Intellectual disability (Version 2.160)

Description

12th March 2018 MAJOR UPDATES TO THIS PANEL (Phase 3):

* 162 genes were reviewed by the Genomics England Curator Team and Clinical Team
* Gene status for these genes was updated according to evidence level, resulting in 21 new Green genes (881 in total).
* The number of total genes on the panel was increased from 1912 to 1927.
* Updated version: 1.689 (prior version before updates began was 1.676)


5th January 2018 MAJOR UPDATES TO THIS PANEL (Phase 2):

* Reviews for 290 genes by Genomics England Curators and Clinical Team were added
* Gene status for these genes was updated according to evidence level, resulting in 41 new Green genes (858 in total)
* The number of total genes on the panel was increased from 1895 to 1911
* Updated version: 1.607 (prior version before updates began was 1.561)

29th November 2017 MAJOR UPDATES TO THIS PANEL (Phase 1):

* Reviews for 383 genes by Genomics England Curators and Clinical Team were added
* Gene status for these genes was updated according to evidence level, resulting in 66 new Green genes (817 in total)
* The number of total genes on the panel was increased from 1879 to 1895
* Updated version: 1.479 (prior version before updates began was 1.463)


NB. Clinical test guidance:
Imaging diagnostsics refers to MRI brain and/or medical photographs of facial features and other physical features as appropriate

Intellectual disability inclusion criteria (29546)
- Moderate to Severe/ Profound ID disproportionate to parental IQ unless the family history is consistent with an X-linked disorder
- Congenital onset
- Developmental Delay
- +/- clinical features suggestive of a specific syndrome
- Metabolic causes have been excluded

Intellectual disability exclusion criteria (29546)
- Antenatal history suggestive of non-genetic cause
- Proven congenital or neonatal infections
- Known genetic cause already identified
- Microarray analysis abnormal and clearly pathogenic

Prior genetic testing guidance (29546)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Intellectual disability prior genetic testing genes (29546)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 - For syndromes where the cause of disease is 1-2 genes these need to be excluded before Genomics England recruitment, e.g. for Kabuki syndrome, MLL2 (KMT2D) and KDM6A should have been tested.

Closing statement :
These requirements will be kept under continual review during the main programme and may be subject to change.

33 reviewers

Ellen McDonagh (Genomics England Curator)

Group: other
Workplace: other
Katherine Smith (Genomics England)

Group: Other
Workplace: Other
Richard Scott (North Thames GMC/UCL)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Caroline Wright (Sanger)

Group: other
Workplace: other
Dominic McMullan (Birmingham Women's NHS Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Sian Ellard (University of Exeter Medical School)

Group: other
Workplace: other
Jill Clayton-Smith (Manchester Centre For Genomic Medicine)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Philip Stanier (UCL-ICH)

Group: GeCIP domain
Workplace: Research lab
Maria Bitner-Glindzicz (UCL)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Lu Raymond (university of cambridge )

Group: GeCIP domain
Workplace: Research lab
emma baple (South West GMC)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Richard Scott (Genomics England Curator)

Group: Other
Workplace: Genomics England
Caroline Wright (Genomics England Curator)

Group: Other
Workplace: Genomics England
emma baple (Genomics England Curator)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Alice Gardham (North West Thames Genetics)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Ellen Thomas (Genomics England Curator)

Group: Other
Workplace: Other
Olivia Niblock (Genomics England Curator)

Group: Other
Workplace: Other
Pedro Louro (Guy's Hospital)

Group: Other NHS organisation
Workplace: NHS clinical service
Andrew Douglas (University of Southampton / Wessex Clinical Genetics Service)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Cristina Dias (The Francis Crick Institute)

Group: NHS Genomic Medicine Centre
Workplace: Other
alisdair mcneill (Sheffield childrens hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Alice Gardham (Genomics England)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
BRIDGE consortium (NIHRBR-RD)

Group: Other
Workplace: Other
Arianna Tucci (Genomics England Curator)

Group: Other
Workplace: Other
Helen Brittain (Genomics England Curator)

Group: Other
Workplace: Other
Tord Jonson (Dep. of Clinical Genetics & Pathology, Lund, Sweden)

Group: Other
Workplace: Other diagnostic lab
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
David Curtis (UCL)

Group: GeCIP domain
Workplace: Research lab
Rachel Jones (GSTT)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service

