL Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Glycogen storage disease IIIb, 232400 Glycogen storage disease IIIc, 232400 Tags
Red List (low evidence)	AGL Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Glycogen storage disease IIIa, 232400 Glycogen storage disease IIIb, 232400 Tags
Red List (low evidence)	AGPAT2 Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Lipodystrophy, congenital generalized, type 1, 608594 Tags
Red List (low evidence)	AGT Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	AGTR2 Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Victorian Clinical Genetics Services Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, X-linked 88, 300852 X-LINKED MENTAL RETARDATION 88 Tags
Red List (low evidence)	AK1 Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Hemolytic anemia due to adenylate kinase deficiency, 612631 Tags
Red List (low evidence)	AKAP17A Intellectual disability v9.288	4 reviews 3 red	Unknown	Sources Expert Review Red Tags Pseudoautosomal region 1
Red List (low evidence)	AKAP4 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	AKAP6 Intellectual disability v9.288	1 review 1 red	Unknown	Sources Victorian Clinical Genetics Services Literature Phenotypes Intellectual Disability Tags de novo
Red List (low evidence)	AKR1C2 Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes 46XY sex reversal 8 614279 Tags
Red List (low evidence)	ALDH1A3 Intellectual disability v9.288	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Microphthalmia, isolated 8 615113 Tags
Red List (low evidence)	ALDH1B1 Likely inborn error of metabolism v8.92	2 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Succinic semialdehyde dehydrogenase deficiency Tags
Red List (low evidence)	ALDOB Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Fructose intolerance, 229600 Tags
Red List (low evidence)	ALG10 Likely inborn error of metabolism v8.92	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Progressive myoclonus epilepsy CDG Tags
Red List (low evidence)	ALG2 Intellectual disability v9.288	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red Phenotypes ?Congenital disorder of glycosylation, type Ii 607906 Myasthenic syndrome, congenital, 14, with tubular aggregates 616228 Tags
Red List (low evidence)	ALS2 Intellectual disability v9.288	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100 Primary lateral sclerosis, juvenile, OMIM:606353 Spastic paralysis, infantile onset ascending, OMIM:607225 Tags
Red List (low evidence)	ALX1 Intellectual disability v9.288	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Frontonasal dysplasia 3 613456 Tags
Red List (low evidence)	AMPD1 Likely inborn error of metabolism v8.92	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Myoadenylate deaminase deficiency (Disorders of purine metabolism) Myopathy due to myoadenylate deaminase deficiency 615511 Tags
Red List (low evidence)	ANKH Intellectual disability v9.288	5 reviews 3 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Craniometaphyseal dysplasia, 123000Chondrocalcinosis 2, 118600 CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE (CMDJ) Tags
Red List (low evidence)	ANO10 Intellectual disability v9.288	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Spinocerebellar ataxia, autosomal recessive 10 613728 Tags
Red List (low evidence)	ANO3 Intellectual disability v9.288	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Dystonia 24 615034 Tags
Red List (low evidence)	ANO5 Congenital muscular dystrophy v6.8	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Miyoshi muscular dystrophy 3, OMIM:613319 Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307 Tags
Red List (low evidence)	AOX1 Likely inborn error of metabolism v8.92	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Xanthinuria type II (Disorders of purine metabolism) Tags
Red List (low evidence)	AP5Z1 Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spastic paraplegia 48, autosomal recessive, OMIM:613647 Tags
Red List (low evidence)	APTX Intellectual disability v9.288	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 ATAXIA WITH OCULOMOTOR APRAXIA 1 Tags
Red List (low evidence)	AQP7 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	AR Paediatric motor neuronopathies v3.12	7 reviews 2 green 1 red	Other	Sources Expert Review Red NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	AR Intellectual disability v9.288	5 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Red Phenotypes Androgen insensitivity, OMIM:300068 Androgen insensitivity, partial, with or without breast cancer, OMIM:312300 Hypospadias 1, X-linked, OMIM:300633 Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 Tags
Red List (low evidence)	ARHGAP31 Intellectual disability v9.288	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Adams-Oliver syndrome 1 100300 Tags
Red List (low evidence)	ARHGAP36 Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	ARHGAP6 Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	ARHGEF2 Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes ?Neurodevelopmental disorder with midbrain and hindbrain malformations, 617523 Tags
Red List (low evidence)	ARHGEF4 Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red Phenotypes developmental delay, ADHD, Aspergers' syndrome and other neurobehavioral abnormalities Tags
Red List (low evidence)	ARHGEF6 Intellectual disability v9.288	7 reviews 2 green 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Intellectual developmental disorder, X-linked 46, OMIM:300436 Tags
Red List (low evidence)	ARIH1 Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	ARSF Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	ASB12 Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	ASCL1 Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red List (low evidence)	ASMT Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Victorian Clinical Genetics Services Expert Review Red Tags Pseudoautosomal region 1
Red List (low evidence)	ASMTL Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red Tags Pseudoautosomal region 1
Red List (low evidence)	ASPH Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	ATAD2B Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes intellectual disability, MONDO:0001071 Tags
Red List (low evidence)	ATAD3B Likely inborn error of metabolism v8.92	2 reviews	Unknown	Sources Expert Review Red Phenotypes Influence on AIDS progression No OMIM phenotype Tags
Red List (low evidence)	ATCAY Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ataxia, cerebellar, Cayman type 601238 Tags founder-effect
Red List (low evidence)	ATL1 Intellectual disability v9.288	4 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spastic paraplegia 3A, autosomal dominant, 182600 Hereditary spastic paraplegia Intellectual disability Tags
Red List (low evidence)	ATP2A1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Brody myopathy, 601003 Tags
Red List (low evidence)	ATP2A1 Congenital myopathy v6.45	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Brody myopathy, OMIM:601003 Tags
Red List (low evidence)	ATP2A2 Intellectual disability v9.288	5 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Darier disease 124200 Tags
Red List (low evidence)	ATP2B3 Intellectual disability v9.288	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes ?Spinocerebellar ataxia, X-linked 1 302500 Tags
Red List (low evidence)	ATP2C2 Intellectual disability v9.288	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes language impairment, HP:0002463 Tags
Red List (low evidence)	ATP5C1 Likely inborn error of metabolism v8.92	3 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red List (low evidence)	ATP5G1 Likely inborn error of metabolism v8.92	3 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red List (low evidence)	ATP5G2 Likely inborn error of metabolism v8.92	3 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red List (low evidence)	ATP5I Likely inborn error of metabolism v8.92	3 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red List (low evidence)	ATP5J Likely inborn error of metabolism v8.92	3 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags new-gene-name
Red List (low evidence)	ATP6V1B1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Renal tubular acidosis with deafness, 267300 Tags
Red List (low evidence)	ATP7B Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Wilson disease 277900 Tags
Red List (low evidence)	ATP8B1 Intellectual disability v9.288	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cholestasis, progressive familial intrahepatic 1, 211600 Cholestasis, benign recurrent intrahepatic, 243300 Cholestasis, intrahepatic, of pregnancy, 1, 147480 Tags
Red List (low evidence)	ATXN1 Intellectual disability v9.288	4 reviews 1 green 1 red	Other	Sources Expert Review Red Literature Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	ATXN10 Intellectual disability v9.288	4 reviews 1 green 1 red	Other	Sources Expert Review Red Literature Phenotypes Spinocerebellar ataxia 10, OMIM:603516 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	ATXN2 Intellectual disability v9.288	4 reviews 1 green 1 red	Other	Sources Expert Review Red Literature Phenotypes Spinocerebellar ataxia 2, OMIM:183090 {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	ATXN3 Intellectual disability v9.288	4 reviews 1 green 1 red	Other	Sources Expert Review Red Literature Phenotypes Machado-Joseph disease, OMIM:109150 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	ATXN3L Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	ATXN7 Likely inborn error of metabolism v8.92	2 reviews 1 red	Other	Sources London North GLH NHS GMS Expert Review Red Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Mitochondrial respiratory chain disorders (caused by nuclear variants only) Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	ATXN7 Intellectual disability v9.288	4 reviews 1 green 1 red	Other	Sources Expert Review Red Other Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	AVP Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	AVPR2 Intellectual disability v9.288	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Red Tags
Red List (low evidence)	AWAT2 Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	BAG3 Congenital myopathy v6.45	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myopathy, myofibrillar, 6, OMIM:612954 Tags
Red List (low evidence)	BCAT1 Likely inborn error of metabolism v8.92	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) Tags
Red List (low evidence)	BDP1 Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	BEAN1 Intellectual disability v9.288	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Spinocerebellar ataxia 31 117210 Tags currently-ngs-unreportable nucleotide-repeat-expansion structural-variant
Red List (low evidence)	BFSP2 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cataract 12, multiple types, 611597 Tags
Red List (low evidence)	BGN Intellectual disability v9.288	4 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes X-Linked Spondyloepimetaphyseal Dysplasia Severe syndromic form of thoracic aortic aneurysm & dissection Tags
Red List (low evidence)	BHLHA9 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 Tags
Red List (low evidence)	BICD2 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 Tags
Red List (low evidence)	BIN1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	BMP15 Intellectual disability v9.288	3 reviews 3 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 Red Phenotypes Ovarian dysgenesis 2 300510 Premature ovarian failure 4 300510 Tags
Red List (low evidence)	BMPER Intellectual disability v9.288	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	BMPR1B Intellectual disability v9.288	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Acromesomelic dysplasia, Demirhan type, OMIM:609441 Brachydactyly, type A1, D, OMIM:616849 Brachydactyly, type A2, OMIM:112600 Tags
Red List (low evidence)	BOLA1 Likely inborn error of metabolism v8.92	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	BOLA2 Likely inborn error of metabolism v8.92	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	BPIFB6 Intellectual disability v9.288	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes BACTERICIDAL PERMEABILITY-INCREASING PROTEIN-LIKE 3 Tags
Red List (low evidence)	BRCA1 Intellectual disability v9.288	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes {Breast-ovarian cancer, familial, 1} 604370 autosomal dominant {Pancreatic cancer, susceptibility to, 4} 614320 autosomal dominant intellectual disability recessive Tags
Red List (low evidence)	BRCA2 Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Fanconi anemia, complementation group D1, OMIM:605724 Tags
Red List (low evidence)	BRIP1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Fanconi anemia, complementation group J, OMIM:609054 Tags
Red List (low evidence)	BSCL2 Paediatric motor neuronopathies v3.12	2 reviews 1 green	Not set	Sources Expert Review Red Expert Tags
Red List (low evidence)	BTK Intellectual disability v9.288	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes Agammaglobulinemia and isolated hormone deficiency 307200 Agammaglobulinemia, X-linked 1 300755 Tags
Red List (low evidence)	C19orf12 Intellectual disability v9.288	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes ?Spastic paraplegia 43, autosomal recessive 615043 Neurodegeneration with brain iron accumulation 4 614298 Tags
Red List (low evidence)	C1GALT1C1 Likely inborn error of metabolism v8.92	1 review	Other - please specify in evaluation comments	Sources London North GLH NHS GMS Expert Review Red Phenotypes COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) Tn polyagglutination syndrome, somatic Tn polyagglutination syndrome, somatic 300622 Tags
Red List (low evidence)	C1QA Intellectual disability v9.288	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes C1q deficiency 1, OMIM:613652 Tags
Red List (low evidence)	C1QC Intellectual disability v9.288	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes C1q deficiency 3, OMIM:620322 Tags
Red List (low evidence)	C20orf24 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2, OMIM:616994 Tags new-gene-name
Red List (low evidence)	C2orf71 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Retinitis pigmentosa 54, 613428 Tags new-gene-name
Red List (low evidence)	C3orf58 Intellectual disability v9.288	1 review	Not set	Sources Victorian Clinical Genetics Services Tags new-gene-name
Red List (low evidence)	C4orf26 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Amelogenesis imperfecta type, IIA4, 614832 Tags new-gene-name
Red List (low evidence)	C9orf72 Intellectual disability v9.288	4 reviews 1 green 1 red	Other	Sources Expert Review Red Literature Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	CA5A Intellectual disability v9.288	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Phenotypes Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 Tags
Red List (low evidence)	CACNA1A Congenital myaesthenic syndrome v5.7	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Wessex and West Midlands GLH Phenotypes Lambert-Eaton myasthenic syndrome, MONDO:0018556 Tags
Red List (low evidence)	CACNA1F Intellectual disability v9.288	3 reviews 3 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Red Phenotypes Aland Island eye disease 300600 XL Cone-rod dystrophy, X-linked, 3 300476 XLR Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 Tags
Red List (low evidence)	CACNA1H Intellectual disability v9.288	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Red Phenotypes Hyperaldosteronism, familial, type IV 617027 {Epilepsy, childhood absence, susceptibility to, 6} 611942 {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942 Tags
Red List (low evidence)	CACNA1S Intellectual disability v9.288	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Hypokalemic periodic paralysis, type 1, 170400 {Malignant hyperthermia susceptibility 5}, 601887 {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 Tags
Red List (low evidence)	CACNA2D3 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	CACNG2 Intellectual disability v9.288	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Mental retardation, autosomal dominant 10 614256 Tags
Red List (low evidence)	CAD Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Congenital disorder of glycosylation, type Iz 616457 Tags
Red List (low evidence)	CAMLG Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Congenital disorder of glycosylation, type IIz, OMIM:620201 Tags
Red List (low evidence)	CANT1 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	CAP1 Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	CAPN10 Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes {Diabetes mellitus, noninsulin-dependent 1} 601283 Tags
Red List (low evidence)	CASQ1 Congenital myopathy v6.45	7 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS London South GLH UCL Phenotypes Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231 myopathy due to calsequestrin and SERCA1 protein overload, MONDO:0014546 Tags
Red List (low evidence)	CAV3 Congenital myopathy v6.45	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myopathy, distal, Tateyama type, OMIM:614321 Tags
Red List (low evidence)	CCDC103 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ciliary dyskinesia, primary, 17, 614679 Tags new-gene-name
Red List (low evidence)	CCDC114 Intellectual disability v9.288	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ciliary dyskinesia, primary, 20, 615067 Tags new-gene-name
Red List (low evidence)	CCDC115 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Congenital disorder of glycosylation, type Iio 616828 Tags new-gene-name
Red List (low evidence)	CCDC174 Intellectual disability v9.288	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hypotonia, infantile, with psychomotor retardation - IHPMR, 616816 Tags founder-effect
Red List (low evidence)	CCDC39 Intellectual disability v9.288	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes CILIARY DYSKINESIA, PRIMARY, 14 Tags
Red List (low evidence)	CCDC40 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ciliary dyskinesia, primary, 15, 613808 Tags
Red List (low evidence)	CCDC65 Intellectual disability v9.288	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ciliary dyskinesia, primary, 27, 615504 Tags new-gene-name
Red List (low evidence)	CCDC78 Intellectual disability v9.288	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Centronuclear myopathy 4 614807 Tags
Red List (low evidence)	CCDC8 Intellectual disability v9.288	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes 3-M syndrome, 614205 3M syndrome Three M syndrome 3 Tags
Red List (low evidence)	CCNA2 Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Autosomal recessive mental retardation Tags
Red List (low evidence)	CCNB3 Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	CCNO Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ciliary diskinesia, primary, 29, 615872 Tags
Red List (low evidence)	CCT5 Intellectual disability v9.288	6 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes autosomal recessive mutilating sensory neuropathy with spastic paraplegia Tags
Red List (low evidence)	CCT7 Intellectual disability v9.288	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes CCT7-related neurodevelopmental disorder with brain abnormalities Tags
Red List (low evidence)	CD99 Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red Tags Pseudoautosomal region 1
Red List (low evidence)	CDC40 Intellectual disability v9.288	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly Tags watchlist
Red List (low evidence)	CDC45 Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Meier-Gorlin syndrome 7 617063 Tags
Red List (low evidence)	CDH15 Intellectual disability v9.288	7 reviews 3 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal dominant 3, OMIM:612580 Tags
Red List (low evidence)	CDH23 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Usher syndrome, type 1D, 601067 Deafness, autosomal recessive 12, 601386 Usher syndrome, type 1D/F digenic, 601067 Tags
Red List (low evidence)	CDH3 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 Tags
Red List (low evidence)	CDK5R1 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	CDT1 Intellectual disability v9.288	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Meier-Gorlin syndrome 4, OMIM:613804 Tags
Red List (low evidence)	CEP89 Likely inborn error of metabolism v8.92	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Phenotypes isolated complex IV deficiency, intellectual disability and multisystemic problems Tags
Red List (low evidence)	CETP Likely inborn error of metabolism v8.92	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Red Phenotypes [High density lipoprotein cholesterol level QTL 10] 143470 Familial hyperalphalipoproteinaemia (Disorders of high density lipoprotein metabolism) Hyperalphalipoproteinemia 143470 Tags
Red List (low evidence)	CFAP47 Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	CFP Intellectual disability v9.288	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes Properdin deficiency, X-linked 312060 Tags
Red List (low evidence)	CHCHD10 Congenital myopathy v6.45	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, OMIM:615911 Spinal muscular atrophy, Jokela type, OMIM:615048 Tags adult-onset
Red List (low evidence)	CHM Intellectual disability v9.288	4 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Choroideremia, 303100 Tags
Red List (low evidence)	CHMP3 Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Complex spastic quadriplegia associated with developmental delay and seizures Tags
Red List (low evidence)	CHRDL1 Intellectual disability v9.288	4 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Megalocornea 1, X-linked 309300 Tags
Red List (low evidence)	CHRNA2 Intellectual disability v9.288	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Epilepsy, nocturnal frontal lobe, type 4 610353 Tags
Red List (low evidence)	CHRNA4 Intellectual disability v9.288	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Red Phenotypes Epilepsy, nocturnal frontal lobe, 1 600513 AD {Nicotine addiction, susceptibility to} 188890 Tags
Red List (low evidence)	CHRNB2 Intellectual disability v9.288	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Epilepsy, nocturnal frontal lobe, 3 605375 Tags
