1. Panels
  2. Intellectual_disability
This Panel is marked as Internal

Intellectual_disability (Version 0.1180)

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders

Previous code: 56165ccc22c1fc212900fbe2
Description
Intellectual disability panel with the addition of known and candidate genes from Grozeva et al, 2015 (PMID: 26350204).
Panel Activity

3 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

889 Entities

22 reviewed, 102 green

List Entity Reviews Mode of inheritance Details
889 Entitiess
Green List (high evidence)
ABCD1
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Adrenoleukodystrophy, 300100
  • Adrenomyeloneuropathy, adult, 300100
  • Intellectual disability
Tags
Green List (high evidence)
ACSL4
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, X-linked 63, 300387
  • Intellectual disability
Tags
Green List (high evidence)
AFF2
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mental retardation, X-linked, FRAXE type, 309548
  • FRAXE Syndrome
  • Intellectual disability
Tags
  • nucleotide-repeat-expansion
Green List (high evidence)
AGA
0 reviews
 Not set
Sources
  • Emory Genetics Laboratory
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Aspartylglucosaminuria, 208400
  • Intellectual disability
Tags
Green List (high evidence)
AP1S2
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, X-linked syndromic, Fried type, 300630
  • Intellectual disability
Tags
Green List (high evidence)
ARHGEF6
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, X-linked 46, 300436
  • Mental Retardation, X-linked
  • Intellectual disability
Tags
Green List (high evidence)
ARHGEF9
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epileptic encephalopathy, early infantile, 8, 300607
  • Intellectual disability
Tags
Green List (high evidence)
ARX
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
  • Intellectual disability
Tags
  • nucleotide-repeat-expansion
Green List (high evidence)
ATP7A
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Menkes disease, 309400Occipital horn syndrome, 304150Spinal muscular atrophy, distal, X-linked 3, 300489
  • Intellectual disability
Tags
Green List (high evidence)
ATRX
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alpha-thalassemia/mental retardation syndrome, 301040Alpha-thalassemia myelodysplasia syndrome, somatic, 300448Mental retardation-hypotonic facies syndrome, X-linked, 309580
  • Intellectual disability
Tags
Green List (high evidence)
BCOR
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, syndromic 2, 300166
  • Intellectual disability
Tags
Green List (high evidence)
BRWD3
0 reviews
 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
  • Illumina TruGenome Clinical Sequencing Services
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental Retardation, X-linked
  • Mental retardation, X-linked 93, 300659
  • Intellectual disability
Tags
Green List (high evidence)
CASK
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749FG syndrome 4, 300422Mental retardation, with or without nystagmus, 300422
  • Intellectual disability
Tags
Green List (high evidence)
CDKL5
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epileptic encephalopathy, early infantile, 2, 300672Angelman syndrome-like, 105830
  • Intellectual disability
Tags
Green List (high evidence)
CLIC2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, X-linked, syndromic 32, 300886
  • Intellectual disability
Tags
Green List (high evidence)
CNTNAP2
0 reviews
 Not set
Sources
  • Emory Genetics Laboratory
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cortical dysplasia-focal epilepsy syndrome, 610042{Autism susceptibility 15}, 612100Pitt-Hopkins like syndrome 1, 610042
  • Intellectual disability
Tags
Green List (high evidence)
CUL4B
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354
  • Intellectual disability
Tags
Green List (high evidence)
DCX
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lissencephaly, X-linked, 300067Subcortical laminal heteropia, X-linked, 300067
  • Intellectual disability
Tags
Green List (high evidence)
DKC1
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dyskeratosis congenita, X-linked, 305000
  • Intellectual disability
Tags
Green List (high evidence)
DLG3
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, X-linked 90, 300850
  • Intellectual disability
Tags
Green List (high evidence)
DMD
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Duchenne muscular dystrophy, 310200Becker muscular dystrophy, 300376Cardiomyopathy, dilated, 3B, 302045
  • Intellectual disability
Tags
Green List (high evidence)
DYNC1H1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental Retardation, Dominant
  • Charcot-Marie-Tooth disease, axonal, type 20, 614228Mental retardation, autosomal dominant 13, 614563Spinal muscular atrophy, lower extremity-predominant, AD, 158600
  • Intellectual disability
Tags
Green List (high evidence)
EHMT1
0 reviews
 Not set
Sources
  • Emory Genetics Laboratory
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Kleefstra syndrome, 610253
  • Intellectual disability
Tags
Green List (high evidence)
FGD1
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Aarskog-Scott syndrome, 305400Mental retardation, X-linked syndromic 16, 305400
  • Intellectual disability
Tags
Green List (high evidence)
FLNA
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Frontometaphyseal dysplasia, 305620Heterotopia, periventricular, ED variant, 300537FG syndrome 2, 300321Cardiac valvular dysplasia, X-linked, 314400Terminal osseous dysplasia, 300244Congenital short bowel syndrome, 300048
  • Intellectual disability
Tags
Green List (high evidence)
FMR1
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fragile X syndrome, 300624Fragile X tremor/ataxia syndrome, 300623Premature ovarian failure 1, 311360
  • Intellectual disability
Tags
Green List (high evidence)
FOXP1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation with language impairment and autistic features, 613670
  • Mental Retardation with Language Impairment and Autistic Features
  • Intellectual disability
Tags
Green List (high evidence)
FTSJ1
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, X-linked 9, 309549
  • Intellectual disability
Tags
Green List (high evidence)
GDI1
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, X-linked 41, 300849
  • Intellectual disability
Tags
Green List (high evidence)
GK
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Glycerol kinase deficiency, 307030
  • Intellectual disability
Tags
Green List (high evidence)
GPC3
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Simpson-Golabi-Behmel syndrome, type 1, 312870Wilms tumor, somatic, 194070
  • Intellectual disability
Tags
Green List (high evidence)
GRIA3
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, X-linked 94, 300699
  • Intellectual disability
Tags
Green List (high evidence)
GRIN2B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental Retardation, Dominant
  • Mental retardation, autosomal dominant 6, 613970
  • Intellectual disability
Tags
Green List (high evidence)
HCCS
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, syndromic 7, 309801
  • Intellectual disability
Tags
Green List (high evidence)
HCFC1
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, X-linked 3, 309541
  • Intellectual disability
Tags
Green List (high evidence)
HPRT1
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lesch-Nyhan syndrome, 300322HPRT-related gout, 300323
  • Intellectual disability
Tags
Green List (high evidence)
HSD17B10
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • 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
  • Intellectual disability
Tags
Green List (high evidence)
HUWE1
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, X-linked syndromic, Turner type, 300706
  • Intellectual disability
Tags
Green List (high evidence)
IDS
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis II, 309900
  • Intellectual disability
Tags
Green List (high evidence)
IL1RAPL1
0 reviews
 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
  • Illumina TruGenome Clinical Sequencing Services
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental Retardation, X-linked
  • Mental retardation, X-linked 21/34, 300143
  • Intellectual disability
Tags
Green List (high evidence)
IQSEC2
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, X-linked 1, 309530
  • Intellectual disability
Tags
Green List (high evidence)
KANSL1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Koolen-De Vries syndrome, 610443
  • Intellectual Disability Syndrome
  • Intellectual disability
Tags
Green List (high evidence)
KCNJ10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, andElectrolyte Imbalance Syndrome
  • SESAME syndrome, 612780Enlarged vestibular aqueduct, digenic, 600791
Tags
Green List (high evidence)
KDM5C
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 -3
  • Intellectual disability
Tags
Green List (high evidence)
KIF1A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental Retardation, Dominant
  • Spastic paraplegia 30, autosomal recessive, 610357Neuropathy, hereditary sensory, type IIC, 614213Mental retardation, autosomal dominant 9, 614255
  • Intellectual disability
Tags
Green List (high evidence)
L1CAM
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
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
  • Intellectual disability
Tags
Green List (high evidence)
LAMP2
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Danon disease, 300257
  • Intellectual disability
Tags
Green List (high evidence)
MAN1B1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental Retardation, Recessive
  • Mental retardation, autosomal recessive 15, 614202
  • Intellectual disability
Tags
Green List (high evidence)
MAOA
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Brunner syndrome, 300615
  • Intellectual disability
Tags
Green List (high evidence)
MBD5
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental Retardation, Dominant
  • Autosomal Dominant Mental Retardation syndrome type 1
  • Mental retardation, autosomal dominant 1, 156200
  • Intellectual disability
Tags
Green List (high evidence)
MECP2
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
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
  • Intellectual disability
Tags
Green List (high evidence)
MED12
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Opitz-Kaveggia syndrome, 305450Lujan-Fryns syndrome, 309520Ohdo syndrome, X-linked, 300895
  • Intellectual disability
Tags
Green List (high evidence)
MEF2C
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental Retardation, Stereotypic Movements, Epilepsy, and/orCerebral Malformations
  • Le Meur et al. (2010) describe six unrelated children with a deletion or mutation of the MEF2C gene (5q14). All six patients had a similar phenotype including severe intellectual disability, developmental delay, hypotonia, absent speech, and the inability to walk unaided. Variable features include stereotypic movements, epilepsy and/or cerebral malformations, and dysmorphic features. Mutation of the MEF2C gene causes autosomal dominant mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations.
