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 ABCA2 gene ABCA2 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with poor growth and with or without seizures or ataxia, OMIM:618808;Intellectual developmental disorder with poor growth and with or without seizures or ataxia, MONDO:0032930 30237576;29302074;31047799 False 2 33;67;0 8.176 False ENSG00000107331 ENSG00000107331 HGNC:32 ABI2 gene ABI2 Expert list;Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 40475134 False 2 100;0;0 8.176 False ENSG00000138443 ENSG00000138443 HGNC:24011 ADAM22 gene ADAM22 Expert list;Expert Review Amber Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal ?Epileptic encephalopathy, early infantile, 61 OMIM:617933;developmental and epileptic encephalopathy, 61 MONDO:0033370 27066583;30237576;15876356;31432233;33397806 False 2 33;67;0 8.176 False ENSG00000008277 ENSG00000008277 HGNC:201 ADAT3 gene ADAT3 Expert Review;Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, OMIM:615286 23620220;26842963;30296593;29796286 False 2 33;67;0 8.176 False ENSG00000213638 ENSG00000213638 HGNC:25151 ADD1 gene ADD1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Global developmental delay;Intellectual disability;Seizures;Ventriculomegaly;Abnormality of the corpus callosum 34906466 False 2 0;100;0 8.176 False ENSG00000087274 ENSG00000087274 HGNC:243 ADGRL1 gene ADGRL1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, OMIM:620065 35907405 False 2 0;100;0 8.176 False ENSG00000072071 ENSG00000072071 HGNC:20973 AIMP2 gene AIMP2 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 17, OMIM:618006;eukodystrophy, hypomyelinating, 17, MONDO:0054817 29215095;26795593;35140751;35568357;38374194 False 2 20;80;0 8.176 False ENSG00000106305 ENSG00000106305 HGNC:20609 AJAP1 gene AJAP1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 38985877 False 2 50;50;0 8.176 False ENSG00000196581 ENSG00000196581 HGNC:30801 AMACR gene AMACR Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Alpha-methylacyl-CoA racemase deficiency, OMIM:614307 37452652 False 2 100;0;0 8.176 False ENSG00000242110 ENSG00000242110 HGNC:451 ASTN1 gene ASTN1 Expert list;Expert Review Amber Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 29706646;27431290;26539891;41544630 False 2 67;0;33 8.176 False ENSG00000152092 ENSG00000152092 HGNC:773 ATP2B1 gene ATP2B1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 66, OMIM:619910 35358416;33057194;40834682 False 2 25;75;0 8.176 False ENSG00000070961 ENSG00000070961 HGNC:814 ATP5A1 gene ATP5A1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228;Combined oxidative phosphorylation deficiency 22, OMIM: 616045 False 2 0;67;33 8.176 False ENSG00000152234 ENSG00000152234 HGNC:823 ATP6AP2 gene ATP6AP2 Expert Review Amber;Literature;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic, Hedera type False 2 0;67;33 8.176 False ENSG00000182220 ENSG00000182220 HGNC:18305 BAIAP2 gene BAIAP2 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown developmental and epileptic encephalopathy, MONDO:0100620;classic lissencephaly, MONDO:0015146 30696821;38149472;41133935 False 2 50;50;0 8.176 False Other ENSG00000175866 ENSG00000175866 HGNC:947 BLOC1S1 gene BLOC1S1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal severe intellectual disability;severe global developmental delay;epilepsy 33875846 False 2 100;0;0 8.176 False ENSG00000135441 ENSG00000135441 HGNC:4200 BORCS5 gene BORCS5 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal arthrogryposis multiplex congenita, MONDO:0015168;neurodevelopmental disorder, MONDO:0700092 27435318;40385417;40621786 False 2 100;0;0 8.176 False ENSG00000165714 ENSG00000165714 HGNC:17950 BORCS8 gene BORCS8 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, OMIM:620987 38128568 False 2 50;50;0 8.176 False ENSG00000254901 ENSG00000254901 HGNC:37247 BSN gene BSN Expert Review Amber;Other Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 36600631;39616287;40393460 False 2 50;50;0 8.176 False ENSG00000164061 ENSG00000164061 HGNC:1117 CACNA1H gene CACNA1H Expert;Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology Hyperaldosteronism, familial, type IV 617027;{Epilepsy, childhood absence, susceptibility to, 6} 611942;{Epilepsy, idiopathic generalized, susceptibility to, 6} 611942 12891677;32227660;15048902 False 2 0;38;62 8.176 False ENSG00000196557 ENSG00000196557 HGNC:1395 CACNA2D1 gene CACNA2D1 Expert Review Amber;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Early onset developmental epilepsy 35293990;28097321 False 2 0;100;0 8.176 False ENSG00000153956 ENSG00000153956 HGNC:1399 CAMK2D gene CAMK2D Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 38272033 False 2 0;100;0 8.176 False ENSG00000145349 ENSG00000145349 HGNC:1462 CCDC88C gene CCDC88C Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Spinocerebellar ataxia 40 616053 