Red List (low evidence)	CHRND Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Myasthenic syndrome, congenital, 3A, slow-channel, 616321 Congenital myasthenic syndrome Tags
Red List (low evidence)	CHRNG Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Myasthenia gravis, neonatal transient Escobar syndrome, 265000 Multiple pterygium syndrome, lethal type, 253290 Tags
Red List (low evidence)	CHST3 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 Tags
Red List (low evidence)	CHSY1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Temtamy preaxial brachydactyly syndrome, 605282 Tags
Red List (low evidence)	CHUK Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cocoon syndrome, 613630 Tags
Red List (low evidence)	CIB2 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Deafness, autosomal recessive 48, 609439 Usher syndrome, type IJ, 614869 Tags
Red List (low evidence)	CISD2 Intellectual disability v9.288	6 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes WOLFRAM SYNDROME TYPE 2 Tags
Red List (low evidence)	CLCN1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Myotonia congenita, dominant, 160800 Tags
Red List (low evidence)	CLCN5 Intellectual disability v9.288	3 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 Red Phenotypes Dent disease Tags
Red List (low evidence)	CLCN6 Likely inborn error of metabolism v8.92	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Other Phenotypes Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173 Tags
Red List (low evidence)	CLCN7 Intellectual disability v9.288	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Osteopetrosis, autosomal recessive 4, OMIM:611490 Osteopetrosis, autosomal dominant 2, OMIM:166600 Tags
Red List (low evidence)	CLCNKA Intellectual disability v9.288	2 reviews 1 red	Other	Sources Gene2Phenotype Phenotypes Bartter syndrome, type 4b, digenic, OMIM:613090 Bartter disease type 4B, MONDO:0000909 Tags polygenic
Red List (low evidence)	CLCNKB Intellectual disability v9.288	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Bartter syndrome, type 3, OMIM:607364 Bartter disease type 3, MONDO:0011822 Bartter syndrome, type 4b, digenic, OMIM:613090 Bartter disease type 4B, MONDO:0000909 Tags monogenic-polygenic
Red List (low evidence)	CLDN19 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Hypomagnesemia 5, renal, with ocular involvement, 248190 Tags
Red List (low evidence)	CLIC2 Intellectual disability v9.288	4 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Red Expert Review Red Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Intellectual developmental disorder, X-linked syndromic 32, OMIM:300886 Tags disputed
Red List (low evidence)	CLPP Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	CLPS Likely inborn error of metabolism v8.92	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Pancreatic colipase deficiency (Other disorders of lipid and lipoprotein metabolism) Tags
Red List (low evidence)	CMC4 Intellectual disability v9.288	3 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 Red Expert Review Red Tags
Red List (low evidence)	CMIP Intellectual disability v9.288	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Phenotypes HP:0012759 HP:0000717 HP:0007018 HP:0001250 HP:0011471 Tags
Red List (low evidence)	CNBP Distal myopathies v6.16	3 reviews 1 green 1 red	Other	Sources NHS GMS Expert Review Red Expert Review Phenotypes Myotonic dystrophy 2, OMIM:602668 Myotonic dystrophy type 2, MONDO:0011266 Tags nucleotide-repeat-expansion
Red List (low evidence)	CNDP1 Likely inborn error of metabolism v8.92	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Carnosinaemia (Other disorders of peptide metabolism) Tags
Red List (low evidence)	CNKSR1 Intellectual disability v9.288	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION (G2P) Tags
Red List (low evidence)	CNTN3 Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Literature Tags
Red List (low evidence)	CNTN4 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	COA1 Likely inborn error of metabolism v8.92	2 reviews	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	COA3 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	COA5 Likely inborn error of metabolism v8.92	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Expert Review Red Victorian Clinical Genetics Services Phenotypes ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 Tags
Red List (low evidence)	COA5 Intellectual disability v9.288	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Phenotypes ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 MITOCHONDRIAL COMPLEX IV DEFICIENCY Tags
Red List (low evidence)	COG2 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Congenital disorder of glycosylation, type IIq, 617395 Tags
Red List (low evidence)	COL10A1 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Metaphyseal chondrodysplasia, Schmid type, 156500 Tags
Red List (low evidence)	COL11A1 Intellectual disability v9.288	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Stickler syndrome, type II, 604841 Marshall syndrome, 154780 {Lumbar disc herniation, susceptibility to}, 603932 Fibrochondrogenesis, 228520 Tags
Red List (low evidence)	COL11A2 Intellectual disability v9.288	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	COL12A1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Ullrich congenital muscular dystrophy 2, 616470 Bethlem myopathy Tags
Red List (low evidence)	COL18A1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Knobloch syndrome, type 1, 267750 Tags
Red List (low evidence)	COL1A1 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Osteogenesis imperfecta, type I, 166200 OI type II, 166210 OI type III, 259420 OI type IV, 166220 Ehlers-Danlos syndrome, type I, 130000 Ehlers-Danlos syndrome, type VIIA, 130060 {Osteoporosis}, 166710 Caffey disease, 114000 [Bone mineral density variation QTL], 166710 Tags
Red List (low evidence)	COL1A2 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	COL25A1 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	COL2A1 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Stickler syndrome, type I, 108300 Kniest dysplasia, 156550 Achondrogenesis, type II or hypochondrogenesis, 200610 SED congenita, 183900 SMED Strudwick type, 184250 Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 Spondyloperipheral dysplasia, 271700 SED, Namaqualand type Osteoarthritis with mild chondrodysplasia, 604864 Vitreoretinopathy with phalangeal epiphyseal dysplasia Platyspondylic skeletal dysplasia, Torrance type, 151210 Otospondylomegaepiphyseal dysplasia, 215150 Avascular necrosis of the femoral head, 608805 Legg-Calve-Perthes disease, 150600 Stickler sydrome, type I, nonsyndromic ocular, 609508 Czech dysplasia, 609162 Tags
Red List (low evidence)	COL4A2 Congenital muscular dystrophy v6.8	4 reviews 2 red	Unknown	Sources NHS GMS London South GLH Expert Review Red Expert Review Tags
Red List (low evidence)	COL4A3 Intellectual disability v9.288	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Alport syndrome, autosomal recessive, 203780 Hematuria, benign familial, 141200 Alport syndrome, autosomal dominant, 104200 Tags
Red List (low evidence)	COL4A4 Intellectual disability v9.288	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Alport syndrome 2, autosomal recessive, OMIM:203780 Hematuria,familial benign, OMIM:141200 Tags
Red List (low evidence)	COL4A6 Intellectual disability v9.288	3 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 Red Expert Review Red Phenotypes ?Deafness, X-linked 6 300914 Tags
Red List (low evidence)	COL6A1 Intellectual disability v9.288	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Bethlem myopathy 1, OMIM:158810 Ullrich congenital muscular dystrophy 1, OMIM:254090 Tags
Red List (low evidence)	COL6A3 Intellectual disability v9.288	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Bethlem myopathy, OMIM:158810 Ullrich congenital muscular dystrophy, OMIM:254090 Tags
Red List (low evidence)	COL9A1 Intellectual disability v9.288	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Stickler syndrome, type IV, OMIM:614134 Epiphyseal dysplasia, multiple, 6, OMIM:614135 Tags
Red List (low evidence)	COL9A2 Intellectual disability v9.288	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Stickler syndrome, type V, OMIM:614284 Epiphyseal dysplasia, multiple, 2, OMIM:600204 Tags
Red List (low evidence)	COL9A3 Congenital myopathy v6.45	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969 Tags
Red List (low evidence)	COL9A3 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969 Tags
Red List (low evidence)	COLEC10 Intellectual disability v9.288	2 reviews 1 red	Not set	Sources Victorian Clinical Genetics Services Phenotypes 3MC syndrome 3, 248340 Tags
Red List (low evidence)	COLQ Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Myasthenic syndrome, congenital, 5, 603034 Congenital myasthenic syndrome Tags
Red List (low evidence)	COMP Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Pseudoachondroplasia, 177170 Epiphyseal dysplasia, multiple 1, 132400 Tags
Red List (low evidence)	COQ2 Intellectual disability v9.288	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Coenzyme Q10 deficiency, primary, 1 607426 {Multiple system atrophy, susceptibility to} 146500 Tags
Red List (low evidence)	COQ5 Intellectual disability v9.288	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency Tags
Red List (low evidence)	COX14 Intellectual disability v9.288	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Phenotypes ?Mitochondrial complex IV deficiency 220110 Tags
Red List (low evidence)	COX5B Likely inborn error of metabolism v8.92	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	COX6B1 Intellectual disability v9.288	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051 Tags
Red List (low evidence)	COX6C Likely inborn error of metabolism v8.92	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	COX7A1 Likely inborn error of metabolism v8.92	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	COX7A2 Likely inborn error of metabolism v8.92	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	COX7B2 Likely inborn error of metabolism v8.92	1 review	Unknown	Sources Expert Review Red Phenotypes ?{Nasopharyngeal carcinoma, susceptibility to}, 607107 Tags
Red List (low evidence)	COX7C Likely inborn error of metabolism v8.92	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	COX8A Likely inborn error of metabolism v8.92	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Mitochondrial complex IV deficiency 220110 Tags
Red List (low evidence)	CP Intellectual disability v9.288	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes [Hypoceruloplasminemia, hereditary], 604290 Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290 Tags
Red List (low evidence)	CPA6 Intellectual disability v9.288	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Epilepsy, familial temporal lobe, 5 Tags refuted
Red List (low evidence)	CPD Intellectual disability v9.288	2 reviews 1 red	Not set	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	CPT1B Rhabdomyolysis and metabolic muscle disorders v5.14	1 review	Not set	Sources UKGTN Tags
Red List (low evidence)	CPT2 Congenital myopathy v6.45	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes CPT II deficiency, infantile, OMIM:600649 CPT II deficiency, lethal neonatal, OMIM:608836 Tags
Red List (low evidence)	CPXCR1 Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	CRB1 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Retinitis pigmentosa-12, autosomal recessive, 600105 Leber congenital amaurosis 8, 613835 Pigmented paravenous chorioretinal atrophy, 172870 Tags
Red List (low evidence)	CRLF2 Intellectual disability v9.288	4 reviews 3 red	Unknown	Sources Expert Review Red Tags Pseudoautosomal region 1
Red List (low evidence)	CRX Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cone-rod retinal dystrophy-2, 120970 Leber congenital amaurosis 7, 613829 Tags
Red List (low evidence)	CRYAA Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cataract 9, multiple types, 604219 Tags
Red List (low evidence)	CRYAB Congenital myopathy v6.45	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myopathy, myofibrillar, 2, OMIM:608810 Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 Tags
Red List (low evidence)	CRYBA1 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cataract 10, multiple types, 600881 Tags
Red List (low evidence)	CRYBA4 Intellectual disability v9.288	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cataract 23 610425 Tags
Red List (low evidence)	CRYBB1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cataract 17, multiple types, 611544 Tags
Red List (low evidence)	CRYBB2 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cataract 3, multiple types, 601547 Tags
Red List (low evidence)	CRYBB3 Intellectual disability v9.288	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cataract 22, OMIM:609741 Tags
Red List (low evidence)	CRYGC Intellectual disability v9.288	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cataract 2, multiple types 604307 Tags
Red List (low evidence)	CRYGD Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cataract 4, multiple types, 115700 Tags
Red List (low evidence)	CSF1R Intellectual disability v9.288	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 Tags adult-onset
Red List (low evidence)	CSF2RA Intellectual disability v9.288	4 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Surfactant metabolism dysfunction, pulmonary, 4 300770 Tags Pseudoautosomal region 1
Red List (low evidence)	CTGF Intellectual disability v9.288	1 review	Unknown	Sources Other Tags watchlist
Red List (low evidence)	CTNS Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cystinosis, nephropathic, 219800 Cystinosis, ocular nonnephropathic, 219750 Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 Cystinosis, atypical nephropathic, 219800 Tags
Red List (low evidence)	CTPS2 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	CTSF Intellectual disability v9.288	6 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type Tags
Red List (low evidence)	CTSK Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Pycnodysostosis, 265800 Tags
Red List (low evidence)	CTTNBP2 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	CUL7 Intellectual disability v9.288	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes 3-M syndrome 1 273750 Tags
Red List (low evidence)	CXorf58 Intellectual disability v9.288	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Tags
Red List (low evidence)	CYFIP1 Intellectual disability v9.288	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes intellectual disability, MONDO:0001071 Tags
Red List (low evidence)	CYP1B1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 Peters anomaly, 604229 Tags
Red List (low evidence)	CYP2C8 Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 1 green	Unknown	Sources Radboud University Medical Center, Nijmegen Phenotypes {Drug metabolism, altered, CYP2C8-related}, OMIM:618018 Rhabdomyolysis, cerivastatin-induced Tags pharmacogenetics
Red List (low evidence)	CYP7A1 Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Cholesterol 7-alpha-hydroxylase deficiency (Disorders of bile acid biosynthesis) Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency Tags
Red List (low evidence)	CYP7B1 Intellectual disability v9.288	6 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spastic paraplegia 5A, autosomal recessive , OMIM:270800 Tags
Red List (low evidence)	DAB1 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	DACT1 Intellectual disability v9.288	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Other Phenotypes ?Townes-Brocks syndrome 2,617466 TBS2 Tags
Red List (low evidence)	DCHS2 Intellectual disability v9.288	4 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes pituitary stalk interruption syndrome, MONDO:0019828 Tags
Red List (low evidence)	DCTN1 Paediatric motor neuronopathies v3.12	1 review	Not set	Sources Expert Review Red Expert Tags
Red List (low evidence)	DCTN1 Intellectual disability v9.288	3 reviews 1 green 1 red	Other - please specify in evaluation comments	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Neuropathy, distal hereditary motor, type VIIB, 607641 {Amyotrophic lateral sclerosis, susceptibility to}, 105400 Perry syndrome, 168605 Tags
Red List (low evidence)	DDB2 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 Tags
Red List (low evidence)	DDHD1 Intellectual disability v9.288	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes HEREDITARY SPASTIC PARAPLEGIA Tags
Red List (low evidence)	DDR2 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	DDX58 Intellectual disability v9.288	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Tags new-gene-name
Red List (low evidence)	DECR1 Intellectual disability v9.288	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes 2,4-DIENOYL-COA REDUCTASE DEFICIENCY Tags
Red List (low evidence)	DES Congenital myopathy v6.45	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Myopathy, myofibrillar, 1, OMIM:601419 Scapuloperoneal syndrome, neurogenic, Kaeser type, OMIM:181400 Tags
Red List (low evidence)	DGKH Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	DHFR2 Likely inborn error of metabolism v8.92	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	DHODH Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Miller syndrome OMIM: 126064 Tags
Red List (low evidence)	DIAPH2 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	DIP2B Intellectual disability v9.288	6 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, FRA12A type, 136630 MENTAL RETARDATION, FRA12A TYPE Tags nucleotide-repeat-expansion
Red List (low evidence)	DLGAP2 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	DLL3 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spondylocostal dysostosis 1, autosomal recessive, 277300 Tags
Red List (low evidence)	DLL4 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes ADAMS-OLIVER SYNDROME 6 Tags
Red List (low evidence)	DLST Likely inborn error of metabolism v8.92	3 reviews 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes No OMIM phenotype?Familial Alzheimer disease Tags
Red List (low evidence)	DMD Distal myopathies v6.16	1 review	Not set	Sources Expert Review Red Eligibility statement prior genetic testing Tags Skewed X-inactivation
Red List (low evidence)	DMGDH Likely inborn error of metabolism v8.92	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Dimethylglycine dehydrogenase deficiency 605850 Dimethylglycinuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) Tags
Red List (low evidence)	DMP1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Hypophosphatemic rickets, AR, 241520 Tags
Red List (low evidence)	DMPK Congenital myopathy v6.45	4 reviews 1 green 2 red	Other	Sources Expert Review Red UKGTN Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	DMPK Intellectual disability v9.288	6 reviews 1 green 3 red	Other	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	DMPK Distal myopathies v6.16	2 reviews 1 green	Other	Sources Expert Review Red Eligibility statement prior genetic testing Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	DMPK Paediatric motor neuronopathies v3.12	3 reviews 1 red	Other	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	DMPK_CTG STR Paediatric motor neuronopathies v3.12	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Red Expert list Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags STR
Red List (low evidence)	DNA2 Intellectual disability v9.288	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Seckel syndrome 8, OMIM:615807 Tags
Red List (low evidence)	DNAAF3 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ciliary dyskinesia, primary, 2, 606763 Tags
Red List (low evidence)	DNAAF4 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes {Dyslexia, susceptibility to, 1}, 127700 Ciliary dyskinesia, primary, 25, 615482 Tags
Red List (low evidence)	DNAH14 Intellectual disability v9.288	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red List (low evidence)	DNAJB2 Paediatric motor neuronopathies v3.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Radboud University Medical Center, Nijmegen Phenotypes Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 Tags
Red List (low evidence)	DNAJB6 Congenital myopathy v6.45	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Phenotypes Muscular dystrophy, limb-girdle, autosomal dominant 1, OMIM:603511 Tags
Red List (low evidence)	DNAJC3 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	DNM2 Intellectual disability v9.288	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Charcot Marie Tooth disease, axonal, type 2M, 606482 Charcot Marie Tooth disease, dominant intermediate B, 606482 Tags
Red List (low evidence)	DNM2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Centronuclear myopathy 1, 160150 Centronuclear myopathy Tags
Red List (low evidence)	DNMT1 Intellectual disability v9.288	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant Neuropathy, hereditary sensory, type IE Tags
Red List (low evidence)	DOCK11 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	DPEP1 Likely inborn error of metabolism v8.92	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Cysteinylglycinase deficiency (Disorders of the gamma-glutamyl cycle) Tags
Red List (low evidence)	DPF1 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	DPF3 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	DPP6 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Other Phenotypes Intellectual developmental disorder, autosomal dominant 33, OMIM:616311 Tags deletions
Red List (low evidence)	DRD2 Intellectual disability v9.288	3 reviews 1 green 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Dystonia, myoclonic, 159900 Tags
Red List (low evidence)	DSCAM Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	DSCR3 Intellectual disability v9.288	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual disability, no OMIM # yet Tags new-gene-name
Red List (low evidence)	DSPP Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Dentinogenesis imperfecta, Shields type II, 125490 Deafness, autosomal dominant 36, with dentinogenesis, 605594 Dentinogenesis imperfecta, Shields type III, 125500 Dentin dysplasia, type II, 125420 Tags
Red List (low evidence)	DST Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Neuropathy, hereditary sensory and autonomic, type VI, 614653Epidermolysis bullosa simplex, sutosomal recessive 2, 615425 Tags