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443Chromosome 5q14.3 deletion syndrome, 613443
  • Intellectual disability
Tags
Green List (high evidence)
MID1
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Opitz GBBB syndrome, type I, 300000
  • Intellectual disability
Tags
Green List (high evidence)
NAA10
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • N-terminal acetyltransferase deficiency, 300855
  • Intellectual disability
Tags
Green List (high evidence)
NDP
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Norrie disease, 310600Exudative vitreoretinopathy, X-linked, 305390
  • Intellectual disability
Tags
Green List (high evidence)
NDUFA1
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mitochondrial complex I deficiency, 252010
  • Intellectual disability
Tags
Green List (high evidence)
NHS
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nance-Horan syndrome, 302350Cataract 40, X-linked, 302200
  • Intellectual disability
Tags
Green List (high evidence)
NRXN1
0 reviews
 Not set
Sources
  • Emory Genetics Laboratory
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pitt-Hopkins-like syndrome 2, 614325{Schizophrenia, susceptibility to, 17}, 614332
  • Intellectual disability
Tags
Green List (high evidence)
NSDHL
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • CHILD syndrome, 308050CK syndrome, 300831
  • Intellectual disability
Tags
Green List (high evidence)
NSUN2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental Retardation, Recessive
  • Mental retardation, autosomal recessive 5, 611091
  • Intellectual disability
Tags
Green List (high evidence)
OCRL
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lowe syndrome, 309000Dent disease 2, 300555
  • Intellectual disability
Tags
Green List (high evidence)
OFD1
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Oral-facial-digital syndrome 1, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209Joubert syndrome 10, 300804
  • Intellectual disability
Tags
Green List (high evidence)
OPHN1
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
  • Intellectual disability
Tags
Green List (high evidence)
OTC
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • CGD Ornithine transcarbamylase deficiency, 311250
  • Intellectual disability
Tags
Green List (high evidence)
PAK3
0 reviews
 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
  • Illumina TruGenome Clinical Sequencing Services
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, X-linked 30/47, 300558
  • Mental Retardation, X-linked
  • Intellectual disability
Tags
Green List (high evidence)
PAX6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
  • 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
  • Intellectual disability
Tags
Green List (high evidence)
PCDH19
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epileptic encephalopathy, early infantile, 9, 300088
  • Intellectual disability
Tags
Green List (high evidence)
PDHA1
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pyruvate dehydrogenase E1-alpha deficiency, 312170Leigh syndrome, X-linked, 308930
  • Intellectual disability
Tags
Green List (high evidence)
PGK1
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Phosphoglycerate kinase 1 deficiency, 300653
  • Intellectual disability
Tags
Green List (high evidence)
PHF6
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Borjeson-Forssman-Lehmann syndrome, 301900
  • Intellectual disability
Tags
Green List (high evidence)
PHF8
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation syndrome, X-linked, Siderius type, 300263
  • Intellectual disability
Tags
Green List (high evidence)
PLP1
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pelizaeus-Merzbacher disease, 312080Spastic paraplegia 2, X-linked, 312920
  • Intellectual disability
Tags
Green List (high evidence)
PORCN
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Focal dermal hypoplasia, 305600
  • Intellectual disability
Tags
Green List (high evidence)
PQBP1
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renpenning syndrome, 309500
  • Intellectual disability
Tags
Green List (high evidence)
PRPS1
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Gout, PRPS-related, 300661Phosphoribosylpyrophosphate synthetase superactivity, 300661Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070Arts syndrome, 301835Deafness, X-linked 1, 304500
  • Intellectual disability
Tags
Green List (high evidence)
PRSS12
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, autosomal recessive 1, 249500
  • Mental Retardation, Recessive
  • Intellectual disability
Tags
Green List (high evidence)
RAB39B
0 reviews
 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
  • Illumina TruGenome Clinical Sequencing Services
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, X-linked 72, 300271
  • Mental Retardation, X-linked
  • Intellectual disability
Tags
Green List (high evidence)
RBM10
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • TARP syndrome, 311900
  • Intellectual disability
Tags
Green List (high evidence)
RPS6KA3
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Coffin-Lowry syndrome, 303600Mental retardation, X-linked 19, 300844
  • Intellectual disability
Tags
Green List (high evidence)
SHROOM4
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stocco dos Santos X-linked mental retardation syndrome, 300434
  • Intellectual disability
Tags
Green List (high evidence)
SLC16A2
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Allan-Herndon-Dudley syndrome, 300523
  • Intellectual disability
Tags
Green List (high evidence)
SLC9A6
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mental retardation, X-linked syndromic, Christianson type, 300243
  • Intellectual disability
Tags
Green List (high evidence)
SMS
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, X-linked, Snyder-Robinson type, 309583
  • Intellectual disability
Tags
Green List (high evidence)
SOX3
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, X-linked, with isolated growth hormone deficiency, 300123Panhypopituitarism, X-linked, 312000
  • Intellectual disability
Tags
Green List (high evidence)
SYN1
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491
  • Intellectual disability
Tags
Green List (high evidence)
SYP
0 reviews
 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
  • Illumina TruGenome Clinical Sequencing Services
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental Retardation, X-linked
  • Mental retardation, X-linked 96, 300802
  • Intellectual disability
Tags
Green List (high evidence)
TCF4
0 reviews
 Not set
Sources
  • Emory Genetics Laboratory
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pitt-Hopkins syndrome, 610954
  • Intellectual disability
Tags
Green List (high evidence)
TIMM8A
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Deafness, X-linked 1, progressiveMohr-Tranebjaerg syndrome, 304700Jensen syndrome, 311150
  • Intellectual disability
Tags
Green List (high evidence)
TRAPPC9
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, autosomal recessive 13, 613192
  • Mental Retardation, Recessive
  • Intellectual disability
Tags
Green List (high evidence)
TSPAN7
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, X-linked 58, 300210
  • Intellectual disability
Tags
Green List (high evidence)
UBE2A
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, X-linked syndromic, Nascimento-type, 300860
  • Intellectual disability
Tags
Green List (high evidence)
UBE3A
0 reviews
 Not set
Sources
  • Emory Genetics Laboratory
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Angelman syndrome, 105830
  • Intellectual disability
Tags
Green List (high evidence)
UPF3B
0 reviews
 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
  • Illumina TruGenome Clinical Sequencing Services
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental Retardation, X-linked
  • Mental retardation, X-linked, syndromic 14, 300676
  • Intellectual disability
Tags
Green List (high evidence)
VPS13B
0 reviews
 Not set
Sources
  • Emory Genetics Laboratory
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cohen syndrome, 216550
  • Intellectual disability
Tags
Green List (high evidence)
WDR62
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly, Cortical Malformations, and Mental Retardation
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317
  • Intellectual disability
Tags
Green List (high evidence)
ZDHHC9
0 reviews
 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
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, X-linked syndromic, Raymond type, 300799
  • Intellectual disability
Tags
Green List (high evidence)
ZEB2
0 reviews
 Not set
Sources
  • Emory Genetics Laboratory
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mowat-Wilson syndrome, 235730
  • Intellectual disability
Tags
Green List (high evidence)
ZNF41
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, X-linked 89, 300848
  • Mental Retardation, X-linked
  • Intellectual disability
Tags
Green List (high evidence)
ZNF674
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental Retardation, X-linked
  • Mental retardation, X-linked 92, 300851
  • Intellectual disability
Tags
Green List (high evidence)
ZNF711
0 reviews
 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
  • Illumina TruGenome Clinical Sequencing Services
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental Retardation, X-linked
  • Mental retardation, X-linked 97, 300803
  • Intellectual disability
Tags
Green List (high evidence)
ZNF81
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental Retardation, X-linked
  • Mental retardation, X-linked 45, 300498
  • Intellectual disability
Tags
Amber List (moderate evidence)
ATP6AP2
0 reviews
 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
Phenotypes
  • Mental retardation, X-linked, with epilepsy, 300423
Tags
Amber List (moderate evidence)
B3GLCT
1 review
 Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Peters-plus syndrome, 261540
Tags
Amber List (moderate evidence)
CLN8
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 8, 600143Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003
Tags
Amber List (moderate evidence)
FTO
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Growth retardation, developmental delay, coarse facies, and early death, 612938
  • Growth Retardation, Developmental Delay, Coarse Facies, andEarly Death
Tags
Amber List (moderate evidence)
IGBP1
0 reviews
 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
Phenotypes
  • Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, 300472
Tags
Amber List (moderate evidence)
KCNK9
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Birk-Barel mental retardation dysmorphism syndrome, 612292
  • Birk-Barel Mental Retardation Dysmorphism Syndrome
Tags
Amber List (moderate evidence)
LARGE1
1 review
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840
Tags
Amber List (moderate evidence)
MBTPS2
0 reviews
 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
Phenotypes
  • IFAP syndrome with or without BRESHECK syndrome, 308205
Tags
Amber List (moderate evidence)
PIGO
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 2, 614749
  • Hyperphosphatasia with Mental Retardation Syndrome
Tags
Amber List (moderate evidence)
PIGV
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 1, 239300
  • Hyperphosphatasia with Mental Retardation Syndrome
Tags
Amber List (moderate evidence)
POMGNT1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157
Tags
Amber List (moderate evidence)
POMT1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308
Tags
Amber List (moderate evidence)
POMT2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158
Tags
Amber List (moderate evidence)
SCN1A
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 2, 604403Dravet syndrome, 607208Migraine, familial hemiplegic, 3, 609634Febrile seizures, familial, 3A, 604403
Tags
Red List (low evidence)
ABCC9
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, dilated, 1O, 608569Atrial fibrillation, familial, 12, 614050Hypertrichotic osteochondrodysplasia, 239850
Tags
Red List (low evidence)
ABCD4
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblJ type, 614857
Tags
Red List (low evidence)
ABHD5
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Chanarin-Dorfman syndrome, 275630
Tags
Red List (low evidence)
ACAD9
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ACAD9 deficiency, 611126
Tags
Red List (low evidence)
ACBD6
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ACE2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ACIN1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ACOT9
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ACOX1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisomal acyl-CoA oxidase deficiency, 264470
Tags
Red List (low evidence)
ACSF3
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Combined malonic and methylmalonic aciduria, 614265
Tags
Red List (low evidence)
ACTB
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
Tags
Red List (low evidence)
ACTG1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Deafness, autosomal dominant 20/26, 604717Baraitser-Winter syndrome 2, 614583
Tags
Red List (low evidence)
ACTL6A
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ACTL6B
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ACVR1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fibrodysplasia ossificans progressiva, 135100
Tags
Red List (low evidence)
ACY1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Aminoacylase 1 deficiency, 609924
  • Intellectual disability
Tags
Red List (low evidence)
ADAR
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dyschromatosis symmetrica hereditaria, 127400Aicardi-Goutieres syndrome 6, 615010
Tags
Red List (low evidence)
ADGRG1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Polymicrogyria, bilateral frontoparietal, 606854
  • Intellectual disability
Tags
Red List (low evidence)
ADGRG4
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ADK
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Hypermethioninemia due to adenosine kinase deficiency, 614300
  • Intellectual disability
Tags
Red List (low evidence)
ADRA2B