AD;Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR 23042809;21031079 False 2 33;67;0 8.176 False ENSG00000015133 ENSG00000015133 HGNC:19967 CCT8 gene CCT8 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CCT8-related neurodevelopmental disorder with brain abnormalities 39480921 False 2 0;100;0 8.176 False ENSG00000156261 ENSG00000156261 HGNC:1623 CDC42BPB gene CDC42BPB Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chilton-Okur-Chung neurodevelopmental syndrome, OMIM:619841;Chilton-Okur-Chung neurodevelopmental syndrome, MONDO:0859239 32031333 False 2 0;100;0 8.176 False ENSG00000198752 ENSG00000198752 HGNC:1738 CELF4 gene CELF4 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 40108438 False 2 0;100;0 8.176 False ENSG00000101489 ENSG00000101489 HGNC:14015 CELSR3 gene CELSR3 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 34951123;38429302 False 2 100;0;0 8.176 False ENSG00000008300 ENSG00000008300 HGNC:3230 CLN6 gene CLN6 Expert;Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 6, 601780;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 21549341;31029456;31216804;30561534 False 2 0;33;67 8.176 False ENSG00000128973 ENSG00000128973 HGNC:2077 COG3 gene COG3 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIbb, OMIM:620546 37711075 False 2 0;100;0 8.176 False ENSG00000136152 ENSG00000136152 HGNC:18619 COG4 gene COG4 Expert Review Amber;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 IIj, OMIM:613489 False 2 0;100;0 8.176 False ENSG00000103051 ENSG00000103051 HGNC:18620 COG6 gene COG6 Expert Review Amber;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 Iil 614576 20605848 False 2 0;100;0 8.176 False ENSG00000133103 ENSG00000133103 HGNC:18621 COG8 gene COG8 Expert Review Amber;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 IIh 611182 28619360;17220172;17331980 False 2 0;100;0 8.176 False ENSG00000213380 ENSG00000213380 HGNC:18623 COLGALT1 gene COLGALT1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Brain small vessel disease 3, OMIM:618360 30412317;33709034;31759980 False 2 100;0;0 8.176 False ENSG00000130309 ENSG00000130309 HGNC:26182 COQ5 gene COQ5 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028;mitochondrial disease, MONDO:0044970 29044765;36266294;37599337;41199775 False 2 0;100;0 8.176 False ENSG00000110871 ENSG00000110871 HGNC:28722 COQ6 gene COQ6 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 6, 614650 False 2 0;100;0 8.176 False ENSG00000119723 ENSG00000119723 HGNC:20233 COX10 gene COX10 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 False 2 0;100;0 8.176 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX11 gene COX11 Expert Review Amber;NHS GMS Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275;Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 36030551;38068960 False 2 0;50;50 8.176 False ENSG00000166260 ENSG00000166260 HGNC:2261 COX15 gene COX15 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 21412973;12474143;15863660;15235026 False 2 0;100;0 8.176 False ENSG00000014919 ENSG00000014919 HGNC:2263 CPSF3 gene CPSF3 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures, OMIM:619876 35121750 False 2 0;100;0 8.176 False ENSG00000119203 ENSG00000119203 HGNC:2326 CSNK1G1 gene CSNK1G1 Expert Review;Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 24463883;33009664 False 2 0;14;86 8.176 False ENSG00000169118 ENSG00000169118 HGNC:2454 CTU2 gene CTU2 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal seizures;DREAM PL syndrome;Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 31301155 False 2 0;0;0 8.176 False ENSG00000174177 ENSG00000174177 HGNC:28005 CYP27A1 gene CYP27A1 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700;seizures;photosensitive epilepsy 18227423;22336472;24442603;29484516;2019602 False 2 25;50;25 8.176 False ENSG00000135929 ENSG00000135929 HGNC:2605 DALRD3 gene DALRD3 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal ?Developmental and epileptic encephalopathy 86, # 618910 32427860;39482881 False 2 0;100;0 8.176 False ENSG00000178149 ENSG00000178149 HGNC:25536 DENND5B gene DENND5B Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DENND5B associated neurodevelopmental disorder 38387458 False 2 0;100;0 8.176 False ENSG00000170456 ENSG00000170456 HGNC:28338 DHCR24 gene DHCR24 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Desmosterolosis, 602398 21559050;24961299 False 2 33;67;0 8.176 False ENSG00000116133 ENSG00000116133 HGNC:2859 DHCR7 gene DHCR7 Emory Genetics Laboratory;Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome, 270400 24920862;29226552;10807690 False 2 33;67;0 8.176 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHRSX gene DHRSX Expert Review Amber Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 1DD, OMIM:301133 38821050 False 2 20;20;60 8.176 False ENSG00000169084 ENSG00000169084 HGNC:18399 DHX16 gene DHX16 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuromuscular disease and ocular or auditory anomalies with or without seizures 618733 31256877 False 2 0;100;0 8.176 False ENSG00000204560 ENSG00000204560 HGNC:2739 DNAJC5 gene DNAJC5 Expert Review Amber;Literature;Other Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350;autosomal dominant Kufs disease;generalized tonic clonic seizures 22978711;29506599;22235333 False 2 0;0;0 8.176 False ENSG00000101152 ENSG00000101152 HGNC:16235 DPM2 gene DPM2 Expert Review Amber;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 Iu, OMIM:615042 23109149;26453362 False 2 33;67;0 8.176 True ENSG00000136908 ENSG00000136908 HGNC:3006 EFHC1 gene EFHC1 Expert list;Expert Review Amber;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, imprinted status unknown {Epilepsy, juvenile absence, susceptibility to, 1} 607631;{Myoclonic epilepsy, juvenile, susceptibility to, 1} 254770 17159113;18505993;15258581;19147686;28370826;29750216;31056551 False 2 17;17;67 8.176 True ENSG00000096093 ENSG00000096093 HGNC:16406 EIF2AK2 gene EIF2AK2 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, 618877 32197074 False 2 0;0;0 8.176 False ENSG00000055332 ENSG00000055332 HGNC:9437 EMX2 gene EMX2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Schizencephaly, OMIM:269160 8528262;9359037 False 2 40;60;0 8.176 False ENSG00000170370 ENSG00000170370 HGNC:3341 EXOC7 gene EXOC7 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Brain atrophy;Seizures;Developmental delay;Microcephaly 32103185 False 2 0;0;0 8.176 False ENSG00000182473 ENSG00000182473 HGNC:23214 FAM50A gene FAM50A Expert Review Amber;Literature 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) Mental retardation syndrome, X-linked, Armfield type, OMIM:300261;Armfield syndrome, MONDO:0010284 32703943 False 2 0;100;0 8.176 False ENSG00000071859 ENSG00000071859 HGNC:18786 FDFT1 gene FDFT1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Squalene synthase deficiency, 618156 29909962 False 2 50;50;0 8.176 False ENSG00000079459 ENSG00000079459 HGNC:3629 FH gene FH Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Fumarase deficiency, OMIM:606812 2314594;10805328;20301679;20549362;15221078;16151915 False 2 50;50;0 8.176 False ENSG00000091483 ENSG00000091483 HGNC:3700 FKRP gene FKRP Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153;seizures;Walker-warburg syndrome or muscle-eye-brain disease;Muscular dystrophy, congenital, 1c 14652796;23420653;11741828;11592034 False 2 33;33;33 8.176 False ENSG00000181027 ENSG00000181027 HGNC:17997 FSD1L gene FSD1L Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41720098;41720099 False 2 100;0;0 8.176 False ENSG00000106701 ENSG00000106701 HGNC:13753 GABRA3 gene GABRA3 Expert Review Amber;Literature 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) Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, OMIM:301091 41289009;29053855 False 2 100;0;0 8.176 False ENSG00000011677 ENSG00000011677 HGNC:4077 GCH1 gene GCH1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, B, 233910;seizures 7869202;17407085;12552057;7730309;31202265;18276179 False 2 33;67;0 8.176 False ENSG00000131979 ENSG00000131979 HGNC:4193 GFM1 gene GFM1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 1 609060 25852744;26937387;28216230;23430926;21986555;21119709 False 2 0;100;0 8.176 False ENSG00000168827 ENSG00000168827 HGNC:13780 GLI3 gene GLI3 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Greig cephalopolysyndactyly syndrome, OMIM:175700;Pallister-Hall syndrome, OMIM:146510 False 2 0;67;33 8.176 False ENSG00000106571 ENSG00000106571 HGNC:4319 GLRA1 gene GLRA1 Expert;Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia, hereditary 1, 149400;Hyperekplexia;developmental delay;infantile spasms and generalized tonic-clonic seizures 29602144;13594585;1352015 False 2 0;43;57 8.176 False ENSG00000145888 ENSG00000145888 HGNC:4326 GLYCTK gene GLYCTK Expert Review;Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal D-glyceric aciduria 220120 3588091;30637540;28462797;20949620;28190537 False 2 33;67;0 8.176 False ENSG00000168237 ENSG00000168237 HGNC:24247 GSS gene GSS Expert Review;Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Glutathione synthetase deficiency 266130; Hemolytic anemia due to glutathione synthetase deficiency 231900 26984560;11445798;15990954;26669244 False 2 33;67;0 8.176 False ENSG00000100983 ENSG00000100983 HGNC:4624 GTPBP3 gene GTPBP3 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 23, 616198 25434004 False 2 67;33;0 8.176 True ENSG00000130299 ENSG00000130299 HGNC:14880 GUF1 gene GUF1 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal ?Epileptic encephalopathy, early infantile, 40, 617065 26486472 False 2 0;100;0 8.176 False ENSG00000151806 ENSG00000151806 HGNC:25799 HCCS gene HCCS Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;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) Linear