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 AARS gene AARS Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 29, MIM# 616339 Seizure;HP:0001250 28493438;25817015 False 3 100;0;0 1.108 True ENSG00000090861 ENSG00000090861 HGNC:20 ABAT gene ABAT Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal GABA-transaminase deficiency, MIM#613163 Seizure;HP:0001250 10407778;20052547;27596361;28411234 False 3 100;0;0 1.108 True ENSG00000183044 ENSG00000183044 HGNC:23 ABCA2 gene ABCA2 Expert Review;Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808 Seizure;HP:0001250 30237576;29302074;31047799 False 3 100;0;0 1.108 True ENSG00000107331 ENSG00000107331 HGNC:32 ACOX1 gene ACOX1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470;Mitchell syndrome, MIM# 618960 Seizure;HP:0001250 32169171;17458872 False 3 100;0;0 1.108 True ENSG00000161533 ENSG00000161533 HGNC:119 ACTB gene ACTB Expert Review;Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome 1 243310 Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475 Seizure;HP:0001250 (PMID:22366783,25052316,31970217) False 3 100;0;0 1.108 True ENSG00000075624 ENSG00000075624 HGNC:132 ACTG1 gene ACTG1 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Baraitser-Winter syndrome 2, MIM# 614583" Seizure;HP:0001250 22366783;25052316 False 3 100;0;0 1.108 True ENSG00000184009 ENSG00000184009 HGNC:144 ACTL6B gene ACTL6B Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Epileptic encephalopathy, early infantile, 76, MIM# 618468;Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470" Seizure;HP:0001250 31134736;31031012;30656450;30237576 False 3 100;0;0 1.108 True ENSG00000077080 ENSG00000077080 HGNC:160 ACY1 gene ACY1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aminoacylase 1 deficiency, MIM# 609924 Seizure;HP:0001250 (PMID: 16465618,16274666, 24117009) False 3 100;0;0 1.108 True ENSG00000243989 ENSG00000243989 HGNC:177 ADAM22 gene ADAM22 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 61 (MIM#617933) Seizure;HP:0001250 27066583;30237576;35373813 False 3 50;50;0 1.108 True ENSG00000008277 ENSG00000008277 HGNC:201 ADAR gene ADAR Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, MIM# 615010;Dyschromatosis symmetrica hereditaria, MIM# 127400 Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000160710 ENSG00000160710 HGNC:225 ADARB1 gene ADARB1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862;Intellectual disability;microcephaly;seizures Seizure;HP:0001250 32220291;32719099 False 3 100;0;0 1.108 True ENSG00000197381 ENSG00000197381 HGNC:226 ADGRG1 gene ADGRG1 Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, bilateral frontoparietal, MIM#606854 Seizure;HP:0001250 16240336;33299078 False 3 100;0;0 1.108 True ENSG00000205336 ENSG00000205336 HGNC:4512 ADNP gene ADNP Expert Review;Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Helsmoortel-van der Aa syndrome MIM#615873 Seizure;HP:0001250 (PMID: 27054228;24531329) False 3 100;0;0 1.108 True ENSG00000101126 ENSG00000101126 HGNC:15766 ADPRHL2 gene ADPRHL2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170) Seizure;HP:0001250 30100084;30401461 False 3 100;0;0 1.108 True ENSG00000116863 ENSG00000116863 HGNC:21304 ADSL gene ADSL Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Adenylosuccinase deficiency MIM#103050 Seizure;HP:0001250 1302001;22180458;18524658;27626380 False 3 100;0;0 1.108 True ENSG00000239900 ENSG00000239900 HGNC:291 AFF3 gene AFF3 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KINSSHIP syndrome, MIM# 619297;Intellectual disability;seizures;hypertrichosis Seizure;HP:0001250 31388108;33961779 False 3 100;0;0 1.108 True ENSG00000144218 ENSG00000144218 HGNC:6473 AGA gene AGA Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aspartylglucosaminuria, MIM# 208400 Seizure;HP:0001250 (PMID: 33439067;8333236;19175389;15036433;8064811;8946839;1756604) False 3 100;0;0 1.108 True ENSG00000038002 ENSG00000038002 HGNC:318 AGMO gene AGMO Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, AGMO-related Seizure;HP:0001250 31555905;27000257 False 3 100;0;0 1.108 True ENSG00000187546 ENSG00000187546 HGNC:33784 AGO1 gene AGO1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, MIM# 620292 Seizure;HP:0001250 35060114;30213762;25356899 False 3 100;0;0 1.108 True ENSG00000092847 ENSG00000092847 HGNC:3262 AIMP1 gene AIMP1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 3, MIM# 260600 Seizure;HP:0001250 21092922;24958424;33402283;32531460;30486714;30477741 False 3 100;0;0 1.108 True ENSG00000164022 ENSG00000164022 HGNC:10648 AJAP1 gene AJAP1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092, AJAP1-related Seizure;HP:0001250 38985877 False 3 100;0;0 1.108 True ENSG00000196581 ENSG00000196581 HGNC:30801 AKT1 gene AKT1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders Other Proteus syndrome, somatic, MIM# 176920 Seizure;HP:0001250 21793738 False 3 50;50;0 1.108 True ENSG00000142208 ENSG00000142208 HGNC:391 AKT3 gene AKT3 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MIM#615937 Seizure;HP:0001250 22729224 False 3 100;0;0 1.108 True Other ENSG00000117020 ENSG00000117020 HGNC:393 ALDH3A2 gene ALDH3A2 Expert Review;Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sjogren-Larsson syndrome, MIM# 270200 Seizure;HP:0001250 (PMID:32021380,30372562 False 3 100;0;0 1.108 True ENSG00000072210 ENSG00000072210 HGNC:403 ALDH5A1 gene ALDH5A1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Seizure;HP:0001250 9683595;14635103;32402538 False 3 100;0;0 1.108 True ENSG00000112294 ENSG00000112294 HGNC:408 ALDH7A1 gene ALDH7A1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, pyridoxine-dependent, MIM# 266100 Seizure;HP:0001250 33200442 False 3 100;0;0 1.108 True ENSG00000164904 ENSG00000164904 HGNC:877 ALG1 gene ALG1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ik, MIM# 608540 Seizure;HP:0001250 26931382 False 3 100;0;0 1.108 True ENSG00000033011 ENSG00000033011 HGNC:18294 ALG11 gene ALG11 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ip, MIM# 613661 Seizure;HP:0001250 30676690 False 3 100;0;0 1.108 True ENSG00000253710 ENSG00000253710 HGNC:32456 ALG13 gene ALG13 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy 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 (MIM# 300884) Seizure;HP:0001250 23033978;23934111;24781210;24896178;25732998;26138355;26482601;28940310;32238909 False 3 100;0;0 1.108 True ENSG00000101901 ENSG00000101901 HGNC:30881 ALG14 gene ALG14 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031;Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036 Seizure;HP:0001250 30221345;23404334;28733338 False 3 100;0;0 1.108 True ENSG00000172339 ENSG00000172339 HGNC:28287 ALG3 gene ALG3 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Id, MIM# 601110 Seizure;HP:0001250 31067009 False 3 100;0;0 1.108 True ENSG00000214160 ENSG00000214160 HGNC:23056 ALG6 gene ALG6 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ic (MIM#603147) Seizure;HP:0001250 10914684;27498540 False 3 100;0;0 1.108 True ENSG00000088035 ENSG00000088035 HGNC:23157 ALG8 gene ALG8 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ih, MIM# 608104 Seizure;HP:0001250 26066342;35716054 False 3 100;0;0 1.108 True ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Il, MIM#608776 Seizure;HP:0001250 28932688 False 3 100;0;0 1.108 True ENSG00000086848 ENSG00000086848 HGNC:15672 ALKBH8 gene ALKBH8 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Intellectual developmental disorder, autosomal recessive 71, MIM# 618504" Seizure;HP:0001250 31079898 False 3 0;100;0 1.108 True ENSG00000137760 ENSG00000137760 HGNC:25189 ALPL gene ALPL Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypophosphatasia, adult 146300 (AD, AR);Hypophosphatasia, childhood 241510 AR;Hypophosphatasia, infantile 241500 AR;Odontohypophosphatasia 146300 AD, AR Seizure;HP:0001250 19500388;23688511;3174660;1409720 False 3 100;0;0 1.108 True Other ENSG00000162551 ENSG00000162551 HGNC:438 AMACR gene AMACR Expert Review;Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Alpha-methylacyl-CoA racemase deficiency, MIM# 614307 Seizure;HP:0001250 35428665;21576695;11060344;21686617 False 3 100;0;0 1.108 True ENSG00000242110 ENSG00000242110 HGNC:451 AMPD2 gene AMPD2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Other;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 9, MIM#615809 Seizure;HP:0001250 23911318;27066553 False 3 100;0;0 1.108 True ENSG00000116337 ENSG00000116337 HGNC:469 AMT gene AMT Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy MIM#605899;disorder of glycine metabolism Seizure;HP:0001250 8188235;10873393;11592811 False 3 100;0;0 1.108 True ENSG00000145020 ENSG00000145020 HGNC:473 ANK2 gene ANK2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related Seizure;HP:0001250 PMID:37195288 False 3 100;0;0 1.108 True ENSG00000145362 ENSG00000145362 HGNC:493 ANKRD11 gene ANKRD11 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KBG syndrome, MIM#148050 Seizure;HP:0001250 29565525;30182498 False 3 100;0;0 1.108 True ENSG00000167522 ENSG00000167522 HGNC:21316 ANKRD17 gene ANKRD17 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chopra-Amiel-Gordan syndrome, MIM# 619504;Intellectual disability;dysmorphic features Seizure;HP:0001250 33909992 False 3 50;50;0 1.108 True ENSG00000132466 ENSG00000132466 HGNC:23575 ANO4 gene ANO4 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, ANO4-related Seizure;HP:0001250 38744284 False 3 100;0;0 1.108 True ENSG00000151572 ENSG00000151572 HGNC:23837 AP1G1 gene AP1G1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Usmani-Riazuddin syndrome, autosomal dominant, MIM# 619467;Usmani-Riazuddin syndrome, autosomal recessive, MIM# 619548;Neurodevelopmental disorder (NDD);Intellectual Disability;Epilepsy Seizure;HP:0001250 34102099 False 3 100;0;0 1.108 True ENSG00000166747 ENSG00000166747 HGNC:555 AP2M1 gene AP2M1 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual developmental disorder 60 with seizures, MIM# 618587" Seizure;HP:0001250 31104773 False 3 100;0;0 