Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ADSL gene ADSL Expert;Expert Review Green;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Adenylosuccinase deficiency Kmoch et al (2000) Hum Mol Genet 9(10): 1501-1513 False 3 0;0;0 0.16 False ENSG00000239900 ENSG00000239900 HGNC:291 ALG13 gene ALG13 Expert Review Green;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Congenital disorder of glycosylation, type Is;Infantile spasms and LGS Ligt et al (2012) N Eng J Med 367: 1921-9;Epi4K Consortium & Epilepsy Phenome/Genome Project (2013) Nature 215:217-223 False 3 0;0;0 0.16 False ENSG00000101901 ENSG00000101901 HGNC:30881 ARHGEF9 gene ARHGEF9 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females False 3 0;0;0 0.16 False ENSG00000131089 ENSG00000131089 HGNC:14561 ARX gene ARX Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Tsurusaki et al (2002) Nature 30: 441-445;Kato et al (2004) Hum Mut 23: 147-159;Bienvenu et al (2002) Hum Mol Genet 11(8): 981-991;Partington et al (1998) Am J Med Genet 30: 251-262 False 3 0;0;0 0.16 False ENSG00000004848 ENSG00000004848 HGNC:18060 ATP1A3 gene ATP1A3 Expert;Expert Review Green;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alternating hemiplegia of childhood 2;Catastrophic epilepsy, unusual apnea spells, and postnatal microcephaly;Dystonia-12;CAPOS Syndrome (recurrent mutation) Heinzen et al (2012) Nature Genet 44(9): 1030-1035;de Carvalho Aguiar et al (2004) Neuron 43: 169-175;Demos et al (2014) Orphanet Journal of Rare Diseases 2014, 9:15 False 3 0;0;0 0.16 False ENSG00000105409 ENSG00000105409 HGNC:801 ATRX gene ATRX Expert;Expert Review Green;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Alpha-thalassemia/mental retardation syndrome;Mental retardation-hypotonic facies syndrome, X-linked Gibbons et al (1995) Cell 80: 837-845;Stevenson et al (2000) Am J Med Genet 94: 383-385 False 3 0;0;0 0.16 False ENSG00000085224 ENSG00000085224 HGNC:886 CDKL5 gene CDKL5 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Angelman syndrome-like;Epileptic encephalopathy, early infantile, 2 Kishino et al (1995) Nature Genet 15: 70-73;Tao et al (2004) Am J Hum Genet 75: 1149-1154 False 3 0;0;0 0.16 False ENSG00000008086 ENSG00000008086 HGNC:11411 CHD2 gene CHD2 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EPILEPTIC ENCEPHALOPATHY False 3 0;0;0 0.16 False ENSG00000173575 ENSG00000173575 HGNC:1917 CHRNA4 gene CHRNA4 Expert;Expert Review Green;Literature;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, nocturnal frontal lobe, 1;600513 Steinlein et al (1995) Nature Genet 11: 201-203 False 3 0;0;0 0.16 False ENSG00000101204 ENSG00000101204 HGNC:1958 CNTNAP2 gene CNTNAP2 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical Dysplasia-Focal Epilepsy Syndrome ;Cortical dysplasia-focal epilepsy syndrome;Pitt-Hopkins like syndrome 1 16571880 False 3 0;0;0 0.16 False ENSG00000174469 ENSG00000174469 HGNC:13830 DEPDC5 gene DEPDC5 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, familial focal, with variable foci;604364;Epilepsy, familial focal, with variable foci 14510823;15329069;10825362;10577924;9851433;23542701 False 3 0;0;0 0.16 False ENSG00000100150 ENSG00000100150 HGNC:18423 DNM1 gene DNM1 Expert Review;Expert Review Green Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11 False 3 0;0;0 0.16 False ENSG00000106976 ENSG00000106976 HGNC:2972 DOCK7 gene DOCK7 Expert Review;Expert Review Green Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23;EIEE23 Perrault et al (2014) AJHG 94(6). 