1996 genes

1995 reviewed, 894 green

List	Gene	Reviews	Mode of inheritance	Details
Filter genes 1996 genes
Green Green List (high evidence)	AAAS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Amber Phenotypes Achalasia-addisonianism-alacrimia syndrome 231550
Green Green List (high evidence)	ACADS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert Review Green Phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of 201470
Green Green List (high evidence)	ACTL6A	4 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert Review Red Phenotypes developmental delay intellectual disability
Green Green List (high evidence)	ADK	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Expert Review Green Expert Review Red Phenotypes Hypermethioninemia due to adenosine kinase deficiency 614300
Green Green List (high evidence)	AHI1	5 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Joubert syndrome 3 608629
Green Green List (high evidence)	AMER1	4 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Expert Review Green Phenotypes Osteopathia striata with cranial sclerosis 300373
Green Green List (high evidence)	AP3B1	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Expert Review Green Expert Review Green Phenotypes Hermansky-Pudlak syndrome 2 608233
Green Green List (high evidence)	AP3B2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 48 617276
Green Green List (high evidence)	ARID2	5 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Red Expert Review Green Phenotypes Coffin-Siris syndrome-like phenotype
Green Green List (high evidence)	ARL13B	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Red Expert Review Green Expert Review Green Phenotypes Joubert syndrome 8 612291
Green Green List (high evidence)	ASL	5 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Expert Review Green Expert Review Red Phenotypes Argininosuccinic aciduria 207900
Green Green List (high evidence)	ASXL2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Phenotypes Shashi-Pena syndrome 617190
Green Green List (high evidence)	ATP6V0A2	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Expert Review Red Expert Review Green Phenotypes Cutis laxa, autosomal recessive, type IIA 219200 Wrinkly skin syndrome 278250
Green Green List (high evidence)	B3GLCT	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Peters-plus syndrome, 261540
Green Green List (high evidence)	BCS1L	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Expert Review Red Phenotypes Mitochondrial complex III deficiency, nuclear type 1, 124000 Leigh syndrome, 256000 Bjornstad syndrome, 262000
Green Green List (high evidence)	BMP4	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Microphthalmia, syndromic 6 607932 Global developmental delay
Green Green List (high evidence)	BRPF1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert Review Green Expert Review Green Phenotypes Intellectual developmental disorder with dysmorphic facies and ptosis 617333
Green Green List (high evidence)	BSCL2	5 reviews 2 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert Review Green Expert Review Red Phenotypes Encephalopathy, progressive, with or without lipodystrophy 615924 Lipodystrophy, congenital generalized, type 2 269700 Neuropathy, distal hereditary motor, type VA 600794 Silver spastic paraplegia syndrome 270685
Green Green List (high evidence)	CACNA1A	5 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert Review Red Phenotypes Epileptic encephalopathy, early infantile, 42 617106 Episodic ataxia, type 2 108500 Migraine, familial hemiplegic, 1 141500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500 Spinocerebellar ataxia 6 183086
Green Green List (high evidence)	CACNA1C	5 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Expert Review Red Phenotypes Brugada syndrome 3 611875 Timothy syndrome 601005
Green Green List (high evidence)	CACNA1D	5 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert Review Green Phenotypes Primary aldosteronism, seizures, and neurologic abnormalities 615474 AD Sinoatrial node dysfunction and deafness 614896 AR
Green Green List (high evidence)	CAMK2A	4 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Green Expert Review Green Phenotypes Intellectual disability
Green Green List (high evidence)	CAMK2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Expert Review Green Phenotypes Mental retardation, autosomal dominant 54 617799
Green Green List (high evidence)	CCDC88C	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Amber Phenotypes ?Spinocerebellar ataxia 40 616053 AD Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR
Green Green List (high evidence)	CDH11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert Review Green Literature Phenotypes Elsahy-Waters syndrome
Green Green List (high evidence)	CDK13	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Phenotypes Congenital heart defects, dysmorphic facial features, and intellectual development disorder 617360
Green Green List (high evidence)	CHD4	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert Review Green Expert Review Green Phenotypes Sifrim-Hitz-Weiss syndrome 617159
Green Green List (high evidence)	CHMP1A	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Red Phenotypes Pontocerebellar hypoplasia, type 8 614961
Green Green List (high evidence)	CIC	4 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert Review Red Phenotypes Mental retardation, autosomal dominant 45 617600
Green Green List (high evidence)	CLCN4	5 reviews 2 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Red Expert Review Green Phenotypes Mental retardation, X-linked 49-15 300114 Tags watchlist
Green Green List (high evidence)	CLTC	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Expert Review Green Phenotypes Mental retardation, autosomal dominant 56, 617854 Autosomal dominant non-syndromic intellectual disability, Epilepsy and intellectual disability
Green Green List (high evidence)	COG5	5 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert Review Red Phenotypes Congenital disorder of glycosylation, type III, 613612 COG5-CDG CDG-III
Green Green List (high evidence)	COQ8A	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 4, 612016 COENZYME Q10 DEFICIENCY
Green Green List (high evidence)	CRADD	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Green Expert Review Green Phenotypes Mental retardation, autosomal recessive 34, with variant lissencephaly 614499
Green Green List (high evidence)	D2HGDH	5 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Expert Review Green Expert Review Red Phenotypes D-2-hydroxyglutaric aciduria, 600721
Green Green List (high evidence)	DAG1	7 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Red 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
Green Green List (high evidence)	DHX30	5 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert Review Red Phenotypes microcephaly, developmental delay intellectual disability, mild cerebral volume loss, hypotonia, seizures, short stature, failure to thrive, and generalized hirsutism
Green Green List (high evidence)	DIS3L2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Amber Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags non-coding-known-pathogenic deletions
Green Green List (high evidence)	DNAJC19	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes 3-methylglutaconic aciduria, type V, 610198
Green Green List (high evidence)	EBF3	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Amber Expert Review Green Phenotypes Hypotonia, ataxia, and delayed development syndrome 617330
Green Green List (high evidence)	ELP2	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Green Expert Review Green Phenotypes Mental retardation, autosomal recessive 58 617270
Green Green List (high evidence)	EML1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes congenital hydrocephalus, profound global developmental delay and intractable epilepsy Band heterotopia, 600348 (includes severe intellectual disability)
Green Green List (high evidence)	EMX2	4 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Schizencephaly 269160
Green Green List (high evidence)	FGF12	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert Review Amber Phenotypes Epileptic encephalopathy, early infantile, 47, 617166
Green Green List (high evidence)	GABRG2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert Review Amber Phenotypes Epilepsy, generalized, with febrile seizures plus, type 3 611277 Febrile seizures, familial, 8 611277 {Epilepsy, childhood absence, susceptibility to, 2} 607681
Green Green List (high evidence)	GFER	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 Intellectual disability
Green Green List (high evidence)	GLIS3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199
Green Green List (high evidence)	GMPPB	6 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Expert Review Red Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352
Green Green List (high evidence)	GPAA1	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Other Expert Review Green Expert Review Green Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 global developmental delay
Green Green List (high evidence)	GRID2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Amber Phenotypes Spinocerebellar ataxia, autosomal recessive 18, 616204
Green Green List (high evidence)	HACE1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert Review Green Phenotypes Spastic paraplegia and psychomotor retardation with or without seizures 616756
Green Green List (high evidence)	HECW2	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Amber Expert Review Green Phenotypes Neurodevelopmental disorder with hypotonia, seizures, and absent language 617268
Green Green List (high evidence)	HIVEP2	5 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert Review Red Phenotypes Mental retardation, autosomal dominant 43, 616977 MRD43 Intellectual disability
Green Green List (high evidence)	HNRNPH2	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 Review Green Phenotypes Mental retardation, X-linked, syndromic, Bain type, 300986 MRXSB
Green Green List (high evidence)	IARS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093
Green Green List (high evidence)	IER3IP1	5 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231 MEDS Intellectual disability
Green Green List (high evidence)	ITPR1	6 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Phenotypes Gillespie syndrome 206700
Green Green List (high evidence)	KCNJ6	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert Review Red Phenotypes Keppen-Lubinsky syndrome 614098
Green Green List (high evidence)	KIAA0586	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Green Expert Review Green Phenotypes Joubert syndrome 23 616490
Green Green List (high evidence)	KIAA1109	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Literature Expert Review Green Phenotypes Brain atrophy, Dandy Walker and Contractures Alkuraya-Kucinskas syndrome,617822
Green Green List (high evidence)	KIDINS220	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296
Green Green List (high evidence)	KIF1BP	8 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Goldberg-Shprintzen megacolon syndrome, 609460
Green Green List (high evidence)	KMT2C	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert Review Red Phenotypes Kleefstra syndrome 2, 617768
Green Green List (high evidence)	KNL1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert Review Green Phenotypes Microcephaly 4, primary, autosomal recessive 604321
Green Green List (high evidence)	LARGE1	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Gene2Phenotype UKGTN Expert Review Green Expert Review Green 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
Green Green List (high evidence)	LINS1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION
Green Green List (high evidence)	LONP1	6 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Red Phenotypes CODAS syndrome, 600373 Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome
Green Green List (high evidence)	MBOAT7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Gene2Phenotype Expert Review Green Phenotypes Mental retardation, autosomal recessive 57, 617188 Intellectual Disability Accompanied by Epilepsy and Autistic Features Autosomal recessive non-syndromic intellectual disability
Green Green List (high evidence)	MBTPS2	5 reviews 2 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Expert Review Green Expert Review Green 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
Green Green List (high evidence)	MDH2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Amber Phenotypes Epileptic encephalopathy, early infantile, 51, 617339
Green Green List (high evidence)	NDST1	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Green Expert Review Green Phenotypes Mental retardation, autosomal recessive 46, 616116 MRT46 Intellectual disability
Green Green List (high evidence)	NEXMIF	5 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Mental retardation, X-linked 98, 300912 KIAA2022
Green Green List (high evidence)	NFIA	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Red 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 Green List (high evidence)	NTRK1	5 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Insensitivity to pain, congenital, with anhidrosis, 256800
Green Green List (high evidence)	OPA3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Green Expert Review Green Phenotypes 3-methylglutaconic aciduria, type III, 258501 Costeff syndrome Cognitive regression
Green Green List (high evidence)	PARN	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Green Expert Review Green Phenotypes Dyskeratosis congenita, autosomal recessive 6, 616353
Green Green List (high evidence)	PDE4D	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Amber Expert Review Green Phenotypes Acrodysostosis 2, with or without hormone resistance, 614613 Acrodysostosis Orphanet:950
Green Green List (high evidence)	PDHX	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert Review Amber Phenotypes Lacticacidemia due to PDX1 deficiency 245349 Tags deletions
Green Green List (high evidence)	PEX11B	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Expert Review Green Expert Review Green Phenotypes Peroxisome biogenesis disorder 14B, 614920 Intellectual disability
Green Green List (high evidence)	PGAP1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Amber Phenotypes Mental retardation, autosomal recessive 42, 615802
Green Green List (high evidence)	PIK3CA	4 reviews 1 green	Unknown	Sources Expert Review Green Expert Review Amber Expert Review Green Phenotypes Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 Megalencephaly-capillary malformation-polymicrogyria syndrome, Orphanet:60040 Tags mosaicism somatic