1.108 True ENSG00000161203 ENSG00000161203 HGNC:564 AP3B2 gene AP3B2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Early-onset epileptic encephalopathy with optic atrophy, MIM#617276 Seizure;HP:0001250 27889060 False 3 100;0;0 1.108 True ENSG00000103723 ENSG00000103723 HGNC:567 AP4B1 gene AP4B1 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 47, autosomal recessive, MIM# 614066 Seizure;HP:0001250 21620353;22290197;24700674;24781758;32166732 False 3 100;0;0 1.108 True ENSG00000134262 ENSG00000134262 HGNC:572 APC2 gene APC2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 10, MIM#618677 Seizure;HP:0001250 31585108 False 3 100;0;0 1.108 True ENSG00000115266 ENSG00000115266 HGNC:24036 ARF1 gene ARF1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periventricular nodular heterotopia 8, MIM# 618185 Seizure;HP:0001250 28868155;34353862 False 3 100;0;0 1.108 True ENSG00000143761 ENSG00000143761 HGNC:652 ARF3 gene ARF3 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (MONDO:0700092), ARF3-related;Global developmental delay;Intellectual disability;Seizures;Morphological abnormality of the central nervous system Seizure;HP:0001250 34346499;36369169 False 3 33;67;0 1.108 True ENSG00000134287 ENSG00000134287 HGNC:654 ARFGEF1 gene ARFGEF1 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964 Seizure;HP:0001250 34113008 False 3 100;0;0 1.108 True ENSG00000066777 ENSG00000066777 HGNC:15772 ARFGEF2 gene ARFGEF2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Periventricular heterotopia with microcephaly (MIM#608097) Seizure;HP:0001250 25160555;26126837;23812912 False 3 100;0;0 1.108 True ENSG00000124198 ENSG00000124198 HGNC:15853 ARG1 gene ARG1 Expert list;Expert Review Green;NHS GMS Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Argininemia, 207800 Seizure;HP:0001250 2365823;29726057 False 3 100;0;0 1.108 True ENSG00000118520 ENSG00000118520 HGNC:663 ARHGEF9 gene ARHGEF9 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy 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) Epileptic encephalopathy, early infantile, 8, MIM# 300607 Seizure;HP:0001250 31942680;30048823;29130122;28620718 False 3 100;0;0 1.108 True ENSG00000131089 ENSG00000131089 HGNC:14561 ARID1A gene ARID1A Expert Review;Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 2 #614607 Seizure;HP:0001250 (PMID:34942405;25168959;33303725;35571021;23906836;23929686) False 3 100;0;0 1.108 True ENSG00000117713 ENSG00000117713 HGNC:11110 ARID1B gene ARID1B Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 1 MIM#135900 Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000049618 ENSG00000049618 HGNC:18040 ARSA gene ARSA Expert Review;Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy - # 250100;Arylsulfatase A deficiency Seizure;HP:0001250 (PMID: 33195324;10987380;37359369;20301309;36324388;19021637) False 3 100;0;0 1.108 True ENSG00000100299 ENSG00000100299 HGNC:713 ARV1 gene ARV1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Developmental and epileptic encephalopathy 38, MIM# 617020" Seizure;HP:0001250 35227294;27270415;25558065 False 3 100;0;0 1.108 True ENSG00000173409 ENSG00000173409 HGNC:29561 ARX gene ARX Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy 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) Epileptic encephalopathy, early infantile, 1 MIM#308350;Hydranencephaly with abnormal genitalia MIM#300215;Lissencephaly, X-linked 2 MIM#300215;Mental retardation, X-linked 29 and others MIM#300419;Partington syndrome MIM#309510;Proud syndrome MIM#300004 Seizure;HP:0001250 14722918;19738637;32519823;28150386;21496008 False 3 100;0;0 1.108 True ENSG00000004848 ENSG00000004848 HGNC:18060 ASAH1 gene ASAH1 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 Seizure;HP:0001250 8955159;22703880;27026573 False 3 100;0;0 1.108 True ENSG00000104763 ENSG00000104763 HGNC:735 ASH1L gene ASH1L Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 52, MIM#617796 Seizure;HP:0001250 34373061;25961944;34782621;32469098 False 3 100;0;0 1.108 True ENSG00000116539 ENSG00000116539 HGNC:19088 ASNS gene ASNS Expert list;Expert Review Green;Literature;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Asparagine synthetase deficiency, MIM#615574;microcephaly;cerebral atrophy;drug-resistant epilepsy;axial hypotonia;progressive appendicular spasticity;abnormal myelination Seizure;HP:0001250 24139043;25227173;29279279;27469131;28776279;29375865;26318253 False 3 100;0;0 1.108 True Other ENSG00000070669 ENSG00000070669 HGNC:753 ASPA gene ASPA Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Canavan disease MIM#271900;disorder of amino acid metabolism Seizure;HP:0001250 8252036;8023850 False 3 100;0;0 1.108 True ENSG00000108381 ENSG00000108381 HGNC:756 ASPM gene ASPM ClinGen;Expert Review;Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Primary autosomal recessive Microcephaly 5 - OMIM #608716 Seizure;HP:0001250 (PMID:32239881;19770472;18452193;16141009) False 3 100;0;0 1.108 True ENSG00000066279 ENSG00000066279 HGNC:19048 ASTN1 gene ASTN1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;epilepsy;structural brain malformations Seizure;HP:0001250 29706646;27431290;26539891 False 3 100;0;0 1.108 True ENSG00000152092 ENSG00000152092 HGNC:773 ASXL3 gene ASXL3 ClinGen;Expert Review Green;Literature;NHS GMS Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bainbridge-Ropers syndrome, OMIM:615115 Seizure;HP:0001250 PMID:33151654;34436830;29367179 False 3 100;0;0 1.108 True ENSG00000141431 ENSG00000141431 HGNC:29357 ATAD1 gene ATAD1 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 4, MIM#618011 Seizure;HP:0001250 28180185;29390050;29659736 False 3 100;0;0 1.108 True ENSG00000138138 ENSG00000138138 HGNC:25903 ATN1 gene ATN1 Expert list;Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494 Seizure;HP:0001250 30827498 False 3 100;0;0 1.108 True ENSG00000111676 ENSG00000111676 HGNC:3033 ATP13A2 gene ATP13A2 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Kufor-Rakeb syndrome MIM#606693 Seizure;HP:0001250 30868101;21362476;31588715;22388936 False 3 100;0;0 1.108 True ENSG00000159363 ENSG00000159363 HGNC:30213 ATP1A1 gene ATP1A1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;seizures;hypomagnesaemia Seizure;HP:0001250 30388404 False 3 100;0;0 1.108 True ENSG00000163399 ENSG00000163399 HGNC:799 ATP1A2 gene ATP1A2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 98, MIM# 619605 Seizure;HP:0001250 33880529 False 3 100;0;0 1.108 True ENSG00000018625 ENSG00000018625 HGNC:800 ATP1A3 gene ATP1A3 Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted developmental and epileptic encephalopathy;early or neonatal onset seizures, polymicrogyria Seizure;HP:0001250 33880529 False 3 100;0;0 1.108 True ENSG00000105409 ENSG00000105409 HGNC:801 ATP2B1 gene ATP2B1 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 66, MIM# 619910 Seizure;HP:0001250 PMID: 35358416 False 3 100;0;0 1.108 True ENSG00000070961 ENSG00000070961 HGNC:814 ATP2B2 gene ATP2B2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related Seizure;HP:0001250 PMID: 37675773 False 3 100;0;0 1.108 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000157087 ENSG00000157087 HGNC:815 ATP5O gene ATP5O Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359 Seizure;HP:0001250 35621276;34954817 False 3 100;0;0 1.108 True ENSG00000241837 ENSG00000241837 HGNC:850 ATP6AP2 gene ATP6AP2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423 Seizure;HP:0001250 23595882 False 3 100;0;0 1.108 True Other ENSG00000182220 ENSG00000182220 HGNC:18305 ATP6V0A1 gene ATP6V0A1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 104 MIM#619970;Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971 Seizure;HP:0001250 PMID:34909687 False 3 50;50;0 1.108 True ENSG00000033627 ENSG00000033627 HGNC:865 ATP6V0A2 gene ATP6V0A2 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, type IIA,219200 Seizure;HP:0001250 18157129;22773132 False 3 100;0;0 1.108 True ENSG00000185344 ENSG00000185344 HGNC:18481 ATP6V0C gene ATP6V0C Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, early-onset, with or without developmental delay, MIM#620465;Epilepsy;Intellectual Disability;microcephaly Seizure;HP:0001250 33190975;33090716 False 3 50;50;0 1.108 True ENSG00000185883 ENSG00000185883 HGNC:855 ATP6V1A gene ATP6V1A Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epileptic encephalopathy, infantile or early childhood, 618012;Cutis laxa, type IID, 617403 Seizure;HP:0001250 29668857;28065471 False 3 100;0;0 1.108 True ENSG00000114573 ENSG00000114573 HGNC:851 ATP6V1B2 gene ATP6V1B2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy;Intellectual Disability;microcephaly, DOORS syndrome Seizure;HP:0001250 31655144;32934366;32597767 False 3 100;0;0 1.108 True ENSG00000147416 ENSG00000147416 HGNC:854 ATP7A gene ATP7A Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease MIM#309400 Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000165240 ENSG00000165240 HGNC:869 ATRX gene ATRX Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy 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) ATR-X-related syndrome MONDO:0016980 Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000085224 ENSG00000085224 HGNC:886 B3GALNT2 gene B3GALNT2 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 MIM#615181 Seizure;HP:0001250 PMID: 29791932, PMID: 29273094, PMID: 35127920 False 3 100;0;0 1.108 True ENSG00000162885 ENSG00000162885 HGNC:28596 BAP1 gene BAP1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Kury-Isidor syndrome , MIM#619762" Seizure;HP:0001250 PMID: 35051358 False 3 100;0;0 1.108 True ENSG00000163930 ENSG00000163930 HGNC:950 BCAS3 gene BCAS3 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hengel-Maroofian-Schols syndrome, MIM# 619641 Seizure;HP:0001250 34022130 False 3 100;0;0 1.108 True ENSG00000141376 ENSG00000141376 HGNC:14347 BCKDHA gene BCKDHA Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ia, MIM# 248600 Seizure;HP:0001250 34883003;34556729;34288399 False 3 100;0;0 1.108 True ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHB gene BCKDHB Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ib, MIM# 248600 Seizure;HP:0001250 34883003;34556729;34288399 False 3 100;0;0 1.108 True ENSG00000083123 ENSG00000083123 HGNC:987 BCKDK gene BCKDK Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Branched-chain keto acid dehydrogenase kinase deficiency MIM#614923" Seizure;HP:0001250 PMID: 22956686, PMID: 35216372, PMID: 36729635 False 3 100;0;0 1.108 True ENSG00000103507 ENSG00000103507 HGNC:16902 BCS1L gene BCS1L Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Literature;Royal Melbourne Hospital;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bjornstad syndrome, MIM# 262000;Leigh syndrome, MIM# 256000;BCS1L-related mitochondrial disease Seizure;HP:0001250 24172246;17314340;9545407 False 3 100;0;0 1.108 True ENSG00000074582 ENSG00000074582 HGNC:1020 BOLA3 gene BOLA3 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299 Seizure;HP:0001250 30302924;29654549;30302924 False 3 100;0;0 1.108 True ENSG00000163170 ENSG00000163170 HGNC:24415 BPTF gene BPTF Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755 Seizure;HP:0001250 33522091;28942966 False 3 100;0;0 1.108 True ENSG00000171634 ENSG00000171634 HGNC:3581 BRAF gene BRAF Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome, MIM# 115150 Seizure;HP:0001250 34309696 False 3 100;0;0 1.108 True ENSG00000157764 ENSG00000157764 HGNC:1097 BRAT1 gene BRAT1 Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 Seizure;HP:0001250 26483087;26494257;27282546 False 3 100;0;0 1.108 True ENSG00000106009 ENSG00000106009 HGNC:21701 BSCL2 gene BSCL2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Encephalopathy, progressive, with or without lipodystrophy, MIM#615924;Developmental and epileptic encephalopathy, BSCL2-related, dominant, MONDO:0100062 Seizure;HP:0001250 11479539;15181077;15126564;23564749;31369919;35290466 False 3 100;0;0 1.108 True ENSG00000168000 ENSG00000168000 HGNC:15832 BSN gene BSN Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy MONDO:0005027 Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000164061 ENSG00000164061 HGNC:1117 BTD gene BTD Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Biotinidase deficiency, MIM 253260 Seizure;HP:0001250 10801053;12359137;7550325 False 3 100;0;0 1.108 True ENSG00000169814 ENSG00000169814 HGNC:1122 C12orf57 gene C12orf57 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Temtamy syndrome MIM#218340 Seizure;HP:0001250 29383837;31853307 False 3 100;0;0 1.108 True ENSG00000111678 ENSG00000111678 HGNC:29521 C12orf66 gene C12orf66 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092 Seizure;HP:0001250 PMID: 39824192 False 3 100;0;0 1.108 True ENSG00000174206 ENSG00000174206 HGNC:26517 C2orf69 gene C2orf69 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423 Seizure;HP:0001250 34038740;33945503 False 3 100;0;0 1.108 True ENSG00000178074 ENSG00000178074 HGNC:26799 CACNA1A gene CACNA1A Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 42, MIM# 617106 Seizure;HP:0001250 34267336;27476654 False 3 67;33;0 1.108 True ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1B gene CACNA1B Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497" Seizure;HP:0001250 30982612 False 3 100;0;0 1.108 True ENSG00000148408 ENSG00000148408 HGNC:1389 CACNA1C gene CACNA1C Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029" Seizure;HP:0001250 34163037 False 3 100;0;0 1.108 True ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA1D gene CACNA1D Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary aldosteronism, seizures, and neurologic abnormalities MIM#615474 Seizure;HP:0001250 25620733;28472301;31139143 False 3 100;0;0 1.108 True ENSG00000157388 ENSG00000157388 HGNC:1391 CACNA1E gene CACNA1E Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 69, MIM#618285 Seizure;HP:0001250 30343943 False 3 100;0;0 1.108 True ENSG00000198216 ENSG00000198216 HGNC:1392 CACNA1G gene CACNA1G Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087 Seizure;HP:0001250 29878067 False 3 100;0;0 1.108 True ENSG00000006283 ENSG00000006283 HGNC:1394 CACNA1I gene CACNA1I Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with variable intellectual disability and speech impairment, with or without seizures (NEDISS), MIM#620114 Seizure;HP:0001250 33704440 False 3 100;0;0 1.108 True Other ENSG00000100346 ENSG00000100346 HGNC:1396 CACNA2D1 gene CACNA2D1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 110, MIM# 620149 Seizure;HP:0001250 35293990 False 3 50;0;50 1.108 True ENSG00000153956 ENSG00000153956 HGNC:1399 CACNA2D2 gene CACNA2D2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar atrophy with seizures and variable developmental delay MIM#618501 Seizure;HP:0001250 23339110;24358150;30410802;29997391;31402629;11487633;11756448;4177347;14660671;15331424 False 3 100;0;0 1.108 True ENSG00000007402 ENSG00000007402 HGNC:1400 CAD gene CAD Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Epileptic encephalopathy, early infantile, 50, MIM# 616457" Seizure;HP:0001250 28007989;25678555 False 3 100;0;0 1.108 True ENSG00000084774 ENSG00000084774 HGNC:1424 CAMK2A gene CAMK2A Expert Review Green;Literature;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal ?Mental retardation, autosomal recessive 63 MIM#618095;Mental retardation, autosomal dominant 53 MIM#617798 Seizure;HP:0001250 PMID: 32600977;29784083;29560374 False 3 100;0;0 1.108 True Other ENSG00000070808 ENSG00000070808 HGNC:1460 CAMK2B gene CAMK2B Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 54, MIM# 617799 Seizure;HP:0001250 29100089;29560374;32875707 False 3 100;0;0 1.108 True ENSG00000058404 ENSG00000058404 HGNC:1461 CAMSAP1 gene CAMSAP1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316 Seizure;HP:0001250 36283405 False 3 100;0;0 1.108 True ENSG00000130559 ENSG00000130559 HGNC:19946 CAPRIN1 gene CAPRIN1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, MIM# 620782;Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636" Seizure;HP:0001250 35979925;35977029;28135719;31398340 False 3 67;33;0 1.108 True ENSG00000135387 ENSG00000135387 HGNC:6743 CARS2 gene CARS2 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 27, MIM# 616672 Seizure;HP:0001250 25361775;25787132;30139652 False 3 100;0;0 1.108 True ENSG00000134905 ENSG00000134905 HGNC:25695 CASK gene CASK Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy 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) FG syndrome 4 MIM#300422;Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749;Mental retardation, with or without nystagmus MIM#300422 Seizure;HP:0001250 24278995 False 3 100;0;0 1.108 True ENSG00000147044 ENSG00000147044 HGNC:1497 CC2D2A gene CC2D2A Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 9, MIM#612285 Seizure;HP:0001250 18387594;18950740;18513680;18950740;19574260;21725307;33486889;30267408 False 3 100;0;0 1.108 True ENSG00000048342 ENSG00000048342 HGNC:29253 CCDC88A gene CCDC88A Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal PEHO syndrome-like, 617507 Seizure;HP:0001250 26917597;30392057 False 3 100;0;0 1.108 True ENSG00000115355 ENSG00000115355 HGNC:25523 CCDC88C gene CCDC88C Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Hydrocephalus, congenital, 1 MIM#236600" Seizure;HP:0001250 PMID: 29341397, PMID: 23042809, PMID: 21031079 False 3 50;50;0 1.108 True ENSG00000015133 ENSG00000015133 HGNC:19967 CCT3 gene CCT3 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MIM# 621034 Seizure;HP:0001250 39480921 False 3 100;0;0 1.108 True ENSG00000163468 ENSG00000163468 HGNC:1616 CDK13 gene CDK13 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder MIM#617360 Seizure;HP:0001250 PMID: 29021403, PMID: 35063350 False 3 100;0;0 1.108 True ENSG00000065883 ENSG00000065883 HGNC:1733 CDK19 gene CDK19 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual disability;epileptic encephalopathy;Epileptic encephalopathy, early infantile, 87, MIM# 618916" Seizure;HP:0001250 32330417 False 3 100;0;0 1.108 True ENSG00000155111 ENSG00000155111 HGNC:19338 CDKL5 gene CDKL5 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy 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) Developmental and epileptic encephalopathy 2, MIM# 300672 Seizure;HP:0001250 19793311 False 3 100;0;0 1.108 True ENSG00000008086 ENSG00000008086 HGNC:11411 CELF2 gene CELF2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 97, MIM#619561 Seizure;HP:0001250 33131106 False 3 100;0;0 1.108 True ENSG00000048740 ENSG00000048740 HGNC:2550 CEP85L gene CEP85L Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly, posterior predominant Seizure;HP:0001250 32097630 False 3 100;0;0 1.108 True ENSG00000111860 ENSG00000111860 HGNC:21638 CERS1 gene CERS1 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic, 8 MIM#616230 Seizure;HP:0001250 24782409;21625621;30800706 False 3 100;0;0 1.108 True ENSG00000223802 ENSG00000223802 HGNC:14253 CHD1 gene CHD1 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pilarowski-Bjornsson syndrome, MIM#617682 Seizure;HP:0001250 28866611 False 3 100;0;0 1.108 True ENSG00000153922 ENSG00000153922 HGNC:1915 CHD2 gene CHD2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, childhood-onset (MIM # 615369) Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000173575 ENSG00000173575 HGNC:1917 CHD3 gene CHD3 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Snijders Blok-Campeau syndrome MIM#618205 Seizure;HP:0001250 PMID: 32483341 False 3 100;0;0 1.108 True ENSG00000170004 ENSG00000170004 HGNC:1918 CHD4 gene CHD4 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sifrim-Hitz-Weiss syndrome, MIM# 617159;Childhood idiopathic epilepsy and sinus arrhythmia Seizure;HP:0001250 27479907;27616479;34109749 False 3 100;0;0 1.108 True ENSG00000111642 ENSG00000111642 HGNC:1919 CHD5 gene CHD5 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;Epilepsy Seizure;HP:0001250 33944996 False 3 100;0;0 1.108 True ENSG00000116254 ENSG00000116254 HGNC:16816 CHKA gene CHKA Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023 Seizure;HP:0001250 