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ADSL
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • ade(-)I bifunctional Adenylosuccinase deficiency, 103050
  • Intellectual disability
Tags
Red List (low evidence)
AGO1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
AGPAT2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lipodystrophy, congenital generalized, type 1, 608594
Tags
Red List (low evidence)
AGTR2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Mental retardation, X-linked 88, 300852
  • Intellectual disability
Tags
Red List (low evidence)
AHCY
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752
Tags
Red List (low evidence)
AHI1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Joubert syndrome-3, 608629
Tags
Red List (low evidence)
AIFM1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Combined oxidative phosphorylation deficiency 6, 300816Cowchock syndrome, 310490
Tags
Red List (low evidence)
AIMP1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Leukodystrophy, hypomyelinating, 3, 260600
  • Intellectual disability
Tags
Red List (low evidence)
AK1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to adenylate kinase deficiency, 612631
Tags
Red List (low evidence)
AKAP17A
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
  • Pseudoautosomal region 1
Red List (low evidence)
AKAP4
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
AKR1C2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, hyperphagia, and developmental delay46XY sex reversal 8, 614279
Tags
Red List (low evidence)
AKT3
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387
Tags
Red List (low evidence)
ALDH18A1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Cutis laxa, autosomal recessive, type IIIA, 219150
  • Intellectual disability
Tags
Red List (low evidence)
ALDH3A2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Sjogren-Larsson syndrome, 270200
Tags
Red List (low evidence)
ALDH4A1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Hyperprolinemia, type II, 239510
  • Intellectual disability
Tags
Red List (low evidence)
ALDH5A1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Succinic semialdehyde dehydrogenase deficiency, 271980
  • Intellectual disability
Tags
Red List (low evidence)
ALG1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Congenital disorder of glycosylation, type Ik, 608540
  • Intellectual disability
Tags
Red List (low evidence)
ALG12
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ALG13
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ALG3
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ALG6
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ALG8
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ALX1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Frontonasal dysplasia 3, 613456
Tags
Red List (low evidence)
ALX4
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parietal foramina 2, 609597Frontonasal dysplasia 2, 613451
Tags
Red List (low evidence)
AMT
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Glycine encephalopathy, 605899
Tags
Red List (low evidence)
ANK3
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ANKH
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Craniometaphyseal dysplasia, 123000Chondrocalcinosis 2, 118600
Tags
Red List (low evidence)
ANKRD11
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • KBG syndrome, 148050
Tags
Red List (low evidence)
ANO10
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 10, 613728
Tags
Red List (low evidence)
AP3B1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hermansky-Pudlak syndrome 2, 608233
Tags
Red List (low evidence)
AP4B1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Spastic paraplegia 47, autosomal recessive, 614066
  • Intellectual disability
Tags
Red List (low evidence)
AP4E1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Spastic paraplegia 51, autosomal recessive, 613744
  • Intellectual disability
Tags
Red List (low evidence)
AP4M1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Spastic paraplegia 50, autosomal recessive, 612936
  • Intellectual disability
Tags
Red List (low evidence)
AP4S1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Spastic paraplegia 52, autosomal recessive, 614067
  • Intellectual disability
Tags
Red List (low evidence)
APTX
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
Tags
Red List (low evidence)
ARFGEF2
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Periventricular heterotopia with microcephaly, 608097
  • Intellectual disability
Tags
Red List (low evidence)
ARG1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Argininemia, 207800
  • Intellectual disability
Tags
Red List (low evidence)
ARHGAP36
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ARHGAP6
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ARHGEF4
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ARID1A
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Mental retardation, autosomal dominant 14, 614607
  • Intellectual disability
Tags
Red List (low evidence)
ARID1B
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Mental retardation, autosomal dominant 12, 614562
  • Intellectual disability
Tags
Red List (low evidence)
ARID2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ARIH1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ARL13B
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Joubert syndrome 8, 612291
Tags
Red List (low evidence)
ARL14EP
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ARL6
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet-Biedl syndrome 3, 209900{Bardet-Biedl syndrome 1, modifier of}, 209900Retinitis pigmentosa 55, 613575
Tags
Red List (low evidence)
ARSF
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ASB12
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ASCC3
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ASCL1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ASH1L
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ASL
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Argininosuccinic aciduria, 207900
Tags
Red List (low evidence)
ASMT
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
  • Pseudoautosomal region 1
Red List (low evidence)
ASMTL
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
  • Pseudoautosomal region 1
Red List (low evidence)
ASPA
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Canavan disease, 271900
Tags
Red List (low evidence)
ASPM
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly 5, primary, autosomal recessive, 608716
Tags
Red List (low evidence)
ASXL1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Bohring-Opitz syndrome, 605039Myelodysplastic syndrome, somatic, 614286
  • Intellectual disability
Tags
Red List (low evidence)
ATIC
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • AICA-ribosiduria due to ATIC deficiency, 608688
Tags
Red List (low evidence)
ATM
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ATP1A2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Migraine, familial hemiplegic, 2, 602481Alternating hemiplegia of childhood, 104290Migraine, familial basilar, 602481
Tags
Red List (low evidence)
ATP2A2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Darier disease, 124200Acrokeratosis verruciformis, 101900
Tags
Red List (low evidence)
ATP2B3
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ATP6V0A2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cutis laxa, autosomal recessive, type IIA, 219200Wrinkly skin syndrome, 278250
Tags
Red List (low evidence)
ATR
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Seckel syndrome 1, 210600Cutaneous telangiectasia and cancer syndrome, familial, 614564
Tags
Red List (low evidence)
ATXN3L
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
AUH
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • 3-methylglutaconic aciduria, type I, 250950
  • Intellectual disability
Tags
Red List (low evidence)
AVPR2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
AWAT2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
B4GALT1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type IId, 607091
Tags
Red List (low evidence)
B4GALT7
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ehlers-Danlos syndrome, progeroid type, 1, 130070
Tags
Red List (low evidence)
BBS1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet-Biedl syndrome 1, 209900
Tags
Red List (low evidence)
BBS10
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet-Biedl syndrome 10, 209900
Tags
Red List (low evidence)
BBS12
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet-Biedl syndrome 12, 209900
Tags
Red List (low evidence)
BBS2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet-Biedl syndrome 2, 209900
Tags
Red List (low evidence)
BBS4
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet-Biedl syndrome 4, 209900
Tags
Red List (low evidence)
BBS5
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet-Biedl syndrome 5, 209900
Tags
Red List (low evidence)
BBS7
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet-Biedl syndrome 7, 209900
Tags
Red List (low evidence)
BBS9
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet-Biedl syndrome 9, 209900
Tags
Red List (low evidence)
BCKDHA
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Maple syrup urine disease, type Ia, 248600
Tags
Red List (low evidence)
BCKDHB
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Maple syrup urine disease, type Ib, 248600
Tags
Red List (low evidence)
BCORL1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
BCS1L
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 1, 124000
  • Leigh syndrome, 256000
  • Bjornstad syndrome, 262000
  • GRACILE syndrome, 603358
Tags
Red List (low evidence)
BDP1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
BLM
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bloom syndrome, 210900
Tags
Red List (low evidence)
BMP15
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
BRAF
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Melanoma, malignant, somaticColorectal cancer, somaticAdenocarcinoma of lung, somatic, 211980Nonsmall cell lung cancer, somaticCardiofaciocutaneous syndrome, 115150Noonan syndrome 7, 613706LEOPARD syndrome 3, 613707
  • Intellectual disability
Tags
Red List (low evidence)
BSCL2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lipodystrophy, congenital generalized, type 2, 269700Silver spastic paraplegia syndrome, 270685Neuropathy, distal hereditary motor, type V, 600794
Tags
Red List (low evidence)
BTD
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Biotinidase deficiency, 253260
Tags
Red List (low evidence)
BTK
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
BUB1B
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Colorectal cancer, somatic, 114500Mosaic variegated aneuploidy syndrome 1, 257300[Premature chromatid separation trait], 176430
Tags
Red List (low evidence)
C12orf57
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Temtamy syndrome, 218340
  • Intellectual disability
Tags
Red List (low evidence)
C5orf42
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
Tags
  • new-gene-name
Red List (low evidence)
CA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730
Tags
Red List (low evidence)
CA8
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227
  • Intellectual disability
Tags
Red List (low evidence)
CACNA1C
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Timothy syndrome, 601005Brugada syndrome 3, 611875
Tags
Red List (low evidence)
CACNA1F
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CACNA1G
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CACNG2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, autosomal dominant 10, 614256
Tags
Red List (low evidence)
CAMK2A
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CAMK2G
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CAP1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CAPN10
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CASP2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CBL
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563
Tags
Red List (low evidence)
CBS
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Homocystinuria, B6-responsive and nonresponsive types, 236200Thrombosis, hyperhomocysteinemic, 236200
Tags
Red List (low evidence)
CC2D1A
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Mental retardation, autosomal recessive 3, 608443
  • Intellectual disability
Tags
Red List (low evidence)
CC2D2A
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Joubert syndrome 9, 612285Meckel syndrome 6, 612284COACH syndrome, 216360
  • Intellectual disability
Tags
Red List (low evidence)
CCBE1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome, 235510
Tags
Red List (low evidence)
CCDC22
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CCDC78
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, centronuclear, 4, 614807
Tags
Red List (low evidence)
CCNA2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CCNB3
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CD99
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
  • Pseudoautosomal region 1
Red List (low evidence)
CDH15
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Mental retardation, autosomal dominant 3, 612580
  • Intellectual disability
Tags
Red List (low evidence)
CDK16
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CDK5RAP2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly 3, primary, autosomal recessive, 604804
Tags
Red List (low evidence)
CDK8
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CDON
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Holoprosencephaly 11, 614226
Tags
Red List (low evidence)
CENPJ
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly 6, primary, autosomal recessive, 608393Seckel syndrome 4, 613676
Tags
Red List (low evidence)
CEP135
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly 8, primary, autosomal recessive, 614673
Tags
Red List (low evidence)
CEP152
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly 9, primary, autosomal recessive, 614852Seckel syndrome 5, 613823
Tags
Red List (low evidence)
CEP290
0 reviews
 Not set
Sources
