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 AARS2 gene AARS2 Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 1 0;67;33 8.176 False ENSG00000124608 ENSG00000124608 HGNC:21022 ADGRV1 gene ADGRV1 Expert Review Red;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology Febrile seizures, familial, 4, 604352;Usher syndrome, type 2C, 605472;Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 False 1 0;100;0 8.176 False ENSG00000164199 ENSG00000164199 HGNC:17416 ADRA2B gene ADRA2B Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical myoclonus and epilepsy 11701600;18231815;24114805;31664034 False 1 0;67;33 8.176 False ENSG00000222040 ENSG00000274286 HGNC:282 AGMO gene AGMO Expert list;Expert Review Red Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal microcephaly;intellectual disability;epilepsy;generalized tonic-clonic seizures 31555905;27000257 False 1 0;100;0 8.176 False ENSG00000187546 ENSG00000187546 HGNC:33784 AKT1 gene AKT1 Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Proteus syndrome, somatic 176920 23992099;21793738 False 1 50;25;25 8.176 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000142208 ENSG00000142208 HGNC:391 ALG12 gene ALG12 Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ig 607143 False 1 0;33;67 8.176 False ENSG00000182858 ENSG00000182858 HGNC:19358 ALG2 gene ALG2 Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation type Ii, 607906;Myasthenic syndrome congenital 14 with tubular aggregates, 616228 12684507 False 1 0;33;67 8.176 False ENSG00000119523 ENSG00000119523 HGNC:23159 BCORL1 gene BCORL1 Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability and seizures;Shukla-Vernon syndrome, 301029 30941876;24123876 False 1 0;50;50 8.176 False ENSG00000085185 ENSG00000085185 HGNC:25657 BET1 gene BET1 Expert Review Red;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, MONDO:0005027 34779586 False 1 50;0;50 8.176 False ENSG00000105829 ENSG00000105829 HGNC:14562 CACNB4 gene CACNB4 Expert;Expert Review Red;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Epilepsy, idiopathic generalized, susceptibility to, 9} OMIM:607682;{Epilepsy, juvenile myoclonic, susceptibility to, 6} OMIM:607682;Episodic ataxia, type 5 OMIM:613855;Intellectual disability 20561025;20378313;10762541;32176688;25529582 False 1 0;27;73 8.176 False ENSG00000182389 ENSG00000182389 HGNC:1404 CAMK2G gene CAMK2G Expert Review Red;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early infantile epileptic encephalopathy 30109124;28388656 False 1 0;67;33 8.176 False ENSG00000148660 ENSG00000148660 HGNC:1463 CAMLG gene CAMLG Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIz, OMIM:620201 35262690 False 1 0;0;100 8.176 False ENSG00000164615 ENSG00000164615 HGNC:1471 CASR gene CASR NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899Hypercalciuric hypercalcemia{Calcium, serum level of} False 1 0;50;50 8.176 False ENSG00000036828 ENSG00000036828 HGNC:1514 CBL gene CBL Expert Review;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology 24463883 False 1 0;33;67 8.176 False ENSG00000110395 ENSG00000110395 HGNC:1541 CCDC186 gene CCDC186 Expert Review Red;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy 33259146;28600779 False 1 0;0;100 8.176 False ENSG00000165813 ENSG00000165813 HGNC:24349 CCND2 gene CCND2 Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 24705253 False 1 0;33;67 8.176 True ENSG00000118971 ENSG00000118971 HGNC:1583 CHMP3 gene CHMP3 Expert Review Red;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Complex spastic quadriplegia associated with developmental delay and seizures 35710109 False 1 0;0;0 8.176 False ENSG00000115561 ENSG00000115561 HGNC:29865 CHRM1 gene CHRM1 Expert Review Red;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental delay;intellectual disability, MONDO:0001071;autism 34212451;31981491;12483218 False 1 0;100;0 8.176 False ENSG00000168539 ENSG00000168539 HGNC:1950 CLCN2 gene CLCN2 Expert Review Red;Literature;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Epilepsy, juvenile myoclonic, susceptibility to, 8}, OMIM:607628;{Epilepsy, juvenile absence, susceptibility to, 