Green Green List (high evidence)	PLAA	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 NDMSBA Epileptic Encephalopathy
Green Green List (high evidence)	PLPBP	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Epilepsy, early-onset, vitamin B6-dependent, 617290
Green Green List (high evidence)	PNPLA6	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert Review Green Phenotypes Boucher-Neuhauser syndrome, 215470 Oliver-McFarlane syndrome, 275400 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Green Green List (high evidence)	PRKD1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert Review Green Expert Review Green Phenotypes Congenital heart defects and ectodermal dysplasia 617364
Green Green List (high evidence)	PRMT7	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert Review Green Phenotypes Short stature, brachydactyly, intellectual developmental disability, and seizures 617157
Green Green List (high evidence)	PRUNE1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Green Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 NMIHBA Complex neurological syndrome
Green Green List (high evidence)	PUF60	5 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Red Expert Review Green Phenotypes Verheij syndrome, 615583 VRJS Chromosome 8q24.3 deletion syndrome PUF60 syndrome Intellectual disability Tags microdeletion
Green Green List (high evidence)	PUS1	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 Mitochondrial myopathy and sideroblastic anemia 1 MLASA Intellectual disability
Green Green List (high evidence)	PYCR1	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Expert Review Green Expert Review Green Phenotypes Cutis laxa, autosomal recessive, type IIB, 612940 ARCL2B Intellectual disability
Green Green List (high evidence)	PYCR2	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Green Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 10, 616420 intellectual disability Postnatal microcephaly, hypomyelination, and reduced cerebral white-matter volume
Green Green List (high evidence)	QARS	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Green Expert Review Green Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 Intellectual disability
Green Green List (high evidence)	RAC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Expert Review Green Phenotypes intellectual disability developmental delay
Green Green List (high evidence)	RERE	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert Review Amber Phenotypes Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 616975
Green Green List (high evidence)	RLIM	4 reviews 1 green 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Expert Review Red Phenotypes Mental retardation, X-linked 61, 300978 Intellectual disability Tags watchlist missense
Green Green List (high evidence)	RRM2B	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
Green Green List (high evidence)	RTTN	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Green Expert Review Green Phenotypes Microcephaly, short stature, and polymicrogyria with seizures, 614833 Intellectual disability
Green Green List (high evidence)	SERAC1	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Expert Review Green Expert Review Green Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 MEGDEL syndrome 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome MEGDHEL syndrome Intellectual disability
Green Green List (high evidence)	SIN3A	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert Review Amber Phenotypes Witteveen-Kolk syndrome, 613406 Syndromic intellectual disability
Green Green List (high evidence)	SLC33A1	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Congenital cataracts, hearing loss, and neurodegeneration, 614482
Green Green List (high evidence)	SLC6A9	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Glycine encephalopathy with normal serum glycine, 617301 Glycine encephalopathy and global developmental delay Tags watchlist
Green Green List (high evidence)	SMAD4	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Red Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Myhre syndrome, 139210 Includes intellectual disability
Green Green List (high evidence)	SMC3	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cornelia de Lange syndrome 3, 610759 CDLS3
Green Green List (high evidence)	SON	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Amber Expert Review Green Phenotypes ZTTK syndrome 617140
Green Green List (high evidence)	SPART	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert Review Green Phenotypes Troyer syndrome MIM:275900 developmental delay
Green Green List (high evidence)	SPTBN2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Amber Phenotypes Spinocerebellar ataxia, autosomal recessive 14 MIM:615386 Developmental delay
Green Green List (high evidence)	ST3GAL5	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Red Phenotypes Salt and pepper developmental regression syndrome, 609056 Developmental regression Intellectual disability
Green Green List (high evidence)	STAG1	5 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert Review Red Phenotypes Mental retardation, autosomal dominant 47, 617635 Syndromic unspecific intellectual disability Tags microdeletion
Green Green List (high evidence)	SZT2	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 18, 615476 developmental delay non-syndromic intellectual disability absent developmental milestones
Green Green List (high evidence)	TAF1	5 reviews 2 green 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Red Expert Review Green Phenotypes Mental retardation, X-linked, syndromic 33, 300966 global developmental delay intellectual disability
Green Green List (high evidence)	TBCD	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Green Expert Review Green Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 617193
Green Green List (high evidence)	TBCK	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Amber Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 616900
Green Green List (high evidence)	TECPR2	6 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Red Phenotypes Spastic paraplegia 49, autosomal recessive, 615031
Green Green List (high evidence)	THOC2	4 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert Review Green Expert Review Green Phenotypes Mental retardation, X-linked 12/35, 300957
Green Green List (high evidence)	THOC6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Beaulieu-Boycott-Innes syndrome, 613680 Includes developmental delay and mental retardation
Green Green List (high evidence)	TMEM240	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Amber Expert Review Green Phenotypes Spinocerebellar ataxia 21, 607454
Green Green List (high evidence)	TMTC3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Lissencephaly 8, 617255 includes intellectual disability
Green Green List (high evidence)	TRIP12	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Amber Expert Review Green Phenotypes Mental retardation, autosomal dominant 49 617752
Green Green List (high evidence)	TRIT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes developmental delay
Green Green List (high evidence)	TRMT10A	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert Review Green Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, 616033 Young onset diabetes, short stature and microcephaly with intellectual disability
Green Green List (high evidence)	TTC37	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Phenotypes Trichohepatoenteric syndrome 1, 222470
Green Green List (high evidence)	UBA5	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 44, 617132 Intellectual disability
Green Green List (high evidence)	UBTF	4 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Green Expert Review Green Phenotypes developmental regression motor and language regression developmental delay Neurodegeneration, childhood-onset, with brain atrophy, 617672
Green Green List (high evidence)	UNC80	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Green Expert Review Green Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 616801
Green Green List (high evidence)	VAMP1	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Green Expert Review Green Phenotypes congenital myasthenic syndrome (CMS) and delayed development Tags watchlist
Green Green List (high evidence)	WDR81	6 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes cerebellar ataxia, intellectual disability and quadrupedal locomotion Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
Green Green List (high evidence)	ZBTB18	5 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert Review Red Phenotypes intellectual disability with variable features global developmental delay Mental retardation, autosomal dominant 22, 612337
Green Green List (high evidence)	ZSWIM6	3 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 watchlist curated-variant-list
Green Green List (high evidence)	AARS	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT.
Green Green List (high evidence)	AASS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HYPERLYSINEMIA
Green Green List (high evidence)	ABCC9	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Cardiomyopathy, dilated, 10, 608569 Atrial fibrillation, familial, 12, 614050 Hypertrichotic osteochondrodysplasia, 239850 CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
Green Green List (high evidence)	ABCD1	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Adrenoleukodystrophy, 300100 Adrenomyeloneuropathy, adult, 300100 ADRENOLEUKODYSTROPHY, X-LINKED Tags gene-therapy-trial
Green Green List (high evidence)	ABCD4	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
Green Green List (high evidence)	ABHD5	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Chanarin-Dorfman syndrome, 275630 CHANARIN-DORFMAN SYNDROME (CDS)
Green Green List (high evidence)	ACAD9	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes ACAD9 deficiency, 611126 ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY
Green Green List (high evidence)	ACADM	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY
Green Green List (high evidence)	ACO2	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes INFANTILE CEREBELLAR-RETINAL DEGENERATION
Green Green List (high evidence)	ACOX1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisomal acyl-CoA oxidase deficiency, 264470 ADRENOLEUKODYSTROPHY PSEUDONEONATAL (PSEUDO-NALD)
Green Green List (high evidence)	ACSL4	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Expert Review Green Phenotypes Mental retardation, X-linked 63, 300387 ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS (ATS-MR)
Green Green List (high evidence)	ACTB	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310 BARAITSER-WINTER SYNDROME
Green Green List (high evidence)	ACTG1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Deafness, autosomal dominant 20/26, 604717Baraitser-Winter syndrome 2, 614583 BARAITSER-WINTER SYNDROME
Green Green List (high evidence)	ACY1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Aminoacylase 1 deficiency, 609924 AMINOACYLASE-1 DEFICIENCY
Green Green List (high evidence)	ADAR	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Dyschromatosis symmetrica hereditaria, 127400Aicardi-Goutieres syndrome 6, 615010 DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1
Green Green List (high evidence)	ADGRG1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Polymicrogyria, bilateral frontoparietal, 606854
Green Green List (high evidence)	ADNP	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28 MRD28
Green Green List (high evidence)	ADSL	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes ade(-)I bifunctional Adenylosuccinase deficiency, 103050 ADENYLOSUCCINASE DEFICIENCY (ADSL DEFICIENCY)
Green Green List (high evidence)	AFF2	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Phenotypes Mental retardation, X-linked, FRAXE type, 309548 FRAXE Syndrome FRAGILE X-E MENTAL RETARDATION SYNDROME (FRAXE) Tags nucleotide-repeat-expansion
Green Green List (high evidence)	AFF4	6 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes CORNELIA DE LANGE-LIKE SYNDROME
Green Green List (high evidence)	AFG3L2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SPINOCEREBELLAR ATAXIA 28
Green Green List (high evidence)	AGA	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Emory Genetics Laboratory Phenotypes Aspartylglucosaminuria, 208400 ASPARTYLGLUCOSAMINURIA (AGU)
Green Green List (high evidence)	AGPS	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 (RCDP3)
Green Green List (high evidence)	AHDC1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes XIA-GIBBS SYNDROME
Green Green List (high evidence)	AIFM1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Combined oxidative phosphorylation deficiency 6, 300816Cowchock syndrome, 310490 COWCHOCK SYNDROME
Green Green List (high evidence)	AIMP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 3, 260600 LEUKODYSTROPHY, HYPOMYELINATING, 3
Green Green List (high evidence)	AKT3	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387 HEMIMEGALENCEPHALY AKT3 Tags mosaicism
Green Green List (high evidence)	ALDH18A1	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cutis laxa, autosomal recessive, type IIIA, 219150 SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT SPG9
Green Green List (high evidence)	ALDH3A2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Sjogren-Larsson syndrome, 270200 SJOEGREN-LARSSON SYNDROME (SLS)
Green Green List (high evidence)	ALDH4A1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hyperprolinemia, type II, 239510 HYPERPROLINEMIA TYPE 2 (HP-2)
Green Green List (high evidence)	ALDH5A1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Succinic semialdehyde dehydrogenase deficiency, 271980 SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
Green Green List (high evidence)	ALDH7A1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PYRIDOXINE-DEPENDENT EPILEPSY
Green Green List (high evidence)	ALG1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Congenital disorder of glycosylation, type Ik, 608540 ALG1-CDG (CDG-IK)
Green Green List (high evidence)	ALG11	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ip 613661 ALG11-CDG (CDG-IP) Tags watchlist
Green Green List (high evidence)	ALG12	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G (CDG1G)
Green Green List (high evidence)	ALG13	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHIES.
Green Green List (high evidence)	ALG3	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type Id, 601110 ALG3-CDG (CDG-ID)
Green Green List (high evidence)	ALG6	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ic, 603147 ALG6-CDG (CDG-IC)