891-897 False 3 0;0;0 0.16 False ENSG00000116641 ENSG00000116641 HGNC:19190 DYRK1A gene DYRK1A Expert Review;Expert Review Green Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 PMID: 25707398;21294719;23160955;23099646 False 3 0;0;0 0.16 False ENSG00000157540 ENSG00000157540 HGNC:3091 EHMT1 gene EHMT1 Expert Review Green;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kleefstra syndrome PMID: 16826528 False 3 0;0;0 0.16 False ENSG00000181090 ENSG00000181090 HGNC:24650 FOXG1 gene FOXG1 Expert;Expert Review Green;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rett syndrome, congenital variant PMID: 21441262 False 3 0;0;0 0.16 False ENSG00000176165 ENSG00000176165 HGNC:3811 GABRA1 gene GABRA1 Expert;Expert list;Expert Review Green Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 611136;Epileptic encephalopathy, early infantile, 19;EPILEPTIC ENCEPHALOPATHY 11992121;21714819;16718694 False 3 0;0;0 0.16 False ENSG00000022355 ENSG00000022355 HGNC:4075 GABRB3 gene GABRB3 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, childhood absence, susceptibility to, 5;EPILEPTIC ENCEPHALOPATHIES;{Epilepsy,juvenilemyoclonic,susceptibilityto,8},607628{Epilepsy,juvenileabsence,susceptibilityto,2},607628{Epilepsy,idiopathicgeneralized,susceptibilityto,11},607628 Tanaka et al (2008) Am J Hum Genet 82: 1249_1261 False 3 0;0;0 0.16 False ENSG00000166206 ENSG00000166206 HGNC:4083 GABRG2 gene GABRG2 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy,generalized,withfebrileseizuresplus,type3;Febrile seizures, familial, 8;611277;Generalized Epilepsy with Febrile Seizures Plus;Epilepsy, generalized, with febrile seizures plus, type 3 27066572;11326275;11326274 False 3 0;0;0 0.16 False ENSG00000113327 ENSG00000113327 HGNC:4087 GNAO1 gene GNAO1 Expert Review Green;Radboud University Medical Center, Nijmegen Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EPILEPTIC ENCEPHALOPATHY;Epileptic encephalopathy, early infantile, 17 Nakamura (2013);Saitsu (2015) False 3 0;0;0 0.16 False ENSG00000087258 ENSG00000087258 HGNC:4389 GRIN1 gene GRIN1 Expert Review;Expert Review Green Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant;NDHMSD;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive;NDHMSR;Mental retardation, autosomal dominant 8;early onset epileptic encephalopathies;involuntary movements;severe developmental delay;intellectual disability;EPILEPTIC ENCEPHALOPATHY 25864721;23934111;21376300;28051072;27164704;28228639 False 3 0;0;0 0.16 False ENSG00000176884 ENSG00000176884 HGNC:4584 GRIN2A gene GRIN2A Expert;Expert Review Green;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, focal, with speech disorder and with or without mental retardation;EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS;LANDAU-KLEFFNER SYNDROME Lesca et al (2013) Nature Genet 45(9) 1061-1068 False 3 0;0;0 0.16 False ENSG00000183454 ENSG00000183454 HGNC:4585 GRIN2B gene GRIN2B Expert;Expert Review Green;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 6;Epileptic encephalopathy, early infantile, 27;EPILEPTIC ENCEPHALOPATHY;AUTISM Endele et al (2010) Nature Genet 42(11): 1021-1028 False 3 0;0;0 0.16 False ENSG00000273079 ENSG00000273079 HGNC:4586 HCN1 gene HCN1 Expert Review;Expert Review Green Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 24 Nava et al (2014) Nature Genet 46(6). 640-648 False 3 0;0;0 0.16 False ENSG00000164588 ENSG00000164588 HGNC:4845 IQSEC2 gene IQSEC2 Expert Review;Expert Review Green Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked 1 Shoubridge et al (2010) Nat Genet 42(6): 486-8 False 3 0;0;0 0.16 False ENSG00000124313 ENSG00000124313 HGNC:29059 KCNA2 gene KCNA2 Expert Review;Expert Review Green Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 32;EPILEPTIC ENCEPHALOPATHY Syrbe et al (2015) Nat Genet 47(4): 393-9 False 3 0;0;0 0.16 False ENSG00000177301 ENSG00000177301 HGNC:6220 KCNB1 gene KCNB1 Expert Review;Expert Review Green Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 26 Torkamani et al (2014) Ann. Neurol. 