Red List (low evidence)	DSTYK Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805 Tags
Red List (low evidence)	DTD1 Likely inborn error of metabolism v8.92	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	DUX4 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS South West GLH Expert Review Phenotypes Facioscapulohumeral muscular dystrophy, 158900 Tags
Red List (low evidence)	DUX4 Distal myopathies v6.16	1 review	Not set	Sources Expert Review Red Eligibility statement prior genetic testing Phenotypes FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (FSHD1A) Tags
Red List (low evidence)	DUX4 Congenital muscular dystrophy v6.8	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources UKGTN Phenotypes Facioscapulohumeral Muscular Dystrophy 1A Tags cnv currently-ngs-unreportable treatable
Red List (low evidence)	DVL1 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes NA Tags
Red List (low evidence)	DVL3 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes AUTOSOMAL-DOMINANT ROBINOW SYNDROME Tags
Red List (low evidence)	DYNC2H1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 Tags
Red List (low evidence)	DYSF Congenital myopathy v6.45	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Miyoshi muscular dystrophy 1 254130 Muscular dystrophy, limb-girdle, type 2B 253601 Myopathy, distal, with anterior tibial onset 606768 Tags
Red List (low evidence)	ECEL1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Arthrogryposis, distal, type 5D, 615065 Tags
Red List (low evidence)	ECSIT Likely inborn error of metabolism v8.92	2 reviews	Unknown	Sources Expert Review Red Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	EDA Intellectual disability v9.288	4 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 Tooth agenesis, selective, X-linked 1, 313500 Tags
Red List (low evidence)	EDNRA Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Migraine, resistance to, 157300 Tags
Red List (low evidence)	EDNRB Intellectual disability v9.288	6 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes ABCD syndrome, 600501 ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS Tags
Red List (low evidence)	EFHC1 Intellectual disability v9.288	3 reviews 1 green 1 red	Unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 Tags
Red List (low evidence)	EGF Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Hypomagnesaemia type 4, renal (Disorder of magnesium metabolism) Tags
Red List (low evidence)	EGR2 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	EIF2A Intellectual disability v9.288	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Intellectual disability epilepsy Tags
Red List (low evidence)	EIF2AK1 Intellectual disability v9.288	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual disability white matter abnormalities Tags
Red List (low evidence)	EIF4G1 Intellectual disability v9.288	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Parkinson disease 18, 614251 Tags
Red List (low evidence)	ELK1 Intellectual disability v9.288	4 reviews 3 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 Red Tags watchlist
Red List (low evidence)	ELN Intellectual disability v9.288	5 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Supravalvar aortic stenosis, 185500 Cutis laxa, AD, 123700 Tags
Red List (low evidence)	ELOVL5 Intellectual disability v9.288	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spinocerebellar ataxia 38, 615957 Tags
Red List (low evidence)	EN2 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	ENOX2 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	ENPP1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 {Obesity, susceptibility to}, 601665 Arterial calcification, generalized, of infancy, 1, 208000 Hypophosphatemic rickets, autosomal recessive, 2, 613312 Cole disease, 615522 Tags
Red List (low evidence)	EOGT Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Adams-Oliver syndrome 4, 615297 Tags
Red List (low evidence)	EOMES Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes POLYMICROGYRIA AND CORPUS CALLOSUM AGENESIS Tags watchlist
Red List (low evidence)	EPM2A Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Myoclonic epilepsy of Lafora 1, OMIM:254780 Tags
Red List (low evidence)	EPPK1 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	ERCC4 Intellectual disability v9.288	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Xeroderma pigmentosum, group F 278760 XFE progeroid syndrome, OMIM: 610965 Tags
Red List (low evidence)	ERCC6L2 Likely inborn error of metabolism v8.92	0 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	ERF Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Craniosynostosis 4, 600775 Tags
Red List (low evidence)	ERMARD Intellectual disability v9.288	7 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Tags watchlist
Red List (low evidence)	ESX1 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	ETFDH Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Glutaric acidemia IIC, 231680 Glutaric acidemia IIA, 231680 Glutaric acidemia IIB, 231680 Tags
Red List (low evidence)	EVC Intellectual disability v9.288	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	EVC2 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ellis-van Creveld syndrome, 225500 Tags
Red List (low evidence)	EXT1 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	EYA1 Intellectual disability v9.288	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Branchiootorenal syndrome 1, with or without cataracts, 113650 Anterior segment anomalies with or without cataract, 113650 Branchiootic syndrome 1, 602588 ?Otofaciocervical syndrome, 166780 Tags
Red List (low evidence)	F5 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	FA2H Intellectual disability v9.288	7 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spastic paraplegia 35, autosomal recessive, 612319 spastic paraplegia with ID cognitive defects Seizures Tags
Red List (low evidence)	FAH Intellectual disability v9.288	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes TYROSINEMIA TYPE 1 Tags
Red List (low evidence)	FAM111A Intellectual disability v9.288	6 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Red Phenotypes KENNY-CAFFEY SYNDROME (KCS [MIM 127000]) Tags
Red List (low evidence)	FAM111B Congenital myopathy v6.45	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, OMIM:615704 Tags
Red List (low evidence)	FAM111B Intellectual disability v9.288	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 Tags
Red List (low evidence)	FAM160B1 Intellectual disability v9.288	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Central hypotonia Global developmental delay Intellectual disability Abnormality of the face Tags new-gene-name
Red List (low evidence)	FAM161A Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Retinitis pigmentosa 28, 606068 Tags
Red List (low evidence)	FAM20A Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 Tags
Red List (low evidence)	FAM47B Intellectual disability v9.288	3 reviews 3 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 Red Expert Review Red Tags
Red List (low evidence)	FAM58A Intellectual disability v9.288	6 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Expert Review Red Phenotypes STAR syndrome 300707 Tags new-gene-name
Red List (low evidence)	FANCB Intellectual disability v9.288	4 reviews 1 green 3 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Red Expert Review Red Emory Genetics Laboratory Phenotypes Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome Tags
Red List (low evidence)	FAR1 Likely inborn error of metabolism v8.92	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 Tags
Red List (low evidence)	FASN Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red List (low evidence)	FBLN5 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	FBN1 Intellectual disability v9.288	7 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Marfan syndrome 154700 MASS syndrome 604308 Weill-Marchesani syndrome 2, dominant 608328 Marfan lipodystrophy syndrome 616914 Tags
Red List (low evidence)	FBN2 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	FBP1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Fructose-1,6-bisphosphatase deficiency, 229700 Tags
Red List (low evidence)	FBP2 Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 2 red	Not set	Sources UKGTN Tags
Red List (low evidence)	FBP2 Likely inborn error of metabolism v8.92	1 review	Unknown	Sources Expert Review Red Phenotypes isolated lactic acidosis Tags
Red List (low evidence)	FBXO25 Intellectual disability v9.288	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Red Phenotypes Expression in brain Tags
Red List (low evidence)	FBXO38 Paediatric motor neuronopathies v3.12	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Neuronopathy, distal hereditary motor, type IID 615575 Tags
Red List (low evidence)	FBXO7 Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Parkinson disease 15, autosomal recessive 260300 Tags
Red List (low evidence)	FBXO8 Intellectual disability v9.288	1 review 1 red	Not set	Sources Expert Review Red Expert Review Red Phenotypes moderate developmental delay Tags
Red List (low evidence)	FBXW4 Intellectual disability v9.288	3 reviews 1 red	Not set	Sources Expert Review Red Phenotypes SPLIT-HAND/FOOT MALFORMATION TYPE 3 Tags
Red List (low evidence)	FDXR Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	FGD4 Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Charcot Marie Tooth disease, type 4H, 609311 Tags
Red List (low evidence)	FGF10 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Aplasia of lacrimal and salivary glands, 180920 LADD syndrome, 149730 Tags
Red List (low evidence)	FGF3 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 Tags
Red List (low evidence)	FGFR1 Intellectual disability v9.288	8 reviews 3 green 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Red Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Hartsfield syndrome, OMIM:615465 Pfeiffer syndrome, OMIM:101600 Encephalocraniocutaneous lipomatosis, somatic mosaic, OMIM:613001 Tags
Red List (low evidence)	FGFR3 Intellectual disability v9.288	5 reviews 2 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes CATSHL syndrome 610474 Hypochondroplasia 146000 SADDAN 616482 Muenke syndrome 602849 Thanatophoric dysplasia, type I 187600 Tags adult-onset
Red List (low evidence)	FHL1 Congenital myopathy v6.45	1 review	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 Red Expert Review Phenotypes Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717 Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 Tags
Red List (low evidence)	FHL1 Intellectual disability v9.288	4 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Scapuloperoneal myopathy, X-linked dominant, 300695 Myopathy, X-linked, with postural muscle atrophy, 300696 Myopathy, reducing body, X-linked, severe early-onset, 300717 Myopathy, reducing body, X-linked, childhood-onset, 300718 Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 Tags
Red List (low evidence)	FKBP14 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 Tags
Red List (low evidence)	FKBP6 Intellectual disability v9.288	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Red Phenotypes Williams-Beuren syndrome Tags microdeletion
Red List (low evidence)	FKBPL Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Expert Review Red Tags
Red List (low evidence)	FKTN Rhabdomyolysis and metabolic muscle disorders v5.14	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Literature Emory Genetics Laboratory UKGTN Phenotypes Fukuyama congenital muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800 Tags
Red List (low evidence)	FLAD1 Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Lipid storage myopathy due to flavin adenine synthetase deficiency 255100 Tags
Red List (low evidence)	FLNA Intellectual disability v9.288	6 reviews 3 green 3 red	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 Red Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Heterotopia, periventricular, 1, OMIM:300049 Otopalatodigital syndrome, type II, OMIM:304120 ?FG syndrome 2, OMIM:300321 Tags
Red List (low evidence)	FLNB Intellectual disability v9.288	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spondylocarpotarsal synostosis syndrome, 272460 Larsen syndrome, 150250 Atelosteogenesis, type I, 108720 Atelosteogenesis, type III, 108721 Boomerang dysplasia, 112310 Tags
Red List (low evidence)	FLT4 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Lymphedema, hereditary, IA, 153100 Hemangioma, capillary infantile, somatic, 602089 Tags
Red List (low evidence)	FOLR2 Likely inborn error of metabolism v8.92	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	FOLR3 Likely inborn error of metabolism v8.92	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	FOXC1 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Iridogoniodysgenesis, type 1, 601631 Rieger or Axenfeld anomalies, 602482 Axenfeld-Rieger syndrome, type 3, 602482 Iris hypoplasia and glaucoma, 601631 Tags
Red List (low evidence)	FOXC2 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Lymphedema-distichiasis syndrome, 153400 Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 Tags
Red List (low evidence)	FOXE1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Bamforth-Lazarus syndrome, 241850 Tags
Red List (low evidence)	FOXE3 Intellectual disability v9.288	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Anterior segment mesenchymal dysgenesis, 107250 Aphakia, congenital primary, 610256 Tags
Red List (low evidence)	FOXF1 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 Tags
Red List (low evidence)	FOXN1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 Tags
Red List (low evidence)	FOXP3 Intellectual disability v9.288	5 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert Review Red Phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked 304790 Tags
Red List (low evidence)	FREM1 Intellectual disability v9.288	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Phenotypes Bifid nose with or without anorectal and renal anomalies 608980 Manitoba oculotrichoanal syndrome 248450 Trigonocephaly 2 614485 Tags
Red List (low evidence)	FRMD7 Intellectual disability v9.288	5 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert Review Red Phenotypes Nystagmus 1, congenital, X-linked 310700 Nystagmus, infantile periodic alternating, X-linked 310700 Tags
Red List (low evidence)	FTL Intellectual disability v9.288	7 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Neurodegeneration with brain iron accumulation 3 606159 Hyperferritinemia-cataract syndrome L-ferritin deficiency, dominant and recessive Tags
Red List (low evidence)	FUT2 Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Developmental and epileptic encephalopathy Tags
Red List (low evidence)	FXN Intellectual disability v9.288	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags nucleotide-repeat-expansion
Red List (low evidence)	FXYD2 Likely inborn error of metabolism v8.92	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Hypomagnesemia 2, renal 154020 Hypomagnesaemia type 2, renal (Disorder of magnesium metabolism) Tags
Red List (low evidence)	FYCO1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cataract 18, autosomal recessive, 610019 Tags
Red List (low evidence)	FZD3 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	FZD6 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157 Tags
Red List (low evidence)	G6PC3 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	GAA Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Glycogen storage disease II, 232300 Tags
Red List (low evidence)	GAB3 Intellectual disability v9.288	3 reviews 3 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 Red Expert Review Red Tags
Red List (low evidence)	GABRG3 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	GABRQ Intellectual disability v9.288	4 reviews 2 red	Unknown	Sources Expert Review Red Expert Review Red Phenotypes autism spectrum disorder, MONDO:0005258 schizophrenia, MONDO:0005090 migraine disorder, MONDO:0005277 Tags Autism Spectrum Disorder
Red List (low evidence)	GALK1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Galactokinase deficiency with cataracts, 230200 Tags
Red List (low evidence)	GALNS Intellectual disability v9.288	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 4A (MPS4A) Tags
Red List (low evidence)	GALNT12 Likely inborn error of metabolism v8.92	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Red Phenotypes (GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)) GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) {Colorectal cancer, susceptibility to, 1} 608812 Tags
Red List (low evidence)	GAP43 Intellectual disability v9.288	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags
Red List (low evidence)	GARS Paediatric motor neuronopathies v3.12	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Illumina TruGenome Clinical Sequencing Services Phenotypes Distal Spinal Muscular Atrophy Tags new-gene-name
Red List (low evidence)	GAS8 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes PRIMARY CILIARY DYSKINESIA Tags new-gene-name
Red List (low evidence)	GATA2 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Immunodeficiency 21, 614172 Emberger syndrome, 614038 {Myelodysplastic syndrome, susceptibility to}, 614286 {Leukemia, acute myeloid, susceptibility to}, 601626 Tags
Red List (low evidence)	GATA4 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Atrial septal defect 2, 607941 Ventricular septal defect 1, 614429 Atrioventricular septal defect 4, 614430 ?Testicular anomalies with or without congenital heart disease, 615542 Tetralogy of Fallot, 187500 Tags
Red List (low evidence)	GATB Likely inborn error of metabolism v8.92	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Combined oxidative phosphorylation deficiency 41, OMIM:618838 Tags
Red List (low evidence)	GBE1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Glycogen storage disease IV, OMIM:232500 Tags
Red List (low evidence)	GBE1 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	GCK Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	GDAP1 Intellectual disability v9.288	3 reviews 1 green 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706 Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340 Charcot-Marie-Tooth disease, type 4A, OMIM:214400 Tags
Red List (low evidence)	GDF5 Intellectual disability v9.288	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Acromesomelic dysplasia, Hunter-Thompson type, 201250 Brachydactyly, type C, 113100 Chondrodysplasia, Grebe type, 200700 Du Pan syndrome, 228900 Brachydactyly, type A2, 112600 Symphalangism, proximal, 1B, 615298 Multiple synostoses syndrome 2, 610017 {Osteoarthritis-5}, 612400 Brachydactyly, type A1, C, 615072 Tags
Red List (low evidence)	GDF6 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Klippel-Feil syndrome 1, autosomal dominant, 118100 Microphthalmia, isolated 4, 613094 Microphthalmia with coloboma 6, digenic, 613703 Leber congenital amaurosis 17, 615360 Tags
Red List (low evidence)	GFPT1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Myasthenia, congenital, 12, with tubular aggregates, 610542 Congenital myasthenic syndrome Tags
Red List (low evidence)	GGT1 Likely inborn error of metabolism v8.92	2 reviews 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Gamma-glutamyl transpeptidase deficiency Glutathionuria (Disorders of the gamma-glutamyl cycle) Tags
Red List (low evidence)	GHR Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Laron dwarfism, OMIM:262500 Growth hormone insensitivity, partial, OMIM:604271 Increased responsiveness to growth hormone, OMIM:604271 Tags
Red List (low evidence)	GIGYF2 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	GIPC1 Distal myopathies v6.16	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Oculopharyngodistal myopathy 2, OMIM:618940 oculopharyngodistal myopathy 2, MONDO:0030134 Tags STR
Red List (low evidence)	GIPC1_GGC STR Distal myopathies v6.16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Oculopharyngodistal myopathy 2, OMIM:618940 Tags NGS Not Validated STR
Red List (low evidence)	GJA1 Intellectual disability v9.288	5 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	GJA3 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cataract 14, multiple types, 601885 Tags
Red List (low evidence)	GJA8 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cataract 1, multiple types, 116200 Tags
Red List (low evidence)	GJB2 Intellectual disability v9.288	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Deafness, autosomal recessive 1A, 220290 Deafness, autosomal dominant 3A, 601544 Vohwinkel syndrome, 124500 Keratoderma, palmoplantar, with deafness, 148350 Keratitis-ichthyosis-deafness syndrome, 148210 Hystrix-like ichthyosis with deafness, 602540 Bart-Pumphrey syndrome, 149200 Tags
Red List (low evidence)	GLE1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Lethal congenital contracture syndrome 1, 253310 Arthrogryposis, lethal, with anterior horn cell disease, 611890 Tags
Red List (low evidence)	GLMN Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Glomuvenous malformations, 138000 Tags
Red List (low evidence)	GLRA1 Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Literature Phenotypes Hyperekplexia developmental delay infantile spasms and generalized tonic-clonic seizures Tags
Red List (low evidence)	GLS_GCA STR Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 Tags NGS Not Validated STR
Red List (low evidence)	GLS_GCA STR Intellectual disability v9.288	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 Tags NGS Not Validated STR
Red List (low evidence)	GLUD1 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	GNAI3 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Auriculocondylar syndrome 1, 602483 Tags
Red List (low evidence)	GNAL Intellectual disability v9.288	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Dystonia 25, 615073 Tags
Red List (low evidence)	GNE Congenital myopathy v6.45	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Nonaka myopathy, OMIM:605820 Tags
Red List (low evidence)	GORAB Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Geroderma osteodysplasticum Tags
Red List (low evidence)	GOSR2 Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Epilepsy, progressive myoclonic 6, 614018 Tags
Red List (low evidence)	GPHN Intellectual disability v9.288	4 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Molybdenum cofactor deficiency C, OMIM:615501 Tags Autism Spectrum Disorder deletions treatable