35202461 False 3 100;0;0 1.108 True ENSG00000110721 ENSG00000110721 HGNC:1937 CHRNA2 gene CHRNA2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, nocturnal frontal lobe, type 4 MIM#610353 Seizure;HP:0001250 16826524;25770198;30809122;25847220 False 3 100;0;0 1.108 True ENSG00000120903 ENSG00000120903 HGNC:1956 CHRNA4 gene CHRNA4 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, nocturnal frontal lobe, 1, MIM# 600513 Seizure;HP:0001250 14623738;23114665 False 3 100;0;0 1.108 True Other ENSG00000101204 ENSG00000101204 HGNC:1958 CHRNB2 gene CHRNB2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, nocturnal frontal lobe, 3, MIM# 605375 Seizure;HP:0001250 11062464;11104662;19153075;32536355;25770198;23032131 False 3 100;0;0 1.108 True ENSG00000160716 ENSG00000160716 HGNC:1962 CIC gene CIC Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 45, MIM# 617600 Seizure;HP:0001250 28288114 False 3 100;0;0 1.108 True ENSG00000079432 ENSG00000079432 HGNC:14214 CLCN3 gene CLCN3 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512;Neurodevelopmental disorder with seizures and brain abnormalities, MIM# 619517" Seizure;HP:0001250 34186028 False 3 100;0;0 1.108 True Other ENSG00000109572 ENSG00000109572 HGNC:2021 CLCN4 gene CLCN4 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy 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) Raynaud-Claes syndrome, MIM#300114;intellectual disability;epilepsy;autistic features;mood disorders;cerebral white matter changes;progressive appendicular spasticity Seizure;HP:0001250 27550844 False 3 100;0;0 1.108 True ENSG00000073464 ENSG00000073464 HGNC:2022 CLDN5 gene CLDN5 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic disorder, MONDO:0002254, CLDN5-related Seizure;HP:0001250 PMID: 36477332 False 3 100;0;0 1.108 True ENSG00000184113 ENSG00000184113 HGNC:2047 CLN3 gene CLN3 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 3, MIM# 204200;MONDO:0008767 Seizure;HP:0001250 7553855 False 3 100;0;0 1.108 True ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Ceroid lipofuscinosis, neuronal, 5, MIM# 256731" Seizure;HP:0001250 32983231;15728307;20157158 False 3 100;0;0 1.108 True ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 6, MIM# 601780;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300 Seizure;HP:0001250 11791207;11727201;21549341;33798445;33024953 False 3 100;0;0 1.108 True ENSG00000128973 ENSG00000128973 HGNC:2077 CLN8 gene CLN8 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 8, MIM# 600143;Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 Seizure;HP:0001250 10508524;15024724;16570191 False 3 100;0;0 1.108 True ENSG00000182372 ENSG00000182372 HGNC:2079 CLPB gene CLPB Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271;3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835 Seizure;HP:0001250 25597510;34140661 False 3 100;0;0 1.108 True ENSG00000162129 ENSG00000162129 HGNC:30664 CLTC gene CLTC Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 56, MIM# 617854 Seizure;HP:0001250 29100083;26822784 False 3 100;0;0 1.108 True ENSG00000141367 ENSG00000141367 HGNC:2092 CNKSR2 gene CNKSR2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy 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) Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008 Seizure;HP:0001250 34266427 False 3 100;0;0 1.108 True ENSG00000149970 ENSG00000149970 HGNC:19701 CNNM2 gene CNNM2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypomagnesemia 6, renal MIM#613882;Hypomagnesemia, seizures, and mental retardation MIM#616418 Seizure;HP:0001250 34604137;35170241 False 3 100;0;0 1.108 True ENSG00000148842 ENSG00000148842 HGNC:103 CNOT9 gene CNOT9 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092 Seizure;HP:0001250 PMID: 37092538 False 3 100;0;0 1.108 True ENSG00000144580 ENSG00000144580 HGNC:10445 CNPY3 gene CNPY3 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 60 (MIM 617929) Seizure;HP:0001250 29394991;30237576 False 3 100;0;0 1.108 True ENSG00000137161 ENSG00000137161 HGNC:11968 CNTN2 gene CNTN2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, MONDO:0015653, CNTN2-related;Epilepsy, myoclonic, familial adult, 5 MIM#615400 Seizure;HP:0001250 23518707;34120799;34691156 False 3 33;33;33 1.108 True ENSG00000184144 ENSG00000184144 HGNC:2172 CNTNAP2 gene CNTNAP2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia-focal epilepsy syndrome, MIM# 610042 Seizure;HP:0001250 16571880;19896112;27439707 False 3 100;0;0 1.108 True ENSG00000174469 ENSG00000174469 HGNC:13830 COG7 gene COG7 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIe , MIM#608779 Seizure;HP:0001250 15107842;17356545;28883096 False 3 100;0;0 1.108 True ENSG00000168434 ENSG00000168434 HGNC:18622 COL18A1 gene COL18A1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Knobloch syndrome, type 1, MIM# 267750 Seizure;HP:0001250 27259167;25456301 False 3 100;0;0 1.108 True ENSG00000182871 ENSG00000182871 HGNC:2195 COL3A1 gene COL3A1 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343 Seizure;HP:0001250 PMID: 28258187, PMID: 37393059, PMID: 28742248, PMID: 22235340 False 3 100;0;0 1.108 True ENSG00000168542 ENSG00000168542 HGNC:2201 COL4A1 gene COL4A1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773;Brain small vessel disease with or without ocular anomalies MIM#175780;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564 Seizure;HP:0001250 24628545;25719457;21625620;23225343;23065703;20818663;20301768 False 3 100;0;0 1.108 True ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A2 gene COL4A2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cerebral Palsy MONDO#0006497, COL4A2-related;Brain small vessel disease 2 MIM# 614483 Seizure;HP:0001250 33528536;33912663;22209246;30315939;22333902 False 3 100;0;0 1.108 True ENSG00000134871 ENSG00000134871 HGNC:2203 COL4A3BP gene COL4A3BP Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder 34 (MIM#616351) Seizure;HP:0001250 PMID: 36976648 False 3 100;0;0 1.108 True Other ENSG00000113163 ENSG00000113163 HGNC:2205 COQ2 gene COQ2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1, MIM# 607426;MONDO:0011829 Seizure;HP:0001250 16400613;17332895;17855635 False 3 100;0;0 1.108 True ENSG00000173085 ENSG00000173085 HGNC:25223 COQ4 gene COQ4 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7, MIM# 616276 Seizure;HP:0001250 25658047;26185144;33704555 False 3 100;0;0 1.108 True ENSG00000167113 ENSG00000167113 HGNC:19693 COQ8A gene COQ8A Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 4 MIM#612016 Seizure;HP:0001250 PMID 32337771 False 3 100;0;0 1.108 True ENSG00000163050 ENSG00000163050 HGNC:16812 COQ9 gene COQ9 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 5, MIM#614654 Seizure;HP:0001250 19375058;26081641;23255162;31821167 False 3 100;0;0 1.108 True ENSG00000088682 ENSG00000088682 HGNC:25302 COX11 gene COX11 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease (MONDO:0044970), COX11-related Seizure;HP:0001250 36030551 False 3 100;0;0 1.108 True ENSG00000166260 ENSG00000166260 HGNC:2261 CPLX1 gene CPLX1 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Epileptic encephalopathy, early infantile, 63, MIM# 617976" Seizure;HP:0001250 26539891;28422131 False 3 100;0;0 1.108 True ENSG00000168993 ENSG00000168993 HGNC:2309 CPSF3 gene CPSF3 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876 Seizure;HP:0001250 35121750 False 3 100;0;0 1.108 True ENSG00000119203 ENSG00000119203 HGNC:2326 CPT1A gene CPT1A Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal CPT deficiency, hepatic, type IA, MIM# 255120 Seizure;HP:0001250 12189492;33565078;34869124;20696606 False 3 67;33;0 1.108 True ENSG00000110090 ENSG00000110090 HGNC:2328 CPT2 gene CPT2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal CPT II deficiency, infantile 600649;CPT II deficiency, lethal neonatal 608836;CPT II deficiency, myopathic, stress-induced 255110 Seizure;HP:0001250 PMID: 20301431;35028265;36478999 False 3 100;0;0 1.108 True ENSG00000157184 ENSG00000157184 HGNC:2330 CRADD gene CRADD Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly, MIM# 614499 Seizure;HP:0001250 PMID: 27773430;30914828 False 3 50;50;0 1.108 True ENSG00000169372 ENSG00000169372 HGNC:2340 CREBBP gene CREBBP Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Menke-Hennekam syndrome 1, MIM# 618332" Seizure;HP:0001250 29460469 False 3 100;0;0 1.108 True ENSG00000005339 ENSG00000005339 HGNC:2348 CRELD1 gene CRELD1 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771 Seizure;HP:0001250 37947183 False 3 100;0;0 1.108 True ENSG00000163703 ENSG00000163703 HGNC:14630 CSF1R gene CSF1R Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Brain abnormalities, neurodegeneration, and dysosteosclerosis, (MIM#618476) Seizure;HP:0001250 PMID: 22197934;24336230;30982608;30982609 False 3 100;0;0 1.108 True ENSG00000182578 ENSG00000182578 HGNC:2433 CSMD1 gene CSMD1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Seizure;HP:0001250 PMID: 38816421 False 3 100;0;0 1.108 True ENSG00000183117 ENSG00000183117 HGNC:14026 CSNK2A1 gene CSNK2A1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Okur-Chung neurodevelopmental syndrome, MIM# 617062 Seizure;HP:0001250 PMID: 35679446;36588763 False 3 100;0;0 1.108 True ENSG00000101266 ENSG00000101266 HGNC:2457 CSNK2B gene CSNK2B Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732 Seizure;HP:0001250 34041744;28585349;28762608 False 3 100;0;0 1.108 True ENSG00000204435 ENSG00000204435 HGNC:2460 CSTB gene CSTB Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM# 254800 Seizure;HP:0001250 32920378;18028412 False 3 50;50;0 1.108 True ENSG00000160213 ENSG00000160213 HGNC:2482 CTNNA2 gene CTNNA2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 Seizure;HP:0001250 30013181 False 3 100;0;0 1.108 True ENSG00000066032 ENSG00000066032 HGNC:2510 CTSD gene CTSD Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 10, MIM# 610127;MONDO:0012414 Seizure;HP:0001250 16685649;16670177;25298308;33681191;29284168;27072142 False 3 100;0;0 1.108 True ENSG00000117984 ENSG00000117984 