76: 529-540, 2014 False 3 0;0;0 0.16 False ENSG00000158445 ENSG00000158445 HGNC:6231 KCNJ10 gene KCNJ10 Expert;Expert Review Green Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE (SESAME);SESAME syndrome Scholl et al (2009) False 3 0;0;0 0.16 False ENSG00000177807 ENSG00000177807 HGNC:6256 KCNQ2 gene KCNQ2 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted BENIGN NEONATAL EPILEPSY TYPE 1 (EBN1);EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 (EIEE7);Epileptic encephalopathy, early infantile, 7;Myokymia;Seizures, benign neonatal, 1 Dedek et al (2003) Epilepsy Res 54: 21-27 False 3 0;0;0 0.16 False ENSG00000075043 ENSG00000075043 HGNC:6296 KCNQ3 gene KCNQ3 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Benign Familial Neonatal Seizures ;Seizures, benign neonatal, type 2 False 3 0;0;0 0.16 False ENSG00000184156 ENSG00000184156 HGNC:6297 KCNT1 gene KCNT1 Expert;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 615005;Epileptic encephalopathy, early infantile, 14;Epilepsy, nocturnal frontal lobe, 5;MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY;SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY 23086396 False 3 0;0;0 0.16 False ENSG00000107147 ENSG00000107147 HGNC:18865 KIF1BP gene KIF1BP Expert Review Green;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Goldberg-Shprintzen megacolon syndrome Brooks et al (2005) Am J Hum Genet 77: 120_126 False 3 0;0;0 0.16 False ENSG00000198954 ENSG00000198954 HGNC:23419 MAPK10 gene MAPK10 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic Encephalopathy;EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE PMID: 23329067 False 3 0;0;0 0.16 False ENSG00000109339 ENSG00000109339 HGNC:6872 MBD5 gene MBD5 Expert Review Green;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 1 Wagenstaller et al (2007) Am J Hum Genet 81: 768-779 False 3 0;0;0 0.16 False ENSG00000204406 ENSG00000204406 HGNC:20444 MECP2 gene MECP2 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Encephalopathy, neonatal severe;Angelman syndrome;Mental retardation, X-linked syndromic, Lubs type;Mental retardation, X-linked, syndromic 13;Rett syndrome Wan et al (1999) Am J Hum Genet 5: 1520_1529;Jedele (2007) Seminars in Pediatric Neurology 14(3)108-117;Ramocki et al (2009) Am J Med Genet Part A 152A: 1079_1088;Couvert et al (2001) Hum Mol Genet 10(9): 941-946 False 3 0;0;0 0.16 False ENSG00000169057 ENSG00000169057 HGNC:6990 MEF2C gene MEF2C Expert;Expert Review Green;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 20;MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS;Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Le Meur et al (2008) J Med Genet 47: 22-29 False 3 0;0;0 0.16 False ENSG00000081189 ENSG00000081189 HGNC:6996 NEXMIF gene NEXMIF Expert Review;Expert Review Green Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 98 PMID:23615299 False 3 0;0;0 0.16 False ENSG00000050030 ENSG00000050030 HGNC:29433 PCDH19 gene PCDH19 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 300088;Epileptic encephalopathy, early infantile, 9 19752159 False 3 0;0;0 0.16 False ENSG00000165194 ENSG00000165194 HGNC:14270 PIGA gene PIGA Expert Review;Expert Review Green Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-hypotonia-seizures syndrome 2 Johnston et al (2012) Am J Hum Genet 90, 295 300 False 3 0;0;0 0.16 False ENSG00000165195 ENSG00000165195 HGNC:8957 PLCB1 gene PLCB1 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Early Infantile Epileptic Encephalopathy, Autosomal Recessive;Epileptic encephalopathy, early infantile, 12 Kurian et al (2010) Brain 133: 2964_2970 False 3 0;0;0 0.16 False ENSG00000182621 ENSG00000182621 HGNC:15917 