Green Green List (high evidence)	ALG8	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ih, 608104 ALG8-CDG (CDG-IH)
Green Green List (high evidence)	ALMS1	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ALSTROM SYNDROME, 203800
Green Green List (high evidence)	ALS2	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ALS2-RELATED DISORDERS Amyotrophic lateral sclerosis 2, juvenile, 205100
Green Green List (high evidence)	AMPD2	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PONTOCEREBELLAR HYPOPLASIA Pontocerebellar hypoplasia, type 9, 615809
Green Green List (high evidence)	AMT	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Glycine encephalopathy, 605899 GLYCINE ENCEPHALOPATHY
Green Green List (high evidence)	ANKH	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Craniometaphyseal dysplasia, 123000Chondrocalcinosis 2, 118600 CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE (CMDJ)
Green Green List (high evidence)	ANKRD11	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes KBG syndrome, 148050 KBG SYNDROME
Green Green List (high evidence)	AP1S2	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 syndromic, Fried type, 300630 MENTAL RETARDATION X-LINKED TYPE 59 (MRX59)
Green Green List (high evidence)	AP4B1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Spastic paraplegia 47, autosomal recessive, 614066 CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5
Green Green List (high evidence)	AP4E1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 51, autosomal recessive, 613744 CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4
Green Green List (high evidence)	AP4M1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 50, autosomal recessive, 612936 CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 (CPSQ3)
Green Green List (high evidence)	AP4S1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 52, autosomal recessive, 614067 CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6
Green Green List (high evidence)	APOPT1	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX IV DEFICIENCY, 220110
Green Green List (high evidence)	APTX	4 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 ATAXIA WITH OCULOMOTOR APRAXIA 1
Green Green List (high evidence)	ARFGEF2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Periventricular heterotopia with microcephaly, 608097 PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY
Green Green List (high evidence)	ARG1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Argininemia, 207800 ARGININEMIA (ARGIN)
Green Green List (high evidence)	ARHGEF6	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Mental retardation, X-linked 46, 300436 Mental Retardation, X-linked MENTAL RETARDATION X-LINKED TYPE 46
Green Green List (high evidence)	ARHGEF9	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 Epileptic encephalopathy, early infantile, 8, 300607 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8
Green Green List (high evidence)	ARID1A	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal dominant 14, 614607 COFFIN-SIRIS SYNDROME CSS
Green Green List (high evidence)	ARID1B	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal dominant 12, 614562 COFFIN SIRIS SYNDROME
Green Green List (high evidence)	ARL6	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bardet-Biedl syndrome 3, 209900{Bardet-Biedl syndrome 1, modifier of}, 209900Retinitis pigmentosa 55, 613575 BARDET-BIEDL SYNDROME TYPE 3 (BBS3)
Green Green List (high evidence)	ARMC9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Joubert syndrome Intellectual Disability
Green Green List (high evidence)	ARSA	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ARYLSULFATASE A DEFICIENCY
Green Green List (high evidence)	ARSB	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 6 (MPS6)
Green Green List (high evidence)	ARSE	4 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
Green Green List (high evidence)	ARX	4 reviews 4 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Phenotypes Epileptic encephalopathy, early infantile, 1, 308350Lissencephaly, X-linked 2, 300215Mental retardation, X-linked 29 and others, 300419Proud syndrome, 300004Partington syndrome, 309510Hydranencephaly with abnormal genitalia, 300215 MENTAL RETARDATION X-LINKED ARX-RELATED (MRXARX) Tags nucleotide-repeat-expansion
Green Green List (high evidence)	ASAH1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes FARBER LIPOGRANULOMATOSIS
Green Green List (high evidence)	ASH1L	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Autism intellectual disability and autistic features MCA, intellectual disability, and behavioral problems
Green Green List (high evidence)	ASPA	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Canavan disease, 271900 CANAVAN DISEASE
Green Green List (high evidence)	ASPM	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Microcephaly 5, primary, autosomal recessive, 608716 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY
Green Green List (high evidence)	ASXL1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bohring-Opitz syndrome, 605039Myelodysplastic syndrome, somatic, 614286 BOHRING-OPITZ SYNDROME
Green Green List (high evidence)	ASXL3	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes BAINBRIDGE-ROPERS SYNDROME BRPS
Green Green List (high evidence)	ATAD3A	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Harel-Yoon syndrome 617183
Green Green List (high evidence)	ATIC	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes AICA-ribosiduria due to ATIC deficiency, 608688 AICA-RIBOSURIA (AICAR)
Green Green List (high evidence)	ATM	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ATAXIA-TELANGIECTASIA AT
Green Green List (high evidence)	ATP13A2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PARKINSON DISEASE 9
Green Green List (high evidence)	ATP1A3	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes RAPID-ONSET DYSTONIA-PARKINSONISM
Green Green List (high evidence)	ATP6V1B2	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes ZIMMERMANN-LABAND SYNDROME
Green Green List (high evidence)	ATP7A	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 Menkes disease, 309400Occipital horn syndrome, 304150Spinal muscular atrophy, distal, X-linked 3, 300489 OCCIPITAL HORN SYNDROME
Green Green List (high evidence)	ATR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Seckel syndrome 1, 210600Cutaneous telangiectasia and cancer syndrome, familial, 614564 SECKEL SYNDROME TYPE 1 (SCKL1)
Green Green List (high evidence)	ATRX	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Alpha-thalassemia/mental retardation syndrome, 301040Alpha-thalassemia myelodysplasia syndrome, somatic, 300448Mental retardation-hypotonic facies syndrome, X-linked, 309580 MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1 (MRXSHF1)
Green Green List (high evidence)	AUH	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes 3-methylglutaconic aciduria, type I, 250950 3-METHYLGLUTACONIC ACIDURIA TYPE 1
Green Green List (high evidence)	AUTS2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes SYNDROMIC INTELLECTUAL DISABILITY
Green Green List (high evidence)	B3GALNT2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
Green Green List (high evidence)	B4GALNT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes ID Spastic paraplegia 26, autosomal recessive
Green Green List (high evidence)	B4GALT7	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ehlers-Danlos syndrome, progeroid type, 1, 130070 EHLERS-DANLOS SYNDROME PROGEROID TYPE (EDSP)
Green Green List (high evidence)	BBS1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bardet-Biedl syndrome 1, 209900 BARDET-BIEDL SYNDROME TYPE 1 (BBS1)
Green Green List (high evidence)	BBS10	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bardet-Biedl syndrome 10, 209900 BARDET-BIEDL SYNDROME TYPE 10 (BBS10)
Green Green List (high evidence)	BBS12	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Bardet-Biedl syndrome 12, 209900 BARDET-BIEDL SYNDROME TYPE 12 (BBS12)
Green Green List (high evidence)	BBS2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bardet-Biedl syndrome 2, 209900 BARDET-BIEDL SYNDROME TYPE 2 (BBS2)
Green Green List (high evidence)	BBS4	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bardet-Biedl syndrome 4, 209900 BARDET-BIEDL SYNDROME TYPE 4 (BBS4)
Green Green List (high evidence)	BBS5	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bardet-Biedl syndrome 5, 209900 BARDET-BIEDL SYNDROME TYPE 5 (BBS5)
Green Green List (high evidence)	BBS7	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Bardet-Biedl syndrome 7, 209900 BARDET-BIEDL SYNDROME TYPE 7 (BBS7)
Green Green List (high evidence)	BBS9	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bardet-Biedl syndrome 9, 209900 BARDET-BIEDL SYNDROME TYPE 9 (BBS9)
Green Green List (high evidence)	BCAP31	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
Green Green List (high evidence)	BCKDHA	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Maple syrup urine disease, type Ia, 248600 MAPLE SYRUP URINE DISEASE
Green Green List (high evidence)	BCKDHB	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Maple syrup urine disease, type Ib, 248600 MAPLE SYRUP URINE DISEASE
Green Green List (high evidence)	BCL11A	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes INTELLECTUAL DISABILITY
Green Green List (high evidence)	BCOR	3 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Microphthalmia, syndromic 2, 300166 MICROPHTHALMIA SYNDROMIC TYPE 2 (MCOPS2)
Green Green List (high evidence)	BLM	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bloom syndrome, 210900 BLOOM SYNDROME
Green Green List (high evidence)	BOLA3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2
Green Green List (high evidence)	BRAF	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources 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)
Green Green List (high evidence)	BRAT1	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME
Green Green List (high evidence)	BRWD3	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources 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)
Green Green List (high evidence)	BTD	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Biotinidase deficiency, 253260 BIOTINIDASE DEFICIENCY
Green Green List (high evidence)	BUB1B	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources 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
Green Green List (high evidence)	C12orf57	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Temtamy syndrome, 218340 TEMTAMY SYNDROME COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY
Green Green List (high evidence)	C12orf65	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
Green Green List (high evidence)	C5orf42	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes JOUBERT SYNDROME Tags new-gene-name
Green Green List (high evidence)	CA2	4 reviews 3 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)
Green Green List (high evidence)	CA8	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 (CMARQ3)
Green Green List (high evidence)	CACNA1G	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Spinocerebellar ataxia 42 616795 Cerebellar atrophy, epilepsy, intellectual disability
Green Green List (high evidence)	CAMTA1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
Green Green List (high evidence)	CASK	3 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Expert Review Green 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)
Green Green List (high evidence)	CBL	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA
Green Green List (high evidence)	CBS	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Homocystinuria, B6-responsive and nonresponsive types, 236200 Thrombosis, hyperhomocysteinemic, 236200 CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (CBSD)
Green Green List (high evidence)	CC2D1A	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal recessive 3, 608443 MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 (MRT3)
Green Green List (high evidence)	CC2D2A	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Joubert syndrome 9, 612285Meckel syndrome 6, 612284COACH syndrome, 216360 MECKEL SYNDROME, TYPE 6 MKS6
Green Green List (high evidence)	CCBE1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hennekam lymphangiectasia-lymphedema syndrome, 235510 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME (HLLS)
Green Green List (high evidence)	CCDC22	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Emory Genetics Laboratory Phenotypes SYNDROMIC X-LINKED INTELLECTUAL DISABILITY
Green Green List (high evidence)	CCDC8	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes THREE M SYNDROME 3 614205
Green Green List (high evidence)	CCND2	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME
Green Green List (high evidence)	CDC6	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MEIER-GORLIN SYNDROME 5
Green Green List (high evidence)	CDH15	4 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Mental retardation, autosomal dominant 3, 612580 MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 3 (MRD3)
Green Green List (high evidence)	CDK5RAP2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Microcephaly 3, primary, autosomal recessive, 604804 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY
Green Green List (high evidence)	CDKL5	3 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources 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)
Green Green List (high evidence)	CDON	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Holoprosencephaly 11, 614226 HOLOPROSENCEPHALY 11
Green Green List (high evidence)	CDT1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MEIER-GORLIN SYNDROME 4
Green Green List (high evidence)	CENPF	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Stromme syndrome 243605 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Green Green List (high evidence)	CENPJ	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Microcephaly 6, primary, autosomal recessive, 608393Seckel syndrome 4, 613676 MICROCEPHALY PRIMARY TYPE 6 (MCPH6)
Green Green List (high evidence)	CEP135	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Microcephaly 8, primary, autosomal recessive, 614673 PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION
Green Green List (high evidence)	CEP152	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Microcephaly 9, primary, autosomal recessive, 614852Seckel syndrome 5, 613823 MICROCEPHALY PRIMARY TYPE 4 (MCPH4)
Green Green List (high evidence)	CEP290	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources 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)