2}, OMIM:607628;{Epilepsy, idiopathic generalized, susceptibility to, 11}, OMIM:607628 23707145;19191339;20037607;19710712 False 1 0;67;33 8.176 False ENSG00000114859 ENSG00000114859 HGNC:2020 CLCN6 gene CLCN6 Expert Review Red;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal 29667327;26658788;25794116 False 1 0;50;50 8.176 False ENSG00000011021 ENSG00000011021 HGNC:2024 CLN5 gene CLN5 Expert;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 1 0;33;67 8.176 False ENSG00000102805 ENSG00000102805 HGNC:2076 CPA6 gene CPA6 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, familial temporal lobe, 5 614417 AR, AD;Febrile seizures, familial, 11 614418 21922598;23105115 False 1 25;38;38 8.176 False ENSG00000165078 ENSG00000165078 HGNC:17245 CRH gene CRH Expert;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 1 0;17;83 8.176 False ENSG00000147571 ENSG00000147571 HGNC:2355 CSNK2A1 gene CSNK2A1 Expert Review Red;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Okur-Chung neurodevelopmental syndrome, OMIM:617062 30655572;27048600 False 1 0;67;33 8.176 False ENSG00000101266 ENSG00000101266 HGNC:2457 DMBX1 gene DMBX1 Expert Review Red;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal global developmental delay, intellectual disability, and epilepsy 25558065 False 1 0;67;33 8.176 False ENSG00000197587 ENSG00000197587 HGNC:19026 EIF2A gene EIF2A Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Seizures;ASD 31130284 False 1 0;0;100 8.176 False ENSG00000144895 ENSG00000144895 HGNC:3254 FIG4 gene FIG4 Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 1 0;67;33 8.176 False ENSG00000112367 ENSG00000112367 HGNC:16873 FTL gene FTL Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal L-ferritin deficiency, dominant and recessive 615604 23940258 False 1 0;50;50 8.176 False ENSG00000087086 ENSG00000087086 HGNC:3999 FUT2 gene FUT2 Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 39350204 False 1 0;0;0 8.176 False ENSG00000176920 ENSG00000176920 HGNC:4013 GAL gene GAL Expert Review Red;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Epilepsy, familial temporal lobe, 8 616461 25691535 False 1 0;67;33 8.176 False ENSG00000069482 ENSG00000069482 HGNC:4114 GATAD2B gene GATAD2B Expert Review;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology Willemsen et al (2013) J Med Genet 50:507 514 False 1 0;17;83 8.176 False ENSG00000143614 ENSG00000143614 HGNC:30778 GATM gene GATM Expert;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 3, OMIM:612718 26490222;11555793 False 1 0;14;86 8.176 False ENSG00000171766 ENSG00000171766 HGNC:4175 GLRB gene GLRB Expert;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 2, 614619 21391991 False 1 0;17;83 8.176 False ENSG00000109738 ENSG00000109738 HGNC:4329 GNB2 gene GNB2 Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sturge-Weber syndrome, somatic, mosaic, OMIM:185300 34124757 False 1 0;0;100 8.176 False ENSG00000172354 ENSG00000172354 HGNC:4398 IDH2 gene IDH2 Expert Review;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown D-2-hydroxyglutaric aciduria 2, 613657 20847235;24049096 False 1 25;75;0 8.176 True ENSG00000182054 ENSG00000182054 HGNC:5383 INO80 gene INO80 Expert Review Red;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual disability, epilepsy and primary microcephaly 25558065 False 1 0;33;67 8.176 False ENSG00000128908 ENSG00000128908 HGNC:26956 KCNH8 gene KCNH8 Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Familial Progressive Myoclonus Epilepsy 39156922 False 1 0;0;100 8.176 False ENSG00000183960 ENSG00000183960 HGNC:18864 KMT5B gene KMT5B Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 51, 617788 29276005;28191889 False 1 0;33;67 8.176 False ENSG00000110066 ENSG00000110066 HGNC:24283 LMNB2 gene LMNB2 Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal ?Epilepsy, progressive myoclonic, 9, OMIM:616540 16826530;25954030;33033404 False 1 0;33;67 8.176 False ENSG00000176619 ENSG00000176619 HGNC:6638 MAGI2 gene MAGI2 Expert Review Red;NHS GMS;UKGTN;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 15 617609;Infantile Spasms 18565486;27932480;21694734;31056551 False 1 