HGNC:2529 CTSF gene CTSF Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 13 (Kufs type) MIM#615362 Seizure;HP:0001250 PMID: 23297359;25274848;27668283;27524508;35139754 False 3 100;0;0 1.108 True ENSG00000174080 ENSG00000174080 HGNC:2531 CTU2 gene CTU2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142 Seizure;HP:0001250 PMID: 27480277;33559988 False 3 100;0;0 1.108 True ENSG00000174177 ENSG00000174177 HGNC:28005 CUL4B gene CUL4B Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 Seizure;HP:0001250 22182342;17236139 False 3 100;0;0 1.108 True ENSG00000158290 ENSG00000158290 HGNC:2555 CUX2 gene CUX2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 67, MIM#618141 Seizure;HP:0001250 2963073;29795476 False 3 100;0;0 1.108 True ENSG00000111249 ENSG00000111249 HGNC:19347 CWF19L1 gene CWF19L1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spinocerebellar ataxia, autosomal recessive 17, MIM# 616127" Seizure;HP:0001250 33012273;36453471;37752213 False 3 50;0;50 1.108 True ENSG00000095485 ENSG00000095485 HGNC:25613 CXorf56 gene CXorf56 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 107, MIM# 301013 Seizure;HP:0001250 29374277;31822863 False 3 100;0;0 1.108 True ENSG00000018610 ENSG00000018610 HGNC:26239 CYFIP2 gene CYFIP2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 65, MIM#618008 Seizure;HP:0001250 29534297 False 3 100;0;0 1.108 True ENSG00000055163 ENSG00000055163 HGNC:13760 CYP27A1 gene CYP27A1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis MIM#213700;Disorders of bile acid biosynthesis Seizure;HP:0001250 PMID: 16816916;20301583;22658436 False 3 100;0;0 1.108 True ENSG00000135929 ENSG00000135929 HGNC:2605 D2HGDH gene D2HGDH Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal D-2-hydroxyglutaric aciduria MIM#600721 Seizure;HP:0001250 25778941;31349060;15609246;20020533 False 3 100;0;0 1.108 True ENSG00000180902 ENSG00000180902 HGNC:28358 DBT gene DBT Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type II (MIM#248600) Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000137992 ENSG00000137992 HGNC:2698 DCX gene DCX Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy 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) Lissencephaly, X-linked, MIM# 300067;Subcortical laminal heterotopia, X-linked 300067 Seizure;HP:0001250 10915612;9489699;12552055 False 3 100;0;0 1.108 True ENSG00000077279 ENSG00000077279 HGNC:2714 DDC gene DDC Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency, MIM# 608643 Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000132437 ENSG00000132437 HGNC:2719 DDX3X gene DDX3X Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy 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) Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958 Seizure;HP:0001250 30266093;26235985;25533962;33528536;30936465;31274575;30817323 False 3 100;0;0 1.108 True ENSG00000215301 ENSG00000215301 HGNC:2745 DEAF1 gene DEAF1 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskinesia, seizures, and intellectual developmental disorder 617171;autosomal dominant mental retardation 24, MIM# 615828 Seizure;HP:0001250 30923367;26048982;28940898;26834045 False 3 100;0;0 1.108 True ENSG00000177030 ENSG00000177030 HGNC:14677 DEGS1 gene DEGS1 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy hypomyelinating 18, MIM#618404 Seizure;HP:0001250 31186544;30620337;30620338 False 3 100;0;0 1.108 True ENSG00000143753 ENSG00000143753 HGNC:13709 DENND5A gene DENND5A Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 49, MIM# 617281 Seizure;HP:0001250 27431290;27866705;32705489 False 3 100;0;0 1.108 True ENSG00000184014 ENSG00000184014 HGNC:19344 DEPDC5 gene DEPDC5 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Epilepsy, familial focal, with variable foci 1 MIM#604364;Developmental and epileptic encephalopathy 111, MIM# 620504" Seizure;HP:0001250 31444548;23542697;23542701 False 3 100;0;0 1.108 True ENSG00000100150 ENSG00000100150 HGNC:18423 DHCR24 gene DHCR24 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Desmosterolosis, MIM# 602398 Seizure;HP:0001250 33524375;21671375;12457401;29175559;21559050;29175559;11519011 False 3 100;0;0 1.108 True ENSG00000116133 ENSG00000116133 HGNC:2859 DHDDS gene DHDDS Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental delay and seizures with or without movement abnormalities, MIM#617836;Congenital disorder of glycosylation, MIM#613861 Seizure;HP:0001250 29100083;27343064 False 3 100;0;0 1.108 True ENSG00000117682 ENSG00000117682 HGNC:20603 DHPS gene DHPS Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480 Seizure;HP:0001250 30661771 False 3 100;0;0 1.108 True ENSG00000095059 ENSG00000095059 HGNC:2869 DHRSX gene DHRSX Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 1DD, MIM# 301133 Seizure;HP:0001250 38821050 False 3 100;0;0 1.108 True ENSG00000169084 ENSG00000169084 HGNC:18399 DHX16 gene DHX16 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuromuscular disease and ocular or auditory anomalies with or without seizures, MIM# 618733 Seizure;HP:0001250 PMID: 31256877;36211162 False 3 100;0;0 1.108 True ENSG00000204560 ENSG00000204560 HGNC:2739 DHX30 gene DHX30 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804 Seizure;HP:0001250 29100085 False 3 100;0;0 1.108 True ENSG00000132153 ENSG00000132153 HGNC:16716 DIAPH1 gene DIAPH1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seizures, cortical blindness, microcephaly syndrome, MIM# 616632 Seizure;HP:0001250 24781755;26463574;24781755;27808407;28003573;28815995 False 3 100;0;0 1.108 True ENSG00000131504 ENSG00000131504 HGNC:2876 DIP2C gene DIP2C Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO#0700092), DIP2C-related Seizure;HP:0001250 PMID: 38421105 False 3 50;50;0 1.108 True ENSG00000151240 ENSG00000151240 HGNC:29150 DLG4 gene DLG4 Expert Review Green;Literature;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 62 MIM#618793 Seizure;HP:0001250 33597769 False 3 100;0;0 1.108 True ENSG00000132535 ENSG00000132535 HGNC:2903 DLL1 gene DLL1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;autism;seizures;variable brain abnormalities;scoliosis Seizure;HP:0001250 31353024 False 3 100;0;0 1.108 True ENSG00000198719 ENSG00000198719 HGNC:2908 DMXL2 gene DMXL2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Epileptic encephalopathy, early infantile, 81, MIM# 618663" Seizure;HP:0001250 31688942;30237576 False 3 100;0;0 1.108 True ENSG00000104093 ENSG00000104093 HGNC:2938 DNAJC5 gene DNAJC5 ClinGen;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted adult neuronal ceroid lipofuscinosis (MONDO:0019260) Seizure;HP:0001250 22978711;21820099;22235333;31919451;26659577 False 3 100;0;0 1.108 True ENSG00000101152 ENSG00000101152 HGNC:16235 DNM1 gene DNM1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346;Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352 Seizure;HP:0001250 25262651;27066543;33372033;34172529 False 3 100;0;0 1.108 True ENSG00000106976 ENSG00000106976 HGNC:2972 DNM1L gene DNM1L Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388 (AD, AR) Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000087470 ENSG00000087470 HGNC:2973 DOCK7 gene DOCK7 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 23 MIM#615859;MONDO:0014371 Seizure;HP:0001250 24814191;30771731;30807358 False 3 100;0;0 1.108 True ENSG00000116641 ENSG00000116641 HGNC:19190 DOHH gene DOHH Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, DOHH-related (MONDO#0700092) Seizure;HP:0001250 PMID: 30661771;35858628 False 3 100;0;0 1.108 True ENSG00000129932 ENSG00000129932 HGNC:28662 DOLK gene DOLK Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type Im, 610768 Seizure;HP:0001250 23890587;28816422;24144945 False 3 100;0;0 1.108 True ENSG00000175283 ENSG00000175283 HGNC:23406 DPAGT1 gene DPAGT1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ij, MIM# 608093;DPAGT1-CDG MONDO:0011964 Seizure;HP:0001250 12872255;22492991;22304930;31153949;30653653;30117111 False 3 100;0;0 1.108 True ENSG00000172269 ENSG00000172269 HGNC:2995 DPM1 gene DPM1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie, 608799 Seizure;HP:0001250 23856421 False 3 100;0;0 1.108 True ENSG00000000419 ENSG00000000419 HGNC:3005 DPYD gene DPYD Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidine dehydrogenase deficiency, MIM# 274270 Seizure;HP:0001250 19296131;10071185;29152729 False 3 100;0;0 1.108 True ENSG00000188641 ENSG00000188641 HGNC:3012 DYNC1H1 gene DYNC1H1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 13, MIM# 614563 Seizure;HP:0001250 21820100;32788638;27549087;25512093;28196890 False 3 100;0;0 1.108 True ENSG00000197102 ENSG00000197102 HGNC:2961 DYRK1A gene DYRK1A Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 7, MIM# 614104;MONDO:0013578 Seizure;HP:0001250 25707398;21294719;23160955;23099646;33159716 False 3 100;0;0 1.108 True ENSG00000157540 ENSG00000157540 HGNC:3091 EARS2 gene EARS2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome MONDO:0009723;Combined oxidative phosphorylation deficiency 12 MIM#614924;leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971 Seizure;HP:0001250 22492562;23008233;25854774;26619324;26893310;27206875;27571996;27117034 False 3 100;0;0 1.108 True ENSG00000103356 ENSG00000103356 HGNC:29419 ECHS1 gene ECHS1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277 Seizure;HP:0001250 PMID: 29575569;35098523 False 3 100;0;0 1.108 True ENSG00000127884 ENSG00000127884 HGNC:3151 ECM1 gene ECM1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Urbach-Wiethe disease, MIM# 247100 Seizure;HP:0001250 PMID: 11929856;28434238 False 3 100;0;0 1.108 True ENSG00000143369 ENSG00000143369 HGNC:3153 EEF1A2 gene EEF1A2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 38, MIM# 616393;MONDO:0014617;Developmental and epileptic encephalopathy 33, MIM# 616409;MONDO:0014625 Seizure;HP:0001250 24697219;32196822;32160274;32062104;31893083 False 3 100;0;0 1.108 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000101210 ENSG00000101210 HGNC:3192 EEF1B2 gene