Green Green List (high evidence)	CEP41	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Joubert syndrome 15, 614464 JOUBERT SYNDROME 15
Green Green List (high evidence)	CEP57	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
Green Green List (high evidence)	CEP83	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
Green Green List (high evidence)	CHAMP1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes INTELLECTUAL DISABILITY
Green Green List (high evidence)	CHD2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Epileptic encephalopathy, childhood-onset, 615369 EPILEPTIC ENCEPHALOPATHY
Green Green List (high evidence)	CHD7	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources 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)
Green Green List (high evidence)	CHD8	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes AUTISM
Green Green List (high evidence)	CISD2	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes WOLFRAM SYNDROME TYPE 2
Green Green List (high evidence)	CIT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Microcephaly 17, primary, autosomal recessive, 617090
Green Green List (high evidence)	CKAP2L	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION
Green Green List (high evidence)	CLN3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ceroid lipofuscinosis, neuronal, 3, 204200 NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 (CLN3)
Green Green List (high evidence)	CLN5	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 5, 256731 NEURONAL CEROID LIPOFUSCINOSIS TYPE 5 (CLN5)
Green Green List (high evidence)	CLN6	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ceroid lipofuscinosis, neuronal, 6, 601780Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 CEROID LIPOFUSCINOSIS, NEURONAL, 6
Green Green List (high evidence)	CLN8	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ceroid lipofuscinosis, neuronal, 8, 600143Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 (CLN8)
Green Green List (high evidence)	CLP1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PONTOCEREBELLAR HYPOPLASIA, TYPE 10
Green Green List (high evidence)	CLPB	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA
Green Green List (high evidence)	CNKSR2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Emory Genetics Laboratory Phenotypes INTELLECTUAL DISABILITY WITH EPILEPSY X-linked intellectual disability XLID
Green Green List (high evidence)	CNNM2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Expert Review Green Expert Review Literature Phenotypes Hypomagnesemia, seizures, and mental retardation 616418
Green Green List (high evidence)	CNTNAP2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources 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)
Green Green List (high evidence)	COASY	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
Green Green List (high evidence)	COG1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Congenital disorder of glycosylation, type IIg, 611209 COG1-CDG (CDG-IIG)
Green Green List (high evidence)	COG4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIj, 613489 COG4-CDG (CDG-IIJ)
Green Green List (high evidence)	COG7	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Congenital disorder of glycosylation, type IIe, 608779 COG7-CDG (CDG-IIE)
Green Green List (high evidence)	COG8	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIh, 611182 COG8-CDG (CDG-IIH)
Green Green List (high evidence)	COL4A1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Porencephaly 1, 175780Brain small vessel disease with hemorrhage, 607595Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773Brain small vessel disease with Axenfeld-Rieger anomaly, 607595{Hemorrhage, intracerebral, susceptibility to}, 614519 PORENCEPHALY 1
Green Green List (high evidence)	COL4A2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Porencephaly 2, 614483{Hemorrhage, intracerebral, susceptibility to}, 614519 PORENCEPHALY 2
Green Green List (high evidence)	COL4A3BP	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes INTELLECTUAL DISABILITY
Green Green List (high evidence)	COLEC11	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes 3MC syndrome 2, 265050 3MC SYNDROME 2
Green Green List (high evidence)	COQ4	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes COENZYME Q10 DEFICIENCY, PRIMARY, 7
Green Green List (high evidence)	COX10	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes LEIGH SYNDROME (LS)
Green Green List (high evidence)	COX15	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leigh syndrome due to cytochrome c oxidase deficiency, 256000Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 MITOCHONDRIAL COMPLEX IV DEFICIENCY (MT-C4D)
Green Green List (high evidence)	COX6B1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX IV DEFICIENCY (MT-C4D)
Green Green List (high evidence)	CPS1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources 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)
Green Green List (high evidence)	CRB2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE
Green Green List (high evidence)	CREBBP	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Rubinstein-Taybi syndrome, 180849 RUBINSTEIN-TAYBI SYNDROME TYPE 1 (RSTS1)
Green Green List (high evidence)	CSNK2A1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Okur-Chung neurodevelopmental syndrome Tags watchlist
Green Green List (high evidence)	CSPP1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY
Green Green List (high evidence)	CSTB	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes UNVERRICHT-LUNDBORG DISEASE Tags nucleotide-repeat-expansion
Green Green List (high evidence)	CTC1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS
Green Green List (high evidence)	CTCF	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes INTELLECTUAL DISABILITY
Green Green List (high evidence)	CTDP1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, 604168 CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME (CCFDN) Tags watchlist
Green Green List (high evidence)	CTNNB1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal dominant 19, 615075Colorectal cancer, somatic, 114500Pilomatricoma, somatic, 132600Ovarian cancer, somatic, 167000Hepatocellular carcinoma, somatic, 114550 MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
Green Green List (high evidence)	CTSA	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Galactosialidosis, 256540 GALACTOSIALIDOSIS (GSL)
Green Green List (high evidence)	CTSD	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 10, 610127 NEURONAL CEROID LIPOFUSCINOSIS TYPE 10 (CLN10)
Green Green List (high evidence)	CUL4B	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 UKGTN Phenotypes Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE (MRXC)
Green Green List (high evidence)	CYB5R3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Methemoglobinemia, type I, 250800Methemoglobinemia, type II, 250800 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE
Green Green List (high evidence)	CYC1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 MC3DN6
Green Green List (high evidence)	CYP2U1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HEREDITARY SPASTIC PARAPLEGIA
Green Green List (high evidence)	DARS	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY.
Green Green List (high evidence)	DARS2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION
Green Green List (high evidence)	DBT	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Maple syrup urine disease, type II, 248600 MAPLE SYRUP URINE DISEASEQ
Green Green List (high evidence)	DCAF17	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Woodhouse-Sakati syndrome, 241080 WOODHOUSE-SAKATI SYNDROME (WOSAS)
Green Green List (high evidence)	DCHS1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PERIVENTRICULAR NEURONAL HETEROTOPIA
Green Green List (high evidence)	DCX	3 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Lissencephaly, X-linked, 300067Subcortical laminal heteropia, X-linked, 300067 SUBCORTICAL BAND HETEROTOPIA X-LINKED (SBHX)
Green Green List (high evidence)	DDC	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY
Green Green List (high evidence)	DDHD2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 54, autosomal recessive, 615033 COMPLEX HEREDITARY SPASTIC PARAPLEGIA
Green Green List (high evidence)	DDOST	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR CDG1R
Green Green List (high evidence)	DDX11	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes WARSAW BREAKAGE SYNDROME (WBRS)
Green Green List (high evidence)	DDX3X	4 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Intellectual disability, Mental retardation, X-linked 102, 300958
Green Green List (high evidence)	DEAF1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
Green Green List (high evidence)	DEPDC5	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI (FFEVF)
Green Green List (high evidence)	DHCR24	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Desmosterolosis, 602398 DESMOSTEROLOSIS
Green Green List (high evidence)	DHCR7	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Smith-Lemli-Opitz syndrome, 270400 SMITH-LEMLI-OPITZ SYNDROME (SLOS)
Green Green List (high evidence)	DHFR	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY
Green Green List (high evidence)	DHTKD1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes 2-aminoadipic 2-oxoadipic aciduria, 204750 Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA
Green Green List (high evidence)	DIAPH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Seizures, cortical blindness, microcephaly syndrome, 616632 developmental delay intellectual disability
Green Green List (high evidence)	DKC1	4 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Expert Review Green Phenotypes Dyskeratosis congenita, X-linked, 305000 DKC1-RELATED DYSKERATOSIS CONGENITA
Green Green List (high evidence)	DLD	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Dihydrolipoamide dehydrogenase deficiency, 246900 DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY
Green Green List (high evidence)	DLG3	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 90, 300850 MENTAL RETARDATION X-LINKED TYPE 90 (MRX90)
Green Green List (high evidence)	DMD	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Expert Review Green Phenotypes Duchenne muscular dystrophy, 310200Becker muscular dystrophy, 300376Cardiomyopathy, dilated, 3B, 302045 BECKER MUSCULAR DYSTROPHY (BMD) Tags gene-therapy-trial
Green Green List (high evidence)	DNAJC12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 Hyperphenylalaninemia, Dystonia, and Intellectual Disability
Green Green List (high evidence)	DNM1	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY
Green Green List (high evidence)	DNMT3A	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY
Green Green List (high evidence)	DNMT3B	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
Green Green List (high evidence)	DOCK7	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 EIEE23
Green Green List (high evidence)	DOCK8	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Mental retardation, autosomal dominant 2, 614113Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE (AR-HIES)
Green Green List (high evidence)	DOLK	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION
Green Green List (high evidence)	DPAGT1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources 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
Green Green List (high evidence)	DPM1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Congenital disorder of glycosylation, type Ie, 608799 CONGENITAL DISORDERS OF GLYCOSYLATION
Green Green List (high evidence)	DPP6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes autosomal dominant microcephaly and mental retardation Mental retardation, autosomal dominant 33, 616311 Tags deletions
Green Green List (high evidence)	DPYD	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Dihydropyrimidine dehydrogenase deficiency, 2742705-fluorouracil toxicity, 274270 Tags pharmacogenetics
Green Green List (high evidence)	DYM	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Dyggve-Melchior-Clausen disease, 223800Smith-McCort dysplasia, 607326 SMITH-MCCORT DYSPLASIA (SMC)
Green Green List (high evidence)	DYNC1H1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources 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
Green Green List (high evidence)	DYRK1A	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal dominant 7, 614104 MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7
Green Green List (high evidence)	EBP	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 Phenotypes CHONDRODYSPLASIA PUNCTATA 2, X-LINKED
Green Green List (high evidence)	EDNRB	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes ABCD SYNDROME
Green Green List (high evidence)	EED	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cohen-Gibson syndrome 617561
Green Green List (high evidence)	EEF1A2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes INFANTILE EPILEPTIC ENCEPHALOPATHY
Green Green List (high evidence)	EFTUD2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mandibulofacial dysostosis, Guion-Almeida type, 610536 MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY MFDM
Green Green List (high evidence)	EHMT1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Kleefstra syndrome, 610253 9Q SUBTELOMERIC DELETION SYNDROME (9Q- SYNDROME)
Green Green List (high evidence)	EIF2AK3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Wolcott-Rallison syndrome, 226980 WOLCOTT-RALLISON SYNDROME (WRS)
Green Green List (high evidence)	EIF2S3	4 reviews 1 green 2 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Mental retardation, X-linked, syndromic, Borck type, 300987
Green Green List (high evidence)	ELAC2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY
Green Green List (high evidence)	ELOVL4	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Stargardt disease 3, 600110Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110Ichthyosis, spastic quadriplegia, and mental retardation, 614457 ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
Green Green List (high evidence)	EP300	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes RUBINSTEIN-TAYBI SYNDROME TYPE 2 (RSTS2)
Green Green List (high evidence)	EPG5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Green Green List (high evidence)	ERCC1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes FANCONI ANEMIA
Green Green List (high evidence)	ERCC2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources 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)