  • 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
Tags
Red List (low evidence)
CEP41
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Joubert syndrome 15, 614464
  • Intellectual disability
Tags
Red List (low evidence)
CFAP47
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CFP
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CHD2
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Epileptic encephalopathy, childhood-onset, 615369
  • Intellectual disability
Tags
Red List (low evidence)
CHD7
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • CHARGE syndrome, 214800{Scoliosis, idiopathic 3}, 608765Hypogonadotropic hypogonadism 5 with or without anosmia, 612370
  • Intellectual disability
Tags
Red List (low evidence)
CHL1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CLCN4
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CLCN5
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CLCNKB
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bartter syndrome, type 3, 607364Bartter syndrome, type 4b, digenic, 613090
Tags
Red List (low evidence)
CLN3
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 3, 204200
Tags
Red List (low evidence)
CLN5
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 5, 256731
Tags
Red List (low evidence)
CLN6
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6, 601780Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Tags
Red List (low evidence)
CMC4
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CNKSR1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CNKSR2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
COG1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type IIg, 611209
Tags
Red List (low evidence)
COG7
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type IIe, 608779
Tags
Red List (low evidence)
COG8
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type IIh, 611182
Tags
Red List (low evidence)
COL4A1
0 reviews
 Not set
Sources
  • 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
Tags
Red List (low evidence)
COL4A2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Porencephaly 2, 614483{Hemorrhage, intracerebral, susceptibility to}, 614519
Tags
Red List (low evidence)
COL4A3BP
1 review
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
  • new-gene-name
Red List (low evidence)
COL4A6
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
COLEC11
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 3MC syndrome 2, 265050
Tags
Red List (low evidence)
COQ2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1, 607426{Multiple system atrophy, susceptibility to}, 146500
Tags
Red List (low evidence)
COQ5
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
COQ8A
1 review
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Coenzyme Q10 deficiency, primary, 4, 612016
  • Intellectual disability
Tags
Red List (low evidence)
COX10
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
COX15
0 reviews
 Not set
Sources
  • 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
Tags
Red List (low evidence)
CPS1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Carbamoylphosphate synthetase I deficiency, 237300{Pulmonary hypertension, neonatal, susceptibility to}, 615371{Venoocclusive disease after bone marrow transplantation}
Tags
Red List (low evidence)
CPXCR1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CRBN
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, autosomal recessive 2, 607417
Tags
Red List (low evidence)
CREBBP
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Rubinstein-Taybi syndrome, 180849
  • Intellectual disability
Tags
Red List (low evidence)
CRLF2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
  • Pseudoautosomal region 1
Red List (low evidence)
CSF2RA
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
  • Pseudoautosomal region 1
Red List (low evidence)
CSTF2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CTDP1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital cataracts, facial dysmorphism, and neuropathy, 604168
Tags
Red List (low evidence)
CTNNB1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Mental retardation, autosomal dominant 19, 615075Colorectal cancer, somatic, 114500Pilomatricoma, somatic, 132600Ovarian cancer, somatic, 167000Hepatocellular carcinoma, somatic, 114550
  • Intellectual disability
Tags
Red List (low evidence)
CTPS2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CTSA
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Galactosialidosis, 256540
Tags
Red List (low evidence)
CTSD
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 10, 610127
  • Intellectual disability
Tags
Red List (low evidence)
CTTNBP2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CUX2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CXorf58
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
CYB5R3
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Methemoglobinemia, type I, 250800Methemoglobinemia, type II, 250800
Tags
Red List (low evidence)
CYP7B1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
D2HGDH
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • D-2-hydroxyglutaric aciduria, 600721
Tags
Red List (low evidence)
DARS2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Tags
Red List (low evidence)
DBT
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Maple syrup urine disease, type II, 248600
Tags
Red List (low evidence)
DCAF17
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Woodhouse-Sakati syndrome, 241080
Tags
Red List (low evidence)
DCHS2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
DDHD2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 54, autosomal recessive, 615033
Tags
Red List (low evidence)
DDOST
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
DDX3X
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
  • Expert Review
  • Literature
Phenotypes
  • ID, microcephaly
  • Intellectual disability
Tags
Red List (low evidence)
DDX53
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
DEAF1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
DGKH
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
DHCR24
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Desmosterolosis, 602398
Tags
Red List (low evidence)
DHCR7
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Smith-Lemli-Opitz syndrome, 270400
  • Intellectual disability
Tags
Red List (low evidence)
DHFR
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
Tags
Red List (low evidence)
DHRSX
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
  • Pseudoautosomal region 1
Red List (low evidence)
DHTKD1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 2-aminoadipic 2-oxoadipic aciduria, 204750Charcot-Marie-Tooth disease, axonal, type 2Q, 615025
Tags
Red List (low evidence)
DHX30
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
DIAPH2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
DIP2B
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, FRA12A type, 136630
Tags
Red List (low evidence)
DLD
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dihydrolipoamide dehydrogenase deficiency, 246900
Tags
Red List (low evidence)
DLG1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
DLG2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
DLG4
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
DMPK
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myotonic dystrophy 1, 160900
Tags
Red List (low evidence)
DNAJC19
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 3-methylglutaconic aciduria, type V, 610198
Tags
Red List (low evidence)
DNMT3B
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860
  • Intellectual disability
Tags
Red List (low evidence)
DOCK11
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
DOCK8
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, autosomal dominant 2, 614113Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700
Tags
Red List (low evidence)
DPAGT1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type Ij, 608093Myasthenic syndrome, congenital, with tubular aggregates 2, 614750
Tags
Red List (low evidence)
DPF1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
DPF2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
DPF3
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
DPM1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type Ie, 608799
Tags
Red List (low evidence)
DPYD
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dihydropyrimidine dehydrogenase deficiency, 2742705-fluorouracil toxicity, 274270
Tags
Red List (low evidence)
DST
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VI, 614653Epidermolysis bullosa simplex, sutosomal recessive 2, 615425
Tags
Red List (low evidence)
DYM
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dyggve-Melchior-Clausen disease, 223800Smith-McCort dysplasia, 607326
Tags
Red List (low evidence)
DYRK1A
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Mental retardation, autosomal dominant 7, 614104
  • Intellectual disability
Tags
Red List (low evidence)
EEF1A2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
EEF1B2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
EFTUD2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mandibulofacial dysostosis, Guion-Almeida type, 610536
Tags
Red List (low evidence)
EIF2AK3
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Wolcott-Rallison syndrome, 226980
Tags
Red List (low evidence)
EIF2S3
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ELK1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ELOVL4
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stargardt disease 3, 600110Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110Ichthyosis, spastic quadriplegia, and mental retardation, 614457
Tags
Red List (low evidence)
ELP2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
EMX2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Schizencephaly, 269160
Tags
Red List (low evidence)
ENOX2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ENTPD1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
EP300
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
EPB41L1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, autosomal dominant 11, 614257
Tags
Red List (low evidence)
EPPK1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ERCC2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Xeroderma pigmentosum, group D, 278730Trichothiodystrophy, 601675Cerebrooculofacioskeletal syndrome 2, 610756
Tags
Red List (low evidence)
ERCC3
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Xeroderma pigmentosum, group B, 610651Trichothiodystrophy, 601675
Tags
Red List (low evidence)
ERCC5
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Xeroderma pigmentosum, group G, 278780Xeroderma pigmentosum, group G/Cockayne syndrome, 278780
Tags
Red List (low evidence)
ERCC6
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
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
  • Intellectual disability
Tags
Red List (low evidence)
ERCC8
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cockayne syndrome, type A, 216400UV-sensitive syndrome 2, 614621
Tags
Red List (low evidence)
ERLIN2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Spastic paraplegia 18, autosomal recessive, 611225
  • Intellectual disability
Tags
Red List (low evidence)
ESCO2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Roberts syndrome, 268300SC phocomelia syndrome, 269000
Tags
Red List (low evidence)
ESX1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ETHE1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ethylmalonic encephalopathy, 602473
Tags
Red List (low evidence)
EXOSC3
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
FAAH2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
FAM120C
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
FAM126A
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leukodystrophy, hypomyelinating, 5, 610532
Tags
Red List (low evidence)
FAM47B
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
FAM58A
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
  • new-gene-name
Red List (low evidence)
FANCB
0 reviews
 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
Tags
Red List (low evidence)
FASN
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
FBN1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Marfan syndrome, 154700Ectopia lentis, familial, 129600MASS syndrome, 604308Weill-Marchesani syndrome 2, dominant, 608328Aortic aneurysm, ascending, and dissectionStiff skin syndrome, 184900Acromicric dysplasia, 102370Geleophysic dysplasia 2, 614185
Tags
Red List (low evidence)
FGFR1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pfeiffer syndrome, 101600Jackson-Weiss syndrome, 123150Hypogonadotropic hypogonadism 2 with or without anosmia, 147950Osteoglophonic dysplasia, 166250Trigonocephaly 1, 190440Hartsfield syndrome, 615465
Tags
Red List (low evidence)
FGFR2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Crouzon syndrome, 123500Jackson-Weiss syndrome, 123150Beare-Stevenson cutis gyrata syndrome, 123790Pfeiffer syndrome, 101600Apert syndrome, 101200Saethre-Chotzen syndrome, 101400Craniosynostosis, nonspecificGastric cancer, somatic, 613659Craniofacial-skeletal-dermatologic dysplasia, 101600Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410Scaphocephaly and Axenfeld-Rieger anomalyLADD syndrome, 149730Scaphocephaly, maxillary retrusion, and mental retardation, 609579Bent bone dysplasia syndrome, 614592
Tags
Red List (low evidence)
FGFR3
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Achondroplasia, 100800Hypochondroplasia, 146000Thanatophoric dysplasia, type I, 187600Crouzon syndrome with acanthosis nigricans, 612247Muenke syndrome, 602849Bladder cancer, somatic, 109800Colorectal cancer, somatic, 114500Cervical cancer, somatic, 603956LADD syndrome, 149730CATSHL syndrome, 610474Nevus, epidermal, somatic, 162900Thanatophoric dysplasia, type II, 187601Spermatocytic seminoma, somatic, 273300
Tags
Red List (low evidence)
FH
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fumarase deficiency, 606812Leiomyomatosis and renal cell cancer, 150800
Tags
Red List (low evidence)
FKBPL
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
FKRP
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