skin defects with multiple congenital anomalies 1, 309801 17033964 False 2 33;33;33 8.176 False ENSG00000004961 ENSG00000004961 HGNC:4837 HEATR5B gene HEATR5B Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal pontocerebellar hypoplasia, MONDO:0020135;intellectual disability, MONDO:0001071;seizures 33824466 False 2 0;100;0 8.176 False ENSG00000008869 ENSG00000008869 HGNC:29273 HLCS gene HLCS Expert;Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Holocarboxylase synthetase deficiency, 253270 22027809;27114915 False 2 14;29;57 8.176 False ENSG00000159267 ENSG00000159267 HGNC:4976 HOXA1 gene HOXA1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Athabaskan brainstem dysgenesis syndrome, 601536;Bosley-Salih-Alorainy syndrome, 601536 18412118;12833395 False 2 0;67;33 8.176 False ENSG00000105991 ENSG00000105991 HGNC:5099 HPRT1 gene HPRT1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Lesch-Nyhan syndrome, OMIM:300322 False 2 0;67;33 8.176 False ENSG00000165704 ENSG00000165704 HGNC:5157 HSPD1 gene HSPD1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 4, OMIM:612233 18571143;30083362 False 2 33;33;33 8.176 False ENSG00000144381 ENSG00000144381 HGNC:5261 ISPD gene ISPD Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643;Walker-Warburg syndrome 24120487 False 2 33;67;0 8.176 False ENSG00000214960 ENSG00000214960 HGNC:37276 JAKMIP1 gene JAKMIP1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, MONDO:0001071;seizures 29158550;26627310;27799067 False 2 0;100;0 8.176 False ENSG00000152969 ENSG00000152969 HGNC:26460 JKAMP gene JKAMP Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41643666 False 2 100;0;0 8.176 False ENSG00000050130 ENSG00000050130 HGNC:20184 KATNB1 gene KATNB1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534 25521378;25521379;26640080 False 2 50;0;50 8.176 False ENSG00000140854 ENSG00000140854 HGNC:6217 KCNB2 gene KCNB2 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 38503299 False 2 0;100;0 8.176 False ENSG00000182674 ENSG00000182674 HGNC:6232 KDM2A gene KDM2A Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 41468891 False 2 100;0;0 8.176 False ENSG00000173120 ENSG00000173120 HGNC:13606 KIF1BP gene KIF1BP Expert Review Amber;NHS GMS;UKGTN;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Goldberg-Shprintzen megacolon syndrome 609460 15883926;28277559 False 2 67;33;0 8.176 True ENSG00000198954 ENSG00000198954 HGNC:23419 LARGE1 gene LARGE1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 24709677 False 2 33;67;0 8.176 False ENSG00000133424 ENSG00000133424 HGNC:6511 LIPT1 gene LIPT1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Lipoyltransferase 1 deficiency 616299 24341803;29681092;31042466;24256811;27247813 False 2 0;100;0 8.176 False ENSG00000144182 ENSG00000144182 HGNC:29569 LIPT2 gene LIPT2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 617668 28757203;28803783 False 2 0;67;33 8.176 False ENSG00000175536 ENSG00000175536 HGNC:37216 LMAN2L gene LMAN2L Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Epilepsy 31020005;26566883 False 2 0;100;0 8.176 False ENSG00000114988 ENSG00000114988 HGNC:19263 LMNB1 gene LMNB1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microcephaly 26, primary, autosomal dominant, OMIM:619179 32910914;33033404 False 2 0;100;0 8.176 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000113368 ENSG00000113368 HGNC:6637 LYST gene LYST Expert list;Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome 214500 False 2 33;67;0 8.176 True ENSG00000143669 ENSG00000143669 HGNC:1968 MANBA gene MANBA Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 2 0;100;0 8.176 False ENSG00000109323 ENSG00000109323 HGNC:6831 MAST1 gene MAST1 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Cerebellar hypoplasia, Abnormality of the cerebral cortex, Seizures;Global developmental delay, Intellectual disability, Microcephaly, Autism, Seizures 30449657;23934111 False 2 33;33;33 8.176 False ENSG00000105613 ENSG00000105613 HGNC:19034 MED17 gene MED17 Expert Review;Expert Review Amber;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Microcephaly, postnatal progressive, with seizures and brain atrophy, OMIM:613668 26004231;20950787;30345598 False 2 20;60;20 8.176 False ENSG00000042429 ENSG00000042429 HGNC:2375 MTR gene MTR Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anemia, cblG complementation type, 250940;methionine synthase deficiency type cblG;seizures 25526710;9453374;12068375;9683607;28666289 False 2 33;67;0 8.176 False ENSG00000116984 ENSG00000116984 HGNC:7468 NCDN gene NCDN Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability;epilepsy 33711248 False 2 0;100;0 8.176 False ENSG00000020129 ENSG00000020129 HGNC:17597 NDP gene NDP Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 2 0;67;33 8.176 False ENSG00000124479 ENSG00000124479 HGNC:7678 NDUFA2 gene NDUFA2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex I deficiency 256000 28857146;18513682 False 2 0;100;0 8.176 False ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFAF3 gene NDUFAF3 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency 252010 19463981 False 2 33;67;0 8.176 False ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF4 gene NDUFAF4 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 15, 618237 19463981;28853723 False 2 0;100;0 8.176 False ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFS1 gene NDUFS1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 11349233;20382551;25615419 False 2 33;67;0 8.176 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency 252010 23266820;22036843;20819849;11220739;14749350 False 2 33;67;0 8.176 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS6 gene NDUFS6 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency 252010 15372108;19259137;27290639 False 2 33;67;0 8.176 False ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFS7 gene NDUFS7 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 3, 618224 10330338;17604671;17275378;15269216 False 2 0;100;0 8.176 False ENSG00000115286 ENSG00000115286 HGNC:7714 NECAP1 gene NECAP1 Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 21, 615833;Early onset epileptic encephalopathy (EOEE) 24399846;30525121;30626896 False 2 12;25;62 8.176 False ENSG00000089818 ENSG00000089818 HGNC:24539 NRDC gene NRDC Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41734767 False 2 100;0;0 8.176 False ENSG00000078618 ENSG00000078618 HGNC:7995 NSF gene NSF Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 96, OMIM:619340 31675180;36645181 False 2 0;100;0 8.176 False ENSG00000073969 ENSG00000073969 HGNC:8016 NUBPL gene NUBPL Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency 252010 20818383;23553477 False 2 33;67;0 8.176 False ENSG00000151413 ENSG00000151413 HGNC:20278 OLA1 gene OLA1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, hypermobility type, MONDO:0007523;neurodevelopmental disorder, MONDO:0700092;microcephaly, MONDO:0001149 41887223 False 2 100;0;0 8.176 False ENSG00000138430 ENSG00000138430 HGNC:28833 OTX2 gene OTX2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 2 0;100;0 8.176 False ENSG00000165588 ENSG00000165588 HGNC:8522 PAK2 gene PAK2 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Knobloch 2 syndrome, OMIM:618458 33693784;40247748 False 2 100;0;0 8.176 False ENSG00000180370 ENSG00000180370 HGNC:8591 PARP6 gene PARP6 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;Epilepsy;Microcephaly 34067418 False 2 100;0;0 8.176 False ENSG00000137817 ENSG00000137817 HGNC:26921 PDSS2 gene PDSS2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 2 0;67;33 8.176 False ENSG00000164494 ENSG00000164494 HGNC:23041 PEX1 gene PEX1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 1A (Zellweger) 214100;Peroxisome biogenesis disorder 1B (NALD/IRD) 601539;Adrenoleukodystrophy 12402331;26387595;9398847;15098231;15301838;21844578;28432012;16141001 False 2 33;67;0 8.176 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 6A (Zellweger) 614870 20695019;28784167 False 2 33;67;0 8.176 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX12 gene PEX12 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3A (Zellweger) 614859 9090384;9354782 False 2 0;100;0 8.176 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11A (Zellweger) 614883 10332040;19449432 False 2 67;33;0 8.176 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX19 gene PEX19 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 12A (Zellweger) 614886 10051604;20683989 False 2 67;33;0 8.176 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5A (Zellweger) 614866 1546315;14630978;14630978 False 2 67;33;0 8.176 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX3 gene PEX3 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 10A (Zellweger) 614882 10958759;28673549 False 2 67;33;0 8.176 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger) 214110;Peroxisome biogenesis disorder 2B 202370;Rhizomelic chondrodysplasia punctata, type 5 616716 7719337;26220973 False 2 33;67;0 8.176 True ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger) 614862;Peroxisome biogenesis disorder 4B 614863 8670792;8940266;10408779 False 2 67;33;0 8.176 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 1 215100 12325024;9090381;11781871;10083738 False 2 0;100;0 8.176 False ENSG00000112357 ENSG00000112357 HGNC:8860 PIGS gene PIGS Expert list;Expert Review Amber Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 18 618143 30269814 False 2 100;0;0 8.176 False ENSG00000087111 ENSG00000087111 HGNC:14937 POLG2 gene POLG2 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528;Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 31286721;27592148;30157269;21555342 False 2 0;100;0 8.176 False ENSG00000256525 ENSG00000256525 HGNC:9180 POMT2 gene