Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2 		0.460 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.450 Biomarker disease GENOMICS_ENGLAND By whole-exome sequencing and subsequent mutation screening, we identified de novo heterozygous mutations in GNAO1, which encodes a Gαo subunit of heterotrimeric G proteins, in four individuals with epileptic encephalopathy. 23993195 2013
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		0.440 Biomarker disease GENOMICS_ENGLAND Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704 2016
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		0.440 Biomarker disease GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111 2013
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		0.440 Biomarker disease GENOMICS_ENGLAND Heterozygous variants of GRIN1, encoding the GluN1 subunit of the NMDA receptor, have been reported in patients with neurodevelopmental disorders including epileptic encephalopathy, severe intellectual disability, and movement disorders. 28051072 2017
Entrez Id: 1759
Gene Symbol: DNM1
DNM1 		0.430 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1106
Gene Symbol: CHD2
CHD2 		0.430 Biomarker disease GENOMICS_ENGLAND Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
Entrez Id: 1106
Gene Symbol: CHD2
CHD2 		0.430 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.430 Biomarker disease GENOMICS_ENGLAND Mutations in the P/Q type calcium channel CACNA1A have been implicated in epileptic encephalopathy, familial hemiplegic migraine, episodic ataxia 2, and spinocerebellar ataxia 6, but not Rett syndrome. 29366381 2018
Entrez Id: 2257
Gene Symbol: FGF12
FGF12 		0.430 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 2257
Gene Symbol: FGF12
FGF12 		0.430 Biomarker disease GENOMICS_ENGLAND De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. 27872899 2016
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B 		0.410 Biomarker disease GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111 2013
Entrez Id: 9568
Gene Symbol: GABBR2
GABBR2 		0.410 Biomarker disease GENOMICS_ENGLAND "Reply to ""a novel mutation in the transmembrane 6 domain of GABBR2 leads to a rett-like phenotype""." 29377213 2018
Entrez Id: 9568
Gene Symbol: GABBR2
GABBR2 		0.410 Biomarker disease GENOMICS_ENGLAND GABBR2 is a genetic factor that determines RTT- or EE-like phenotype expression depending on the variant positions. 28856709 2017
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		0.410 Biomarker disease GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111 2013
Entrez Id: 9568
Gene Symbol: GABBR2
GABBR2 		0.410 Biomarker disease GENOMICS_ENGLAND De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651 2014
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2 		0.410 Biomarker disease GENOMICS_ENGLAND De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.400 Biomarker disease GENOMICS_ENGLAND Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses. 23141534 2012
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU 		0.400 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 23258
Gene Symbol: DENND5A
DENND5A 		0.400 Biomarker disease GENOMICS_ENGLAND Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. 27431290 2017
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.400 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 23258
Gene Symbol: DENND5A
DENND5A 		0.400 Biomarker disease GENOMICS_ENGLAND Here, we have identified an epileptic encephalopathy additionally featuring cerebral calcifications and coarse facial features caused by recessive loss-of-function mutations in DENND5A. 27866705 2016
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU 		0.400 Biomarker disease GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111 2013
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU 		0.400 Biomarker disease GENOMICS_ENGLAND Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.330 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016