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
  • Intellectual disability
Tags
Red List (low evidence)
FKTN
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
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
  • Intellectual disability
Tags
Red List (low evidence)
FOXG1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Rett syndrome, congenital variant, 613454
  • Intellectual disability
Tags
Red List (low evidence)
FOXP2
0 reviews
 Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Speech-Language Disorder 1
Tags
Red List (low evidence)
FRAS1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fraser syndrome, 219000
Tags
Red List (low evidence)
FRMPD4
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
FRY
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
FTL
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
FUCA1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fucosidosis, 230000
Tags
Red List (low evidence)
GAB3
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
GABRQ
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
GAD1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Cerebral palsy, spastic quadriplegic, 1, 603513
  • Intellectual disability
Tags
Red List (low evidence)
GALE
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Galactose epimerase deficiency, 230350
Tags
Red List (low evidence)
GALT
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Galactosemia, 230400
Tags
Red List (low evidence)
GAMT
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cerebral creatine deficiency syndrome 2, 612736
Tags
Red List (low evidence)
GATAD2B
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Mental retardation, autosomal dominant 18, 615074
  • Intellectual disability
Tags
Red List (low evidence)
GATM
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cerebral creatine deficiency syndrome 3, 612718
Tags
Red List (low evidence)
GCDH
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
GCH1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230Hyperphenylalaninemia, BH4-deficient, B, 233910
  • Intellectual disability
Tags
Red List (low evidence)
GCSH
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Glycine encephalopathy, 605899
Tags
Red List (low evidence)
GFAP
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alexander disease, 203450
Tags
Red List (low evidence)
GFER
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076
Tags
Red List (low evidence)
GJB1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800
Tags
Red List (low evidence)
GJC2
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Leukodystrophy, hypomyelinating, 2, 608804Spastic paraplegia 44, autosomal recessive, 613206Lymphedema, hereditary, IC, 613480
  • Intellectual disability
Tags
Red List (low evidence)
GLB1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • GM1-gangliosidosis, type I, 230500GM1-gangliosidosis, type II, 230600GM1-gangliosidosis, type III, 230650Mucopolysaccharidosis type IVB (Morquio), 253010
  • Intellectual disability
Tags
Red List (low evidence)
GLDC
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Glycine encephalopathy, 605899
Tags
Red List (low evidence)
GLI2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Holoprosencephaly-9, 610829
Tags
Red List (low evidence)
GLI3
0 reviews
 Not set
Sources
  • 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
Tags
Red List (low evidence)
GLRA2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
GM2A
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • GM2-gangliosidosis, AB variant, 272750
  • Intellectual disability
Tags
Red List (low evidence)
GMPPB
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351
Tags
Red List (low evidence)
GNAS
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
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
Tags
Red List (low evidence)
GNPAT
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Chondrodysplasia punctata, rhizomelic, type 2, 222765
Tags
Red List (low evidence)
GNS
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis type IIID, 252940
Tags
Red List (low evidence)
GON4L
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
GPHN
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Molybdenum cofactor deficiency, type C, 252150
Tags
Red List (low evidence)
GPRASP1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
GRB14
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
GRIA1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
GRIA2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
GRIK2
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Mental retardation, autosomal recessive, 6, 611092
  • Intellectual disability
Tags
Red List (low evidence)
GRIN1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, autosomal dominant 8, 614254
Tags
Red List (low evidence)
GRIN2A
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Epilepsy with neurodevelopmental defects, 613971
  • Intellectual disability
Tags
Red List (low evidence)
GRM1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 13, 614831
Tags
Red List (low evidence)
GSPT2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
GSS
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to glutathione synthetase deficiency, 231900Glutathione synthetase deficiency, 266130
Tags
Red List (low evidence)
GTF2H5
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Trichothiodystrophy, complementation group A, 601675
Tags
Red List (low evidence)
GTPBP8
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
GUSB
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis VII, 253220
Tags
Red List (low evidence)
HAUS7
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
HAX1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neutropenia, severe congenital 3, autosomal recessive, 610738
Tags
Red List (low evidence)
HDAC4
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Brachydactyly-mental retardation syndrome, 600430
  • Intellectual disability
Tags
Red List (low evidence)
HDAC6
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia,300863
Tags
Red List (low evidence)
HDAC8
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Wilson-Turner syndrome, 309585Cornelia de Lange syndrome 5, 300882
  • Intellectual disability
Tags
Red List (low evidence)
HESX1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Septooptic dysplasia, 182230Pituitary hormone deficiency, combined, 5, 182230Growth hormone deficiency with pituitary anomalies, 182230
Tags
Red List (low evidence)
HEXA
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Tay-Sachs disease, 272800GM2-gangliosidosis, several forms, 272800[Hex A pseudodeficiency], 272800
  • Intellectual disability
Tags
Red List (low evidence)
HEXB
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Sandhoff disease, infantile, juvenile, and adult forms, 268800
  • Intellectual disability
Tags
Red List (low evidence)
HGSNAT
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
HIST1H4B
1 review
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
  • new-gene-name
Red List (low evidence)
HIST3H3
1 review
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
  • new-gene-name
Red List (low evidence)
HIVEP2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
HLCS
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Holocarboxylase synthetase deficiency, 253270
Tags
Red List (low evidence)
HNRNPU
0 reviews
 Not set
Sources
  • 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)
Tags
Red List (low evidence)
HOXA1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bosley-Salih-Alorainy syndrome, 601536Athabaskan brainstem dysgenesis syndrome, 601536
Tags
Red List (low evidence)
HPD
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Tyrosinemia, type III, 276710Hawkinsinuria, 140350
Tags
Red List (low evidence)
HRAS
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
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
  • Intellectual disability
Tags
Red List (low evidence)
HS6ST2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
HSPD1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Spastic paraplegia 13, autosomal dominant, 605280Leukodystrophy, hypomyelinating, 4, 612233
  • Intellectual disability
Tags
Red List (low evidence)
IDUA
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Mucopolysaccharidosis Ih, 607014Mucopolysaccharidosis Is, 607016Mucopolysaccharidosis Ih/s, 607015
  • Intellectual disability
Tags
Red List (low evidence)
IER3IP1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, 614231
Tags
Red List (low evidence)
IFNAR2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
IGF1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747
Tags
Red List (low evidence)
IGSF1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
IKBKG
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Known gene (Grozeva et al, 2015)
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
  • Intellectual disability
Tags
Red List (low evidence)
IL3RA
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
  • Pseudoautosomal region 1
Red List (low evidence)
INF2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Glomerulosclerosis, focal segmental, 5, 613237Charcot-Marie-Tooth disease, dominant intermediate E, 614455
Tags
Red List (low evidence)
INPP4A
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
INPP5E
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156Joubert syndrome 1, 213300
  • Intellectual disability
Tags
Red List (low evidence)
INTS6L
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
IRAK1
0 reviews
 Not set
Sources
  • UKGTN
Phenotypes
  • Lubs X-Linked Mental Retardation Syndrome
  • MRXSL
Tags
Red List (low evidence)
ISPD
1 review
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643
Tags
  • new-gene-name
Red List (low evidence)
ITGA4
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ITIH6
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
JAM3
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730
Tags
Red List (low evidence)
KANK1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
KAT6B
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • SBBYSS syndrome, 603736Genitopatellar syndrome, 606170
  • Intellectual disability
Tags
Red List (low evidence)
KCNC3
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
KCND1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
KCNH1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
KCNJ11
0 reviews
 Not set
Sources
  • 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
Tags
Red List (low evidence)
KCNK12
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
KCNQ2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Seizures, benign neonatal, 1, 121200Myokymia, 121200Epileptic encephalopathy, early infantile, 7, 613720
Tags
Red List (low evidence)
KCNQ3
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
KCNT1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epileptic encephalopathy, early infantile, 14, 614959Epilepsy, nocturnal frontal lobe, 5, 615005
Tags
Red List (low evidence)
KCTD7
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726
Tags
Red List (low evidence)
KDM1A
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
KDM5A
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
KDM6A
0 reviews
 Not set
Sources
  • Eligibility statement prior genetic testing
Phenotypes
  • Kabuki syndrome 2, 300867
  • Kabuki syndrome
Tags
Red List (low evidence)
KDM6B
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
KIF11
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950
Tags
Red List (low evidence)
KIF1BP
1 review
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Goldberg-Shprintzen megacolon syndrome, 609460
Tags
  • new-gene-name
Red List (low evidence)
KIF26B
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
KIF4A
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
KIF5C
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
KIF7
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Hydrolethalus syndrome 2, 614120Acrocallosal syndrome, 200990Joubert syndrome 12, 200990
  • Intellectual disability
Tags
Red List (low evidence)
KIRREL3
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Mental retardation, autosomal dominant 4, 612581
  • Intellectual disability
Tags
Red List (low evidence)
KLF8
0 reviews
 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
Tags
Red List (low evidence)
KLHL15
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
KLHL21
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
KLHL34
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
KLHL4
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
KMT2C
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
KMT2D
0 reviews
 Not set
Sources
  • Eligibility statement prior genetic testing
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Kabuki syndrome
  • Intellectual disability
Tags
Red List (low evidence)
KRAS
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
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
  • Intellectual disability
Tags
Red List (low evidence)
L2HGDH
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • L-2-hydroxyglutaric aciduria, 236792
Tags
Red List (low evidence)
LAMA1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
LAMA2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy, congenital merosin-deficient, 607855Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855
Tags
Red List (low evidence)
LAMC3
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cortical malformations, occipital, 614115
Tags
Red List (low evidence)
LARP7
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Alazami syndrome, 615071
  • Intellectual disability
Tags
Red List (low evidence)
LAS1L
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
LHFPL3
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
LIG4
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450
Tags
Red List (low evidence)
LIMK1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
LINS1
1 review
 Unknown
Sources
  • Other
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
LRP1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
LRP2
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Donnai-Barrow syndrome, 222448
