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
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