Red List (low evidence)	GPR179 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 Tags
Red List (low evidence)	GPRASP1 Intellectual disability v9.288	3 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 Red Expert Review Red Tags
Red List (low evidence)	GRB14 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	GRHL3 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Van der Woude syndrome 2, 606713 Tags
Red List (low evidence)	GRIP1 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	GRM6 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 Tags
Red List (low evidence)	GRN Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 Aphasia, primary progressive, 607485 Ceroid lipofuscinosis, neuronal, 11, 614706 Tags
Red List (low evidence)	GSPT2 Intellectual disability v9.288	5 reviews 2 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes XL INTELLECTUAL DISABILITY Tags watchlist
Red List (low evidence)	GTPBP8 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	GUCY2C Intellectual disability v9.288	5 reviews 1 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Diarrhea 6, 614616 Meconium ileus, 614665 Tags
Red List (low evidence)	GYG1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Glycogen storage disease XV, 613507 Tags
Red List (low evidence)	GYS2 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	HADH Intellectual disability v9.288	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Hyperinsulinemic hypoglycemia, familial, 4, 609975 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 Tags
Red List (low evidence)	HAL Likely inborn error of metabolism v8.92	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Red Phenotypes Histidinaemia (Disorders of histidine, tryptophan or lysine metabolism) Tags
Red List (low evidence)	HARS2 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	HAUS7 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	HDAC6 Intellectual disability v9.288	3 reviews 2 red	Not set	Sources Expert Review Red Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 300863 Tags
Red List (low evidence)	HIST1H4B Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags new-gene-name
Red List (low evidence)	HIST1H4D Intellectual disability v9.288	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Global developmental delay Intellectual disability Microcephaly Growth abnormality Abnormality of the face Tags new-gene-name
Red List (low evidence)	HIST1H4F Intellectual disability v9.288	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Global developmental delay Intellectual disability Microcephaly Growth abnormality Abnormality of the face Tags new-gene-name
Red List (low evidence)	HIST3H3 Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags new-gene-name
Red List (low evidence)	HMGB3 Intellectual disability v9.288	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes Microphthalmia, syndromic 13, 300915 Intellectual disability Tags
Red List (low evidence)	HMGCS2 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes HMG-CoA synthase-2 deficiency, 605911 Tags
Red List (low evidence)	HMGXB4 Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Intellectual disability, developmental delay, and dysmorphic features Tags
Red List (low evidence)	HNF4A Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes MODY, type I, 125850 {Diabetes mellitus, noninsulin-dependent}, 125853 Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 Tags
Red List (low evidence)	HNRNPA1 Congenital myopathy v6.45	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, OMIM:615424 Tags
Red List (low evidence)	HOXA13 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Hand-foot-uterus syndrome, 140000 Guttmacher syndrome, 176305 Tags
Red List (low evidence)	HOXC13 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ectodermal dysplasia 9, hair/nail type, 614931 Tags
Red List (low evidence)	HOXD10 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	HOXD13 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Synpolydactyly, type II, 186000 Brachydactyly, type E, 113300 Brachydactyly, type D, 113200 Synpolydactyly with foot anomalies, 186000 Syndactyly, type V, 186300 Brachydactyly-syndactyly syndrome, 610713 ?VACTERL association, 192350 Tags
Red List (low evidence)	HPGD Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cranioosteoarthropathy, 259100 Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 Digital clubbing, isolated congenital, 119900 Tags
Red List (low evidence)	HPS1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Hermansky-Pudlak syndrome 1, 203300 Tags
Red List (low evidence)	HPSE2 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Urofacial syndrome 1, 236730 Tags
Red List (low evidence)	HR Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Alopecia universalis, 203655 Atrichia with papular lesions, 209500 Hypotrichosis 4, 146550 Tags
Red List (low evidence)	HRAS Congenital myopathy v6.45	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Costello syndrome, OMIM:218040 Congenital myopathy with excess of muscle spindles, OMIM:218040 Tags
Red List (low evidence)	HS6ST2 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	HSD3B7 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Bile acid synthesis defect, congenital, 1, 607765 Tags
Red List (low evidence)	HSF4 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cataract 5, multiple types, OMIM:116800 Tags
Red List (low evidence)	HSPB3 Paediatric motor neuronopathies v3.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Phenotypes ?Neuronopathy, distal hereditary motor, type IIC 613376 Tags
Red List (low evidence)	HTRA2 Congenital myopathy v6.45	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Literature Phenotypes 3-methylglutaconic aciduria, type VIII, OMIM:617248 Tags
Red List (low evidence)	HYAL1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Mucopolysaccharidosis type IX, 601492 Tags
Red List (low evidence)	HYDIN Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes CILIARY DYSKINESIA, PRIMARY, 5 CILD5 Tags
Red List (low evidence)	HYKK Likely inborn error of metabolism v8.92	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism) Tags
Red List (low evidence)	HYLS1 Intellectual disability v9.288	7 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes HYDROLETHALUS SYNDROME TYPE 1 (HLS1) Tags
Red List (low evidence)	IARS2 Intellectual disability v9.288	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, OMIM:616007 Tags
Red List (low evidence)	IDH3B Likely inborn error of metabolism v8.92	2 reviews	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	IFITM5 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Osteogenesis imperfecta, type V, 610967 Tags
Red List (low evidence)	IFNAR2 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	IFT122 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cranioectodermal dysplasia 1, 218330 Tags
Red List (low evidence)	IFT140 Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 Tags
Red List (low evidence)	IFT80 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes NA Tags
Red List (low evidence)	IGBP1 Intellectual disability v9.288	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Red Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia Tags
Red List (low evidence)	IGF2 Intellectual disability v9.288	4 reviews 1 green 1 red	Other - please specify in evaluation comments	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Beckwith-Wiedemann Syndrome Chromosome 11p15.5-Related Russell-Silver Syndrome Tags
Red List (low evidence)	IGHMBP2 Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Neuronopathy, distal hereditary motor, type VI, 604320 Charcot-Marie-Tooth disease, axonal, type 2S, 616155 Tags
Red List (low evidence)	IGSF1 Intellectual disability v9.288	5 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes Hypothyroidism, central and testicular enlargement Tags
Red List (low evidence)	IHH Intellectual disability v9.288	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Acrocapitofemoral dysplasia, OMIM:607778 Brachydactyly, type A1, OMIM:112500 Tags
Red List (low evidence)	IL11RA Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Crouzon-like craniosynostosis Autosomal Recessive Craniosynostosis Tags
Red List (low evidence)	IL3RA Intellectual disability v9.288	4 reviews 3 red	Unknown	Sources Expert Review Red Tags Pseudoautosomal region 1
Red List (low evidence)	ILF2 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	IMPAD1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Chondrodysplasia with joint dislocations, GRAPP type, 614078 Tags new-gene-name
Red List (low evidence)	INF2 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Glomerulosclerosis, focal segmental, 5, 613237Charcot-Marie-Tooth disease, dominant intermediate E, 614455 Tags
Red List (low evidence)	INPPL1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Opsismodysplasia, 258480 Tags
Red List (low evidence)	INSR Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	INTS6 Intellectual disability v9.288	2 reviews 1 red	Not set	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	INTS6L Intellectual disability v9.288	4 reviews 3 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 Red Tags
Red List (low evidence)	INTS8 Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Literature Phenotypes ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, OMIM:618572 Tags
Red List (low evidence)	IQSEC3 Intellectual disability v9.288	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Intellectual disability Tags
Red List (low evidence)	IRAK1 Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red UKGTN Phenotypes Lubs X-Linked Mental Retardation Syndrome MRXSL Tags
Red List (low evidence)	IRF6 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes van der Woude syndrome, 119300 Popliteal pterygium syndrome 1, 119500 Orofacial cleft 6, 608864 Tags
Red List (low evidence)	ISCU Congenital myopathy v6.45	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myopathy with lactic acidosis, hereditary, OMIM:255125 Tags
Red List (low evidence)	ITCH Intellectual disability v9.288	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Autoimmune disease, multisystem, with facial dysmorphism, 613385 Tags
Red List (low evidence)	ITGA3 Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 Tags
Red List (low evidence)	ITGA4 Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	ITGB6 Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Alopecia with mental retardation (APMR) mild-to-moderate intellectual disability, adolescent alopecia and dentogingival abnormalities Tags
Red List (low evidence)	ITIH6 Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	JAG1 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Alagille syndrome 1, OMIM:118450 Tags
Red List (low evidence)	JAGN1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes NA Tags
Red List (low evidence)	JAK3 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes SCID, autosomal recessive, T-negative/B-positive type, 600802 Tags
Red List (low evidence)	JPH3 Intellectual disability v9.288	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 Paroxysmal dystonia, MONDO:0016058 Tags
Red List (low evidence)	KANK1 Intellectual disability v9.288	3 reviews 3 red	Other - please specify in evaluation comments	Sources Expert Review Red Phenotypes CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 2 (CPSQ2) Tags
Red List (low evidence)	KATNAL2 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	KBTBD13 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Nemaline myopathy 6, autosomal dominant, 609273 Tags
Red List (low evidence)	KCND1 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	KCNE1 Intellectual disability v9.288	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Jervell and Lange-Nielsen syndrome 2, OMIM:612347 Long QT syndrome 5, OMIM:613695 Tags
Red List (low evidence)	KCNJ2 Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Short QT syndrome 3, OMIM:609622 Tags
Red List (low evidence)	KCNK12 Intellectual disability v9.288	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	KCNQ1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Long QT syndrome 1, 192500 Jervell and Lange-Nielsen syndrome, 220400 Atrial fibrillation, familial, 3, 607554 Short QT syndrome 2, 609621 {Long QT syndrome 1, acquired, susceptibility to}, 192500 Tags
Red List (low evidence)	KCTD1 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Scalp-ear-nipple syndrome, 181270 Tags
Red List (low evidence)	KCTD7 Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726 progressive myoclonic epilepsy type 3 MONDO:0012721 Tags
Red List (low evidence)	KHK Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Essential fructosuria (Disorders of fructose metabolism) Tags
Red List (low evidence)	KIF1B Intellectual disability v9.288	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hypotonia coloboma, MONDO:0001476 hypoplasia of the corpus callosum severe neurodevelopmental delay Tags
Red List (low evidence)	KIF1C Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spastic ataxia 2, autosomal recessive, OMIM:611302 Tags
Red List (low evidence)	KIF21A Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	KIF22 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 Tags
Red List (low evidence)	KIF26B Intellectual disability v9.288	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis Tags
Red List (low evidence)	KIT Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Piebaldism, 172800 Gastrointestinal stromal tumor, familial, 606764 Mast cell disease, 154800 Leukemia, acute myeloid, 601626 Germ cell tumors, 273300 Tags
Red List (low evidence)	KLF1 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Blood group--Lutheran inhibitor, 111150 [Hereditary persistence of fetal hemoglobin], 613566 Dyserythropoietic anemia, congenital, type IV, 613673 Tags
Red List (low evidence)	KLF8 Intellectual disability v9.288	3 reviews 3 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 Red Emory Genetics Laboratory Phenotypes Intellectual disability Tags
Red List (low evidence)	KLHL21 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	KLHL34 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	KLHL4 Intellectual disability v9.288	3 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 Red Expert Review Red Tags
Red List (low evidence)	KLHL40 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Nemaline myopathy 8, autosomal recessive, 615348 Tags
Red List (low evidence)	KLHL9 Congenital myopathy v6.45	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London South GLH Phenotypes Early onset distal myopathy Nemaline myopathy Tags
Red List (low evidence)	KLHL9 Distal myopathies v6.16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes distal myopathy (no OMIM number) Tags
Red List (low evidence)	KRIT1 Intellectual disability v9.288	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Red Phenotypes CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1 (CCM1) Tags
Red List (low evidence)	LACTB Likely inborn error of metabolism v8.92	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	LAMA5 Congenital myaesthenic syndrome v5.7	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Phenotypes myopia, facial tics, and failure of neuromuscular transmission Tags
Red List (low evidence)	LAMB2 Congenital myaesthenic syndrome v5.7	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Literature Phenotypes Congenital myasthenic syndrome congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations synaptic congenital myasthenic syndrome Tags
Red List (low evidence)	LBR Intellectual disability v9.288	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red Expert Review Red Phenotypes ?Reynolds syndrome Tags
Red List (low evidence)	LDB3 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Myopathy, myofibrillar, 4, 609452 Cardiomyopathy, dilated 1C, 601493 Left ventricular noncompaction 3, with or without dilated cardiomyopathy, 601493 Tags
Red List (low evidence)	LDB3 Congenital myopathy v6.45	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Myopathy, myofibrillar, 4, OMIM:609452 Tags
Red List (low evidence)	LEMD3 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Osteopoikilosis, 166700 Buschke-Ollendorff syndrome, 166700 Melorheostosis with osteopoikilosis, 155950 Tags
Red List (low evidence)	LFNG Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes ?Spondylocostal dysostosis 3, autosomal recessive, 609813 Tags
Red List (low evidence)	LGI1 Intellectual disability v9.288	5 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Phenotypes Epilepsy, familial temporal lobe, 1, OMIM:600512 developmental and epileptic encephalopathy, MONDO:0100620 Tags
Red List (low evidence)	LGI4 Congenital myopathy v6.45	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Other Literature Phenotypes Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, OMIM:617468 Tags
Red List (low evidence)	LGI4 Intellectual disability v9.288	4 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Arthrogryposis Multiplex Congenita Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 AMCNMY Intellectual disability Global developmental delay Tags
Red List (low evidence)	LHFPL3 Intellectual disability v9.288	3 reviews 2 red	Not set	Sources Expert Review Red Expert Review Red Tags
Red List (low evidence)	LHX3 Intellectual disability v9.288	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	LHX4 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Pituitary hormone deficiency, combined, 4, 262700 Tags
Red List (low evidence)	LIMK1 Intellectual disability v9.288	3 reviews 2 red	Not set	Sources Expert Review Red Phenotypes Williams-Beuren syndrome Tags
Red List (low evidence)	LIMS2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	6 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Yorkshire and North East GLH NHS GMS South West GLH Literature Phenotypes Muscular dystrophy, limb-girdle, type 2W, 616827 limb girdle muscular dystrophy cardiomyopathy triangular tongue Tags
Red List (low evidence)	LIPI Likely inborn error of metabolism v8.92	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Red Phenotypes {Hypertriglyceridemia, susceptibility to}, 145750 Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias) Tags
Red List (low evidence)	LITAF Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Charcot-Marie-Tooth disease, type 1C, 601098 Tags
Red List (low evidence)	LMX1B Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Nail-patella syndrome, 161200 Tags
Red List (low evidence)	LOXHD1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Deafness, autosomal recessive 77, 613079 Tags
Red List (low evidence)	LRAT Intellectual disability v9.288	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Phenotypes LEBER CONGENITAL AMAUROSIS Tags
Red List (low evidence)	LRP1 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	LRP4 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cenani-Lenz syndactyly syndrome, 212780 Sclerosteosis 2, 614305 Tags
Red List (low evidence)	LRRC6 Intellectual disability v9.288	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ciliary dyskinesia, primary, 19, 614935 Tags new-gene-name
Red List (low evidence)	LRRK1 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	LRRK2 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Parkinson disease 8, 607060 Tags
Red List (low evidence)	LTBP2 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Glaucoma 3, primary congenital, D, 613086 Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 Weill-Marchesani syndrome 3, recessive, 614819 Tags
Red List (low evidence)	LTBP3 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Tooth agenesis, selective, 6, 613097 Tags
Red List (low evidence)	LYST Intellectual disability v9.288	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Chediak-Higashi syndrome, 214500 Tags
Red List (low evidence)	MACC1 Intellectual disability v9.288	1 review	Unknown	Sources Other Tags watchlist
Red List (low evidence)	MAFB Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Duane retraction syndrome 3 (617041) Multicentric carpotarsal osteolysis syndrome (166300) Tags
Red List (low evidence)	MAGEA11 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	MAGEB1 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	MAGEB10 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	MAGEB2 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	MAGEC1 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	MAGEC3 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	MAGED1 Intellectual disability v9.288	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes X-linked syndrome characterized by intellectual disability Tags
Red List (low evidence)	MAGEE2 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	MAGI2 Intellectual disability v9.288	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Epileptic encephalopathy Infantile spasms Tags
Red List (low evidence)	MAGIX Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	MAGT1 Intellectual disability v9.288	4 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 Tags
Red List (low evidence)	MAOB Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	MAP3K1 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes 46XY sex reversal 6, 613762 Tags
Red List (low evidence)	MAP3K15 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	MAP3K7 Intellectual disability v9.288	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Literature Phenotypes Frontometaphyseal dysplasia 2, 617137 Tags
Red List (low evidence)	MAP7D3 Intellectual disability v9.288	3 reviews 3 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 Red Phenotypes Intellectual disability Tags
Red List (low evidence)	MAPT Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Dementia, frontotemporal, with or without parkinsonism, 600274 Pick disease, 172700 Supranuclear palsy, progressive, 601104 Supranuclear palsy, progressive atypical, 260540 {Parkinson disease, susceptibility to}, 168600 Tags
Red List (low evidence)	MARS2 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes ?Combined oxidative phosphorylation deficiency 25 (616430) (global developmental delay) Tags
Red List (low evidence)	MATN3 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Epiphyseal dysplasia, multiple, 5, 607078 {Osteoarthritis susceptibility 2}, 140600 Spondyloepimetaphyseal dysplasia, 608728 Tags