  • Intellectual disability
Tags
Red List (low evidence)
LRPPRC
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leigh syndrome, French-Canadian type, 220111
Tags
Red List (low evidence)
LRRK1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MAGEA11
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MAGEB1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MAGEB10
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MAGEB2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MAGEC1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MAGEC3
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MAGED1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MAGEE2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MAGIX
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MAGT1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Mental retardation, X-linked 95, 300716Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853
  • Intellectual disability
Tags
Red List (low evidence)
MAN2B1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mannosidosis, alpha-, types I and II, 248500
Tags
Red List (low evidence)
MANBA
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mannosidosis, beta, 248510
Tags
Red List (low evidence)
MAOB
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MAP2K1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Cardiofaciocutaneous syndrome 3, 615279
  • Intellectual disability
Tags
Red List (low evidence)
MAP2K2
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Cardiofaciocutaneous syndrome 4, 615280
  • Intellectual disability
Tags
Red List (low evidence)
MAP3K15
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MAP7D3
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MAT1A
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/IIIdeficiency, 250850Methionine adenosyltransferase deficiency, autosomal recessive, 250850
Tags
Red List (low evidence)
MBNL3
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MCCC1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200
Tags
Red List (low evidence)
MCCC2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210
Tags
Red List (low evidence)
MCOLN1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucolipidosis IV, 252650
Tags
Red List (low evidence)
MCPH1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • genetic heterogeneity Microcephaly 1, primary, autosomal recessive, 251200
Tags
Red List (low evidence)
MED17
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668
  • Intellectual disability
Tags
Red List (low evidence)
MED23
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Mental retardation, autosomal recessive 18, 614249
  • Intellectual disability
Tags
Red List (low evidence)
MGAT2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type IIa, 212066
Tags
Red List (low evidence)
MGAT5B
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MIB1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MKKS
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • McKusick-Kaufman syndrome, 236700Bardet-Biedl syndrome 6, 209900
Tags
Red List (low evidence)
MLC1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MLH1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MLYCD
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Malonyl-CoA decarboxylase deficiency, 248360
  • Intellectual disability
Tags
Red List (low evidence)
MMAA
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Methylmalonic aciduria, vitamin B12-responsive, 251100
  • Intellectual disability
Tags
Red List (low evidence)
MMAB
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MMACHC
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, 277400
Tags
Red List (low evidence)
MMADHC
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Homocystinuria, cblD type, variant 1, 277410Methylmalonic aciduria, cblD type, variant 2, 277410Methylmalonic aciduria and homocystinuria, cblD type, 277410
  • Intellectual disability
Tags
Red List (low evidence)
MOCS1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Molybdenum cofactor deficiency, type A, 252150
Tags
Red List (low evidence)
MOCS2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Molybdenum cofactor deficiency, type B, 252150
Tags
Red List (low evidence)
MORC4
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MPDU1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type If, 609180
Tags
Red List (low evidence)
MPLKIP
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Trichothiodystrophy, nonphotosensitive 1, 234050
Tags
Red List (low evidence)
MRPS22
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Combined oxidative phosphorylation deficiency 5, 611719
Tags
Red List (low evidence)
MSL3
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MTF1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MTM1
0 reviews
 Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • X-linked Myotubular Myopathy
Tags
Red List (low evidence)
MTMR1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MTMR8
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MTR
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Homocystinuria-megaloblastic anemia, cblG complementation type, 250940
  • {Neural tube defects, folate-sensitive, susceptibility to}, 601634
Tags
Red List (low evidence)
MTRR
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Homocystinuria-megaloblastic anemia, cbl E type, 236270{Neural tube defects, folate-sensitive, susceptibility to}, 601634
Tags
Red List (low evidence)
MUT
1 review
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Methylmalonic aciduria, mut(0) type, 251000
Tags
  • new-gene-name
Red List (low evidence)
MVK
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mevalonic aciduria, 610377Hyper-IgD syndrome, 260920Porokeratosis 3, disseminated superficial actinic, 175900
Tags
Red List (low evidence)
MXRA5
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MYCN
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Feingold syndrome, 164280
Tags
Red List (low evidence)
MYO1D
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MYO1G
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
MYO5A
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Griscelli syndrome, type 1, 214450
Tags
Red List (low evidence)
MYT1L
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
NAGA
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Schindler disease, type I, 609241Kanzaki disease, 609242Schindler disease, type III, 609241
Tags
Red List (low evidence)
NAGLU
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920
Tags
Red List (low evidence)
NALCN
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Neuroaxonal neurodegeneration, infantile, with facial dysmophism, 615419
Tags
Red List (low evidence)
NDE1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Lissencephaly 4 (with microcephaly), 614019
  • Intellectual disability
Tags
Red List (low evidence)
NDST1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
NDUFA11
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mitochondrial complex I deficiency, 252010
Tags
Red List (low evidence)
NDUFA12
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leigh syndrome due to mitochondrial complex 1 deficiency, 256000
Tags
Red List (low evidence)
NDUFS1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mitochondrial complex I deficiency, 252010
Tags
Red List (low evidence)
NDUFS2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mitochondrial complex I deficiency, 252010
Tags
Red List (low evidence)
NDUFS3
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010
Tags
Red List (low evidence)
NDUFS4
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010
Tags
Red List (low evidence)
NDUFS7
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leigh syndrome, 256000
Tags
Red List (low evidence)
NDUFS8
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000
Tags
Red List (low evidence)
NDUFV1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mitochondrial complex I deficiency, 252010
Tags
Red List (low evidence)
NECAB2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
NECTIN1
1 review
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cleft lip/palate-ectodermal dysplasia syndrome, 225060Orofacial cleft 7, 225060
Tags
Red List (low evidence)
NEU1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Sialidosis, type I, 256550Sialidosis, type II, 256550
  • Intellectual disability
Tags
Red List (low evidence)
NEXMIF
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
NF1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Neurofibromatosis, type 1, 162200Leukemia, juvenile myelomonocytic, 607785Melanoma, desmoplastic neurotrophic (2)Neurofibromatosis, familial spinal, 162210Neurofibromatosis-Noonan syndrome, 601321Watson syndrome, 193520
  • Intellectual disability
Tags
Red List (low evidence)
NFIX
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
NIPBL
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cornelia de Lange syndrome 1, 122470
Tags
Red List (low evidence)
NKAP
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
NKX2-1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Goiter, familial, due to TTF-1 defect (1)Chorea, hereditary benign, 118700Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978
Tags
Red List (low evidence)
NLGN3
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
NLGN4X
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
NLRP3
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cold-induced autoinflammatory syndrome, familial, 120100Muckle-Wells syndrome, 191900CINCA syndrome, 607115
Tags
Red List (low evidence)
NPHP1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephronophthisis 1, juvenile, 256100Senior-Loken syndrome-1, 266900Joubert syndrome 4, 609583
Tags
Red List (low evidence)
NR1I3
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
NRAS
0 reviews
 Not set
Sources
  • 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
Tags
Red List (low evidence)
NRK
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
NRXN2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
NSD1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Sotos syndrome 1, 117550Leukemia, acute myeloid, 601626 (1)Beckwith-Wiedemann syndrome, 130650
  • Intellectual disability
Tags
Red List (low evidence)
NTM
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
NTRK1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Insensitivity to pain, congenital, with anhidrosis, 256800Medullary thyroid carcinoma, familial, 155240
Tags
Red List (low evidence)
NXF4
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
  • locus-type-pseudogene
Red List (low evidence)
NXF5
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
OCLN
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Band-like calcification with simplified gyration and polymicrogyria
  • Pseudo-TORCH syndrome 1, 251290 (includes profound developmental delay)
Tags
Red List (low evidence)
ODF2L
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
OGT
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
OR5M1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ORC1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meier-Gorlin syndrome 1, 224690
Tags
Red List (low evidence)
OXCT1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Succinyl-CoA: 3-Oxoacid CoA Transferase (SCOT) Deficiency
  • Intellectual disability
Tags
Red List (low evidence)
P2RY4
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
P2RY8
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
  • Pseudoautosomal region 1
Red List (low evidence)
PABPC5
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PACS1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, autosomal dominant 17, 615009
Tags
Red List (low evidence)
PAFAH1B1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia
  • Intellectual disability
Tags
Red List (low evidence)
PAH
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Phenylketonuria, 261600[Hyperphenylalaninemia, non-PKU mild], 261600
  • Intellectual disability
Tags
Red List (low evidence)
PANK2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neurodegeneration with brain iron accumulation 1, 234200HARP syndrome, 607236
Tags
Red List (low evidence)
PARP1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PASD1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PAX8
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700
Tags
Red List (low evidence)
PBRM1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PC
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Pyruvate carboxylase deficiency, 266150
  • Intellectual disability
Tags
Red List (low evidence)
PCDH10
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PCNT
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type II, 210720 -3
  • Intellectual disability
Tags
Red List (low evidence)
PDSS1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Coenzyme Q10 deficiency, primary, 2, 614651
Tags
Red List (low evidence)
PDSS2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Coenzyme Q10 deficiency, primary, 3, 614652
Tags
Red List (low evidence)
PECR
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PEPD
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Prolidase deficiency, 170100
  • Intellectual disability
Tags
Red List (low evidence)
PEX1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 1A (Zellweger), 214100Peroxisome biogenesis disorder 1B (NALD/IRD), 601539
Tags
Red List (low evidence)
PEX10
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 6A (Zellweger), 614870Peroxisome biogenesis disorder 6B, 614871
Tags
Red List (low evidence)
PEX11B
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 14B, 614920
Tags
Red List (low evidence)
PEX12
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 3A (Zellweger), 614859Peroxisome biogenesis disorder 3B, 266510
Tags
Red List (low evidence)
PEX13
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 11A (Zellweger), 614883Peroxisome biogenesis disorder 11B, 614885
Tags
Red List (low evidence)
PEX16
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 8A, (Zellweger), 614876Peroxisome biogenesis disorder 8B, 614877
Tags
Red List (low evidence)
PEX19