Green Green List (high evidence)	ERCC3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Xeroderma pigmentosum, group B, 610651Trichothiodystrophy, 601675 XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B (XP-B)
Green Green List (high evidence)	ERCC5	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources 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)
Green Green List (high evidence)	ERCC6	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cockayne syndrome, type B, 133540Cerebrooculofacioskeletal syndrome 1, 214150De Sanctis-Cacchione syndrome, 278800{Macular degeneration, age-related, susceptibility to 5}, 613761UV-sensitive syndrome 1, 600630{Lung cancer, susceptibility to}, 211980 DE SANCTIS-CACCHIONE SYNDROME (DSC)
Green Green List (high evidence)	ERCC6L2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bone marrow failure syndrome 2, 615715
Green Green List (high evidence)	ERCC8	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cockayne syndrome, type A, 216400UV-sensitive syndrome 2, 614621 COCKAYNE SYNDROME TYPE A (CSA)
Green Green List (high evidence)	ESCO2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Roberts syndrome, 268300SC phocomelia syndrome, 269000 SC PHOCOMELIA SYNDROME (SCPS)
Green Green List (high evidence)	ETFA	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GLUTARIC ACIDURIA TYPE 2A
Green Green List (high evidence)	ETFB	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GLUTARIC ACIDURIA TYPE 2B
Green Green List (high evidence)	ETFDH	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GLUTARIC ACIDURIA TYPE 2C
Green Green List (high evidence)	ETHE1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ethylmalonic encephalopathy, 602473 ETHYLMALONIC ENCEPHALOPATHY
Green Green List (high evidence)	EXOSC3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PONTOCEREBELLAR HYPOPLASIA TYPE 1
Green Green List (high evidence)	EXTL3	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425
Green Green List (high evidence)	EZH2	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes WEAVER SYNDROME 2
Green Green List (high evidence)	FAM111A	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes KENNY-CAFFEY SYNDROME (KCS [MIM 127000])
Green Green List (high evidence)	FAM126A	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 5, 610532 LEUKODYSTROPHY HYPOMYELINATING TYPE 5 (HLD5)
Green Green List (high evidence)	FAM20C	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes RAINE SYNDROME
Green Green List (high evidence)	FAR1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS
Green Green List (high evidence)	FAT4	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PERIVENTRICULAR NEURONAL HETEROTOPIA
Green Green List (high evidence)	FBXL4	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE
Green Green List (high evidence)	FGD1	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 Aarskog-Scott syndrome, 305400Mental retardation, X-linked syndromic 16, 305400 AARSKOG-SCOTT SYNDROME (AAS)
Green Green List (high evidence)	FH	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Fumarase deficiency, 606812Leiomyomatosis and renal cell cancer, 150800 FUMARASE DEFICIENCY
Green Green List (high evidence)	FIG4	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
Green Green List (high evidence)	FKRP	3 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, 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)
Green Green List (high evidence)	FKTN	3 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, 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)
Green Green List (high evidence)	FLNA	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 Frontometaphyseal dysplasia, 305620Heterotopia, periventricular, ED variant, 300537FG syndrome 2, 300321Cardiac valvular dysplasia, X-linked, 314400Terminal osseous dysplasia, 300244Congenital short bowel syndrome, 300048 EPILEPTIC ENCEPHALOPATHY
Green Green List (high evidence)	FLVCR1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA
Green Green List (high evidence)	FLVCR2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME
Green Green List (high evidence)	FMN2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes NONSYNDROMIC AUTOSOMAL-RECESSIVE INTELLECTUAL DISABILITY
Green Green List (high evidence)	FMR1	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 Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Expert Review Green Phenotypes Fragile X syndrome, 300624Fragile X tremor/ataxia syndrome, 300623Premature ovarian failure 1, 311360 PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 (POF1) Tags currently-ngs-unreportable nucleotide-repeat-expansion
Green Green List (high evidence)	FOLR1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY
Green Green List (high evidence)	FOXG1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Rett syndrome, congenital variant, 613454 CONGENITAL VARIANT OF RETT SYNDROME (RTTCV)
Green Green List (high evidence)	FOXP1	3 reviews 3 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 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)
Green Green List (high evidence)	FOXP2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Speech-Language Disorder 1 SPEECH-LANGUAGE DISORDER 1
Green Green List (high evidence)	FOXRED1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY
Green Green List (high evidence)	FTCD	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY (FIGLU-URIA) Tags ngs-false-positive-region
Green Green List (high evidence)	FTSJ1	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 9, 309549 MENTAL RETARDATION X-LINKED TYPE 44 (MRX44)
Green Green List (high evidence)	FUCA1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Fucosidosis, 230000 FUCOSIDOSIS (FUCA1D)
Green Green List (high evidence)	GABRA1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes JUVENILE MYOCLONIC EPILEPSY
Green Green List (high evidence)	GABRB3	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes CHILDHOOD ABSENCE EPILEPSY TYPE 5
Green Green List (high evidence)	GALC	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes KRABBE DISEASE
Green Green List (high evidence)	GALE	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Galactose epimerase deficiency, 230350 EPIMERASE-DEFICIENCY GALACTOSEMIA (EDG)
Green Green List (high evidence)	GALT	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Galactosemia, 230400 GALACTOSEMIA (GALCT)
Green Green List (high evidence)	GAMT	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cerebral creatine deficiency syndrome 2, 612736 GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY (GAMT DEFICIENCY)
Green Green List (high evidence)	GATAD2B	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
Green Green List (high evidence)	GATM	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Cerebral creatine deficiency syndrome 3, 612718 ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY (AGAT DEFICIENCY)
Green Green List (high evidence)	GCDH	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GLUTARICACIDEMIA TYPE 1
Green Green List (high evidence)	GCH1	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)
Green Green List (high evidence)	GDI1	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 41, 300849 MENTAL RETARDATION X-LINKED TYPE 41 (MRX41)
Green Green List (high evidence)	GFAP	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Alexander disease, 203450 ALEXANDER DISEASE
Green Green List (high evidence)	GFM1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
Green Green List (high evidence)	GJC2	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 2, 608804Spastic paraplegia 44, autosomal recessive, 613206Lymphedema, hereditary, IC, 613480 LYMPHEDEMA, HEREDITARY, IC
Green Green List (high evidence)	GK	4 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 Phenotypes Glycerol kinase deficiency, 307030 GLYCEROL KINASE DEFICIENCY
Green Green List (high evidence)	GLB1	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)
Green Green List (high evidence)	GLDC	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
Green Green List (high evidence)	GLI2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Holoprosencephaly-9, 610829 GLI2-RELATED HOLOPROSENCEPHALY
Green Green List (high evidence)	GLI3	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Greig cephalopolysyndactyly syndrome, 175700Pallister-Hall syndrome, 146510Polydactyly, preaxial, type IV, 174700Polydactyly, postaxial, types A1 and B, 174200{Hypothalamic hamartomas, somatic}, 241800 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
Green Green List (high evidence)	GLUL	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY (CSGD)
Green Green List (high evidence)	GLYCTK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes D-glyceric aciduria 220120 Tags treatable
Green Green List (high evidence)	GM2A	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes GM2-gangliosidosis, AB variant, 272750 GM2-GANGLIOSIDOSIS TYPE AB (GM2GAB)
Green Green List (high evidence)	GMPPA	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION
Green Green List (high evidence)	GNAO1	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
Green Green List (high evidence)	GNAS	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Pseudohypoparathyroidism Ia, 103580McCune-Albright syndrome, 174800Pseudohypoparathyroidism Ic, 612462Osseous heteroplasia, progressive, 166350Pseudohypoparathyroidism Ib, 603233Prolonged bleeding time, brachydactyly and mental retardationAcromegaly, 102200Pseudopseudohypoparathyroidism, 612463Prolonged bleeding time, brachydactyly, and mental retardationACTH-independent macronodular adrenal hyperplasia, 219080 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (AIMAH) Tags mosaicism
Green Green List (high evidence)	GNB1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Intellectual disability developmental delay Global developmental delay
Green Green List (high evidence)	GNPAT	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Chondrodysplasia punctata, rhizomelic, type 2, 222765 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 (RCDP2)
Green Green List (high evidence)	GNPTAB	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MUCOLIPIDOSIS TYPE II (MLII)
Green Green List (high evidence)	GNPTG	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C (MLIIIC)
Green Green List (high evidence)	GNS	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mucopolysaccharidosis type IIID, 252940 MUCOPOLYSACCHARIDOSIS TYPE 3D (MPS3D)
Green Green List (high evidence)	GPC3	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 Simpson-Golabi-Behmel syndrome, type 1, 312870Wilms tumor, somatic, 194070 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
Green Green List (high evidence)	GPSM2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes DEAFNESS AUTOSOMAL RECESSIVE TYPE 82
Green Green List (high evidence)	GRIA2	5 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Epileptic encephalopathy intellectual disability stereotypic hand movements Tags watchlist
Green Green List (high evidence)	GRIA3	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 94, 300699 MENTAL RETARDATION X-LINKED TYPE 94 (MRX94)
Green Green List (high evidence)	GRIK2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal recessive, 6, 611092 MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6 (MRT6)
Green Green List (high evidence)	GRIN1	5 reviews 1 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820 NDHMSR Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 NDHMSD Mental retardation, autosomal dominant 8, 614254 EPILEPTIC ENCEPHALOPATHY
Green Green List (high evidence)	GRIN2A	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Epilepsy with neurodevelopmental defects, 613971 EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS
Green Green List (high evidence)	GRIN2B	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Mental Retardation, Dominant Mental retardation, autosomal dominant 6, 613970 AUTISM
Green Green List (high evidence)	GRM1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spinocerebellar ataxia, autosomal recessive 13, 614831 CONGENITAL CEREBELLAR ATAXIA
Green Green List (high evidence)	GSPT2	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes XL INTELLECTUAL DISABILITY
Green Green List (high evidence)	GTF2H5	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
Green Green List (high evidence)	GTPBP3	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY
Green Green List (high evidence)	GUSB	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mucopolysaccharidosis VII, 253220 MUCOPOLYSACCHARIDOSIS TYPE 7 (MPS7)
Green Green List (high evidence)	HADH	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY
Green Green List (high evidence)	HADHA	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY
Green Green List (high evidence)	HCCS	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 Microphthalmia, syndromic 7, 309801 MICROPHTHALMIA SYNDROMIC TYPE 7 (MCOPS7)
Green Green List (high evidence)	HCFC1	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
Green Green List (high evidence)	HCN1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 EIEE24
Green Green List (high evidence)	HDAC4	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Brachydactyly-mental retardation syndrome, 600430 BRACHYDACTYLY-MENTAL RETARDATION SYNDROME (BDMR)
Green Green List (high evidence)	HDAC8	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 Wilson-Turner syndrome, 309585Cornelia de Lange syndrome 5, 300882 CORNELIA DE LANGE-LIKE SYNDROME
Green Green List (high evidence)	HERC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Macrocephaly, dysmorphic facies, and psychomotor retardation 617011
Green Green List (high evidence)	HESX1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Septooptic dysplasia, 182230Pituitary hormone deficiency, combined, 5, 182230Growth hormone deficiency with pituitary anomalies, 182230 HESX1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY
Green Green List (high evidence)	HEXA	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Tay-Sachs disease, 272800GM2-gangliosidosis, several forms, 272800[Hex A pseudodeficiency], 272800 GM2-GANGLIOSIDOSIS TYPE 1 (GM2G1)
Green Green List (high evidence)	HEXB	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, 268800 GM2-GANGLIOSIDOSIS TYPE 2 (GM2G2)
Green Green List (high evidence)	HGSNAT	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 3C (MPS3C)
Green Green List (high evidence)	HIBCH	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HIBCH DEFICIENCY
Green Green List (high evidence)	HIST1H1E	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes Rahman syndrome, 617537 mild to severe intellectual disability
Green Green List (high evidence)	HLCS	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