Red List (low evidence)	MATR3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Amyotrophic lateral sclerosis 21, 606070 ALS myofibrillar myopathy Tags
Red List (low evidence)	MATR3 Congenital myopathy v6.45	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Amyotrophic lateral sclerosis 21, OMIM:606070 Tags adult-onset
Red List (low evidence)	MB Congenital myopathy v6.45	3 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Phenotypes Myopathy, sarcoplasmic body, OMIM:620286 Tags
Red List (low evidence)	MBNL3 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	MC2R Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 Tags
Red List (low evidence)	MCEE Intellectual disability v9.288	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Phenotypes Methylmalonyl-CoA epimerase deficiency Tags
Red List (low evidence)	MCM9 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	MECR Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Childhood-Onset Dystonia and Optic Atrophy Tags
Red List (low evidence)	MEG3 Paediatric motor neuronopathies v3.12	2 reviews	Not set	Sources Expert Review Red Tags locus-type-rna-long-non-coding
Red List (low evidence)	MEGF10 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	MEGF8 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	MESP2 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spondylocostal dysostosis 2, autosomal recessive, 608681 Tags
Red List (low evidence)	MET Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	METAP1 Intellectual disability v9.288	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual disability, aggression, neurodevelopmental delay Tags
Red List (low evidence)	MFRP Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes NA Tags
Red List (low evidence)	MGAT5B Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	MGP Intellectual disability v9.288	6 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Keutel syndrome 245150 Tags
Red List (low evidence)	MIB1 Intellectual disability v9.288	4 reviews 4 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	MITF Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Waardenburg syndrome, type 2A, 193510 Waardenburg syndrome/ocular albinism, digenic, 103470 Tietz albinism-deafness syndrome, 103500 {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456 Tags
Red List (low evidence)	MLH1 Intellectual disability v9.288	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mismatch repair cancer syndrome Tags
Red List (low evidence)	MMP13 Intellectual disability v9.288	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spondyloepimetaphyseal dysplasia, Missouri type, 602111 Metaphyseal anadysplasia 1, 602111 Tags
Red List (low evidence)	MMP21 Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Heterotaxy, visceral, 7, autosomal 616749 Tags
Red List (low evidence)	MNX1 Intellectual disability v9.288	6 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	MORC4 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	MPDZ Intellectual disability v9.288	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Phenotypes Hydrocephalus, nonsyndromic, autosomal recessive 2 Tags
Red List (low evidence)	MPI Intellectual disability v9.288	7 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ib, OMIM:602579 MPI-CDG, MONDO:0011257 Tags
Red List (low evidence)	MPZ Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Red Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Associated with Charcot-Marie-Tooth disease, dominant intermediate D ( 607791) Charcot-Marie-Tooth disease, type 1B Tags
Red List (low evidence)	MRAP Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	MRE11 Intellectual disability v9.288	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Nijmegen breakage syndrome-like severe microcephaly, Intellectual disability Tags
Red List (low evidence)	MRPL12 Likely inborn error of metabolism v8.92	4 reviews 1 green 2 red	Unknown	Sources Expert list Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) No OMIM phenotype Tags
Red List (low evidence)	MRPL40 Likely inborn error of metabolism v8.92	2 reviews 1 red	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	MRPS23 Likely inborn error of metabolism v8.92	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes hepatic disease and combined respiratory chain complex deficiencies Tags
Red List (low evidence)	MSX1 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ectodermal dysplasia 3, Witkop type, OMIM:189500 Orofacial cleft 5, OMIM:608874 Tooth agenesis, selective, 1, with or without orofacial cleft, OMIM:106600 Tags
Red List (low evidence)	MSX2 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Craniosynostosis, type 2, 604757 Parietal foramina 1, 168500 Parietal foramina with cleidocranial dysplasia, 168550 Tags
Red List (low evidence)	MT-ATP6 Intellectual disability v9.288	3 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Red Expert Review Red Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes n/a Tags
Red List (low evidence)	MT-ND1 Intellectual disability v9.288	2 reviews 1 green 1 red	MITOCHONDRIAL	Sources Expert Review Red Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Leber optic atrophy Sudden infant death syndrome Mitochondrial complex I deficiency Dystonia, adult-onset Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome MELAS syndrome Deafness, nonsyndromic sensorineural, mitochondrial Tags
Red List (low evidence)	MT-ND4 Intellectual disability v9.288	4 reviews 1 green 1 red	MITOCHONDRIAL	Sources Expert Review Red Expert Review Red Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Mitochondrial complex I deficiency autism spectrum disorder intellectual disability Tags cnv
Red List (low evidence)	MT-TE Congenital myopathy v6.45	2 reviews 1 green 1 red	MITOCHONDRIAL	Sources NHS GMS Expert Review Red Literature Phenotypes inborn mitochondrial myopathy, MONDO:0009637 congenital myopathy, MONDO:0019952 Tags locus-type-rna-transfer
Red List (low evidence)	MT-TK Congenital myopathy v6.45	2 reviews 1 green 1 red	MITOCHONDRIAL	Sources NHS GMS Expert Review Red Literature Phenotypes MERRF syndrome, MONDO:0010790 inborn mitochondrial myopathy, MONDO:0009637 Tags locus-type-rna-transfer
Red List (low evidence)	MT-TK Intellectual disability v9.288	4 reviews 1 green 1 red	MITOCHONDRIAL	Sources Expert Review Red Expert Review Red Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes MERRF syndrome 545000 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME Tags
Red List (low evidence)	MT-TL1 Congenital myopathy v6.45	4 reviews 1 green 3 red	MITOCHONDRIAL	Sources NHS GMS Expert Review Red UKGTN Phenotypes MELAS syndrome caused by mutation in MTTL1, MONDO:0800032 inborn mitochondrial myopathy, MONDO:0009637 Tags locus-type-rna-transfer
Red List (low evidence)	MT-TN Congenital myopathy v6.45	2 reviews 1 green 1 red	MITOCHONDRIAL	Sources NHS GMS Expert Review Red Literature Phenotypes inborn mitochondrial myopathy, MONDO:0009637 Tags locus-type-rna-transfer
Red List (low evidence)	MT-TP Intellectual disability v9.288	5 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Red Tags locus-type-rna-transfer
Red List (low evidence)	MT-TW Congenital myopathy v6.45	2 reviews 1 green 1 red	MITOCHONDRIAL	Sources NHS GMS Expert Review Red Literature Phenotypes inborn mitochondrial myopathy, MONDO:0009637 Tags locus-type-rna-transfer
Red List (low evidence)	MTF1 Intellectual disability v9.288	4 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes INTELLECTUAL DISABILITY Tags
Red List (low evidence)	MTHFD1 Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes {Abruptio placentae, susceptibility to} {Spina bifida, folate-sensitive, susceptibility to} 601634 AR Tags
Red List (low evidence)	MTM1 Intellectual disability v9.288	4 reviews 1 green 2 red	Not set	Sources Expert Review Red Expert Review Red Emory Genetics Laboratory Phenotypes Myopathy, centronuclear, X-linked, OMIM:310400 Tags
Red List (low evidence)	MTMR1 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	MTMR14 Intellectual disability v9.288	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Gene2Phenotype Phenotypes {Centronuclear myopathy, autosomal, modifier of}, 160150 Autosomal dominant centronuclear myopathy Tags
Red List (low evidence)	MTMR2 Intellectual disability v9.288	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Charcot-Marie-Tooth disease, type 4B, 601382 Tags
Red List (low evidence)	MTMR8 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	MTPAP Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes ?Spastic ataxia 4, autosomal recessive Tags
Red List (low evidence)	MTTP Intellectual disability v9.288	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Abetalipoproteinemia, 200100 Tags
Red List (low evidence)	MXRA5 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	MYBPC1 Intellectual disability v9.288	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Arthrogryposis, distal, type 1B 614335 AD Lethal congenital contracture syndrome 4 614915 AR Tags
Red List (low evidence)	MYF6 Congenital myopathy v6.45	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Centronuclear Myopathy, Dominant Tags
Red List (low evidence)	MYH14 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 Tags
Red List (low evidence)	MYH14 Congenital myopathy v6.45	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, OMIM:614369 Tags
Red List (low evidence)	MYH3 Intellectual disability v9.288	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	MYH6 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cardiomyopathy, familial hypertrophic, 14, 613251 Atrial septal defect 3, 614089 Cardiomyopathy, dilated, 1EE, 613252 {Sick sinus syndrome 3}, 614090 Tags
Red List (low evidence)	MYH8 Congenital myopathy v6.45	7 reviews 2 green 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS London South GLH Expert UKGTN Phenotypes Trismus-pseudocamptodactyly syndrome, OMIM:158300 Tags
Red List (low evidence)	MYH8 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Carney complex variant, 608837 Trismus-pseudocamptodactyly syndrome, 158300 Tags
Red List (low evidence)	MYH9 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes May-Hegglin anomaly, 155100 Fechtner syndrome, 153640 Sebastian syndrome, 605249 Deafness, autosomal dominant 17, 603622 Epstein syndrome, 153650 Macrothrombocytopenia and progressive sensorineural deafness, 600208 Tags
Red List (low evidence)	MYMK Congenital muscular dystrophy v6.8	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Literature Phenotypes Carey-Fineman-Ziter syndrome, OMIM:254940 Carey-Fineman-Ziter syndrome, MONDO:0009700 Tags
Red List (low evidence)	MYO1D Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	MYO1G Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	MYO1H Intellectual disability v9.288	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Red Phenotypes ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482 Tags
Red List (low evidence)	MYO5B Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Diarrhea 2, with microvillus atrophy, OMIM:251850 Tags
Red List (low evidence)	MYO7A Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype both DD and IF gene with ID HPO Tags
Red List (low evidence)	MYOT Congenital myopathy v6.45	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Myopathy, myofibrillar, 3, OMIM:609200 Myopathy, spheroid body, OMIM:182920 Tags
Red List (low evidence)	MYT1 Intellectual disability v9.288	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual disability, MONDO:0001071 Tags
Red List (low evidence)	NAA60 Intellectual disability v9.288	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Basal ganglia calcification, idiopathic, 9, autosomal recessive, OMIM:620786 basal ganglia calcification, idiopathic, 9, autosomal recessive, MONDO:0968977 Tags
Red List (low evidence)	NADK2 Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Literature Phenotypes 2,4-dienoyl-CoA reductase deficiency, OMIM:616034 Tags
Red List (low evidence)	NAT8L Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?N-acetylaspartate deficiency 614063 Tags
Red List (low evidence)	NCAPH Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Microcephaly 23, primary, autosomal recessive, 617985 Tags watchlist
Red List (low evidence)	NDN Intellectual disability v9.288	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Phenotypes Smith-Magenis-like syndrome Tags
Red List (low evidence)	NDRG1 Intellectual disability v9.288	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Charcot-Marie-Tooth disease, type 4D, 601455 Tags
Red List (low evidence)	NDUFA10 Intellectual disability v9.288	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Gene2Phenotype Phenotypes Leigh syndrome, 256000 Leigh disease with leukodystrophy Nuclear Gene-Encoded Leigh syndrome Tags
Red List (low evidence)	NDUFA11 Intellectual disability v9.288	3 reviews 2 red	Not set	Sources Expert Review Red Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex I deficiency 252010 Tags
Red List (low evidence)	NDUFA12 Intellectual disability v9.288	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 Tags
Red List (low evidence)	NDUFA3 Likely inborn error of metabolism v8.92	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Leigh syndrome Tags
Red List (low evidence)	NDUFA5 Likely inborn error of metabolism v8.92	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	NDUFA7 Likely inborn error of metabolism v8.92	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	NDUFA9 Intellectual disability v9.288	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Gene2Phenotype Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000 Leigh disease with leukodystrophy Nuclear Gene-Encoded Leigh syndrome Tags
Red List (low evidence)	NDUFAB1 Likely inborn error of metabolism v8.92	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	NDUFAF3 Intellectual disability v9.288	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Literature Phenotypes Mitochondrial complex I deficiency Tags
Red List (low evidence)	NDUFB1 Likely inborn error of metabolism v8.92	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	NDUFB2 Likely inborn error of metabolism v8.92	1 review	Unknown	Sources Expert Review Red Phenotypes Isolated complex I deficiency Tags
Red List (low evidence)	NDUFB4 Likely inborn error of metabolism v8.92	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	NDUFB5 Likely inborn error of metabolism v8.92	1 review	Unknown	Sources Expert Review Red Phenotypes Isolated complex I deficiency Tags
Red List (low evidence)	NDUFB6 Likely inborn error of metabolism v8.92	1 review	Unknown	Sources Expert Review Red Phenotypes Isolated complex I deficiency Tags
Red List (low evidence)	NDUFC1 Likely inborn error of metabolism v8.92	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	NDUFS2 Intellectual disability v9.288	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex I deficiency Tags
Red List (low evidence)	NDUFS3 Intellectual disability v9.288	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Leigh syndrome due to mitochondrial complex I deficiency Tags
Red List (low evidence)	NDUFS5 Likely inborn error of metabolism v8.92	2 reviews	Unknown	Sources Expert Review Red Phenotypes Mitochondrial Diseases No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	NDUFV3 Likely inborn error of metabolism v8.92	2 reviews	Unknown	Sources Expert Review Red Phenotypes Mitochondrial Diseases No OMIM phenotype Isolated complex I deficiency Tags
Red List (low evidence)	NEB Intellectual disability v9.288	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Gene2Phenotype Phenotypes Nemaline myopathy 2, autosomal recessive, 256030 Tags
Red List (low evidence)	NEB Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Nemaline myopathy 2, autosomal recessive, 256030 congenital myopathy Tags
Red List (low evidence)	NECAB2 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	NECTIN1 Intellectual disability v9.288	3 reviews 2 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Cleft lip/palate-ectodermal dysplasia syndrome, 225060Orofacial cleft 7, 225060 CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME Tags
Red List (low evidence)	NEFL Intellectual disability v9.288	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Charcot Marie Tooth disease, type 2E, 607684 Charcot Marie Tooth disease, type 1F, 607734 Tags
Red List (low evidence)	NEK1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 Tags
Red List (low evidence)	NGF Intellectual disability v9.288	1 review 1 red	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	NHEJ1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, OMIM:611291 Tags
Red List (low evidence)	NHLRC1 Intellectual disability v9.288	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Epilepsy, progressive myoclonic 2B (Lafora), 254780 Tags
Red List (low evidence)	NIPA1 Intellectual disability v9.288	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spastic paraplegia 6, autosomal dominant, 600363 Non Imprinted In Prader-Willi/Angelman Syndrome 1 Tags
Red List (low evidence)	NKX2-5 Intellectual disability v9.288	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Atrial septal defect 7, with or without AV conduction defects, 108900 Tetrology of Fallot, 187500 Hypothyroidism, congenital nongoitrous, 5, 225250 Ventricular septal defect 3, 614432 Hypoplastic left heart syndrome 2, 614435 Conotruncal heart malformations, variable, 217095 Tags
Red List (low evidence)	NKX3-2 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 Tags
Red List (low evidence)	NLGN4X Intellectual disability v9.288	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Red Emory Genetics Laboratory Phenotypes SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2 (AUTSX2) Tags
Red List (low evidence)	NLRP3 Intellectual disability v9.288	4 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes CINCA syndrome, OMIM:607115 Tags
Red List (low evidence)	NMNAT1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Leber congenital amaurosis 9, 608553 Tags
Red List (low evidence)	NODAL Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Heterotaxy, visceral, 5, 270100 Tags
Red List (low evidence)	NOG Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Symphalangism, proximal, 185800 Multiple synostoses syndrome 1, 186500 Tarsal-carpal coalition syndrome, 186570 Stapes ankylosis with broad thumb and toes, 184460 Brachydactyly, type B2, 611377 Tags
Red List (low evidence)	NOP56 Intellectual disability v9.288	3 reviews 1 green 1 red	Other	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	NOTCH2 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Alagille syndrome 2, 610205 Hajdu-Cheney syndrome, 102500 Tags
Red List (low evidence)	NPHP4 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Nephronophthisis 4, 606966 Senior-Loken syndrome 4, 606996 Tags
Red List (low evidence)	NPHS1 Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Nephrotic syndrome, type 1, 256300 Tags
Red List (low evidence)	NPHS2 Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Nephrotic syndrome, type 2, 600995 Tags
Red List (low evidence)	NPR2 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Acromesomelic dysplasia, Maroteaux type, 602875 Epiphyseal chondrodysplasia, Miura type, 615923 Tags
Red List (low evidence)	NPR3 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	NR1I3 Intellectual disability v9.288	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes EHMT1-like Intellectual disability Tags
Red List (low evidence)	NR5A1 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes 46XY sex reversal 3, 612965 Premature ovarian failure 7, 612964 Adrenocortical insufficiency Spermatogenic failure 8, 613957 Tags
Red List (low evidence)	NRK Intellectual disability v9.288	3 reviews 3 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 Red Phenotypes Hypermobility syndrome Sotos syndrome Tags
Red List (low evidence)	NRXN2 Intellectual disability v9.288	5 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes autism spectrum disorder intellectual disability Tags Autism Spectrum Disorder cnv
Red List (low evidence)	NRXN3 Intellectual disability v9.288	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Autism spectrum disorder Tags microdeletion
Red List (low evidence)	NSF Intellectual disability v9.288	4 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Developmental and epileptic encephalopathy 96, OMIM:619340 Tags
Red List (low evidence)	NT5C Likely inborn error of metabolism v8.92	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism) Tags
Red List (low evidence)	NTM Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	NTNG1 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	NUP62 Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Infantile striatal necrosis (Other metabolic disorders) Striatonigral degeneration, infantile, 271930 Tags
Red List (low evidence)	NXF4 Intellectual disability v9.288	4 reviews 3 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 Red Phenotypes Intellectual Disability Tags locus-type-pseudogene
Red List (low evidence)	NXF5 Intellectual disability v9.288	4 reviews 3 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 Red Phenotypes Intellectual Disability Tags
Red List (low evidence)	OBSL1 Intellectual disability v9.288	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes 3-M Syndrome 2, 612921 Tags
Red List (low evidence)	ODF2L Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	OR5M1 Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Intellectual disability Tags
Red List (low evidence)	ORC1 Intellectual disability v9.288	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Meier-Gorlin syndrome 1, OMIM:224690 Tags
Red List (low evidence)	ORC4 Intellectual disability v9.288	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Meier-Gorlin syndrome 2, OMIM:613800 Tags
Red List (low evidence)	ORC6 Intellectual disability v9.288	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Meier-Gorlin syndrome 3, OMIM:613803 Tags
Red List (low evidence)	OSTC Likely inborn error of metabolism v8.92	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Oligosaccharyltransferase complex-congenital disorders of glycosylation Tags
Red List (low evidence)	OTOGL Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Deafness, autosomal recessive 84B, 614944 Tags
Red List (low evidence)	OTULIN Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099 Tags