EEF1B2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092;non-syndromic ID and seizures Seizure;HP:0001250 31845318;21937992;35015920 False 3 100;0;0 1.108 True ENSG00000114942 ENSG00000114942 HGNC:3208 EEFSEC gene EEFSEC Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related Seizure;HP:0001250 39753114 False 3 100;0;0 1.108 True ENSG00000132394 ENSG00000132394 HGNC:24614 EFTUD2 gene EFTUD2 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mandibulofacial dysostosis, Guion-Almeida type, MIM#610536 Seizure;HP:0001250 22305528;19334086 False 3 100;0;0 1.108 True ENSG00000108883 ENSG00000108883 HGNC:30858 EHMT1 gene EHMT1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kleefstra syndrome 1, MIM# 610253;MONDO:0027407 Seizure;HP:0001250 16826528;19264732;19293338;22670143;30448833 False 3 100;0;0 1.108 True ENSG00000181090 ENSG00000181090 HGNC:24650 EIF2AK2 gene EIF2AK2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MIM# 618877 Seizure;HP:0001250 PMID: 32197074 False 3 100;0;0 1.108 True ENSG00000055332 ENSG00000055332 HGNC:9437 EIF2B1 gene EIF2B1 Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter MIM#603896;Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related Seizure;HP:0001250 11835386;26285592;15776425;18263758;25843247;25761052;30014503;31882561 False 3 100;0;0 1.108 True ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B2 gene EIF2B2 Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, MIM#603896;Ovarioleukodystrophy, MIM# 603896 Seizure;HP:0001250 21484434;14566705;28041799;30266093;28597716 False 3 100;0;0 1.108 True ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B3 gene EIF2B3 Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal leukoencephalopathy with vanishing white matter MONDO:0011380 Seizure;HP:0001250 11835386;19158808;21484434;18263758;25843247;25761052;28904586;28597716 False 3 100;0;0 1.108 True ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B4 gene EIF2B4 Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal leukoencephalopathy with vanishing white matter MONDO:0011380 Seizure;HP:0001250 11835386;12707859;18263758;25843247;25761052;30014503 False 3 100;0;0 1.108 True ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal leukoencephalopathy with vanishing white matter MONDO:0011380 Seizure;HP:0001250 11704758;12325082;12707859;14694060;15136689;18263758;25843247;25761052 False 3 100;0;0 1.108 True ENSG00000145191 ENSG00000145191 HGNC:3261 EIF2S3 gene EIF2S3 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females MEHMO syndrome MIM# 300148 Seizure;HP:0001250 33714664;32799315;28055140 False 3 100;0;0 1.108 True ENSG00000130741 ENSG00000130741 HGNC:3267 EIF3F gene EIF3F Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Mental retardation, autosomal recessive 67, MIM# 618295" Seizure;HP:0001250 30409806 False 3 100;0;0 1.108 True ENSG00000175390 ENSG00000175390 HGNC:3275 EIF4A2 gene EIF4A2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MIM# 620455 Seizure;HP:0001250 PMID: 36528028 False 3 100;0;0 1.108 True Other ENSG00000156976 ENSG00000156976 HGNC:3284 ELOVL4 gene ELOVL4 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ichthyosis, spastic quadriplegia, and mental retardation (MIM#614457) Seizure;HP:0001250 22100072;24571530;33652762 False 3 100;0;0 1.108 True ENSG00000118402 ENSG00000118402 HGNC:14415 EMC1 gene EMC1 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, EMC1-related Seizure;HP:0001250 35234901;26942288 False 3 100;0;0 1.108 True ENSG00000127463 ENSG00000127463 HGNC:28957 EMC10 gene EMC10 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264 Seizure;HP:0001250 32869858;33531666 False 3 100;0;0 1.108 True ENSG00000161671 ENSG00000161671 HGNC:27609 EML1 gene EML1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Band heterotopia (MIM# 600348) Seizure;HP:0001250 31710781 False 3 100;0;0 1.108 True ENSG00000066629 ENSG00000066629 HGNC:3330 EP400 gene EP400 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder with or without early-onset generalized epilepsy - MONDO:0030930 Seizure;HP:0001250 39708813 False 3 100;0;0 1.108 True ENSG00000183495 ENSG00000183495 HGNC:11958 EPB41L3 gene EPB41L3 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:0030063 Seizure;HP:0001250 39292993 False 3 100;0;0 1.108 True ENSG00000082397 ENSG00000082397 HGNC:3380 EPG5 gene EPG5 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Vici syndrome, MIM# 242840 Seizure;HP:0001250 23222957;26917586 False 3 100;0;0 1.108 True ENSG00000152223 ENSG00000152223 HGNC:29331 EPM2A gene EPM2A Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lafora disease MONDO:0009697 Seizure;HP:0001250 9771710;9931343;11175283;12019207;12560877;14722920 False 3 100;0;0 1.108 True ENSG00000112425 ENSG00000112425 HGNC:3413 ESAM gene ESAM Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371 Seizure;HP:0001250 36996813 False 3 100;0;0 1.108 True ENSG00000149564 ENSG00000149564 HGNC:17474 ETHE1 gene ETHE1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ethylmalonic encephalopathy , MIM#602473 Seizure;HP:0001250 14732903;28933811 False 3 100;0;0 1.108 True ENSG00000105755 ENSG00000105755 HGNC:23287 EXOC7 gene EXOC7 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal brain atrophy;seizures;developmental delay;microcephaly Seizure;HP:0001250 PMID: 32103185 False 3 100;0;0 1.108 True ENSG00000182473 ENSG00000182473 HGNC:23214 EXOSC3 gene EXOSC3 Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, MIM# 614678 Seizure;HP:0001250 22544365;23284067;24524299 False 3 100;0;0 1.108 True ENSG00000107371 ENSG00000107371 HGNC:17944 EXT2 gene EXT2 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seizures, scoliosis, and macrocephaly syndrome, MIM#616682 Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000151348 ENSG00000151348 HGNC:3513 FA2H gene FA2H Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 35, autosomal recessive, MIM#611026 Seizure;HP:0001250 29423566 False 3 100;0;0 1.108 True ENSG00000103089 ENSG00000103089 HGNC:21197 FARS2 gene FARS2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal combined oxidative phosphorylation defect type 14 MONDO:0013986 Seizure;HP:0001250 30250868;30177229;29126765;28043061 False 3 100;0;0 1.108 True ENSG00000145982 ENSG00000145982 HGNC:21062 FASTKD2 gene FASTKD2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, MIM#220110 Seizure;HP:0001250 18771761;28499982;31944455;34234304 False 3 50;50;0 1.108 True ENSG00000118246 ENSG00000118246 HGNC:29160 FBXL4 gene FBXL4 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471 Seizure;HP:0001250 28940506 False 3 100;0;0 1.108 True ENSG00000112234 ENSG00000112234 HGNC:13601 FBXO11 gene FBXO11 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 Seizure;HP:0001250 30057029;29796876 False 3 100;0;0 1.108 True ENSG00000138081 ENSG00000138081 HGNC:13590 FBXO28 gene FBXO28 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 100, MIM# 619777 Seizure;HP:0001250 33280099 False 3 100;0;0 1.108 True ENSG00000143756 ENSG00000143756 HGNC:29046 FDFT1 gene FDFT1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Squalene synthase deficiency, MIM# 618156 Seizure;HP:0001250 29909962 False 3 50;50;0 1.108 True ENSG00000079459 ENSG00000079459 HGNC:3629 FGF12 gene FGF12 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 47, MIM# 617166 Seizure;HP:0001250 32645220;27164707;27830185;27872899 False 3 100;0;0 1.108 True ENSG00000114279 ENSG00000114279 HGNC:3668 FGF13 gene FGF13 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Developmental and epileptic encephalopathy 90, MIM# 301058;Intellectual disability;epilepsy Seizure;HP:0001250 33245860 False 3 100;0;0 1.108 True ENSG00000129682 ENSG00000129682 HGNC:3670 FGFR1 gene FGFR1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hartsfield syndrome (MIM#615465)" Seizure;HP:0001250 26937548;31512363;23812909;26931467 False 3 100;0;0 1.108 True ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR3 gene FGFR3 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypochondroplasia, MIM#146000 Seizure;HP:0001250 24630288;27485793;23649205;12794698 False 3 100;0;0 1.108 True ENSG00000068078 ENSG00000068078 HGNC:3690 FH gene FH Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fumarase deficiency, MIM#606812 Seizure;HP:0001250 20301679;10805328;20549362;15221078;16151915 False 3 100;0;0 1.108 True ENSG00000091483 ENSG00000091483 HGNC:3700 FKTN gene FKTN Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy MONDO:0018276 Seizure;HP:0001250 9690476;19017726;20301385;28680109 False 3 100;0;0 1.108 True ENSG00000106692 ENSG00000106692 HGNC:3622 FLNA gene FLNA Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy 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) "Heterotopia, periventricular, 1, MIM# 300049" Seizure;HP:0001250 30089473 False 3 100;0;0 1.108 True ENSG00000196924 ENSG00000196924 HGNC:3754 FLVCR1 gene FLVCR1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, FLVCR1-related Seizure;HP:0001250 39306721 False 3 100;0;0 1.108 True ENSG00000162769 ENSG00000162769 HGNC:24682 FOLR1 gene FOLR1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068 Seizure;HP:0001250 19732866;30420205;27743887 False 3 100;0;0 1.108 True ENSG00000110195 ENSG00000110195 HGNC:3791 FOXG1 gene FOXG1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rett syndrome, congenital variant, MIM# 613454 Seizure;HP:0001250 18571142;30842224 False 3 100;0;0 1.108 True ENSG00000176165 ENSG00000176165 HGNC:3811 FOXP1 gene FOXP1 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual developmental disorder with language impairment with or without autistic features, MIM# 613670" Seizure;HP:0001250 26633542;28741757;34109629 False 3 100;0;0 1.108 True ENSG00000114861 ENSG00000114861 HGNC:3823 FOXRED1 gene FOXRED1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000 Seizure;HP:0001250 20858599;20818383;31434271 False 3 100;0;0 1.108 True ENSG00000110074 ENSG00000110074 HGNC:26927 FRMD5 gene FRMD5 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094 Seizure;HP:0001250 36206744 False 3 100;0;0 1.108 