55;9;36 8.176 False ENSG00000187391 ENSG00000187391 HGNC:18957 MAPK10 gene MAPK10 Expert;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic Encephalopathy;EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE 23329067 False 1 57;14;29 8.176 False ENSG00000109339 ENSG00000109339 HGNC:6872 MATN4 gene MATN4 Expert Review Red;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Global developmental delay, holoprosencephaly, microcephaly, lumbosacral myelomeningocele, epilepsy, proptosis, and diabetes insipidus 25558065 False 1 0;33;67 8.176 False ENSG00000124159 ENSG00000124159 HGNC:6910 MCM3AP gene MCM3AP Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 618124 32202298 False 1 0;0;100 8.176 False ENSG00000160294 ENSG00000160294 HGNC:6946 MT-CO3 gene MT-CO3 Expert Review Red;Literature Early onset or syndromic epilepsy Neurology MITOCHONDRIAL seizures 8739943;12915481 False 1 0;0;0 8.176 False ENSG00000198938 ENSG00000198938 HGNC:7422 MT-TL1 gene MT-TL1 Expert Review Red;NHS GMS;UKGTN;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MITOCHONDRIAL False 1 0;17;83 8.176 False ENSG00000209082 ENSG00000209082 HGNC:7490 MYO1H gene MYO1H Expert Review Red;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482 28779001 False 1 0;0;100 8.176 False ENSG00000174527 ENSG00000174527 HGNC:13879 NDUFA11 gene NDUFA11 Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology Mitochondrial complex I deficiency 252010 18306244 False 1 0;100;0 8.176 False ENSG00000174886 ENSG00000174886 HGNC:20371 NID1 gene NID1 Expert Review Red;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, focal epilepsy and hemiparesis 25558065 False 1 0;33;67 8.176 False ENSG00000116962 ENSG00000116962 HGNC:7821 NRAS gene NRAS Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 1 0;67;33 8.176 False ENSG00000213281 ENSG00000213281 HGNC:7989 PCDHB4 gene PCDHB4 Expert Review Red;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual disability, microcephaly and epilepsy 25558065 False 1 0;33;67 8.176 False ENSG00000081818 ENSG00000081818 HGNC:8689 PCLO gene PCLO Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 1 0;25;75 8.176 False ENSG00000186472 ENSG00000186472 HGNC:13406 PIK3CA gene PIK3CA Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501 22729224;22228622;22729223 False 1 33;67;0 8.176 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000121879 ENSG00000121879 HGNC:8975 PRDM8 gene PRDM8 Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal ?Epilepsy, progressive myoclonic, 10, 616640 22961547 False 1 0;50;50 8.176 False ENSG00000152784 ENSG00000152784 HGNC:13993 PRICKLE2 gene PRICKLE2 Expert;Expert Review Red;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 1 0;33;67 8.176 False ENSG00000163637 ENSG00000163637 HGNC:20340 PSMB8 gene PSMB8 Expert list;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 20534754 False 1 0;33;67 8.176 False ENSG00000204264 ENSG00000204264 HGNC:9545 PTCH1 gene PTCH1 Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 7, OMIM:610828 False 1 0;50;50 8.176 False ENSG00000185920 ENSG00000185920 HGNC:9585 RALGAPB gene RALGAPB Expert Review Red;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorders, autism 32853829 False 1 0;100;0 8.176 False ENSG00000170471 ENSG00000170471 HGNC:29221 RNU12 gene RNU12 Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal ?Spinocerebellar ataxia, autosomal recessive 33, OMIM:620208 27863452;33577674 False 1 0;0;100 8.176 False ENSG00000270022 ENSG00000276027 HGNC:19380 RNU5A-1 gene RNU5A-1 Expert Review Red;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, MONDO:0700092 40379786 False 1 0;0;0 8.176 False ENSG00000199568 ENSG00000199568 HGNC:10211 RTEL1 gene RTEL1 Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Familial Progressive Myoclonus Epilepsy 39156922 False 1 0;0;100 8.176 False ENSG00000258366 ENSG00000258366 HGNC:15888 RUBCN gene RUBCN Expert Review;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705 20826435 False 1 0;25;75 8.176 False ENSG00000145016 ENSG00000145016 HGNC:28991 SCN2B gene SCN2B Expert;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 1 0;17;83 8.176 False