POMT2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 22700954 False 2 33;33;33 8.176 False ENSG00000009830 ENSG00000009830 HGNC:19743 PPP2R1A gene PPP2R1A Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Houge-Janssens syndrome 2, OMIM:616362;Houge-Janssens syndrome 2, MONDO:0014605 33106617 False 2 100;0;0 8.176 False ENSG00000105568 ENSG00000105568 HGNC:9302 PRICKLE1 gene PRICKLE1 Expert;Expert Review Amber;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1B, OMIM:612437 30564977;30345727;21276947;26727662;29790814;31875159;31035234;15634728;15642921;16376507;18976727;20301774 False 2 14;29;57 8.176 False ENSG00000139174 ENSG00000139174 HGNC:17019 PRMT9 gene PRMT9 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41260215 False 2 100;0;0 8.176 False ENSG00000164169 ENSG00000164169 HGNC:25099 PRODH gene PRODH Expert Review;Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Hyperprolinemia, type I, OMIM:239500;hyperprolinemia type 1, MONDO:0009400 12217952;17412540;18197084 False 2 33;67;0 8.176 False ENSG00000100033 ENSG00000100033 HGNC:9453 PSAT1 gene PSAT1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 2 0;67;33 8.176 False ENSG00000135069 ENSG00000135069 HGNC:19129 PSPH gene PSPH Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Phosphoserine phosphatase deficiency 614023 25080166;26589312;14673469 False 2 0;67;33 8.176 False ENSG00000146733 ENSG00000146733 HGNC:9577 PTF1A gene PTF1A Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Pancreatic and cerebellar agenesis, 609069 21749365;15543146;19650412 False 2 0;100;0 8.176 False ENSG00000168267 ENSG00000168267 HGNC:23734 PTPMT1 gene PTPMT1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 39279645 False 2 0;100;0 8.176 False ENSG00000110536 ENSG00000110536 HGNC:26965 QDPR gene QDPR Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, C, 261630;DHPR deficiency 9341885;26006720;25667865 False 2 33;67;0 8.176 False ENSG00000151552 ENSG00000151552 HGNC:9752 RAB11A gene RAB11A Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay, HP:0001263;Intellectual disability, HP:0001249;seizures 29100083;33875846 False 2 0;0;0 8.176 False ENSG00000103769 ENSG00000103769 HGNC:9760 RAB3GAP1 gene RAB3GAP1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology False 2 0;67;33 8.176 False ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Martsolf syndrome 1, OMIM:212720;Warburg micro syndrome 2, OMIM:614225 False 2 0;100;0 8.176 False ENSG00000118873 ENSG00000118873 HGNC:17168 RANBP2 gene RANBP2 Expert Review;Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Encephalopathy, acute, infection-induced, 3, susceptibility to}, OMIM:608033 19118815;34377735;36621064;38050538;40538544 False 2 20;60;20 8.176 False ENSG00000153201 ENSG00000153201 HGNC:9848 RNF2 gene RNF2 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown epilepsy;intellectual disability;intrauterine growth retardation 33864376 False 2 0;100;0 8.176 False ENSG00000121481 ENSG00000121481 HGNC:10061 RNU4ATAC gene RNU4ATAC Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710 21474761;23794361;22786707 False 2 33;33;33 8.176 False ENSG00000264229 ENSG00000264229 HGNC:34016 RPIA gene RPIA Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Ribose 5-phosphate isomerase deficiency, OMIM:608611 14988808;20499043;28801340;30088433 False 2 0;67;33 8.176 False ENSG00000153574 ENSG00000153574 HGNC:10297 RPS6KC1 gene RPS6KC1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41130203 False 2 100;0;0 8.176 False ENSG00000136643 ENSG00000136643 HGNC:10439 RRM2B gene RRM2B Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075;seizures;status epilepticus 28482374;29241262;19138848;17486094 False 2 50;50;0 8.176 True ENSG00000048392 ENSG00000048392 HGNC:17296 RUSC2 gene RUSC2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology Mental retardation, autosomal recessive 61 617773 27612186 False 2 0;75;25 8.176 False ENSG00000198853 ENSG00000198853 HGNC:23625 RYR2 gene RYR2 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ventricular tachycardia, catecholaminergic polymorphic, 1 604772 18483626;29667327;11208676;12093772;11157710;33897349 False 2 25;50;25 8.176 False ENSG00000198626 ENSG00000198626 HGNC:10484 RYR3 gene RYR3 Expert Review;Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal idiopathic(non-lesional) partial epilepsy/susceptibility of seizures 25262651;29667327;29498452;31230720;39220738;39840699 False 2 12;25;62 8.176 False ENSG00000198838 ENSG00000198838 HGNC:10485 SAMD12 gene SAMD12 Expert Review Amber;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;30351492 False 2 50;50;0 8.176 False Other ENSG00000177570 ENSG00000177570 HGNC:31750 SCO1 gene SCO1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 23878101;11013136;19295170;15023375 False 2 33;67;0 8.176 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCO2 gene SCO2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 