Red List (low evidence)	OXA1L Likely inborn error of metabolism v8.92	2 reviews	Unknown	Sources Expert Review Red Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	OXCT1 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Succinyl-CoA: 3-Oxoacid CoA Transferase (SCOT) Deficiency SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY Tags
Red List (low evidence)	P2RY4 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	P2RY8 Intellectual disability v9.288	4 reviews 3 red	Unknown	Sources Expert Review Red Tags Pseudoautosomal region 1
Red List (low evidence)	P3H1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	P4HB Intellectual disability v9.288	4 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Red Phenotypes COLE-CARPENTER SYNDROME Tags
Red List (low evidence)	PABPC5 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	PABPN1 Congenital muscular dystrophy v6.8	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Oculopharyngeal muscular dystrophy, OMIM:164300 Tags nucleotide-repeat-expansion
Red List (low evidence)	PALB2 Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Fanconi anemia, complementation group N, 610832 {Breast cancer, susceptibility to}, 114480 {Pancreatic cancer, susceptibility to, 3}, 613348 Tags
Red List (low evidence)	PANK2 Intellectual disability v9.288	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Neurodegeneration with brain iron accumulation 1, 234200 HARP syndrome, 607236 Tags
Red List (low evidence)	PAPSS2 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 Tags
Red List (low evidence)	PARK7 Intellectual disability v9.288	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Parkinson disease 7, autosomal recessive early-onset, 606324 Tags
Red List (low evidence)	PARP1 Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red List (low evidence)	PASD1 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	PAX2 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	PAX3 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Waardenburg syndrome, type 1, 193500 Waardenburg syndrome, type 3, 148820 Craniofacial-deafness-hand syndrome, 122880 Rhabdomyosarcoma 2, alveolar, 268220 Tags
Red List (low evidence)	PAX6 Intellectual disability v9.288	6 reviews 3 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Red Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Aniridia, Cerebellar Ataxia, And Mental Retardation Aniridia, 106210Peters anomaly, 604229Cataract with late-onset corneal dystrophy, 106210Keratitis, 148190Foveal hyperplasia, 136520Morning glory disc anomaly, 120430Optic nerve hypoplasia, 165550Coloboma, ocular, 120200Coloboma of optic nerve, 120430Gillespie syndrome, 206700 KERATITIS HEREDITARY (KERH) Tags
Red List (low evidence)	PAX7 Intellectual disability v9.288	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypotonia Axial hypotonia Ptosis Scoliosis Delayed motor milestones Myopathy, congenital, progressive, with scoliosis, 618578 Tags
Red List (low evidence)	PAX9 Intellectual disability v9.288	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Tooth agenesis, selective, 3, 604625 Tags
Red List (low evidence)	PBRM1 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	PCBD1 Intellectual disability v9.288	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D Tags
Red List (low evidence)	PCDH10 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Victorian Clinical Genetics Services Expert Review Red Tags
Red List (low evidence)	PCLO Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Literature Phenotypes Pontocerebellar hypoplasia, type 3 Tags
Red List (low evidence)	PCYT1A Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 Tags
Red List (low evidence)	PCYT2 Likely inborn error of metabolism v8.92	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Global developmental delay Developmental regression Intellectual disability Spastic paraparesis Seizures Spastic tetraparesis Cerebral atrophy Cerebellar atrophy Tags
Red List (low evidence)	PDCD10 Intellectual disability v9.288	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3 (CCM3) Tags
Red List (low evidence)	PDE6G Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Retinitis pigmentosa 57, 613582 Tags
Red List (low evidence)	PDGFB Intellectual disability v9.288	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Meningioma, SIS-related, 607174 Dermatofibrosarcoma protuberans, 607907 Basal ganglia calcification, idiopathic, 5, 615483 Tags
Red List (low evidence)	PDK1 Likely inborn error of metabolism v8.92	3 reviews 1 green 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes No OMIM phenotype Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) Tags
Red List (low evidence)	PDK2 Likely inborn error of metabolism v8.92	2 reviews 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes No OMIM phenotype Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) Tags
Red List (low evidence)	PDK4 Likely inborn error of metabolism v8.92	2 reviews 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes No OMIM phenotype Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) Tags
Red List (low evidence)	PDP2 Likely inborn error of metabolism v8.92	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) Tags
Red List (low evidence)	PDPR Likely inborn error of metabolism v8.92	5 reviews 1 green 1 red	Unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) Tags
Red List (low evidence)	PDXK Likely inborn error of metabolism v8.92	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Pryridoxal kinase deficiency (Disorders of pyridoxine metabolism) Tags
Red List (low evidence)	PDYN Intellectual disability v9.288	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spinocerebellar ataxia 23, 610245 Tags
Red List (low evidence)	PECR Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red List (low evidence)	PEX11A Likely inborn error of metabolism v8.92	1 review 1 red	Unknown	Sources Expert Review Red Literature Phenotypes Zellweger syndrome peroxisome proliferation mild peroxisomal biogenesis defect Tags
Red List (low evidence)	PGK1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Phosphoglycerate kinase 1 deficiency, 300653 Tags
Red List (low evidence)	PGM1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Congenital disorder of glycosylation, type It, 614921 Tags
Red List (low evidence)	PGRMC1 Intellectual disability v9.288	4 reviews 3 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 Red Tags
Red List (low evidence)	PHC1 Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Microcephaly 11, primary, autosomal recessive, 615414 MCPH11 Intellectural disability Tags watchlist
Red List (low evidence)	PHF10 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	PHKA1 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	PHKA2 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	PHKB Rhabdomyolysis and metabolic muscle disorders v5.14	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Literature Phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 Tags
Red List (low evidence)	PHKG1 Likely inborn error of metabolism v8.92	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	PHKG1 Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 2 red	Not set	Sources UKGTN Tags
Red List (low evidence)	PHKG2 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	PHOX2B Intellectual disability v9.288	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE Tags
Red List (low evidence)	PHYKPL Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism) [?Phosphohydroxylysinuria] 615011 Tags
Red List (low evidence)	PIEZO2 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	PIGF Intellectual disability v9.288	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Glycosylphosphatidylinositol deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures Tags founder-effect
Red List (low evidence)	PIGY Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Literature Phenotypes Hyperphosphatasia with mental retardation syndrome 6 Tags
Red List (low evidence)	PIK3C3 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	PIK3R1 Intellectual disability v9.288	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes ?Agammaglobulinemia 7, autosomal recessive, 615214 SHORT syndrome, 269880 Immunodeficiency 36, 616005 Tags
Red List (low evidence)	PIN4 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	PINK1 Intellectual disability v9.288	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Parkinson disease 6, early onset, 605909 Tags
Red List (low evidence)	PITX2 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Axenfeld-Rieger syndrome, type 1, 180500 Iridogoniodysgenesis, type 2, 137600 Ring dermoid of cornea, 180550 Peters anomaly, 604229 Tags
Red List (low evidence)	PITX3 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Anterior segment mesenchymal dysgenesis, 107250 Cataract 11, multiple types, 610623 Cataract 11, syndromic, 610623 Tags
Red List (low evidence)	PKD1L1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Laterality defects Tags
Red List (low evidence)	PKHD1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200 Tags
Red List (low evidence)	PLCE1 Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Nephrotic syndrome, type 3, 610725 Tags
Red List (low evidence)	PLCXD1 Intellectual disability v9.288	4 reviews 3 red	Unknown	Sources Expert Review Red Tags Pseudoautosomal region 1
Red List (low evidence)	PLEC Intellectual disability v9.288	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive, OMIM:616487 Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950 Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670 Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138 Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723 Tags
Red List (low evidence)	PLEKHG1 Intellectual disability v9.288	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Spastic diplegia and psychomotor developmental delay Tags
Red List (low evidence)	PLEKHG5 Paediatric motor neuronopathies v3.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Distal Spinal Muscular Atrophy Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 Tags
Red List (low evidence)	PLOD1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	PLOD2 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Bruck syndrome 2, 609220 Tags
Red List (low evidence)	PLOD3 Intellectual disability v9.288	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Lysyl hydroxylase 3 deficiency, 612394 Tags
Red List (low evidence)	PLXNB3 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	PMP22 Intellectual disability v9.288	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Charcot-Marie-Tooth disease, type 1A, 118220 Dejerine-Sottas disease, 145900 Neuropathy, recurrent, with pressure palsies, 162500 Charcot-Marie-Tooth disease, type 1E, 118300 Roussy-Levy syndrome, 180800 Neuropathy, inflammatory demyelinating, 139393 Tags
Red List (low evidence)	PMS2 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Mismatch repair cancer syndrome, 276300 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 Tags
Red List (low evidence)	PNKD Intellectual disability v9.288	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Paroxysmal nonkinesigenic dyskinesia, 118800 Tags
Red List (low evidence)	PNLIP Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Pancreatic triacylglycerol lipase deficiency (Other disorders of lipid and lipoprotein metabolism) Pancreatic lipase deficiency 614338 Tags
Red List (low evidence)	PNP Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 Tags
Red List (low evidence)	PNPLA2 Congenital myopathy v6.45	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Neutral lipid storage disease with myopathy, OMIM:610717 Tags
Red List (low evidence)	PNPLA4 Likely inborn error of metabolism v8.92	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	POC1A Intellectual disability v9.288	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 SOFT syndrome Tags
Red List (low evidence)	POC1B Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cone-rod dystrophy 20, 615973 Tags
Red List (low evidence)	POGLUT1 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	POLD1 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes {Colorectal cancer, susceptibility to, 10}, 612591 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 Tags
Red List (low evidence)	POLG Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 Tags
Red List (low evidence)	POLR1D Intellectual disability v9.288	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Treacher Collins syndrome 2, OMIM:613717 Tags
Red List (low evidence)	POMK Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	7 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Yorkshire and North East GLH NHS GMS South West GLH Radboud University Medical Center, Nijmegen Phenotypes ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12 OMIM:616094 limb-girdle muscular dystrophy due to POMK deficiencyMONDO:0014489 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101 Tags
Red List (low evidence)	POP1 Likely inborn error of metabolism v8.92	1 review	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	PPA2 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Sudden arrhythmic cardiac death after infectious or alcohol trigger Tags
Red List (low evidence)	PPM1B Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Hypotonia-cystinuria syndrome (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Tags
Red List (low evidence)	PPM1K Likely inborn error of metabolism v8.92	1 review 1 red	Unknown	Sources Expert Review Red Phenotypes ?Maple syrup urine disease, mild variant 615135 Tags
Red List (low evidence)	PPP1R1B Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	PRDM12 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488 congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662 Tags
Red List (low evidence)	PRDX4 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	PREPL Likely inborn error of metabolism v8.92	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Hypotonia-cystinuria syndrome 606407 Hypotonia-cystinuria syndrome (Disorders of amino acid transport) Tags
Red List (low evidence)	PREPL Congenital myaesthenic syndrome v5.7	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Literature Phenotypes myasthenic syndrome congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency ?Myasthenic syndrome, congenital, 22, 616224 Tags deletions polygenic treatable
Red List (low evidence)	PREPL Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red Phenotypes Hypotonia-cystinuria syndrome, 606407 HCS 2p21 deletion syndrome Intellectual disability Tags
Red List (low evidence)	PRICKLE1 Intellectual disability v9.288	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Epilepsy, progressive myoclonic 1B, OMIM:612437 Tags
Red List (low evidence)	PRICKLE3 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	PRKAR1A Intellectual disability v9.288	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Acrodysostosis 1, with or without hormone resistance, OMIM:101800 Tags
Red List (low evidence)	PRKCG Intellectual disability v9.288	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spinocerebellar ataxia 14, 605361 Tags
Red List (low evidence)	PRKN Intellectual disability v9.288	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Parkinson disease, juvenile, type 2, 600116 Adenocarcinoma of lung, somatic, 211980 Adenocarcinoma, ovarian, somatic, 167000 {Leprosy, susceptibility to}, 607572 Tags
Red List (low evidence)	PRKRA Intellectual disability v9.288	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Dystonia 16, 612067 Tags
Red List (low evidence)	PROP1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Pituitary hormone deficiency, combined, 2, 262600 Tags
Red List (low evidence)	PROX2 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	PRRG1 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	PRRG3 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	PRSS56 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Microphthalmia, isolated 6, 613517 Tags
Red List (low evidence)	PRX Intellectual disability v9.288	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Charcot-Marie-Tooth disease, type 4F, OMIM:614895 Dejerine-Sottas disease, OMIM:145900 Tags
Red List (low evidence)	PSAT1 Intellectual disability v9.288	5 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red Phenotypes Phosphoserine aminotransferase deficiency, OMIM:610992 Neu-Laxova syndrome 2, OMIM:616038 Tags
Red List (low evidence)	PSEN1 Intellectual disability v9.288	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Alzheimer disease, type 3, 607822 Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 Dementia, frontotemporal, 600274 Pick disease, 172700 Tags
Red List (low evidence)	PSMA7 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	PSMD10 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	PTCD1 Likely inborn error of metabolism v8.92	1 review	Unknown	Sources Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Red List (low evidence)	PTPN21 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	PTPRZ1 Likely inborn error of metabolism v8.92	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism) {H. pylori infection, susceptibility to} 600263 Tags
Red List (low evidence)	PUDP Intellectual disability v9.288	4 reviews 3 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 Red Tags
Red List (low evidence)	PUS1 Congenital myopathy v6.45	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 1, OMIM:600462 Tags
Red List (low evidence)	PYGL Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Glycogen storage disease VI, 232700 Tags
Red List (low evidence)	QKI Intellectual disability v9.288	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes INTELLECTUAL DISABILITY Tags
Red List (low evidence)	RAB27A Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Griscelli syndrome, type 2, 607624 Tags
Red List (low evidence)	RAB40AL Intellectual disability v9.288	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, X-linked, syndromic, Martin-Probst type, 300519 Tags
Red List (low evidence)	RABL6 Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red List (low evidence)	RAD50 Intellectual disability v9.288	5 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Nijmegen breakage syndrome-like disorder, OMIM:613078 Tags
Red List (low evidence)	RAD51C Intellectual disability v9.288	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP 0 Tags
Red List (low evidence)	RALGDS Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red List (low evidence)	RANBP17 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	RANBP2 Intellectual disability v9.288	5 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes {Encephalopathy, acute, infection-induced, 3, susceptibility to} 608033 Tags
Red List (low evidence)	RAPGEF1 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	RAPSN Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Fetal akinesia deformation sequence 1, 208150 Congenital myasthenic syndrome Limb-girdle muscular dystrophy Tags
Red List (low evidence)	RAPSN Intellectual disability v9.288	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red Phenotypes Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 Tags
Red List (low evidence)	RASA1 Intellectual disability v9.288	5 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Parkes Weber syndrome, 608355 Capillary malformation-arteriovenous malformation, 608354 Basal cell carcinoma, somatic, 605462 Tags
Red List (low evidence)	RBCK1 Congenital myopathy v6.45	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 Tags
Red List (low evidence)	RBFOX1 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	RBM28 Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Alopecia, neurologic defects, and endocrinopathy syndrome,612079 Intellectual disability Tags
Red List (low evidence)	RBM8A Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	RECQL4 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	REEP1 Intellectual disability v9.288	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spastic paraplegia 31, autosomal dominant, 610250 ?Neuronopathy, distal hereditary motor, type VB, 614751 Tags
Red List (low evidence)	REEP2 Intellectual disability v9.288	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes ?Spastic paraplegia 72, autosomal recessive, 615625 ?Spastic paraplegia 72, autosomal dominant, 615625 Tags
Red List (low evidence)	RENBP Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	RET Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype both DD and IF gene with ID HPO Tags
Red List (low evidence)	RETREG1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, 613115 Tags
Red List (low evidence)	RFX6 Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Mitchell-Riley syndrome, 615710 Tags
Red List (low evidence)	RGN Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	RGS7 Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red List (low evidence)	RIMS1 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	RING1 Intellectual disability v9.288	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes microcephaly intellectual disability Tags
Red List (low evidence)	RIPK4 Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Popliteal pterygium syndrome 2, lethal type, 263650 Tags
Red List (low evidence)	RNF135 Intellectual disability v9.288	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 Tags
Red List (low evidence)	RNF168 Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes RIDDLE syndrome, 611943 Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome Tags
Red List (low evidence)	RNF216 Intellectual disability v9.288	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 Gordon Holmes syndrome Tags
Red List (low evidence)	RNU5A-1 Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 Tags locus-type-rna-small-nuclear
Red List (low evidence)	ROBO3 Likely inborn error of metabolism v8.92	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 Tags
Red List (low evidence)	ROBO3 Intellectual disability v9.288	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gaze palsy, horizontal, with progressive scoliosis, 607313 Tags
Red List (low evidence)	ROR2 Intellectual disability v9.288	6 reviews 1 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Brachydactyly, type B1, OMIM:113000 (AD) Robinow syndrome, autosomal recessive, OMIM:268310 (AR) Tags
Red List (low evidence)	RORB Intellectual disability v9.288	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 15}, OMIM:618357 Tags
Red List (low evidence)	RPE65 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Leber congenital amaurosis 2, 204100 Retinitis pigmentosa 20, 613794 Tags
