Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9698
Gene Symbol: PUM1
PUM1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy. 31859446

2020
Entrez Id: 7360
Gene Symbol: UGP2
UGP2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. 31820119

2020
Entrez Id: 84148
Gene Symbol: KAT8
KAT8
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. 31794431

2020
Entrez Id: 26007
Gene Symbol: TKFC
TKFC
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND Shared phenotypes between affected individuals with TKFC deficiency include cataracts and developmental delay, associated with cerebellar hypoplasia in one case. 32004446

2020
Entrez Id: 9330
Gene Symbol: GTF3C3
GTF3C3
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. 30552426

2019
Entrez Id: 7812
Gene Symbol: CSDE1
CSDE1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission. 31579823

2019
Entrez Id: 9488
Gene Symbol: PIGB
PIGB
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. 31256876

2019
Entrez Id: 57700
Gene Symbol: FAM160B1
FAM160B1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems. 31353455

2019
Entrez Id: 1173
Gene Symbol: AP2M1
AP2M1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. 31104773

2019
Entrez Id: 4905
Gene Symbol: NSF
NSF
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND De novo NSF mutations cause early infantile epileptic encephalopathy. 31675180

2019
Entrez Id: 2806
Gene Symbol: GOT2
GOT2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. 31422819

2019
Entrez Id: 2806
Gene Symbol: GOT2
GOT2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. 31422819

2019
Entrez Id: 4081
Gene Symbol: MAB21L1
MAB21L1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). 30487245

2019
Entrez Id: 128869
Gene Symbol: PIGU
PIGU
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies. 31353022

2019
Entrez Id: 51075
Gene Symbol: TMX2
TMX2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND Abstracts from the 51st European Society of Human Genetics Conference: Oral Presentations. 31270415

2019
Entrez Id: 51075
Gene Symbol: TMX2
TMX2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND Abstracts from the 51st European Society of Human Genetics Conference: Oral Presentations. 31270415

2019
Entrez Id: 6844
Gene Symbol: VAMP2
VAMP2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment. 30929742

2019
Entrez Id: 1024
Gene Symbol: CDK8
CDK8
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. 30905399

2019
Entrez Id: 1656
Gene Symbol: DDX6
DDX6
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND Here, we report the identification of five rare de novo missense variants in DDX6 in probands presenting with intellectual disability, developmental delay, and similar dysmorphic features including telecanthus, epicanthus, arched eyebrows, and low-set ears. 31422817

2019
Entrez Id: 23291
Gene Symbol: FBXW11
FBXW11
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. 31402090

2019
Entrez Id: 162
Gene Symbol: AP1B1
AP1B1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. 31630791

2019
Entrez Id: 9922
Gene Symbol: IQSEC1
IQSEC1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND The phenotypic similarity of the affecteds and the functional experiments in flies and mice indicate that IQSEC1 variants are the cause of a recessive disease with intellectual disability, developmental delay, and short stature, and that axonal guidance and dendritic projection defects as well as dendritic spine dysgenesis may underlie disease pathogenesis. 31607425

2019
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants. 31752325

2019
Entrez Id: 22884
Gene Symbol: WDR37
WDR37
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. 31327508

2019
Entrez Id: 4905
Gene Symbol: NSF
NSF
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND De novo NSF mutations cause early infantile epileptic encephalopathy. 31675180

2019