10545952;10749987;18924171;15210538 False 2 33;67;0 8.176 False ENSG00000130489 ENSG00000130489 HGNC:10604 SDHA gene SDHA Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome 256000;Mitochondrial respiratory chain complex II deficiency 252011 24367056;16361598 False 2 33;67;0 8.176 False ENSG00000073578 ENSG00000073578 HGNC:10680 SIX3 gene SIX3 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 2 157170;Schizencephaly 269160 28670735;20157829;19346217;18791198 False 2 33;67;0 8.176 False ENSG00000138083 ENSG00000138083 HGNC:10889 SLC31A1 gene SLC31A1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092;Epilepsy, MONDO:0005027 35913762;36562171 False 2 0;100;0 8.176 False ENSG00000136868 ENSG00000136868 HGNC:11016 SLC35A1 gene SLC35A1 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIf, 603585;seizures 23873973;15576474;28856833;30115659;28856833 False 2 25;75;0 8.176 False ENSG00000164414 ENSG00000164414 HGNC:11021 SLC35A3 gene SLC35A3 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553 24031089;28328131;28777481;16344554 False 2 25;50;25 8.176 False ENSG00000117620 ENSG00000117620 HGNC:11023 SLC45A1 gene SLC45A1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with neuropsychiatric features 617532 28434495;27431290 False 2 0;100;0 8.176 False ENSG00000162426 ENSG00000162426 HGNC:17939 SNF8 gene SNF8 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 38423010 False 2 0;100;0 8.176 False ENSG00000159210 ENSG00000159210 HGNC:17028 SNX27 gene SNX27 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Generalized hypotonia;Global developmental delay;Intellectual disability;Seizures 25894286;31721175;21300787;23524343 False 2 25;75;0 8.176 False ENSG00000143376 ENSG00000143376 HGNC:20073 SPR gene SPR Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 16650784;21431957;28189489 False 2 25;75;0 8.176 False ENSG00000116096 ENSG00000116096 HGNC:11257 SPTBN4 gene SPTBN4 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519 28540413;28940097;29861105;31230720;31857255 False 2 100;0;0 8.176 False ENSG00000160460 ENSG00000160460 HGNC:14896 STARD7 gene STARD7 Expert Review Amber;Literature;Other 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 11701600;24114805;31664034 False 2 0;0;0 8.176 False ENSG00000084090 ENSG00000084090 HGNC:18063 SUCLG1 gene SUCLG1 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 28358460;27143079;26028457;27484306 False 2 33;67;0 8.176 False ENSG00000163541 ENSG00000163541 HGNC:11449 SYNCRIP gene SYNCRIP Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Autism;Myoclonic atonic seizures;Abnormality of nervous system morphology 34157790;30504930;27479843;23020937 False 2 0;100;0 8.176 False ENSG00000135316 ENSG00000135316 HGNC:16918 TANC2 gene TANC2 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with autistic features and language delay, with or without seizures, OMIM:618906;intellectual developmental disorder with autistic features and language delay, with or without seizures, MONDO:0030051 31616000;34861844;40110879 False 2 100;0;0 8.176 False ENSG00000170921 ENSG00000170921 HGNC:30212 TBC1D20 gene TBC1D20 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 4, 615663;seizures 24239381 False 2 33;67;0 8.176 False ENSG00000125875 ENSG00000125875 HGNC:16133 TCP1 gene TCP1 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021;intellectual developmental disorder with polymicrogyria and seizures, MONDO:0976124 39480921 False 2 100;0;0 8.176 False ENSG00000120438 ENSG00000120438 HGNC:11655 TEFM gene TEFM Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 58, OMIM:620451 36823193 False 2 50;50;0 8.176 False ENSG00000172171 ENSG00000172171 HGNC:26223 TELO2 gene TELO2 Expert Review;Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal You-Hoover-Fong syndrome 616954 27132593;28944240 False 2 0;100;0 8.176 False ENSG00000100726 ENSG00000100726 HGNC:29099 TET3 gene TET3 Expert Review Amber;Literature;NHS GMS Early onset or syndromic epilepsy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Beck-Fahrner syndrome OMIM:618798 31928709 False 2 33;67;0 8.176 False ENSG00000187605 ENSG00000187605 HGNC:28313 TMEM106B gene TMEM106B Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, hypomyelinating, 16, OMIM:617964;Leukodystrophy, hypomyelinating, 16, MONDO:0054791 29186371;29444210;32595021 False 2 0;100;0 8.176 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000106460 ENSG00000106460 HGNC:22407 TMEM70 gene TMEM70 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052;seizures 18953340;21147908;20335238;24485043 False 2 33;67;0 8.176 False ENSG00000175606 ENSG00000175606 HGNC:26050 TNK2 gene TNK2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal severe autosomal recessive infantile onset epilepsy;EE 27977884;23686771 False 2 33;67;0 8.176 False ENSG00000061938 ENSG00000061938 HGNC:19297 TRAF7 gene TRAF7 Expert