True ENSG00000171877 ENSG00000171877 HGNC:28214 FRRS1L gene FRRS1L Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy, 37 MONDO:0014859 Seizure;HP:0001250 27236917;27239025;30692144 False 3 100;0;0 1.108 True ENSG00000260230 ENSG00000260230 HGNC:1362 FUCA1 gene FUCA1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Fucosidosis, MIM# 230000;MONDO:0009254 Seizure;HP:0001250 10094192 False 3 100;0;0 1.108 True ENSG00000179163 ENSG00000179163 HGNC:4006 FUK gene FUK Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324 Seizure;HP:0001250 30503518 False 3 100;0;0 1.108 True ENSG00000157353 ENSG00000157353 HGNC:29500 FUT8 gene FUT8 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation, 618005 Seizure;HP:0001250 29304374 False 3 100;0;0 1.108 True ENSG00000033170 ENSG00000033170 HGNC:4019 FZR1 gene FZR1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 109, MIM# 620145 Seizure;HP:0001250 34788397 False 3 100;0;0 1.108 True ENSG00000105325 ENSG00000105325 HGNC:24824 GABBR2 gene GABBR2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 59, MIM# 617904 Seizure;HP:0001250 29100083;25262651;28856709 False 3 100;0;0 1.108 True ENSG00000136928 ENSG00000136928 HGNC:4507 GABRA1 gene GABRA1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 19 615744;Rett syndrome;Rett-like phenotypes;idiopathic generalized Epilepsy;Dravet syndrome Seizure;HP:0001250 11992121;21714819;24623842;30842224 False 3 100;0;0 1.108 True ENSG00000022355 ENSG00000022355 HGNC:4075 GABRA2 gene GABRA2 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epileptic encephalopathy, early infantile, 78, MIM# 618557" Seizure;HP:0001250 29961870;31032849;29422393 False 3 100;0;0 1.108 True ENSG00000151834 ENSG00000151834 HGNC:4076 GABRA3 gene GABRA3 Expert Review Green;Literature Genetic Epilepsy 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) "Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091" Seizure;HP:0001250 PMID: 29053855 False 3 100;0;0 1.108 True ENSG00000011677 ENSG00000011677 HGNC:4077 GABRA4 gene GABRA4 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, GABRA4-related Seizure;HP:0001250 35152403;35781801 False 3 100;0;0 1.108 True ENSG00000109158 ENSG00000109158 HGNC:4078 GABRA5 gene GABRA5 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 79;OMIM #618559 Seizure;HP:0001250 31056671;29961870 False 3 100;0;0 1.108 True ENSG00000186297 ENSG00000186297 HGNC:4079 GABRB1 gene GABRB1 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epileptic encephalopathy, early infantile, 45, MIM# 617153" Seizure;HP:0001250 23934111;27273810;31618474 False 3 100;0;0 1.108 True ENSG00000163288 ENSG00000163288 HGNC:4081 GABRB2 gene GABRB2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829 Seizure;HP:0001250 27789573;29100083 False 3 100;0;0 1.108 True ENSG00000145864 ENSG00000145864 HGNC:4082 GABRB3 gene GABRB3 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 43, MIM# 617113 Seizure;HP:0001250 23934111;27476654 False 3 100;0;0 1.108 True ENSG00000166206 ENSG00000166206 HGNC:4083 GABRD gene GABRD Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;Epilepsy;Susceptibility to epilepsy, MIM#613060 Seizure;HP:0001250 15115768;34633442 False 3 100;0;0 1.108 True ENSG00000187730 ENSG00000187730 HGNC:4084 GABRG2 gene GABRG2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 74 618396;Epilepsy, generalized, with febrile seizures plus, type 3 607681 Seizure;HP:0001250 11326274;11326275;27864268 False 3 100;0;0 1.108 True ENSG00000113327 ENSG00000113327 HGNC:4087 GAD1 gene GAD1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 89, MIM# 619124 Seizure;HP:0001250 32282878 False 3 100;0;0 1.108 True ENSG00000128683 ENSG00000128683 HGNC:4092 GALC gene GALC Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Krabbe disease, MIM# 245200;MONDO:0009499 Seizure;HP:0001250 20886637 False 3 100;0;0 1.108 True ENSG00000054983 ENSG00000054983 HGNC:4115 GALNT2 gene GALNT2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation Seizure;HP:0001250 32293671 False 3 100;0;0 1.108 True ENSG00000143641 ENSG00000143641 HGNC:4124 GAMT gene GAMT Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 2 MIM#612736;Disorders of creatinine metabolism Seizure;HP:0001250 27604308;8651275 False 3 100;0;0 1.108 True ENSG00000130005 ENSG00000130005 HGNC:4136 GBA gene GBA Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Gaucher disease, perinatal lethal, MIM# 608013;Gaucher disease, type I, MIM# 230800;Gaucher disease, type II, MIM# 230900;Gaucher disease, type III, MIM# 231000;Gaucher disease, type IIIC, MIM# 231005 Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000177628 ENSG00000177628 HGNC:4177 GCDH gene GCDH Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutaric aciduria, type I MIM#231670 Seizure;HP:0001250 25875215 False 3 100;0;0 1.108 True ENSG00000105607 ENSG00000105607 HGNC:4189 GCH1 gene GCH1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910 Seizure;HP:0001250 7730309 False 3 100;0;0 1.108 True ENSG00000131979 ENSG00000131979 HGNC:4193 GCSH gene GCSH Expert Review Green;Literature;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423" Seizure;HP:0001250 36190515 False 3 33;0;67 1.108 True ENSG00000140905 ENSG00000140905 HGNC:4208 GFAP gene GFAP Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Alexander disease, MIM# 203450" Seizure;HP:0001250 11138011;12034785;31004048;15732097 False 3 100;0;0 1.108 True ENSG00000131095 ENSG00000131095 HGNC:4235 GFM1 gene GFM1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 1 MIM#609060 Seizure;HP:0001250 31680380;25852744;26937387 False 3 100;0;0 1.108 True ENSG00000168827 ENSG00000168827 HGNC:13780 GLB1 gene GLB1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal GM1-gangliosidosis, type I MIM#230500;GM1-gangliosidosis, type II MIM# 230600 Seizure;HP:0001250 24156116 False 3 100;0;0 1.108 True ENSG00000170266 ENSG00000170266 HGNC:4298 GLDC gene GLDC Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy (MIM#605899) Seizure;HP:0001250 27604308;2246863;1634607;27362913 False 3 100;0;0 1.108 True ENSG00000178445 ENSG00000178445 HGNC:4313 GLI3 gene GLI3 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pallister-Hall syndrome, MIM# 146510 Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000106571 ENSG00000106571 HGNC:4319 GLRA2 gene GLRA2 Expert Review;Expert Review Green Genetic Epilepsy 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) Intellectual developmental disorder, X-linked, syndromic, Pilorge type, MIM# 301076 Seizure;HP:0001250 35294868 False 3 100;0;0 1.108 True ENSG00000101958 ENSG00000101958 HGNC:4327 GLS gene GLS Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 71, MIM# 618328;Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685 Seizure;HP:0001250 30575854;38622440;37151363 False 3 100;0;0 1.108 True ENSG00000115419 ENSG00000115419 HGNC:4331 GLUD1 gene GLUD1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperinsulinism-hyperammonemia syndrome, MIM# 606762 Seizure;HP:0001250 11214910;11297618 False 3 100;0;0 1.108 True ENSG00000148672 ENSG00000148672 HGNC:4335 GLUL gene GLUL Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Glutamine deficiency, congenital MIM#610015;Developmental and epileptic encephalopathy 116, MIM# 620806 Seizure;HP:0001250 16267323;21353613;33150193 False 3 100;0;0 1.108 True ENSG00000135821 ENSG00000135821 HGNC:4341 GLYCTK gene GLYCTK Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal D-glyceric aciduria, MIM# 220120 Seizure;HP:0001250 3588091;30637540;28462797;20949620;28190537 False 3 100;0;0 1.108 True ENSG00000168237 ENSG00000168237 HGNC:24247 GM2A gene GM2A Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, AB variant MIM#272750 Seizure;HP:0001250 28417072;28192816;27402091;33819415 False 3 100;0;0 1.108 True ENSG00000196743 ENSG00000196743 HGNC:4367 GMPPB gene GMPPB Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350 Seizure;HP:0001250 30257713 False 3 100;0;0 1.108 True ENSG00000173540 ENSG00000173540 HGNC:22932 GNAI1 gene GNAI1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854 Seizure;HP:0001250 28135719;33473207 False 3 100;0;0 1.108 True ENSG00000127955 ENSG00000127955 HGNC:4384 GNAO1 gene GNAO1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 17;Neurodevelopmental disorder with involuntary movements Seizure;HP:0001250 28747448;30682224 False 3 100;0;0 1.108 True ENSG00000087258 ENSG00000087258 HGNC:4389 GNAQ gene GNAQ Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sturge-Weber syndrome, somatic, mosaic 185300 Seizure;HP:0001250 34124757;30920161 False 3 100;0;0 1.108 True Other ENSG00000156052 ENSG00000156052 HGNC:4390 GNB1 gene GNB1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 42, MIM# 616973 Seizure;HP:0001250 32134617 False 3 100;0;0 1.108 True ENSG00000078369 ENSG00000078369 HGNC:4396 GNB5 gene GNB5 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with cardiac arrhythmia, 617173;Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182;Early infantile epileptic encephalopathy (EIEE) Seizure;HP:0001250 27523599;27677260;28697420;29368331 False 3 100;0;0 1.108 True ENSG00000069966 ENSG00000069966 HGNC:4401 GOSR2 gene GOSR2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 6 , MIM#614018 Seizure;HP:0001250 21549339;24458321;30363482 False 3 100;0;0 1.108 True ENSG00000108433 ENSG00000108433 HGNC:4431 GOT2 gene GOT2 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Epileptic encephalopathy, early infantile, 82, MIM# 618721" Seizure;HP:0001250 31422819 False 3 100;0;0 1.108 True ENSG00000125166 ENSG00000125166 HGNC:4433 GPAA1 gene GPAA1 Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810 Seizure;HP:0001250 29100095 False 3 100;0;0 1.108 True ENSG00000197858 ENSG00000197858 HGNC:4446 GPHN gene GPHN Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Molybdenum cofactor deficiency C, MIM# 615501;Epilepsy;Autism;Intellectual disability Seizure;HP:0001250 22040219;11095995;26613940;24561070;23393157;34617111 False 3 100;0;0 1.108 True ENSG00000171723 ENSG00000171723 HGNC:15465 GPRC5B gene