Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.670 Biomarker GENOMICS_ENGLAND

Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.650 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 80155
Gene Symbol: NAA15
NAA15
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.630 Biomarker GENOMICS_ENGLAND Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889

2017

Entrez Id: 55023
Gene Symbol: PHIP
PHIP
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.610 Biomarker GENOMICS_ENGLAND Using whole-exome sequencing, we have identified novel de novo heterozygous pleckstrin homology domain-interacting protein (<i>PHIP</i>) variants that are predicted to be deleterious, including a frameshift deletion, in two unrelated patients with common clinical features of developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features. 27900362

2016

Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.610 Biomarker GENOMICS_ENGLAND A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures. 21330303

2011

Entrez Id: 3340
Gene Symbol: NDST1
NDST1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.610 Biomarker GENOMICS_ENGLAND Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011

Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.600 Biomarker GENOMICS_ENGLAND We investigated a family of three boys with intellectual disability, and among them we identified two different mutations in KDM5C, located at Xp11.22, using whole-exome sequencing. 26919706

2016

Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.600 Biomarker GENOMICS_ENGLAND We investigated a family of three boys with intellectual disability, and among them we identified two different mutations in KDM5C, located at Xp11.22, using whole-exome sequencing. 26919706

2016

Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.600 Biomarker GENOMICS_ENGLAND Recently, a homozygous missense mutation in MED13L was found in two siblings with non-syndromic ID from a consanguineous family. 23403903

2013

Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.600 Biomarker GENOMICS_ENGLAND Recently, a homozygous missense mutation in MED13L was found in two siblings with non-syndromic ID from a consanguineous family. 23403903

2013

Entrez Id: 7528
Gene Symbol: YY1
YY1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.600 Biomarker GENOMICS_ENGLAND A de novo paradigm for mental retardation. 21076407

2010

Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.600 Biomarker GENOMICS_ENGLAND Mutation analysis of the JARID1C gene was conducted in the following cohorts: probands from 23 XLMR families linked to Xp11.2, 92 males with mental retardation and short stature, and 172 probands from small XLMR families with no linkage information. 18697827

2008

Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.600 Biomarker GENOMICS_ENGLAND Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. 8651275

1996

Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.550 Biomarker GENOMICS_ENGLAND This family provides strong evidence that homozygous PRRT2 mutations give rise to more severe clinical disease of mental retardation, episodic ataxia, and absences, and, thus, enlarges the clinical spectrum related to PRRT2 mutations. 23126439

2012

Entrez Id: 55621
Gene Symbol: TRMT1
TRMT1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.520 Biomarker GENOMICS_ENGLAND Our results uncover a biological role for TRMT1-catalyzed tRNA modification in redox metabolism and show that individuals with TRMT1-associated ID are likely to have major perturbations in cellular homeostasis due to the lack of m2,2G modifications. 28784718

2017

Entrez Id: 131669
Gene Symbol: UROC1
UROC1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.510 Biomarker GENOMICS_ENGLAND Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1. 30619714

2019

Entrez Id: 6309
Gene Symbol: SC5D
SC5D
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.510 Biomarker GENOMICS_ENGLAND Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties. 30097991

2019

Entrez Id: 131669
Gene Symbol: UROC1
UROC1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.510 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker GENOMICS_ENGLAND Whole exome sequencing identified a novel missense PQBP1 variant c.530G>A:p.R177H in the second family, in which the index patient presented with intellectual disability and dysmorphic facial features reminiscent of Kabuki-like syndrome and his brain magnetic resonance imaging revealed partial agenesis of corpus callosum, mild vermis, and brainstem hypoplasia. 30244542

2018

Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker GENOMICS_ENGLAND Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014

Entrez Id: 84320
Gene Symbol: ACBD6
ACBD6
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker GENOMICS_ENGLAND Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011

Entrez Id: 51317
Gene Symbol: PHF21A
PHF21A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 Biomarker GENOMICS_ENGLAND This study shows that PHF21A haploinsufficiency results in intellectual disability and craniofacial anomalies and possibly contributes to susceptibility to autism spectrum disorder, epilepsy, and overgrowth, all of which are PSS features. 30487643

2019

Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.470 Biomarker GENOMICS_ENGLAND Finally, a constitutional de novo mutation of MTOR (p.Glu1799Lys) was identified in 3 unrelated children with diffuse megalencephaly and intellectual disability. 27159400

2016