Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.440 Biomarker GENOMICS_ENGLAND Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain. 28636205

2017

Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.440 Biomarker GENOMICS_ENGLAND A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia. 27725288

2016

Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.420 Biomarker GENOMICS_ENGLAND Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. 28087732

2017

Entrez Id: 10735
Gene Symbol: STAG2
STAG2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.420 Biomarker GENOMICS_ENGLAND Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability. 25450604

2015

Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.420 Biomarker GENOMICS_ENGLAND Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations. 23045302

2013

Entrez Id: 23334
Gene Symbol: SZT2
SZT2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.420 Biomarker GENOMICS_ENGLAND An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability. 24324832

2013

Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.420 Biomarker GENOMICS_ENGLAND Clinical and brain MRI follow-up study of a family with COL4A1 mutation. 17938367

2007

Entrez Id: 1822
Gene Symbol: ATN1
ATN1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker GENOMICS_ENGLAND To distinguish this subset of affected individuals from the DRPLA diagnosis, we suggest using the term CHEDDA (congenital hypotonia, epilepsy, developmental delay, digit abnormalities) to classify the condition. 30827498

2019

Entrez Id: 5515
Gene Symbol: PPP2CA
PPP2CA
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker GENOMICS_ENGLAND We now report 16 individuals with mild to profound ID and DD and a de novo mutation in PPP2CA, encoding the catalytic Cα subunit. 30595372

2019

Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker GENOMICS_ENGLAND The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. 31079897

2019

Entrez Id: 6942
Gene Symbol: TCF20
TCF20
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker GENOMICS_ENGLAND Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability. 30525188

2019

Entrez Id: 6659
Gene Symbol: SOX4
SOX4
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker GENOMICS_ENGLAND Using trio-based exome sequencing, we here identify de novo SOX4 heterozygous missense variants in four children who share developmental delay, intellectual disability, and mild facial and digital morphological abnormalities. 30661772

2019

Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker GENOMICS_ENGLAND Autozygome and high throughput confirmation of disease genes candidacy. 30237576

2019

Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker GENOMICS_ENGLAND Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. 30580808

2019

Entrez Id: 5879
Gene Symbol: RAC1
RAC1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker GENOMICS_ENGLAND We report seven individuals with distinct de novo missense RAC1 mutations and varying degrees of developmental delay, brain malformations, and additional phenotypes. 28886345

2017

Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706

2016

Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706

2016

Entrez Id: 23028
Gene Symbol: KDM1A
KDM1A
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker GENOMICS_ENGLAND De novo variants in KDM1A underlie a new syndrome characterized by developmental delay and distinctive facial features. 26656649

2016

Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker GENOMICS_ENGLAND Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. 27479843

2016

Entrez Id: 84231
Gene Symbol: TRAF7
TRAF7
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker GENOMICS_ENGLAND Excess of rare, inherited truncating mutations in autism. 25961944

2015

Entrez Id: 84231
Gene Symbol: TRAF7
TRAF7
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker GENOMICS_ENGLAND Excess of rare, inherited truncating mutations in autism. 25961944

2015

Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker GENOMICS_ENGLAND A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations. 26163108

2015

Entrez Id: 10297
Gene Symbol: APC2
APC2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker GENOMICS_ENGLAND Directional neuronal migration is impaired in mice lacking adenomatous polyposis coli 2. 22573669

2012

Entrez Id: 10297
Gene Symbol: APC2
APC2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker GENOMICS_ENGLAND Directional neuronal migration is impaired in mice lacking adenomatous polyposis coli 2. 22573669

2012

Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker GENOMICS_ENGLAND Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 18697827

2008