Red List (low evidence)	RPGR Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	RPGRIP1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Leber congenital amaurosis 6, 613826 Cone-rod dystrophy 13, 608194 Tags
Red List (low evidence)	RPS19 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Diamond-Blackfan anemia 1, 105650 Tags
Red List (low evidence)	RRAS Intellectual disability v9.288	4 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Atypical Noonan syndrome Noonan syndrome-like Tags
Red List (low evidence)	RSPH1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ciliary dyskinesia, primary, 24, 615481 Tags
Red List (low evidence)	RSPH3 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes NA Tags
Red List (low evidence)	RSPO4 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Anonychia congenita, 206800 Tags
Red List (low evidence)	RTL9 Intellectual disability v9.288	3 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 Red Tags
Red List (low evidence)	RTN2 Intellectual disability v9.288	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spastic paraplegia 12, autosomal dominant, 604805 Tags
Red List (low evidence)	RUBCN Intellectual disability v9.288	5 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Other Expert Review Red Phenotypes Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705 Tags founder-effect
Red List (low evidence)	RUNX2 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cleidocranial dysplasia, 119600 Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600 Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510 Tags
Red List (low evidence)	RYR1 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	RYR1 Congenital muscular dystrophy v6.8	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Emory Genetics Laboratory Phenotypes congenital muscular dystrophies Central core disease Minicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Tags
Red List (low evidence)	RYR1 Congenital myaesthenic syndrome v5.7	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Phenotypes RYR1-related congenital myopathy Tags
Red List (low evidence)	RYR3 Intellectual disability v9.288	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes EPILEPTIC ENCEPHALOPATHY Tags
Red List (low evidence)	SALL4 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Duane-radial ray syndrome, 607323 IVIC syndrome, 147750 Tags
Red List (low evidence)	SAMD9L Intellectual disability v9.288	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual disability, MONDO:0001071 Tags
Red List (low evidence)	SARDH Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes [Sarcosinemia] 268900 Sarcosinaemia (Disorders of serine, glycine or glycerate metabolism) Tags
Red List (low evidence)	SBDS Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Shwachman-Bodian-Diamond syndrome, 260400 Tags
Red List (low evidence)	SBF2 Intellectual disability v9.288	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Charcot-Marie-Tooth disease, type 4B2, 604563 Tags
Red List (low evidence)	SCARB1 Likely inborn error of metabolism v8.92	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes [High density lipoprotein cholesterol level QTL6] 610762 Scavenger receptor class B type I deficiency (Inherited hypolipidaemias) Tags
Red List (low evidence)	SCARB2 Intellectual disability v9.288	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 Tags
Red List (low evidence)	SCARF2 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Van den Ende-Gupta syndrome, 600920 Tags
Red List (low evidence)	SCN11A Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Neuropathy, hereditary sensory and autonomic, type VII, 615548 Episodic pain syndrome, familial, 3, 615552 Tags
Red List (low evidence)	SCN4A Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Hyperkalemic periodic paralysis, type 2, 170500 Hyperkalemic periodic paralysis Tags
Red List (low evidence)	SCN4A Intellectual disability v9.288	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Hyperkalemic periodic paralysis, type 2, 170500 Paramyotonia congenita, 168300 Myotonia congenita, atypical, acetazolamide-responsive, 608390 Myasthenic syndrome, acetazolamide-responsive, 614198 Hypokalemic periodic paralysis, type 2, 613345 Tags
Red List (low evidence)	SCN9A Intellectual disability v9.288	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Erythermalgia, primary, 133020 Paroxysmal extreme pain disorder, 167400, Insensitivity to pain, congenital, 243000 Febrile seizures, familial, 3B, 613863 Epilepsy, generalized, with febrile seizures plus, type 7, 613863 Small fiber neuropathy, 133020 {Dravet syndrome, modifier of}, 607208 HSAN2D, autosomal recessive, 243000 Tags
Red List (low evidence)	SCO1 Intellectual disability v9.288	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 Tags
Red List (low evidence)	SCRIB Intellectual disability v9.288	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes 8Q24.3 DELETION-LIKE Tags
Red List (low evidence)	SEC23B Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Dyserythropoietic anemia, congenital, type II, OMIM:224100 Tags
Red List (low evidence)	SELENOI Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	SEMA3E Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Severe Intellectual Disability with Cognitive Regression Tags
Red List (low evidence)	SETDB2 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	SETX Intellectual disability v9.288	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ataxia-ocular apraxia-2, 606002 Amyotrophic lateral sclerosis 4, juvenile, 602433 Tags
Red List (low evidence)	SF3B4 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	SGCA Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	SGCE Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Dystonia-11, myoclonic, 159900 Tags
Red List (low evidence)	SH3PXD2B Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Frank-ter Haar syndrome, 249420 Tags
Red List (low evidence)	SH3TC2 Intellectual disability v9.288	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Charcot-Marie-Tooth disease, type 4C, 601596 Mononeuropathy of the median nerve, mild, 613353 Tags
Red List (low evidence)	SHOX Intellectual disability v9.288	5 reviews 1 green 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Langer mesomelic dysplasia, OMIM:249700 (PR) Leri-Weill dyschondrosteosis, OMIM:127300 (PD) Short stature, idiopathic familial, OMIM:300582 Tags microdeletion Pseudoautosomal region 1
Red List (low evidence)	SHPK Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Sedoheptulokinase deficiency (Other metabolic disorders) [Sedoheptulokinase deficiency] 617213 Tags
Red List (low evidence)	SHROOM2 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	SIGMAR1 Paediatric motor neuronopathies v3.12	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Literature Phenotypes ?Amyotrophic lateral sclerosis 16, juvenile 614373 Tags
Red List (low evidence)	SIGMAR1 Intellectual disability v9.288	2 reviews 1 green 1 red	Other - please specify in evaluation comments	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Amyotrophic lateral sclerosis 16, juvenile, 614373 Tags
Red List (low evidence)	SIX1 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Brachiootic syndrome 3, 608389 Deafness, autosomal dominant 23, 605192 Tags
Red List (low evidence)	SIX5 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Branchiootorenal syndrome 2, OMIM:610896 Tags
Red List (low evidence)	SKIV2L Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Trichohepatoenteric syndrome 2, 614602 Tags new-gene-name
Red List (low evidence)	SLC20A2 Intellectual disability v9.288	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Basal ganglia calcification, idiopathic, 1 13600 Idiopathic basal ganglia calcification, adult onset Basal ganglia calcification, idiopathic, childhood onset Tags
Red List (low evidence)	SLC22A12 Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Phenotypes Hypouricemia, renal 220150 Tags
Red List (low evidence)	SLC22A4 Likely inborn error of metabolism v8.92	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	SLC22A5 Intellectual disability v9.288	7 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919 Tags
Red List (low evidence)	SLC25A13 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	SLC25A19 Intellectual disability v9.288	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Microcephaly, Amish type, 607196 Tags
Red List (low evidence)	SLC25A2 Likely inborn error of metabolism v8.92	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) Tags
Red List (low evidence)	SLC25A20 Intellectual disability v9.288	6 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY Tags
Red List (low evidence)	SLC25A24 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Phenotypes Fontaine progeroid syndrome, OMIM 612289 Fontaine progeroid syndrome, MONDO:0012853 Tags
Red List (low evidence)	SLC25A40 Likely inborn error of metabolism v8.92	1 review	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	SLC25A53 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	SLC25A6 Intellectual disability v9.288	4 reviews 3 red	Unknown	Sources Expert Review Red Tags Pseudoautosomal region 1
Red List (low evidence)	SLC26A6 Likely inborn error of metabolism v8.92	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Enteric hyperoxaluria and nephrolithiasis Tags watchlist
Red List (low evidence)	SLC26A9 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	SLC27A5 Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Bile acid CoA ligase deficiency (Disorders of bile acid biosynthesis) Tags
Red List (low evidence)	SLC2A10 Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	SLC2A9 Rhabdomyolysis and metabolic muscle disorders v5.14	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Phenotypes Hypouricemia, renal, 2 612076 {Uric acid concentration, serum, QTL 2} 612076 Tags
Red List (low evidence)	SLC31A1 Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red List (low evidence)	SLC35A3 Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553 Tags
Red List (low evidence)	SLC35F1 Intellectual disability v9.288	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neruodevelopmental disorder, MONDO:0700092, SLC35F1-associated Rett-like syndrome Tags
Red List (low evidence)	SLC36A2 Likely inborn error of metabolism v8.92	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Iminoglycinuria, digenic 242600 Hyperglycinuria 138500 Hyperglycinuria AR Tags
Red List (low evidence)	SLC52A1 Paediatric motor neuronopathies v3.12	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Tags
Red List (low evidence)	SLC52A1 Likely inborn error of metabolism v8.92	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Riboflavin deficiency 615026 Tags
Red List (low evidence)	SLC52A3 Intellectual disability v9.288	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Brown-Vialetto-Van Laere syndrome 1, 211530 Tags
Red List (low evidence)	SLC5A2 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	SLC5A7 Paediatric motor neuronopathies v3.12	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature UKGTN Phenotypes Neuronopathy, distal hereditary motor, type VIIA 158580 Tags
Red List (low evidence)	SLC6A20 Likely inborn error of metabolism v8.92	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Hyperglycinuria Tags gene-checked refuted
Red List (low evidence)	SLC6A4 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	SLC6A5 Intellectual disability v9.288	5 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes hyperekplexia (MIM:614618) and intellectual disability Tags
Red List (low evidence)	SLC7A7 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	SLC9A9 Intellectual disability v9.288	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Red Phenotypes {?Autism susceptibility 16}, 613410 Tags
Red List (low evidence)	SLCO1B1 Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Hyperbilirubinemia, Rotor type, digenic Tags
Red List (low evidence)	SLCO1B3 Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Hyperbilirubinemia, Rotor type, digenic Tags
Red List (low evidence)	SMARCAL1 Intellectual disability v9.288	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Schimke immunoosseous dysplasia, OMIM:242900 Tags
Red List (low evidence)	SMARCC1 Intellectual disability v9.288	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Tags
Red List (low evidence)	SMARCD3 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	SMCHD1 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 Tags
Red List (low evidence)	SMCHD1 Congenital muscular dystrophy v6.8	2 reviews 1 red	Other	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901 Tags
Red List (low evidence)	SMN1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Yorkshire and North East GLH NHS GMS Expert Review Phenotypes Spinal muscular atrophy-4, 271150 Tags
Red List (low evidence)	SMO Intellectual disability v9.288	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Curry-Jones syndrome, somatic mosaic 601707 Tags
Red List (low evidence)	SNAP25 Congenital myaesthenic syndrome v5.7	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Wessex and West Midlands GLH Other Literature Phenotypes ?Myasthenic syndrome, congenital, 18, 616330 Tags
Red List (low evidence)	SNCA Intellectual disability v9.288	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Parkinson disease 4, 605543 Dementia, Lewy body, 127750 Parkinson disease 1, 168601 Tags
Red List (low evidence)	SNRPN Paediatric motor neuronopathies v3.12	4 reviews 1 red	Other - please specifiy in evaluation comments	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Prader-Willi syndrome, OMIM:176270 Tags currently-ngs-unreportable
Red List (low evidence)	SNTG1 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	SNX3 Intellectual disability v9.288	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) mental retardation Tags structural-variant
Red List (low evidence)	SOBP Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes syndromic and nonsyndromic ID with psychosis Mental retardation, anterior maxillary protrusion, and strabismus, 613671 MRAMS Tags watchlist
Red List (low evidence)	SOX17 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Vesicoureteral reflux 3, 613674 Tags
Red List (low evidence)	SPAG1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ciliary dyskinesia, primary, 28, 615505 Tags
Red List (low evidence)	SPEG Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Centronuclear myopathy 5 ( 615959) Tags
Red List (low evidence)	SPG21 Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Mast syndrome, 248900 Tags
Red List (low evidence)	SPG7 Intellectual disability v9.288	4 reviews 1 green 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spastic paraplegia 7, autosomal recessive, OMIM:607259 hereditary spastic paraplegia 7, MONDO:0011803 Tags
Red List (low evidence)	SPRTN Intellectual disability v9.288	0 reviews	Not set	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	SPRY3 Intellectual disability v9.288	4 reviews 3 red	Unknown	Sources Expert Review Red Tags Pseudoautosomal region 2
Red List (low evidence)	SPTLC1 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	SPTLC2 Intellectual disability v9.288	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Neuropathy, hereditary sensory and autonomic, type IC, 613640 Tags
Red List (low evidence)	SREBF2 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	SRPX2 Intellectual disability v9.288	5 reviews 2 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, OMIM:300643 Tags
Red List (low evidence)	SRRT Likely inborn error of metabolism v8.92	2 reviews 1 red	Unknown	Sources Expert Review Red Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Red List (low evidence)	SRY Intellectual disability v9.288	4 reviews 1 green 1 red	Other - please specifiy in evaluation comments	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes 46XY SEX REVERSAL 1 Tags y-chromosome
Red List (low evidence)	STAB2 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	STAR Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Lipoid adrenal hyperplasia, 201710 Tags
Red List (low evidence)	STARD8 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	STAT1 Intellectual disability v9.288	5 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 Immunodeficiency 31C, autosomal dominant, 614162 Tags
Red List (low evidence)	STAT5B Intellectual disability v9.288	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Phenotypes Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590 Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985 Tags
Red List (low evidence)	STIM2 Congenital myopathy v6.45	2 reviews 1 red	Unknown	Sources Expert Review Red UKGTN Tags
Red List (low evidence)	STS Intellectual disability v9.288	5 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	STT3B Likely inborn error of metabolism v8.92	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Congenital disorder of glycosylation, type Ix 615597 Tags
Red List (low evidence)	STT3B Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Congenital disorder of glycosylation, type Ix, 615597 developmental delay intellectual disability Tags
Red List (low evidence)	STUB1 Intellectual disability v9.288	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768 autosomal recessive spinocerebellar ataxia 16, MONDO:0014339 Spinocerebellar ataxia 48, OMIM:618093 spinocerebellar ataxia 48, MONDO:0032526 Tags
Red List (low evidence)	STX11 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	STX3 Intellectual disability v9.288	1 review	Unknown	Sources Other Tags watchlist
Red List (low evidence)	SUCLG2 Likely inborn error of metabolism v8.92	2 reviews 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Succinyl-CoA synthetase deficiency (Other metabolic disorders) No OMIM phenotype Tags
Red List (low evidence)	SUGCT Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Glutaric aciduria type III (Organic acidurias) Glutaric aciduria type III 231690 Tags
Red List (low evidence)	SYNE1 Intellectual disability v9.288	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 Spinocerebellar ataxia, autosomal recessive 8, 610743 intellectual disability Tags
Red List (low evidence)	SYNE2 Congenital muscular dystrophy v6.8	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Emery-Dreifuss muscular dystrophy 5, autosomal dominant, OMIM:612999 Tags
Red List (low evidence)	SYNE2 Intellectual disability v9.288	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes autism spectrum disorder, developmental delay and intellectual disability Tags
Red List (low evidence)	SYT14 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Victorian Clinical Genetics Services Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes psychomotor retardation Tags structural-variant
Red List (low evidence)	SYT15 Congenital myaesthenic syndrome v5.7	2 reviews 1 red	Not set	Sources Expert Review Red NHS GMS Wessex and West Midlands GLH Tags
Red List (low evidence)	SYT2 Paediatric motor neuronopathies v3.12	2 reviews	Not set	Sources Expert Review Red Expert Tags
Red List (low evidence)	SYTL4 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	SYTL5 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	TACO1 Intellectual disability v9.288	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial complex IV deficiency, 220110 (includes mild to moderate developmental delay and intellectual disability) Tags
Red List (low evidence)	TAF7L Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	TARDBP Intellectual disability v9.288	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069 Frontotemporal lobar degeneration, TARDBP-related, 612069 Tags
Red List (low evidence)	TBC1D8B Intellectual disability v9.288	3 reviews 3 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 Red Tags gene-checked
Red List (low evidence)	TBP Intellectual disability v9.288	4 reviews 1 green 1 red	Other	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spinocerebellar ataxia 17, OMIM:607136 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red List (low evidence)	TBX15 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cousin Syndrome Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature Tags
Red List (low evidence)	TBX20 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Atrial septal defect 4, 611363 Tags
Red List (low evidence)	TBX22 Intellectual disability v9.288	4 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cleft palate with ankyloglossia, 303400 ?Abruzzo-Erickson syndrome, 302905 Tags
Red List (low evidence)	TBX3 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ulnar-mammary syndrome, 181450 Tags
Red List (low evidence)	TBX4 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Small patella syndrome, 147891 Tags
Red List (low evidence)	TBX5 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Holt-Oram syndrome, 142900 Tags
Red List (low evidence)	TBXAS1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ghosal hematodiaphyseal syndrome, OMIM:231095 Tags
Red List (low evidence)	TCEAL3 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	TCF12 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Craniosynostosis 3, 615314 Tags
Red List (low evidence)	TCN1 Likely inborn error of metabolism v8.92	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Haptocorrin deficiency (Disorders of cobalamin absorption, transport and metabolism) No OMIM number Tags
Red List (low evidence)	TCOF1 Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	TCP10L2 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	TCTN1 Intellectual disability v9.288	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Joubert syndrome 13, 614173 intellectual disability Tags watchlist
Red List (low evidence)	TDO2 Likely inborn error of metabolism v8.92	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes No OMIM number Tryptophanaemia (Disorders of histidine, tryptophan or lysine metabolism) Tags
Red List (low evidence)	TECR Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Victorian Clinical Genetics Services Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes non-syndromic mental retardation Tags founder-effect
Red List (low evidence)	TEK Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Venous malformations, multiple cutaneous and mucosal, 600195 Tags