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 12A (Zellweger), 614886
Tags
Red List (low evidence)
PEX2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 5A (Zellweger), 614866Peroxisome biogenesis disorder 5B, 614867
Tags
Red List (low evidence)
PEX26
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger), 614872Peroxisome biogenesis disorder 7B, 614873
Tags
Red List (low evidence)
PEX3
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 10A (Zellweger), 614882
Tags
Red List (low evidence)
PEX5
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 2A (Zellweger), 214110Peroxisome biogenesis disorder 2B, 202370
Tags
Red List (low evidence)
PEX6
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 4A (Zellweger), 614862Peroxisome biogenesis disorder 4B, 614863
Tags
Red List (low evidence)
PEX7
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 1, 215100Peroxisome biogenesis disorder 9B, 614879
Tags
Red List (low evidence)
PGAP2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 3, 614207
Tags
Red List (low evidence)
PGRMC1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PHACTR1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PHF10
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PHGDH
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Phosphoglycerate dehydrogenase deficiency, 601815
Tags
Red List (low evidence)
PHIP
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PHKA1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PIGL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome
Tags
Red List (low evidence)
PIGN
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080
  • Intellectual disability
Tags
Red List (low evidence)
PIK3C3
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PIK3R2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387
Tags
Red List (low evidence)
PIN4
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PJA1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PLA2G6
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Infantile neuroaxonal dystrophy 1, 256600Neurodegeneration with brain iron accumulation 2B, 610217Parkinson disease 14, 612953
  • Intellectual disability
Tags
Red List (low evidence)
PLCB1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epileptic encephalopathy, early infantile, 12, 613722
Tags
Red List (low evidence)
PLCXD1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
  • Pseudoautosomal region 1
Red List (low evidence)
PLXNB3
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PMM2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type Ia, 212065
Tags
Red List (low evidence)
PNKP
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Epileptic encephalopathy, early infantile, 10, 613402
  • Intellectual disability
Tags
Red List (low evidence)
PNP
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179
Tags
Red List (low evidence)
POC1A
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813
Tags
Red List (low evidence)
POLA1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
POLR3A
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropichypogonadism, 607694
  • Intellectual disability
Tags
Red List (low evidence)
POLR3B
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropichypogonadism, 614381
  • Intellectual disability
Tags
Red List (low evidence)
PPOX
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Porphyria variegata, 176200
Tags
Red List (low evidence)
PPP2R5D
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PPT1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 1, 256730
  • Intellectual disability
Tags
Red List (low evidence)
PRDX4
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PRICKLE3
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PRMT9
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PRODH
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperprolinemia, type I, 239500{Schizophrenia, susceptibility to, 4}, 600850
Tags
Red List (low evidence)
PROX2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PRRG1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PRRG3
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PRRT2
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PSAP
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Metachromatic leukodystrophy due to SAP-b deficiency, 249900Gaucher disease, atypical, 610539Combined SAP deficiency, 611721Krabbe disease, atypical, 611722
Tags
Red List (low evidence)
PSMA7
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PSMD10
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PTCH1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Basal cell nevus syndrome, 109400Basal cell carcinoma, somatic, 605462Holoprosencephaly-7, 610828
Tags
Red List (low evidence)
PTCHD1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PTEN
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Cowden syndrome 1, 158350Lhermitte-Duclos syndrome, 158350Bannayan-Riley-Ruvalcaba syndrome, 153480{Meningioma}, 607174{Glioma susceptibility 2}, 613028Macrocephaly/autism syndrome, 605309PTEN hamartoma tumor syndromeVATER association with macrocephaly and ventriculomegaly, 276950{Prostate cancer, somatic}, 176807Thyroid carcinoma, follicular, somatic, 188470Malignant melanoma, somatic, 155600Endometrial carcinoma, somatic, 608089Squamous cell carcinoma, head and neck, somatic, 275355
  • Intellectual disability
Tags
Red List (low evidence)
PTPN11
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Noonan syndrome 1, 163950LEOPARD syndrome 1, 151100Leukemia, juvenile myelomonocytic, 607785Metachondromatosis, 156250
  • Intellectual disability
Tags
Red List (low evidence)
PTPN21
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PUDP
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
PUS1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mitochondrial myopathy and sideroblastic anemia 1, 600462
Tags
Red List (low evidence)
PYCR1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cutis laxa, autosomal recessive, type IIB, 612940Cutis laxa, autosomal recessive, type IIIB, 614438
Tags
Red List (low evidence)
RAB18
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Warburg micro syndrome 3, 614222
Tags
Red List (low evidence)
RAB27A
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Griscelli syndrome, type 2, 607624
Tags
Red List (low evidence)
RAB3GAP1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Warburg micro syndrome 1, 600118
  • Intellectual disability
Tags
Red List (low evidence)
RAB3GAP2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Martsolf syndrome, 212720Warburg micro syndrome 2, 614225
Tags
Red List (low evidence)
RAB40AL
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Mental retardation, X-linked, syndromic, Martin-Probst type, 300519 -3
  • Intellectual disability
Tags
Red List (low evidence)
RABL6
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
RAD21
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cornelia de Lange syndrome 4, 614701
Tags
Red List (low evidence)
RAF1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Noonan syndrome 5, 611553LEOPARD syndrome 2, 611554
  • Intellectual disability
Tags
Red List (low evidence)
RAI1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Immunodeficiency 9, 612782
  • Intellectual disability
Tags
Red List (low evidence)
RALGDS
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
RAPGEF1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
RARS2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pontocerebellar hypoplasia, type 6, 611523
Tags
Red List (low evidence)
RBM28
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alopecia, neurologic defects, and endocrinopathy syndrome, 612079
Tags
Red List (low evidence)
RELN
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lissencephaly 2 (Norman-Roberts type), 257320
Tags
Red List (low evidence)
RENBP
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
RFT1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type In, 612015
Tags
Red List (low evidence)
RGN
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
RGS7
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
RIT1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Noonan syndrome 8, 615355
Tags
Red List (low evidence)
RLIM
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
RMND1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Combined oxidative phosphorylation deficiency 11, 614922
Tags
Red List (low evidence)
RNASEH2A
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Aicardi-Goutieres syndrome 4, 610333
Tags
Red List (low evidence)
RNASEH2B
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Aicardi-Goutieres syndrome 2, 610181
Tags
Red List (low evidence)
RNASEH2C
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Aicardi-Goutieres syndrome 3, 610329
Tags
Red List (low evidence)
RNASET2
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Leukoencephalopathy, cystic, without megalencephaly, 612951
  • Intellectual disability
Tags
Red List (low evidence)
ROGDI
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Kohlschutter-Tonz syndrome, 226750
Tags
Red List (low evidence)
RPGR
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
RPGRIP1L
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Joubert syndrome 7, 611560Meckel syndrome 5, 611561COACH syndrome, 216360
Tags
Red List (low evidence)
RPL10
0 reviews
 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
Tags
Red List (low evidence)
RTL9
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SALL1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Townes-Brocks syndrome, 107480Townes-Brocks branchiootorenal-like syndrome, 107480
Tags
Red List (low evidence)
SATB2
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Cleft palate and mental retardation, 119540
  • Intellectual disability
Tags
Red List (low evidence)
SC5D
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lathosterolosis, 607330
Tags
Red List (low evidence)
SCAPER
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SCN2A
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Seizures, benign familial infantile, 3, 607745Epileptic encephalopathy, early infantile, 11, 613721
  • Intellectual disability
Tags
Red List (low evidence)
SCN8A
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Cognitive impairment with or without cerebellar ataxia, 614306Epileptic encephalopathy, early infantile, 13, 614558
  • Intellectual disability
Tags
Red List (low evidence)
SCO2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377Myopia 6, 608908
Tags
Red List (low evidence)
SDHA
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leigh syndrome, 256000Mitochondrial respiratory chain complex II deficiency, 252011Cardiomyopathy, dilated, 1GG, 613642Paragangliomas 5, 614165
Tags
Red List (low evidence)
SERAC1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
Tags
Red List (low evidence)
SETBP1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Schinzel-Giedion midface retraction syndrome, 269150
  • Intellectual disability
Tags
Red List (low evidence)
SETD5
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SETDB2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SGSH
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SHANK1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SHANK2
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SHANK3
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Phelan-McDermid syndrome, 606232{Schizophrenia 15}, 613950
  • Intellectual disability
Tags
Red List (low evidence)
SHH
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Holoprosencephaly-3, 142945Single median maxillary central incisor, 147250Microphthalmia with coloboma 5, 611638Schizencephaly, 269160
Tags
Red List (low evidence)
SHOC2
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Noonan-like syndrome with loose anagen hair, 607721
  • Intellectual disability
Tags
Red List (low evidence)
SHOX
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
  • Pseudoautosomal region 1
Red List (low evidence)
SHROOM2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SIL1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Marinesco-Sjogren syndrome, 248800
Tags
Red List (low evidence)
SIX3
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Holoprosencephaly-2, 157170Schizensephaly, 269160
Tags
Red List (low evidence)
SKI
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Shprintzen-Goldberg syndrome, 182212
Tags
Red List (low evidence)
SLC12A6
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Agenesis of the corpus callosum with peripheral neuropathy, 218000 -3
  • Intellectual disability
Tags
Red List (low evidence)
SLC17A5
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Salla disease, 604369Sialic acid storage disorder, infantile, 269920
Tags
Red List (low evidence)
SLC25A15
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 -3
Tags
Red List (low evidence)
SLC25A22
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Epileptic encephalopathy, early infantile, 3, 609304
  • Intellectual disability
Tags
Red List (low evidence)
SLC25A53
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SLC25A6
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
  • Pseudoautosomal region 1
Red List (low evidence)
SLC26A9
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SLC2A1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • GLUT1 deficiency syndrome 1, 606777GLUT1 deficiency syndrome 2, 612126{Epilepsy, idiopathic generalized, suscpetibility to, 12}, 614847Dystonia 9, 601042
  • Intellectual disability
Tags
Red List (low evidence)
SLC31A1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SLC33A1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 42, autosomal dominant, 612539Congenital cataracts, hearing loss, and neurodegeneration, 614482
Tags
Red List (low evidence)
SLC35C1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type IIc, 266265
Tags
Red List (low evidence)
SLC4A4
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal tubular acidosis, proximal, with ocular abnormalities, 604278
Tags
Red List (low evidence)
SLC6A1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SLC6A17
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SLC6A8
