Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0036572
Disease: Seizures
Seizures 		0.700 Biomarker GENOMICS_ENGLAND A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia. 27725288

2016
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
CUI: C0036572
Disease: Seizures
Seizures 		0.610 Biomarker GENOMICS_ENGLAND Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. 27666374

2016
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0036572
Disease: Seizures
Seizures 		0.600 Biomarker GENOMICS_ENGLAND Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. 24268530

2014
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0036572
Disease: Seizures
Seizures 		0.500 Biomarker GENOMICS_ENGLAND Iowa variant of familial Alzheimer's disease: accumulation of posttranslationally modified AbetaD23N in parenchymal and cerebrovascular amyloid deposits. 20228223

2010
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
CUI: C0036572
Disease: Seizures
Seizures 		0.460 Biomarker GENOMICS_ENGLAND Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord. 16505300

2006
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0036572
Disease: Seizures
Seizures 		0.440 Biomarker GENOMICS_ENGLAND Association between methylenetetrahydrofolate reductase C677T polymorphism and epilepsy susceptibility: a meta-analysis. 24556013

2014
Entrez Id: 2752
Gene Symbol: GLUL
GLUL
CUI: C0036572
Disease: Seizures
Seizures 		0.430 Biomarker GENOMICS_ENGLAND Role of glutamine synthetase in angiogenesis beyond glutamine synthesis. 30158707

2018
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0036572
Disease: Seizures
Seizures 		0.420 Biomarker GENOMICS_ENGLAND Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A. 26358754

2015
Entrez Id: 28514
Gene Symbol: DLL1
DLL1
CUI: C0036572
Disease: Seizures
Seizures 		0.410 Biomarker GENOMICS_ENGLAND Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. 31353024

2019
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1
CUI: C0036572
Disease: Seizures
Seizures 		0.410 Biomarker GENOMICS_ENGLAND Our study reports the second family with mutations in AP4S1 and describes the first two patients with loss of AP4S1 and seizures. 25552650

2015
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C0036572
Disease: Seizures
Seizures 		0.410 Biomarker GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582

2015
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0036572
Disease: Seizures
Seizures 		0.410 Biomarker GENOMICS_ENGLAND Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair. 22182342

2012
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C0036572
Disease: Seizures
Seizures 		0.410 Biomarker GENOMICS_ENGLAND Cysteine-sparing notch3 mutations: cadasil or cadasil variants? 19528524

2009
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1
CUI: C0036572
Disease: Seizures
Seizures 		0.410 Biomarker GENOMICS_ENGLAND

Entrez Id: 51227
Gene Symbol: PIGP
PIGP
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker GENOMICS_ENGLAND Biallelic mutations in PIGP cause developmental and epileptic encephalopathy. 31139695

2019
Entrez Id: 774
Gene Symbol: CACNA1B
CACNA1B
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker GENOMICS_ENGLAND Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. 30982612

2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker GENOMICS_ENGLAND Autozygome and high throughput confirmation of disease genes candidacy. 30237576

2019
Entrez Id: 91801
Gene Symbol: ALKBH8
ALKBH8
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker GENOMICS_ENGLAND Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification. 31079898

2019
Entrez Id: 80036
Gene Symbol: TRPM3
TRPM3
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker GENOMICS_ENGLAND De novo substitutions of TRPM3 cause intellectual disability and epilepsy. 31278393

2019
Entrez Id: 1629
Gene Symbol: DBT
DBT
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker GENOMICS_ENGLAND Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations. 31119508

2019
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker GENOMICS_ENGLAND FAHN/SPG35: a narrow phenotypic spectrum across disease classifications. 31135052

2019
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker GENOMICS_ENGLAND Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome). 30940925

2019
Entrez Id: 8560
Gene Symbol: DEGS1
DEGS1
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker GENOMICS_ENGLAND DEGS1 variant causes neurological disorder. 31186544

2019
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker GENOMICS_ENGLAND De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome. 30827498

2019
Entrez Id: 5515
Gene Symbol: PPP2CA
PPP2CA
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker GENOMICS_ENGLAND De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders. 30595372

2019