Green Green List (high evidence)	HMGCL	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
Green Green List (high evidence)	HNRNPU	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotypeDevelopmental delay and intellectual disability (King (2014) Genome Res 24, 673)Infantile spasms (Du (2014) BMC Med Genet 15, 62)Speech delay, seizures & CNS anomalies (Caliebe (2010) Eur J Med Genet 53, 179)Seizures (Ballif (2012) Hum Genet 131, 145)Epileptic encephalopathy (Mefford (2011) Ann Neurol 70, 974)Intellectual disability & seizures (Thierry (2012) Am J Med Genet A 158A, 1633)Thin corpus callosum, psychomotor delay & seizures (Selmer (2012) Eur J Med Genet 55,715) EPILEPTIC ENCEPHALOPATHY
Green Green List (high evidence)	HOXA1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bosley-Salih-Alorainy syndrome, 601536Athabaskan brainstem dysgenesis syndrome, 601536 BOSLEY-SALIH-ALORAINY SYNDROME (BSAS)
Green Green List (high evidence)	HPD	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Tyrosinemia, type III, 276710Hawkinsinuria, 140350 HAWKINSINURIA (HAWK)
Green Green List (high evidence)	HPRT1	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 Lesch-Nyhan syndrome, 300322HPRT-related gout, 300323 GOUT HPRT-RELATED (GOUT-HPRT)
Green Green List (high evidence)	HRAS	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources 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
Green Green List (high evidence)	HSD17B10	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes 17-beta-hydroxysteroid dehydrogenase X deficiency, 300438Mental retardation, X-linked syndromic 10, 300220Mental retardation, X-linked 17/31, microduplication, 300705 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY (MHBD DEFICIENCY)
Green Green List (high evidence)	HSD17B4	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PERRAULT SYNDROME
Green Green List (high evidence)	HSPD1	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 13, autosomal dominant, 605280Leukodystrophy, hypomyelinating, 4, 612233 SPASTIC PARAPLEGIA AUTOSOMAL DOMINANT TYPE 13
Green Green List (high evidence)	HTRA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes 3-methylglutaconic aciduria, type VIII 617248
Green Green List (high evidence)	HUWE1	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 syndromic, Turner type, 300706 MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE (MRXST)
Green Green List (high evidence)	HYLS1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HYDROLETHALUS SYNDROME TYPE 1 (HLS1)
Green Green List (high evidence)	IDH2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes D-2-hydroxyglutaric aciduria 2 613657
Green Green List (high evidence)	IDS	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mucopolysaccharidosis II, 309900 MUCOPOLYSACCHARIDOSIS TYPE 2 (MPS2)
Green Green List (high evidence)	IDUA	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)
Green Green List (high evidence)	IFIH1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes AICARDI-GOUTIERES SYNDROME 7
Green Green List (high evidence)	IFT172	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MAINZER-SALDINO SYNDROME
Green Green List (high evidence)	IGF1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 INSULIN-LIKE GROWTH FACTOR I DEFICIENCY (IGF1 DEFICIENCY)
Green Green List (high evidence)	IKBKG	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, type II, 308300Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301Immunodeficiency, isolated, 300584{Atypical mycobacteriosis, familial}, 300636Invasive pneumococcal disease, recurrent isolated, 2, 300640 INCONTINENTIA PIGMENTI (IP)
Green Green List (high evidence)	IL1RAPL1	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Expert Review Green Phenotypes Mental Retardation, X-linked Mental retardation, X-linked 21/34, 300143 MENTAL RETARDATION X-LINKED TYPE 21 (MRX21)
Green Green List (high evidence)	INPP5E	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)
Green Green List (high evidence)	INPP5K	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
Green Green List (high evidence)	IQSEC2	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Expert Review Green Phenotypes Mental retardation, X-linked 1, 309530 non-syndromic X-linked intellectual disability Rett like phenotype in males MENTAL RETARDATION X-LINKED TYPE 1 (MRX1)
Green Green List (high evidence)	IRX5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY
Green Green List (high evidence)	ISPD	3 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
Green Green List (high evidence)	IVD	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ISOVALERIC ACIDEMIA
Green Green List (high evidence)	JAM3	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
Green Green List (high evidence)	KANSL1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Koolen-De Vries syndrome, 610443 Intellectual Disability Syndrome CHROMOSOME 17Q21.31 MICRODELETION SYNDROME
Green Green List (high evidence)	KAT6A	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
Green Green List (high evidence)	KAT6B	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
Green Green List (high evidence)	KCNA2	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY.
Green Green List (high evidence)	KCNB1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
Green Green List (high evidence)	KCNC1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes EPILEPSY, PROGRESSIVE MYOCLONIC 7
Green Green List (high evidence)	KCNC3	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes SPINOCEREBELLAR ATAXIA TYPE 13 (SCA13)
Green Green List (high evidence)	KCNH1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes TEMPLE BARRAISTER SYNDROME
Green Green List (high evidence)	KCNJ10	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources 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)
Green Green List (high evidence)	KCNJ11	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources 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
Green Green List (high evidence)	KCNK9	4 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Radboud University Medical Center, Nijmegen Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Birk-Barel mental retardation dysmorphism syndrome 612292
Green Green List (high evidence)	KCNQ2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Seizures, benign neonatal, 1, 121200Myokymia, 121200Epileptic encephalopathy, early infantile, 7, 613720 BENIGN NEONATAL EPILEPSY TYPE 1 (EBN1)
Green Green List (high evidence)	KCNT1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 14, 614959Epilepsy, nocturnal frontal lobe, 5, 615005 MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY
Green Green List (high evidence)	KCTD7	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 NEURONAL CEROID LIPOFUSCINOSIS
Green Green List (high evidence)	KDM5B	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes neurodevelopment delay and autism spectrum disorder
Green Green List (high evidence)	KDM5C	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, syndromic, Claes-Jensen type, 300534 -3 MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED (MRXSJ)
Green Green List (high evidence)	KDM6A	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 Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Kabuki syndrome 2, 300867 Kabuki syndrome KABUKI SYNDROME 2 KABUK2
Green Green List (high evidence)	KIF11	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources 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
Green Green List (high evidence)	KIF1A	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Mental Retardation, Dominant Spastic paraplegia 30, autosomal recessive, 610357Neuropathy, hereditary sensory, type IIC, 614213Mental retardation, autosomal dominant 9, 614255 MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
Green Green List (high evidence)	KIF5C	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 CDCBM2
Green Green List (high evidence)	KIF7	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hydrolethalus syndrome 2, 614120Acrocallosal syndrome, 200990Joubert syndrome 12, 200990 ACROCALLOSAL SYNDROME
Green Green List (high evidence)	KMT2A	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes WSS
Green Green List (high evidence)	KMT2D	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing Phenotypes Kabuki syndrome
Green Green List (high evidence)	KPTN	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES
Green Green List (high evidence)	KRAS	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources 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)
Green Green List (high evidence)	L1CAM	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 Hydrocephalus due to aqueductal stenosis, 307000MASA syndrome, 303350CRASH syndrome, 303350Hydrocephalus with Hirschsprung disease, 307000Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000Corpus callosum, partial agenesis of, 304100 MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME (MASA)
Green Green List (high evidence)	L2HGDH	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)
Green Green List (high evidence)	LAMA1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY
Green Green List (high evidence)	LAMA2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources 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
Green Green List (high evidence)	LAMB1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes COBBLESTONE BRAIN MALFORMATION WITHOUT MUSCULAR OR OCULAR ABNORMALITIES
Green Green List (high evidence)	LAMC3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Cortical malformations, occipital, 614115 OCCIPITAL CORTICAL MALFORMATIONS
Green Green List (high evidence)	LAMP2	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 Danon disease, 300257 DANON DISEASE (DAND)
Green Green List (high evidence)	LARP7	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Alazami syndrome, 615071 ALAZAMI SYNDROME
Green Green List (high evidence)	LGI4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Arthrogryposis Multiplex Congenita Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 AMCNMY Intellectual disability Global developmental delay
Green Green List (high evidence)	LIG4	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450 LIG4 SYNDROME
Green Green List (high evidence)	LRP2	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Donnai-Barrow syndrome, 222448 INTELLECTUAL DISABILITY
Green Green List (high evidence)	LRPPRC	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
Green Green List (high evidence)	MAB21L2	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MICROPHTHALMIA, SYNDROMIC 14 MCOPS14
Green Green List (high evidence)	MAF	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
Green Green List (high evidence)	MAGEL2	6 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Phenotypes PRADER WILLI SYNDROME
Green Green List (high evidence)	MAN1B1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources 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
Green Green List (high evidence)	MAN2B1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mannosidosis, alpha-, types I and II, 248500 LYSOSOMAL ALPHA-MANNOSIDOSIS (AM)
Green Green List (high evidence)	MANBA	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mannosidosis, beta, 248510 LYSOSOMAL BETA-MANNOSIDOSIS (LYSBMAN)
Green Green List (high evidence)	MAOA	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 Brunner syndrome, 300615 BRUNNER SYNDROME (BRUNS)
Green Green List (high evidence)	MAP2K1	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)
Green Green List (high evidence)	MAP2K2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cardiofaciocutaneous syndrome 4, 615280 CARDIOFACIOCUTANEOUS SYNDROME (CFC SYNDROME)
Green Green List (high evidence)	MASP1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3MC SYNDROME 1 3MC1
Green Green List (high evidence)	MAT1A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/IIIdeficiency, 250850Methionine adenosyltransferase deficiency, autosomal recessive, 250850 METHIONINE ADENOSYLTRANSFERASE DEFICIENCY
Green Green List (high evidence)	MBD5	2 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 Mental Retardation, Dominant Autosomal Dominant Mental Retardation syndrome type 1 Mental retardation, autosomal dominant 1, 156200 EHMT1-LIKE INTELLECTUAL DISABILITY
Green Green List (high evidence)	MCCC1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY
Green Green List (high evidence)	MCCC2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY
Green Green List (high evidence)	MCOLN1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mucolipidosis IV, 252650 MUCOLIPIDOSIS IV
Green Green List (high evidence)	MCPH1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes genetic heterogeneity Microcephaly 1, primary, autosomal recessive, 251200 MICROCEPHALY PRIMARY TYPE 1 (MCPH1)
Green Green List (high evidence)	MECP2	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 Rett syndrome, 312750Mental retardation, X-linked, syndromic 13, 300055Rett syndrome, preserved speech variant, 312750Encephalopathy, neonatal severe, 300673{Autism susceptibility, X-linked 3}, 300496Angelman syndrome, 105830Mental retardation, X-linked syndromic, Lubs type, 300260 RETT SYNDROME (RTT)[
Green Green List (high evidence)	MED12	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 Opitz-Kaveggia syndrome, 305450 Lujan-Fryns syndrome, 309520 Ohdo syndrome, X-linked, 300895 OPITZ-KAVEGGIA SYNDROME (OKS)
Green Green List (high evidence)	MED13L	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes INTELLECTUAL DISABILITY
Green Green List (high evidence)	MED17	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources 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
Green Green List (high evidence)	MEF2C	4 reviews 3 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 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 MRSME Chromosome 5q14.3 deletion syndrome, 613443
Green Green List (high evidence)	MFF	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
Green Green List (high evidence)	MFSD8	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS
Green Green List (high evidence)	MGAT2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Congenital disorder of glycosylation, type IIa, 212066 CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A (CDG2A)
Green Green List (high evidence)	MGP	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes KEUTEL SYNDROME
Green Green List (high evidence)	MICU1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MYOPATHY WITH EXTRAPYRAMIDAL SIGNS
Green Green List (high evidence)	MID1	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 Opitz GBBB syndrome, type I, 300000 OPITZ G/BBB SYNDROME, X-LINKED