Review;Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiac, facial, and digital anomalies with developmental delay, 618164;Global developmental delay;Abnormal heart morphology;Abnormality of digit;Abnormality of limbs 29961569;27479843;28135719;25363760;25961944 False 2 33;67;0 8.176 True ENSG00000131653 ENSG00000131653 HGNC:20456 TRAPPC6B gene TRAPPC6B Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, OMIM:617862 28626029;28397838;31687267 False 2 50;50;0 8.176 True ENSG00000182400 ENSG00000182400 HGNC:23066 TRIP13 gene TRIP13 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 3, 617598 False 2 0;100;0 8.176 False ENSG00000071539 ENSG00000071539 HGNC:12307 TRRAP gene TRRAP Expert Review;Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microcephaly;Seizures;Abnormal heart morphology;Autism;Developmental delay with or without dysmorphic facies and autism, 618454;Intellectual disability;Abnormality of the urinary system;Global developmental delay 30827496;28628100 False 2 25;75;0 8.176 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000196367 ENSG00000196367 HGNC:12347 TSEN15 gene TSEN15 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 2F, OMIM:617026 25558065;27392077 False 2 25;75;0 8.176 False ENSG00000198860 ENSG00000198860 HGNC:16791 TSEN2 gene TSEN2 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2B, 612389 False 2 33;67;0 8.176 True ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN34 gene TSEN34 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal ?Pontocerebellar hypoplasia type 2C, 612390 18711368;20952379 False 2 0;67;33 8.176 False ENSG00000170892 ENSG00000170892 HGNC:15506 TSFM gene TSFM Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3, 610505;seizures 17033963;21119709 False 2 33;67;0 8.176 False ENSG00000123297 ENSG00000123297 HGNC:12367 TUBA8 gene TUBA8 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 8, 613180;seizures 19896110;27781032;29588952;25008804;27781032;28007376 False 2 0;100;0 8.176 False ENSG00000183785 ENSG00000183785 HGNC:12410 TUBB gene TUBB Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 6, 615771 False 2 33;67;0 8.176 False ENSG00000196230 ENSG00000196230 HGNC:20778 TXNRD1 gene TXNRD1 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal genetic generalized epilepsy 28232204;18350150 False 2 0;100;0 8.176 False ENSG00000198431 ENSG00000198431 HGNC:12437 UFC1 gene UFC1 Expert Review;Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spasticity and poor growth, 618076 29868776;27431290 False 2 33;67;0 8.176 False ENSG00000143222 ENSG00000143222 HGNC:26941 USP7 gene USP7 Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hao-Fountain syndrome, 616863 19946331;26365382;30679821;33012787 False 2 25;75;0 8.176 True ENSG00000187555 ENSG00000187555 HGNC:12630 VLDLR gene VLDLR Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 27000652;27108886;27251579;16174313;16080122;18326629 False 2 0;100;0 8.176 False ENSG00000147852 ENSG00000147852 HGNC:12698 VPS50 gene VPS50 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Neonatal cholestatic liver disease;Failure to thrive;Profound global developmental delay;Postnatal microcephaly;Seizures;Abnormality of the corpus callosum 34037727 False 2 0;100;0 8.176 False ENSG00000004766 ENSG00000004766 HGNC:25956 WDR62 gene WDR62 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317 21834044;20890278;20729831;28377545;10573015;20890279;30500859 False 2 33;67;0 8.176 True ENSG00000075702 ENSG00000075702 HGNC:24502 WSB2 gene WSB2 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 40374945 False 2 100;0;0 8.176 False ENSG00000176871 ENSG00000176871 HGNC:19222 XK gene XK Expert list;Expert Review Amber 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) McLeod syndrome with or without chronic granulomatous disease, OMIM:300842;McLeod neuroacanthocytosis syndrome, MONDO:0018945 11761473;30128557;8004674;8619554 False 2 50;50;0 8.176 False ENSG00000047597 ENSG00000047597 HGNC:12811 YIF1B gene YIF1B Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology BIALLELIC, autosomal or pseudoautosomal Kaya-Barakat-Masson syndrome, OMIM:619125 32006098 False 2 0;100;0 8.176 False ENSG00000167645 ENSG00000167645 HGNC:30511 ZMIZ1 gene ZMIZ1 Expert Review;Expert Review Amber;Literature;NHS GMS;Wessex and West Midlands GLH Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Feeding difficulties;Growth abnormality;Microcephaly;Abnormality of the skeletal system;Abnormality of the urinary system;Abnormality of the cardiovascular system;Abnormality of head or neck;Seizures 18053775;27479843;29754769;17967885;26163108 False 2 0;100;0 8.176 False ENSG00000108175 ENSG00000108175 HGNC:16493 ZMYM2 gene ZMYM2 Expert Review Amber;Literature Early onset or syndromic epilepsy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522 32891193 False 2 33;67;0 8.176 False ENSG00000121741 ENSG00000121741 HGNC:12989