Red List (low evidence)	TENM1 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	TEPSIN Intellectual disability v9.288	4 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	TFAP2A Intellectual disability v9.288	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Branchiooculofacial syndrome, 113620 Tags
Red List (low evidence)	TFAP2B Intellectual disability v9.288	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Char syndrome, 169100 Tags
Red List (low evidence)	TFB2M Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Intellectual disability Tags
Red List (low evidence)	TGDS Intellectual disability v9.288	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Catel-Manzke syndrome, 616145 Tags
Red List (low evidence)	TGFB2 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Loeys-Dietz syndrome, type 4, 614816 Tags
Red List (low evidence)	TGFB3 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Arrhythmogenic right ventricular dysplasia 1, 107970 ?Rienhoff syndrome, 615582 Tags
Red List (low evidence)	TGFBR1 Intellectual disability v9.288	4 reviews 1 green 3 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Loeys-Dietz syndrome 1, 609192 (includes uncommon developmental delay and mental retardation) Tags
Red List (low evidence)	TGFBR2 Intellectual disability v9.288	4 reviews 1 green 3 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Loeys-Dietz syndrome 2, 610168 Tags
Red List (low evidence)	TGM6 Intellectual disability v9.288	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spinocerebellar ataxia 35, 613908 Tags
Red List (low evidence)	THAP1 Intellectual disability v9.288	5 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes DYSTONIA 6, TORSION Tags
Red List (low evidence)	THAP11_CAG STR Intellectual disability v9.288	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Spinocerebellar ataxia 51, OMIM:620947 Tags NGS Not Validated STR
Red List (low evidence)	TIA1 Congenital myopathy v6.45	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Welander distal myopathy, OMIM:604454 Tags
Red List (low evidence)	TIMM44 Likely inborn error of metabolism v8.92	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	TIMM8A Intellectual disability v9.288	5 reviews 3 green 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Deafness, X-linked 1, progressiveMohr-Tranebjaerg syndrome, 304700Jensen syndrome, 311150 JENSEN SYNDROME Tags
Red List (low evidence)	TINF2 Intellectual disability v9.288	5 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Dyskeratosis congenita, autosomal dominant 3, 613990 Revesz syndrome, 268130 Tags
Red List (low evidence)	TK2 Intellectual disability v9.288	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 Tags
Red List (low evidence)	TKTL1 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	TLR8 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	TM4SF20 Intellectual disability v9.288	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes early language delay {Specific language impairment 5}, 615432 Tags
Red List (low evidence)	TM6SF2 Likely inborn error of metabolism v8.92	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes non-alcoholic fatty liver disease Tags
Red List (low evidence)	TMEM126A Likely inborn error of metabolism v8.92	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Optic atrophy 7 612989 Tags
Red List (low evidence)	TMEM126B Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Muscle Weakness and Isolated Complex I Deficiency Tags
Red List (low evidence)	TMEM132E Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	TMEM135 Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red List (low evidence)	TMEM260 Intellectual disability v9.288	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	TMEM43 Congenital muscular dystrophy v6.8	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Emery-Dreifuss muscular dystrophy 7, AD, OMIM:614302 Tags
Red List (low evidence)	TMPRSS6 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Iron-refractory iron deficiency anemia, 206200 Tags
Red List (low evidence)	TMPRSS9 Intellectual disability v9.288	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes Progressive intellectual and neurological deterioration Global developmental delay Intellectual disability Autism Epilepsy Tags watchlist
Red List (low evidence)	TNKS2 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	TNNT3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Arthrogryposis, distal, type 2B2, OMIM:618435 Arthrogryposis, distal, type 2B2, MONDO:0032750 Tags
Red List (low evidence)	TP63 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes ADULT syndrome, OMIM:103285 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292 Hay-Wells syndrome, OMIM:106260 Limb-mammary syndrome, OMIM:603543 Orofacial cleft 8, OMIM:618149 Rapp-Hodgkin syndrome, OMIM:129400 Split-hand/foot malformation 4, OMIM:605289 Tags
Red List (low evidence)	TPH2 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	TPK1 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	TPM2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Arthrogryposis multiplex congenita, distal, type 1, 108120 Tags
Red List (low evidence)	TPM3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.29	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes CAP myopathy 1, 609284 Nemaline myopathy 1, autosomal dominant or recessive, 609284 Nemaline myopathy congenital myopathy Tags
Red List (low evidence)	TPMT Likely inborn error of metabolism v8.92	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Red Phenotypes Thiopurine S-methyltransferase deficiency (Disorders of purine metabolism) {Thiopurines, poor metabolism of, 1} 610460 Tags
Red List (low evidence)	TPR Intellectual disability v9.288	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Intellectual disability, MONDO:0001071 Tags
Red List (low evidence)	TRAPPC2 Intellectual disability v9.288	4 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes NA Tags
Red List (low evidence)	TRAPPC6A Intellectual disability v9.288	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual disability dysmorphic features Tags
Red List (low evidence)	TREH Likely inborn error of metabolism v8.92	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Trehalase deficiency (Other carbohydrate disorders) Tags
Red List (low evidence)	TREX2 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	TRHR Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	TRIM32 Intellectual disability v9.288	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Bardet-Biedl syndrome 11, 615988 Tags
Red List (low evidence)	TRIM37 Intellectual disability v9.288	6 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes MULIBREY NANISM MUL Muscle-liver-brain-eye nanism Tags
Red List (low evidence)	TRIP11 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Achondrogenesis, type IA, 200600 Tags
Red List (low evidence)	TRIP13 Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Literature Phenotypes Mosaic variegated aneuploidy syndrome 3 617598 Tags watchlist
Red List (low evidence)	TRMT1L Intellectual disability v9.288	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Early-onset neurodegenerative symptoms Tags
Red List (low evidence)	TRPM1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 Tags
Red List (low evidence)	TRPS1 Intellectual disability v9.288	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Trichorhinophalangeal syndrome, type I, 190350 Trichorhinophalangeal syndrome, type III, 190351 Tags
Red List (low evidence)	TRPV4 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Brachyolmia type 3, 113500 Spondylometaphyseal dysplasia, Kozlowski type, 184252 Metatropic dysplasia, 156530 Hereditary motor and sensory neuropathy, type IIc, 606071 Scapuloperoneal spinal muscular atrophy, 181405 [Sodium serum level QTL 1], 613508 Parastremmatic dwarfism, 168400 SED, Maroteaux type, 184095 Spinal muscular atrophy, distal, congenital nonprogressive, 600175 Digital arthropathy-brachydactyly, familial, 606835 Tags
Red List (low evidence)	TSC22D3 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	TSEN54 Rhabdomyolysis and metabolic muscle disorders v5.14	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Literature Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Pontocerebellar hypoplasia type 2A, OMIM:277470 Tags
Red List (low evidence)	TSHR Intellectual disability v9.288	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Hypothyroidism, congenital, nongoitrous, 1 275200 Thyroid adenoma, hyperfunctioning, somatic Hyperthyroidism, nonautoimmune, 609152 Thyroid carcinoma with thyrotoxicosis Hyperthyroidism, familial gestational, 603373 Tags
Red List (low evidence)	TSPAN8 Intellectual disability v9.288	1 review	Unknown	Sources Other Tags watchlist
Red List (low evidence)	TTBK2 Intellectual disability v9.288	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spinocerebellar ataxia 11, 604432 Tags
Red List (low evidence)	TTC7A Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Intestinal atresia, multiple, 243150 Tags
Red List (low evidence)	TTN Intellectual disability v9.288	1 review 1 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	TTPA Intellectual disability v9.288	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ataxia with isolated vitamin E deficiency, 277460 Tags
Red List (low evidence)	TTR Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	TUBA8 Intellectual disability v9.288	6 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Polymicrogyria with optic nerve hypoplasia, 613180 POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA (PMGONH) Tags watchlist
Red List (low evidence)	TUBAL3 Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes intellectual disability/developmental delay with cognitive impairment Tags
Red List (low evidence)	TUFM Intellectual disability v9.288	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Combined oxidative phosphorylation deficiency 4, 610678 Tags
Red List (low evidence)	TXN2 Likely inborn error of metabolism v8.92	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy ?Combined oxidative phosphorylation deficiency 29 Tags
Red List (low evidence)	TXNL4A Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Burn-McKeown syndrome, 608572 Tags
Red List (low evidence)	TYR Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Albinism, oculocutaneous, type IA, OMIM:203100 Albinism, oculocutaneous, type IB, OMIM:606952 Waardenburg syndrome/albinism, digenic, OMIM:103470 Tags
Red List (low evidence)	TYRP1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Albinism, oculocutaneous, type III, 203290 [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271 Tags
Red List (low evidence)	UBE2U Intellectual disability v9.288	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Retinoschisis, MONDO:0004579 cataracts learning disability, MONDO:0004681 developmental delay Tags
Red List (low evidence)	UBQLN1 Paediatric motor neuronopathies v3.12	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Brown-Vialetto-Van Laere syndrome/ atypical motor neurone disease Tags
Red List (low evidence)	UBR4 Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	UGT1A1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes NA Tags
Red List (low evidence)	UQCRB Intellectual disability v9.288	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158 Tags
Red List (low evidence)	UQCRH Likely inborn error of metabolism v8.92	1 review	Unknown	Sources Expert Review Red Phenotypes No OMIM phenotype Tags
Red List (low evidence)	UQCRQ Intellectual disability v9.288	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial complex III deficiency, nuclear type 4, 615159 Tags
Red List (low evidence)	UROS Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Porphyria, congenital erythropoietic, 263700 Tags
Red List (low evidence)	USB1 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Poikiloderma with neutropenia Tags
Red List (low evidence)	USF1 Likely inborn error of metabolism v8.92	1 review 1 red	Unknown	Sources London North GLH NHS GMS Expert Review Red Phenotypes Familial combined hyperlipoproteinaemia (Inherited mixed hyperlipidaemias) Tags
Red List (low evidence)	USP18 Intellectual disability v9.288	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Pseudo-TORCH syndrome 2, 617397 Tags treatable
Red List (low evidence)	UTP14A Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	UVSSA Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes UV-sensitive syndrome 3, 614640 Tags
Red List (low evidence)	VAMP1 Intellectual disability v9.288	8 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Myasthenic syndrome, congenital, 25, 618323 Tags
Red List (low evidence)	VAMP7 Intellectual disability v9.288	4 reviews 3 red	Unknown	Sources Expert Review Red Tags Pseudoautosomal region 2
Red List (low evidence)	VCP Congenital myopathy v6.45	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, OMIM:167320 Tags adult-onset
Red List (low evidence)	VDR Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	VIP Intellectual disability v9.288	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Asperger syndrome Tags
Red List (low evidence)	VPS13C Likely inborn error of metabolism v8.92	5 reviews 1 green 2 red	Unknown	Sources Expert Review Red Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	VPS33B Congenital myopathy v6.45	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London South GLH Expert Review Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085 Tags
Red List (low evidence)	VPS35 Intellectual disability v9.288	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Parkinson disease 17, 614203 Tags
Red List (low evidence)	VSX2 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Microphthalmia with coloboma 3, 610092 Microphthalmia, isolated 2, 610093 Tags
Red List (low evidence)	WDR13 Intellectual disability v9.288	3 reviews 3 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 Red Phenotypes X-linked intellectual disability XLID Tags
Red List (low evidence)	WDR19 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Nephronophthisis 13, 614377 Cranioectodermal dysplasia 4, 614378 Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 Tags
Red List (low evidence)	WDR34 Intellectual disability v9.288	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 Tags new-gene-name
Red List (low evidence)	WDR35 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cranioectodermal dysplasia 2, 613610 Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 Tags
Red List (low evidence)	WDR60 Intellectual disability v9.288	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes JEUNE SYNDROMES Tags new-gene-name
Red List (low evidence)	WFS1 Intellectual disability v9.288	3 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Phenotypes Wolfram syndrome 1, 222300 Wolfram-like syndrome, autosomal dominant, 614296 Tags
Red List (low evidence)	WNT10B Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Split-hand/foot malformation 6, 225300 Tags
Red List (low evidence)	WNT3 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Tetra-amelia, autosomal recessive, 273395 Tags
Red List (low evidence)	WNT4 Intellectual disability v9.288	3 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes MULLERIAN APLASIA AND HYPERANDROGENISM Tags
Red List (low evidence)	WNT5A Intellectual disability v9.288	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red List (low evidence)	WNT7A Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ulna and fibula, absence of, with severe limb deficiency, 276820 Fuhrmann syndrome, 228930 Tags
Red List (low evidence)	WRAP53 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Dyskeratosis congenita, autosomal recessive 3, 613988 Tags
Red List (low evidence)	WRN Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red List (low evidence)	WT1 Intellectual disability v9.288	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Wilms tumor, type 1, 194070 Denys-Drash syndrome, 194080 Nephrotic syndrome, type 4, 256370 Frasier syndrome, 136680 Meacham syndrome, 608978 Mesothelioma, somatic, 156240 Tags
Red List (low evidence)	WWC3 Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	XIAP Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	XIST Intellectual disability v9.288	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags locus-type-rna-long-non-coding
Red List (low evidence)	XK Intellectual disability v9.288	3 reviews 3 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 Red Phenotypes X-linked mental retardation Tags
Red List (low evidence)	XKRX Intellectual disability v9.288	3 reviews 3 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 Red Tags
Red List (low evidence)	XPC Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Xeroderma pigmentosum, group C, 278720 Tags
Red List (low evidence)	XPNPEP3 Intellectual disability v9.288	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Nephronophthisis-like nephropathy 1 OMIM:613159 nephronophthisis-like nephropathy 1 MONDO:0013163 Tags
Red List (low evidence)	XPNPEP3 Rhabdomyolysis and metabolic muscle disorders v5.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MONDO:0859322 Tags
Red List (low evidence)	YAP1 Intellectual disability v9.288	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Red Phenotypes Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, 120433 Tags
Red List (low evidence)	YARS2 Congenital myopathy v6.45	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, OMIM:613561 Tags
Red List (low evidence)	YBX3 Intellectual disability v9.288	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Neurological disorder Tags
Red List (low evidence)	YWHAE Intellectual disability v9.288	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags cnv
Red List (low evidence)	YWHAZ Intellectual disability v9.288	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Intellectual disability, MONDO:0001071 Tags
Red List (low evidence)	ZBTB16 Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Skeletal defects, genital hypoplasia, and mental retardation, 612447 Tags
Red List (low evidence)	ZBTB40 Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red List (low evidence)	ZCCHC12 Intellectual disability v9.288	3 reviews 3 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 Red Phenotypes nonsyndromic X-linked mental retardation XLMR Tags
Red List (low evidence)	ZCCHC8 Intellectual disability v9.288	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red List (low evidence)	ZDHHC15 Intellectual disability v9.288	5 reviews 4 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 Red Emory Genetics Laboratory Phenotypes cerebral palsy intellectual disability autism spectrum disorder epilepsy Tags
Red List (low evidence)	ZIC3 Intellectual disability v9.288	4 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Heterotaxy, visceral, 1, X-linked 306955 Congenital heart defects, nonsyndromic, 1, X-linked, 306955 VACTERL association, X-linked, 314390 Tags
Red List (low evidence)	ZMPSTE24 Intellectual disability v9.288	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Mandibuloacral dysplasia with type B lipodystrophy, 608612 Restrictive dermopathy, lethal, 275210 Tags
Red List (low evidence)	ZMYM6 Intellectual disability v9.288	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes INTELLECTUAL DISABILITY Tags
Red List (low evidence)	ZMYND12 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	ZNF41 Intellectual disability v9.288	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Mental retardation, X-linked 89, 300848 Mental Retardation, X-linked Tags
Red List (low evidence)	ZNF425 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red List (low evidence)	ZNF592 Intellectual disability v9.288	3 reviews 3 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Spinocerebellar ataxia, autosomal recessive 5, 606937 Tags
Red List (low evidence)	ZNF599 Intellectual disability v9.288	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes ?Chromosome 19q13.11 deletion syndrome, distal, 613026 (includes intellectual disability and developmental delay) Tags
Red List (low evidence)	ZNF674 Intellectual disability v9.288	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Mental Retardation, X-linked Mental retardation, X-linked 92, 300851 Tags
Red List (low evidence)	ZNF713 Intellectual disability v9.288	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes AUTISM Tags
Red List (low evidence)	ZNF81 Intellectual disability v9.288	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Mental Retardation, X-linked Mental retardation, X-linked 45, 300498 Tags
No list	ATXN1_CAG STR Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Removed Expert list Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags curated_removed STR
No list	ATXN2_CAG STR Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Removed Expert list Phenotypes Spinocerebellar ataxia 2, OMIM:183090 {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 Tags curated_removed STR
No list	ATXN3_CAG STR Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Removed Expert list Phenotypes Machado-Joseph disease, OMIM:109150 Tags curated_removed STR
No list	ATXN7_CAG STR Intellectual disability v9.288	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Removed Expert list Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Tags curated_removed STR
No list	C9orf72_GGGGCC STR Intellectual disability v9.288	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Removed Expert list Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 Tags curated_removed STR
No list	CSTB_CCCCGCCCCGCG STR Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Removed Expert list Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 Tags curated_removed STR
No list	FXN_GAA STR Intellectual disability v9.288	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Removed Expert list Phenotypes Friedreich ataxia OMIM:229300 Friedreich ataxia with retained reflexes OMIM:229300 Friedreich ataxia 1 MONDO:0100340 Tags curated_removed STR
No list	PPP2R2B_CAG STR Intellectual disability v9.288	4 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Removed Expert list Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags curated_removed STR
No list	ZMYND15 Intellectual disability v9.288	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes ?Spermatogenic failure 14, OMIM:615842 Tags curated_removed

Major version comments

2018-12-20 14:23 Ellen McDonagh (Genomics England Curator) promoted panel to 1.0
Promoting to Version 1 to allow a super panel to be built.

Hypotonic infant (Version 44.502)

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