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Cerebral creatine deficiency syndrome 1, 300352
  • Intellectual disability
Tags
Red List (low evidence)
SMAD4
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pancreatic cancerPolyposis, juvenile intestinal, 174900Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050Myhre syndrome, 139210
Tags
Red List (low evidence)
SMARCA2
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Nicolaides-Baraitser syndrome, 601358
  • Intellectual disability
Tags
Red List (low evidence)
SMARCA4
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Rhabdoid tumor predisposition syndrome 2, 613325Mental retardation, autosomal dominant 16, 614609
  • Intellectual disability
Tags
Red List (low evidence)
SMARCB1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Rhabdoid tumors, somatic, 609322Rhabdoid predisposition syndrome 1, 609322Mental retardation, autosomal dominant 15, 614608
  • Intellectual disability
Tags
Red List (low evidence)
SMARCC1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SMARCC2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SMARCD1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SMARCD2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SMARCD3
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SMARCE1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SMC1A
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SMC3
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cornelia de Lange syndrome 3, 610759
Tags
Red List (low evidence)
SMOC1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia with limb anomalies, 206920
Tags
Red List (low evidence)
SMPD1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Niemann-Pick disease, type A, 257200Niemann-Pick disease, type B, 607616
Tags
Red List (low evidence)
SNAP29
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528
Tags
Red List (low evidence)
SNTG1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SOBP
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, anterior maxillary protrusion, and strabismus, 613671
Tags
Red List (low evidence)
SOS1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Fibromatosis, gingival, 135300Noonan syndrome 4, 610733
  • Intellectual disability
Tags
Red List (low evidence)
SOX10
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Waardenburg syndrome, type 4C, 613266Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584PCWH syndrome, 609136
Tags
Red List (low evidence)
SOX5
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SPG11
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Spastic paraplegia 11, autosomal recessive, 604360
  • Intellectual disability
Tags
Red List (low evidence)
SPRED1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Legius syndrome, 611431
  • Intellectual disability
Tags
Red List (low evidence)
SPRY3
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
  • Pseudoautosomal region 2
Red List (low evidence)
SPTAN1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Epileptic encephalopathy, early infantile, 5, 613477
  • Intellectual disability
Tags
Red List (low evidence)
SPTLC2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SRCAP
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Floating-Harbor syndrome, 136140
Tags
Red List (low evidence)
SRD5A3
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type Iq, 612379Kahrizi syndrome, 612713
Tags
Red List (low evidence)
SREBF2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SRGAP3
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SRPX2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Rolandic epilepsy, mental retardation, and speech dyspraxia, 300643 -3
  • Intellectual disability
Tags
Red List (low evidence)
ST3GAL3
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Mental retardation, autosomal recessive 12, 611090Epileptic encephalopathy, early infantile, 15, 615006
  • Intellectual disability
Tags
Red List (low evidence)
STAB2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
STAG1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
STARD8
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
STIL
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly 7, primary, autosomal recessive, 612703
Tags
Red List (low evidence)
STRA6
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, syndromic 9, 601186Microphthalmia, isolated, with coloboma 8, 601186
Tags
Red List (low evidence)
STXBP1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Epileptic encephalopathy, early infantile, 4, 612164 (2)
  • Intellectual disability
Tags
Red List (low evidence)
SUOX
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Sulfite oxidase deficiency, 272300
Tags
Red List (low evidence)
SURF1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leigh syndrome, due to COX deficiency, 256000
Tags
Red List (low evidence)
SVBP
1 review
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SYNCRIP
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SYNE1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SYNGAP1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Mental retardation, autosomal dominant 5, 612621
  • Intellectual disability
Tags
Red List (low evidence)
SYT1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SYT14
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 11, 614229
Tags
Red List (low evidence)
SYTL4
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
SYTL5
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TAF1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TAF2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TAF7L
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TANC2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TAT
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Tyrosinemia, type II, 276600
  • Intellectual disability
Tags
Red List (low evidence)
TBC1D24
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Myoclonic epilepsy, infantile, familial, 605021Epileptic encephalopathy, early infantile, 16, 615338
  • Intellectual disability
Tags
Red List (low evidence)
TBC1D8B
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TBCE
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Kenny-Caffey syndrome-1, 244460Hypoparathyroidism-retardation-dysmorphism syndrome, 241410
Tags
Red List (low evidence)
TCEAL3
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TCP10L2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TECR
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, autosomal recessive 14, 614020
Tags
Red List (low evidence)
TENM1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TEPSIN
1 review
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TGFBR1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Loeys-Dietz syndrome, type 1A, 609192Loeys-Dietz syndrome, type 2A, 608967{Multiple self-healing squamous epithelioma, susceptiblity to}, 132800
Tags
Red List (low evidence)
TGFBR2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 6, 614331Esophageal cancer, somatic, 133239Loeys-Dietz syndrome, type 1B, 610168Loeys-Dietz syndrome, type 2B, 610380
Tags
Red List (low evidence)
THAP1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
THOC2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
THRB
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Thyroid hormone resistance, 188570Thyroid hormone resistance, autosomal recessive, 274300Thyroid hormone resistance, selective pituitary, 145650
Tags
Red List (low evidence)
THUMPD1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TKTL1
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TLR8
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TMCO1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 614132
Tags
Red List (low evidence)
TMEM132E
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TMEM135
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TMEM165
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type IIk, 614727
Tags
Red List (low evidence)
TMEM231
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Joubert syndrome 20, 614970Meckel syndrome, type 11, 615397 -3
Tags
Red List (low evidence)
TMEM237
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Joubert syndrome 14, 614424
Tags
Red List (low evidence)
TMEM67
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meckel syndrome 3, 607361Joubert syndrome 6, 610688{Bardet-Biedl syndrome 14, modifier of}, 209900COACH syndrome, 216360Nephronophthisis 11, 613550
Tags
Red List (low evidence)
TMLHE
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TNKS2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TNPO2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TPP1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 2, 204500
Tags
Red List (low evidence)
TREX1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Aicardi-Goutieres syndrome 1, dominant and recessive, 225750Chilblain lupus, 610448Vasculopathy, retinal, with cerebral leukodystrophy, 192315{Systemic lupus erythematosus, susceptibility to}, 152700
Tags
Red List (low evidence)
TREX2
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TRIO
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TRMT1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TSC1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Tuberous sclerosis-1, 191100Lymphangioleiomyomatosis, 606690Focal cortical dysplasia, Taylor balloon cell type, 607341
  • Intellectual disability
Tags
Red List (low evidence)
TSC2
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Tuberous sclerosis-2, 613254Lymphangioleiomyomatosis, somatic, 606690
  • Intellectual disability
Tags
Red List (low evidence)
TSC22D3
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TSEN2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TSEN34
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TSEN54
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TTC8
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet-Biedl syndrome 8, 209900Retinitis pigmentosa 51, 613464
Tags
Red List (low evidence)
TTI2
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TUBA1A
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Lissencephaly 3, 611603
  • Intellectual disability
Tags
Red List (low evidence)
TUBA8
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Polymicrogyria with optic nerve hypoplasia, 613180
  • Intellectual disability
Tags
Red List (low evidence)
TUBAL3
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
TUBB2B
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Polymicrogyria, symmetric or asymmetric, 610031
  • Intellectual disability
Tags
Red List (low evidence)
TUSC3
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Mental retardation, autosomal recessive 7, 611093
  • Intellectual disability
Tags
Red List (low evidence)
UBR1
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Johanson-Blizzard syndrome, 243800
  • Intellectual disability
Tags
Red List (low evidence)
UBR7
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
UBTF
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
UPB1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Beta-ureidopropionase deficiency, 613161
Tags
Red List (low evidence)
USP27X
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
USP9X
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
UTP14A
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
VAMP7
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
  • Pseudoautosomal region 2
Red List (low evidence)
VLDLR
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
  • Intellectual disability
Tags
Red List (low evidence)
VRK1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Pontocerebellar hypoplasia type 1A, 607596
  • Intellectual disability
Tags
Red List (low evidence)
WAC
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
WDR11
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
WDR13
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
WDR45
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neurodegeneration with brain iron accululation 5, 300894
Tags
Red List (low evidence)
WDR45B
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
WDR81
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
Tags
Red List (low evidence)
WNK3
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
WWC3
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
XIAP
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
XK
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
XKRX
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
XPA
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Xeroderma pigmentosum, group A, 278700
Tags
Red List (low evidence)
XPNPEP3
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephronophthisis-like nephropathy 1, 613159
Tags
Red List (low evidence)
YY1
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ZBTB16
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leukemia, acute promyelocytic, PL2F/RARA typeSkeletal defects, genital hypoplasia, and mental retardation, 612447
Tags
Red List (low evidence)
ZBTB18
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ZBTB40
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ZC3H14
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ZCCHC12
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ZCCHC8
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ZDHHC15
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ZFHX4
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ZFX
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ZFYVE26
0 reviews
 Not set
Sources
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ZIC2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Holoprosencephaly-5, 609637
Tags
Red List (low evidence)
ZMYM3
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ZMYM6
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ZMYND12
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ZNF425
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ZNF526
0 reviews
 Not set
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ZNF592
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 5, 606937
Tags

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  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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