Green Green List (high evidence)	MKKS	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes McKusick-Kaufman syndrome, 236700Bardet-Biedl syndrome 6, 209900 MCKUSICK-KAUFMAN SYNDROME (MKKS)
Green Green List (high evidence)	MKS1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MECKEL SYNDROME TYPE 1 (MKS1)
Green Green List (high evidence)	MLC1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS (MLC)
Green Green List (high evidence)	MLYCD	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Malonyl-CoA decarboxylase deficiency, 248360 MALONYL-COA DECARBOXYLASE DEFICIENCY
Green Green List (high evidence)	MMAA	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Methylmalonic aciduria, vitamin B12-responsive, 251100 METHYLMALONIC ACIDURIA TYPE CBLA
Green Green List (high evidence)	MMAB	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes METHYLMALONIC ACIDURIA TYPE CBLB
Green Green List (high evidence)	MMACHC	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
Green Green List (high evidence)	MMADHC	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources 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)
Green Green List (high evidence)	MOCS1	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
Green Green List (high evidence)	MOCS2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Molybdenum cofactor deficiency, type B, 252150 MOLYBDENUM COFACTOR DEFICIENCY
Green Green List (high evidence)	MOGS	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIb, 606056
Green Green List (high evidence)	MPDU1	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
Green Green List (high evidence)	MPI	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION
Green Green List (high evidence)	MPLKIP	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
Green Green List (high evidence)	MRPS22	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
Green Green List (high evidence)	MSMO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834
Green Green List (high evidence)	MTHFR	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY (MTHFRD)
Green Green List (high evidence)	MTOR	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Smith-Kingsmore syndrome, 616638 Intellectual Disability Focal cortical dysplasia, type II, somatic 607341 Tags mosaicism missense somatic
Green Green List (high evidence)	MTR	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources 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)
Green Green List (high evidence)	MTRR	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
Green Green List (high evidence)	MUT	3 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
Green Green List (high evidence)	MVK	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Mevalonic aciduria
Green Green List (high evidence)	MYCN	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Feingold syndrome, 164280 FEINGOLD SYNDROME TYPE 1
Green Green List (high evidence)	MYO5A	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Griscelli syndrome, type 1, 214450 ELEJALDE SYNDROME (ELEJAS)
Green Green List (high evidence)	MYT1L	5 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Mental retardation, autosomal dominant 39, 616521 MRD39 Intellectual disability obesity
Green Green List (high evidence)	NAA10	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 N-terminal acetyltransferase deficiency, 300855 NONPECIFIC SEVERE ID
Green Green List (high evidence)	NACC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 profound developmental delay Tags missense
Green Green List (high evidence)	NAGA	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Schindler disease, type I, 609241Kanzaki disease, 609242Schindler disease, type III, 609241 KANZAKI DISEASE (KANZD)
Green Green List (high evidence)	NAGLU	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)
Green Green List (high evidence)	NALCN	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes ?Neuroaxonal neurodegeneration, infantile, with facial dysmophism, 615419 CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
Green Green List (high evidence)	NANS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442
Green Green List (high evidence)	NDE1	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)
Green Green List (high evidence)	NDP	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 Norrie disease, 310600Exudative vitreoretinopathy, X-linked, 305390 NORRIE DISEASE
Green Green List (high evidence)	NDUFA1	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 Mitochondrial complex I deficiency, 252010 MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY (NUCLEAR GENES)
Green Green List (high evidence)	NDUFS1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex I deficiency, 252010 LEIGH SYNDROME (NUCLEAR DNA MUTATION)
Green Green List (high evidence)	NDUFS4	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)
Green Green List (high evidence)	NDUFS7	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)
Green Green List (high evidence)	NDUFS8	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)
Green Green List (high evidence)	NDUFV1	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
Green Green List (high evidence)	NEU1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Sialidosis, type I, 256550Sialidosis, type II, 256550 SIALIDOSIS (SIALIDOSIS)
Green Green List (high evidence)	NF1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources 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)
Green Green List (high evidence)	NFIX	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes SOTOS-LIKE SYNDROME
Green Green List (high evidence)	NFU1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
Green Green List (high evidence)	NGLY1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CONGENITAL DISORDER OF DEGLYCOSYLATION CDDG
Green Green List (high evidence)	NHS	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 Nance-Horan syndrome, 302350Cataract 40, X-linked, 302200 NANCE-HORAN SYNDROME (NHS)
Green Green List (high evidence)	NIPBL	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Radboud University Medical Center, Nijmegen Expert Review Green Phenotypes Cornelia de Lange syndrome 1, 122470 CORNELIA DE LANGE SYNDROME TYPE 1 (CDLS1)
Green Green List (high evidence)	NKX2-1	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
Green Green List (high evidence)	NLGN3	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Emory Genetics Laboratory Phenotypes AUTISM SPECTRUM DISORDERS
Green Green List (high evidence)	NONO	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 Expert Review Green 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
Green Green List (high evidence)	NPC1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes NIEMANN-PICK DISEASE, TYPE C1
Green Green List (high evidence)	NPC2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes NIEMANN-PICK DISEASE, TYPE C2
Green Green List (high evidence)	NPHP1	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)
Green Green List (high evidence)	NR2F1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME
Green Green List (high evidence)	NRAS	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
Green Green List (high evidence)	NRXN1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Pitt-Hopkins-like syndrome 2, 614325{Schizophrenia, susceptibility to, 17}, 614332 AUTISM
Green Green List (high evidence)	NRXN2	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes AUTISM
Green Green List (high evidence)	NSD1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Sotos syndrome 1, 117550Leukemia, acute myeloid, 601626 (1)Beckwith-Wiedemann syndrome, 130650 WEAVER SYNDROME (WES)
Green Green List (high evidence)	NSDHL	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 CHILD syndrome, 308050CK syndrome, 300831 CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (CHILD)
Green Green List (high evidence)	NSUN2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources 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
Green Green List (high evidence)	NT5C2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Phenotypes Spastic paraplegia 45, autosomal recessive, 613162 Intellectual disability
Green Green List (high evidence)	NUBPL	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY
Green Green List (high evidence)	OCLN	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
Green Green List (high evidence)	OCRL	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 Lowe syndrome, 309000Dent disease 2, 300555 LOWE OCULOCEREBRORENAL SYNDROME (OCRL)
Green Green List (high evidence)	OFD1	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 Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Oral-facial-digital syndrome 1, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209Joubert syndrome 10, 300804 ORAL-FACIAL-DIGITAL SYNDROME TYPE 1 (OFD1)
Green Green List (high evidence)	OGT	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
Green Green List (high evidence)	OPHN1	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, with cerebellar hypoplasia and distinctive facial appearance, 300486 MENTAL RETARDATION X-LINKED OPHN1-RELATED (MRXSO)
Green Green List (high evidence)	ORC1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Meier-Gorlin syndrome 1, 224690 MEIER-GORLIN SYNDROME 1
Green Green List (high evidence)	ORC4	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MEIER-GORLIN SYNDROME 2
Green Green List (high evidence)	ORC6	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MEIER-GORLIN SYNDROME 3
Green Green List (high evidence)	OSGEP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galloway-Mowat syndrome 3 617729
Green Green List (high evidence)	OTC	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes CGD Ornithine transcarbamylase deficiency, 311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY Tags gene-therapy-trial
Green Green List (high evidence)	OTUD6B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452
Green Green List (high evidence)	OTX2	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes MICROPHTHALMIA SYNDROMIC TYPE 5 (MCOPS5)
Green Green List (high evidence)	PACS1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal dominant 17, 615009 INTELLECTUAL DISABILITY
Green Green List (high evidence)	PAFAH1B1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Emory Genetics Laboratory Phenotypes PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia LISSENCEPHALY TYPE 1 (LIS1)
Green Green List (high evidence)	PAH	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Phenylketonuria, 261600[Hyperphenylalaninemia, non-PKU mild], 261600 NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA (NON-PKU HPA)
Green Green List (high evidence)	PAK3	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 Illumina TruGenome Clinical Sequencing Services Phenotypes Mental retardation, X-linked 30/47, 300558 Mental Retardation, X-linked AGENESIS OF THE CORPUS CALLOSUM
Green Green List (high evidence)	PAX6	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green 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)
Green Green List (high evidence)	PAX8	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)
Green Green List (high evidence)	PC	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Pyruvate carboxylase deficiency, 266150 PYRUVATE CARBOXYLASE DEFICIENCY (PC DEFICIENCY)
Green Green List (high evidence)	PCCA	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PROPIONIC ACIDEMIA
Green Green List (high evidence)	PCCB	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PROPIONIC ACIDEMIA
Green Green List (high evidence)	PCDH19	5 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Epileptic encephalopathy, early infantile, 9, 300088 EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9 (EIEE9) Tags mosaicism x-linked-over-dominance somatic
Green Green List (high evidence)	PCGF2	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes INTELLECTUAL DUSBILITY
Green Green List (high evidence)	PCNT	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Microcephalic osteodysplastic primordial dwarfism, type II, 210720 -3 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
Green Green List (high evidence)	PDHA1	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
Green Green List (high evidence)	PDSS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Coenzyme Q10 deficiency, primary, 2, 614651 COENZYME Q10 DEFICIENCY, PRIMARY, 2
Green Green List (high evidence)	PDSS2	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
Green Green List (high evidence)	PEPD	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Prolidase deficiency, 170100 PROLIDASE DEFICIENCY (PD)
Green Green List (high evidence)	PEX1	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)
Green Green List (high evidence)	PEX10	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)
Green Green List (high evidence)	PEX12	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)
Green Green List (high evidence)	PEX13	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)
Green Green List (high evidence)	PEX14	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ZELLWEGER SYNDROME (ZWS)
Green Green List (high evidence)	PEX16	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)
Green Green List (high evidence)	PEX19	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)
Green Green List (high evidence)	PEX2	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)
Green Green List (high evidence)	PEX26	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)
Green Green List (high evidence)	PEX3	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)
Green Green List (high evidence)	PEX5	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)
Green Green List (high evidence)	PEX6	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), 614862Peroxisome biogenesis disorder 4B, 614863 ZELLWEGER SYNDROME (ZWS)
Green Green List (high evidence)	PEX7	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Rhizomelic chondrodysplasia punctata, type 1, 215100 Peroxisome biogenesis disorder 9B, 614879 REFSUM DISEASE (RD)
Green Green List (high evidence)	PGAP2	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
Green Green List (high evidence)	PGAP3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
Green Green List (high evidence)	PGK1	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 Phosphoglycerate kinase 1 deficiency, 300653 PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (PGK1D)
Green Green List (high evidence)	PHF6	5 reviews 4 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Borjeson-Forssman-Lehmann syndrome, 301900 BOERJESON-FORSSMAN-LEHMANN SYNDROME (BFLS)
Green Green List (high evidence)	PHF8	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

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