ENSG00000149575 ENSG00000149575 HGNC:10589 SCN9A gene SCN9A Expert;Expert Review Red;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;North West GLH;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, generalized, with febrile seizures plus, type 7 613863;Febrile seizures, familial, 3B 613863;{Dravet syndrome, modifier of} 607208 19763161;29500686;30834459;23895530;33216760 False 1 0;22;78 8.176 False ENSG00000169432 ENSG00000169432 HGNC:10597 SEC24D gene SEC24D Expert Review Red;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual disability and epilepsy 25558065 False 1 0;33;67 8.176 False ENSG00000150961 ENSG00000150961 HGNC:10706 SEC31A gene SEC31A Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 618651 30464055 False 1 0;100;0 8.176 False ENSG00000138674 ENSG00000138674 HGNC:17052 SHH gene SHH Expert Review Red;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 1 0;100;0 8.176 False ENSG00000164690 ENSG00000164690 HGNC:10848 SLC25A19 gene SLC25A19 Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Microcephaly, Amish type, 607196;Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 False 1 0;50;50 8.176 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC5A6 gene SLC5A6 Expert list;Expert Review Red;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973 27904971;31392107;31754459;23104561;29669219;35013551;38036278;38012394;37391029;31754459 False 1 25;0;75 8.176 False ENSG00000138074 ENSG00000138074 HGNC:11041 SLC6A19 gene SLC6A19 Expert Review;Expert Review Red;Literature;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Hartnup disorder, 234500 27604308;20399395;19335424;24596948;15592994 False 1 33;67;0 8.176 False ENSG00000174358 ENSG00000174358 HGNC:27960 SLC6A5 gene SLC6A5 Expert;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 3, 614618 False 1 0;43;57 8.176 False ENSG00000165970 ENSG00000165970 HGNC:11051 SLC7A6OS gene SLC7A6OS Expert Review Red;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic, 12 OMIM:619191 25803583;33085104 False 1 0;0;100 8.176 False ENSG00000103061 ENSG00000103061 HGNC:25807 SRPX2 gene SRPX2 Expert;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females ?Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, OMIM:300643 24179158;18718938;29663392;24995671;16497722 False 1 0;14;86 8.176 False ENSG00000102359 ENSG00000102359 HGNC:30668 STIL gene STIL Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Microcephaly 7, primary, 612703 False 1 0;50;50 8.176 False ENSG00000123473 ENSG00000123473 HGNC:10879 TGIF1 gene TGIF1 Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 4, 142946 False 1 0;50;50 8.176 False ENSG00000177426 ENSG00000177426 HGNC:11776 TUBA3E gene TUBA3E Expert Review Red;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Global developmental delay, primary microcephaly, lissencephaly, epilepsy 25558065 False 1 0;33;67 8.176 False ENSG00000152086 ENSG00000152086 HGNC:20765 TXN2 gene TXN2 Expert Review Red;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 29, 616811;infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy 26626369 False 1 0;0;0 8.176 False ENSG00000100348 ENSG00000100348 HGNC:17772 UNC13B gene UNC13B Expert Review Red;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted partial epilepsy, MONDO:0005384 33876820;35380625 False 1 0;0;100 8.176 False ENSG00000198722 ENSG00000198722 HGNC:12566 ZIC2 gene ZIC2 Expert Review Red;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 5, 609637 False 1 0;50;50 8.176 False ENSG00000043355 ENSG00000043355 HGNC:12873 SAMD12_TTTCA str SAMD12 Literature Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Epilepsy, familial adult myoclonic, 1, OMIM:601068;epilepsy, familial adult myoclonic, 1, MONDO:0010985 30194086;29507423;29939203;32203200 False 1 100;0;0 8.176 False ENSG00000177570 ENSG00000177570 HGNC:31750 8 118366902 118367003 TTTCA 0 100 STARD7_ATTTC str STARD7 Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, familial adult myoclonic, 2, OMIM:607876;epilepsy, familial adult myoclonic, 2, MONDO:0011930 31664034 False 1 100;0;0 8.176 False ENSG00000084090 ENSG00000084090 HGNC:18063 2 96197066 96197121 ATTTC 0 274