PNKP gene PNKP Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Early infantile epileptic encephalopathy type 10;Ataxia-oculomotor apraxia 4;Microcephaly, seizures, and developmental delay Shen et al (2010) Nature Genet 42(3): 245-251 False 3 0;0;0 0.16 False ENSG00000039650 ENSG00000039650 HGNC:9154 POLG gene POLG Expert;Expert Review Green;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4A (Alpers type);Mitochondrial DNA depletion syndrome 4B (MNGIE type);Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Naviaux & Nguyen (2004) Ann Neurol 55: 706-712;Goethem et al (2003) Eur J Hum Genet 11: 547-549;Goethen et al (2004) Neurology 63: 1251-1257 False 3 0;0;0 0.16 False ENSG00000140521 ENSG00000140521 HGNC:9179 PRRT2 gene PRRT2 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Convulsions, familial infantile, with paroxysmal choreoathetosis;Episodic kinesigenic dyskinesia 1;Seizures, benign familial infantile, 2;BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME Wan et al (2011) Brain 134: 3493_3501;Chen et al (2011) Nature Genet 43(12): 1252-1256;Heron et al (2012) Am J Hum Genet 90: 152_160 False 3 0;0;0 0.16 False ENSG00000167371 ENSG00000167371 HGNC:30500 PURA gene PURA Expert Review;Expert Review Green Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 31;INTELLECTUAL DISABILITY PMID:25342064;Lalani (2014) False 3 0;0;0 0.16 False ENSG00000185129 ENSG00000185129 HGNC:9701 QARS gene QARS Expert Review;Expert Review Green Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Zang et al (2014) AJHG 94, 547 558 False 3 0;0;0 0.16 False ENSG00000172053 ENSG00000172053 HGNC:9751 SCN1A gene SCN1A Eligibility statement exclusion criteria;Eligibility statement prior genetic testing;Expert;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, generalized, with febrile seizures plus, type 2;Febrile seizures, familial, 3A;604403;Generalized Epilepsy With Febrile Seizures Plus, Type 2;GEFSP2;607208;Dravet syndrome 10742094 False 3 0;0;0 0.16 False ENSG00000144285 ENSG00000144285 HGNC:10585 SCN1B gene SCN1B Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Generalized Epilepsy with Febrile Seizures Plus; Epilepsy, generalized, with febrile seizures plus, type 1;Epilepsy, generalized, with febrile seizures plus, type 1;604233 False 3 0;0;0 0.16 False ENSG00000105711 ENSG00000105711 HGNC:10586 SCN2A gene SCN2A Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Benign Familial Neonatal Infantile Seizures ;Early Infantile Epileptic Encephalopathy, Autosomal Dominant;Seizures, benign familial infantile, 3;Epileptic encephalopathy, early infantile, 11;BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES False 3 0;0;0 0.16 False ENSG00000136531 ENSG00000136531 HGNC:10588 SCN8A gene SCN8A Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cognitive impairment with or without cerebellar ataxia;Intellectual disability;Epileptic encephalopathy, early infantile, 13 Trudeau et al (2004) J Med Genet 43: 527_530;O'Brien and Meisler (2013) Frontiers in Genet 4(213): 1-9;Veeramah et al (2012) Am J Hum Genet 90: 502_510 False 3 0;0;0 0.16 False ENSG00000196876 ENSG00000196876 HGNC:10596 SETD5 gene SETD5 Expert Review;Expert Review Green Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 23 False 3 0;0;0 0.16 False ENSG00000168137 ENSG00000168137 HGNC:25566 SIK1 gene SIK1 Expert Review;Expert Review Green Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NEONATAL EPILEPSY SPECTRUM;Epileptic encephalopathy, early infantile, 30 PMID: 25839329 False 3 0;0;0 0.16 False ENSG00000142178 ENSG00000142178 HGNC:11142 SLC12A5 gene SLC12A5 Expert Review;Expert Review Green Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal epilepsy of infancy with migrating focal seizures (EIMFS) PMID: 26333769;24668262 False 3 0;0;0 0.16 False ENSG00000124140 ENSG00000124140 HGNC:13818 SLC13A5 gene SLC13A5 Expert Review;Expert Review Green Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 25 Thevenon et al (2014) AJHG 95, 113 120 False 3 0;0;0 0.16 False ENSG00000141485 ENSG00000141485 HGNC:23089 SLC16A2 gene SLC16A2 Expert Review Green;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Allan-Herndon-Dudley syndrome Maranduba et al (2006) J Med Genet 43: 457_460 False 3 0;0;0 0.16 False ENSG00000147100 ENSG00000147100 HGNC:10923 SLC25A22 gene SLC25A22 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 3 Molinari et al (2005) Am J Hum Genet 76: 334_339 False 3 0;0;0 0.16 False ENSG00000177542 ENSG00000177542 HGNC:19954 SLC2A1 gene SLC2A1 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Epilepsy,idiopathicgeneralized,suscpetibilityto,12};614847;606777;612126;Dystonia 9 22282645;20574033 False 3 0;0;0 0.16 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC6A1 gene SLC6A1 Expert Review;Expert Review Green Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Carvill et al (2015) Am J Hum Genet 96(5): 808-15 False 3 0;0;0 0.16 False ENSG00000157103 ENSG00000157103 HGNC:11042 SLC9A6 gene SLC9A6 Expert Review Green;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked syndromic, Christianson type Gilfillan et al (2008) Am J Hum Genet 82: 1003_1010 False 3 0;0;0 0.16 False ENSG00000198689 ENSG00000198689 HGNC:11079 SPTAN1 gene SPTAN1 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 5 Saitsu et al (2010) Am J Hum Genet 86: 881_891 False 3 0;0;0 0.16 False ENSG00000197694 ENSG00000197694 HGNC:11273 STX1B gene STX1B Expert Review;Expert Review Green Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 25362483 False 3 0;0;0 0.16 False ENSG00000099365 ENSG00000099365 HGNC:18539 STXBP1 gene STXBP1 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 4 Saitsu et al (2008) Nature Genet 40 (6): 782-788 False 3 0;0;0 0.16 False ENSG00000136854 ENSG00000136854 HGNC:11444 SYNGAP1 gene SYNGAP1 Expert;Expert Review Green;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 5 Hamden et al (2009) N Engl J Med 360: 599-605 False 3 0;0;0 0.16 False ENSG00000197283 ENSG00000197283 HGNC:11497 TCF4 gene TCF4 Expert;Expert Review Green;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pitt-Hopkins syndrome Zweier et al (2007) Am J Hum Genet 80: 994_1001 False 3 0;0;0 0.16 False ENSG00000196628 ENSG00000196628 HGNC:11634 UBE2A gene UBE2A Expert Review Green;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked syndromic, Nascimento-type Nascimento et al (2006) Am J Hum Genet 79: 549-555 False 3 0;0;0 0.16 False ENSG00000077721 ENSG00000077721 HGNC:12472 UBE3A gene UBE3A Expert;Expert Review Green;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Angelman syndrome Jedele (2007) Seminars in Pediatric Neurology 14(3)108-117;9887341;8988171;8988172;21974935;[7795645;2309780;12545427;18500341] False 3 0;0;0 0.16 False ENSG00000114062 ENSG00000114062 HGNC:12496 WDR45 gene WDR45 Expert Review;Expert Review Green Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Saitsu et al (2013) Nat Genet. 45(4):445-9 False 3 0;0;0 0.16 False ENSG00000196998 ENSG00000196998 HGNC:28912 WWOX gene WWOX Expert Review;Expert Review Green Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Tabarki (2015) Ben-Salam (2015) Mignot (2015) False 3 0;0;0 0.16 False ENSG00000186153 ENSG00000186153 HGNC:12799 ZEB2 gene ZEB2 Expert Review Green;UKGTN Epilepsy Plus Inherited Epilepsy Syndromes Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mowat-Wilson syndrome Dastot-Le Moal et al (2007) Hum Mut 28(4): 313-321 False 3 0;0;0 0.16 False ENSG00000169554 ENSG00000169554 HGNC:14881