GPRC5B Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447 Seizure;HP:0001250 37143309 False 3 100;0;0 1.108 True ENSG00000167191 ENSG00000167191 HGNC:13308 GPT2 gene GPT2 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281 Seizure;HP:0001250 27601654;25758935;31471722 False 3 100;0;0 1.108 True ENSG00000166123 ENSG00000166123 HGNC:18062 GRIA2 gene GRIA2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual disability;autism;Rett-like features;epileptic encephalopathy;Neurodevelopmental disorder with language impairment and behavioral abnormalities, MIM# 618917" Seizure;HP:0001250 31300657 False 3 100;0;0 1.108 True ENSG00000120251 ENSG00000120251 HGNC:4572 GRIA3 gene GRIA3 Expert Review;Expert Review Green Genetic Epilepsy 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) Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699) Seizure;HP:0001250 32977175;17989220;38038360 False 3 100;0;0 1.108 True ENSG00000125675 ENSG00000125675 HGNC:4573 GRIA4 gene GRIA4 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864 Seizure;HP:0001250 35518358;29220673 False 3 100;0;0 1.108 True ENSG00000152578 ENSG00000152578 HGNC:4574 GRIK2 gene GRIK2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mental retardation, autosomal recessive, 6 MIM# 611092;Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580 Seizure;HP:0001250 34375587;17847003;25039795 False 3 100;0;0 1.108 True ENSG00000164418 ENSG00000164418 HGNC:4580 GRIN1 gene GRIN1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 101, MIM# 619814;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820 Seizure;HP:0001250 29365063;27164704;27164704;28051072;34611970 False 3 100;0;0 1.108 True ENSG00000176884 ENSG00000176884 HGNC:4584 GRIN2A gene GRIN2A Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570 Seizure;HP:0001250 30544257;35983985 False 3 100;0;0 1.108 True Other ENSG00000183454 ENSG00000183454 HGNC:4585 GRIN2B gene GRIN2B Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 6, MIM# 613970;Epileptic encephalopathy, early infantile, 27, MIM# 616139 Seizure;HP:0001250 28377535 False 3 100;0;0 1.108 True ENSG00000273079 ENSG00000273079 HGNC:4586 GRIN2D gene GRIN2D Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 46, MIM# 617162;intellectual disability Seizure;HP:0001250 27616483;30280376 False 3 100;0;0 1.108 True Other ENSG00000105464 ENSG00000105464 HGNC:4588 GRM7 gene GRM7 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, microcephaly, developmental delay;neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA), MIM#618922 Seizure;HP:0001250 32286009;32248644 False 3 100;0;0 1.108 True ENSG00000196277 ENSG00000196277 HGNC:4599 GRN gene GRN Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Ceroid lipofuscinosis, neuronal, 11 614706" Seizure;HP:0001250 PMID: 22608501;31855245 False 3 100;0;0 1.108 True ENSG00000030582 ENSG00000030582 HGNC:4601 GSS gene GSS Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutathione synthetase deficiency, MIM# 266130 Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000100983 ENSG00000100983 HGNC:4624 GTF3C3 gene GTF3C3 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092, GTF3C3-related Seizure;HP:0001250 PMID: 39636576 False 3 100;0;0 1.108 True ENSG00000119041 ENSG00000119041 HGNC:4666 GTPBP2 gene GTPBP2 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Jaberi-Elahi syndrome, MIM#617988 Seizure;HP:0001250 26675814;29449720 False 3 100;0;0 1.108 True ENSG00000172432 ENSG00000172432 HGNC:4670 GTPBP3 gene GTPBP3 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 23, MIM#616198 Seizure;HP:0001250 25434004 False 3 100;0;0 1.108 True ENSG00000130299 ENSG00000130299 HGNC:14880 H3F3A gene H3F3A Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;regression;seizures Seizure;HP:0001250 33268356 False 3 50;50;0 1.108 True ENSG00000163041 ENSG00000163041 HGNC:4764 H3F3B gene H3F3B Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;regression;seizures Seizure;HP:0001250 33268356 False 3 100;0;0 1.108 True ENSG00000132475 ENSG00000132475 HGNC:4765 HACE1 gene HACE1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia and psychomotor retardation with or without seizures, 616756;MONDO:0014764 Seizure;HP:0001250 26424145;26437029;31321300 False 3 100;0;0 1.108 True ENSG00000085382 ENSG00000085382 HGNC:21033 HAX1 gene HAX1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738;Kostmann syndrome MONDO:0012548 Seizure;HP:0001250 17187068;18611981;19036076 False 3 100;0;0 1.108 True ENSG00000143575 ENSG00000143575 HGNC:16915 HCFC1 gene HCFC1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 3 (methylmalonic acidaemia and homocysteinaemia, cblX type) MIM# 309541 Seizure;HP:0001250 34164576;24011988 False 3 100;0;0 1.108 True ENSG00000172534 ENSG00000172534 HGNC:4839 HCN1 gene HCN1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 24, MIM# 615871;Generalized epilepsy with febrile seizures plus, type 10, MIM# 618482 Seizure;HP:0001250 24747641;30351409;30351409 False 3 100;0;0 1.108 True ENSG00000164588 ENSG00000164588 HGNC:4845 HCN2 gene HCN2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Febrile seizures, familial, 2, MIM# 602477;Genetic epilepsy with febrile seizures plus;Other seizure disorders Seizure;HP:0001250 22131395;30986657;29064616;20437590;12514127;17931874 False 3 0;100;0 1.108 True ENSG00000099822 ENSG00000099822 HGNC:4846 HDAC3 gene HDAC3 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, HDAC3-related Seizure;HP:0001250 39047730 False 3 100;0;0 1.108 True ENSG00000171720 ENSG00000171720 HGNC:4854 HECTD1 gene HECTD1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092 Seizure;HP:0001250 PMID: 39879987 False 3 100;0;0 1.108 True ENSG00000092148 ENSG00000092148 HGNC:20157 HECW2 gene HECW2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM# 617268;intellectual disability;epilepsy;regression;microcephaly Seizure;HP:0001250 29807643;29395664;27334371;27389779 False 3 67;33;0 1.108 True Other ENSG00000138411 ENSG00000138411 HGNC:29853 HEPACAM gene HEPACAM Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM# 613925;Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, MIM# 613926 Seizure;HP:0001250 21419380;21419380 False 3 100;0;0 1.108 True ENSG00000165478 ENSG00000165478 HGNC:26361 HERC2 gene HERC2 Expert Review Green;Literature;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 38 (MIM 615516) Seizure;HP:0001250 23065719;23243086;30902390;32571899;27848944;26077850;27759030 False 3 100;0;0 1.108 True ENSG00000128731 ENSG00000128731 HGNC:4868 HEXA gene HEXA Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, several forms 272800;Tay-Sachs disease 272800 Seizure;HP:0001250 31388111 False 3 100;0;0 1.108 True ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800;MONDO:0010006 Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000049860 ENSG00000049860 HGNC:4879 HID1 gene HID1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Syndromic infantile encephalopathy;Hypopituitarism Seizure;HP:0001250 33999436 False 3 100;0;0 1.108 True ENSG00000167861 ENSG00000167861 HGNC:15736 HIVEP2 gene HIVEP2 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual developmental disorder, autosomal dominant 43, MIM# 616977" Seizure;HP:0001250 27003583 False 3 100;0;0 1.108 True ENSG00000010818 ENSG00000010818 HGNC:4921 HLCS gene HLCS Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Holocarboxylase synthetase deficiency, MIM# 253270 Seizure;HP:0001250 10190325 False 3 100;0;0 1.108 True ENSG00000159267 ENSG00000159267 HGNC:4976 HMGCL gene HMGCL Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HMG-CoA lyase deficiency, MIM# 246450 Seizure;HP:0001250 8617516 False 3 100;0;0 1.108 True ENSG00000117305 ENSG00000117305 HGNC:5005 HNRNPH2 gene HNRNPH2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy 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) Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986 Seizure;HP:0001250 34907471;33728377;31670473;31236915;30887513 False 3 100;0;0 1.108 True ENSG00000126945 ENSG00000126945 HGNC:5042 HNRNPR gene HNRNPR Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073 Seizure;HP:0001250 26795593;31079900 False 3 100;0;0 1.108 True ENSG00000125944 ENSG00000125944 HGNC:5047 HNRNPU gene HNRNPU Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 54 MIM# 617391 Seizure;HP:0001250 28944577;28393272 False 3 100;0;0 1.108 True ENSG00000153187 ENSG00000153187 HGNC:5048 HPDL gene HPDL Expert Review;Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026;Progressive neurological disorder;Leigh-like syndrome Seizure;HP:0001250 32707086 False 3 100;0;0 1.108 True ENSG00000186603 ENSG00000186603 HGNC:28242 HRAS gene HRAS Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Costello syndrome, MIM# 218040 Seizure;HP:0001250 16329078;16372351;16443854 False 3 100;0;0 1.108 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000174775 ENSG00000174775 HGNC:5173 HSD17B4 gene HSD17B4 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal D-bifunctional protein deficiency, AR (MIM#261515);Perrault syndrome 1, AR (MIM#233400) Seizure;HP:0001250 27790638 False 3 100;0;0 1.108 True ENSG00000133835 ENSG00000133835 HGNC:5213 HSPD1 gene HSPD1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 4, MIM# 612233 Seizure;HP:0001250 18571143;27405012;32532876;28377887;27405012;11898127;17420924 False 3 100;0;0 1.108 True ENSG00000144381 ENSG00000144381 HGNC:5261 HTRA2 gene HTRA2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIII, MIM# 617248 Seizure;HP:0001250 27208207;27696117 False 3 100;0;0 1.108 True ENSG00000115317 ENSG00000115317 HGNC:14348 IDH2 gene IDH2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted D-2-hydroxyglutaric aciduria 2, MIM# 613657 Seizure;HP:0001250 25778941;27142242;20847235;24049096 False 3 100;0;0 1.108 True ENSG00000182054 ENSG00000182054 HGNC:5383 IER3IP1 gene IER3IP1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231;Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647 Seizure;HP:0001250 21835305;22991235;24138066;28711742 False 3 100;0;0 1.108 True ENSG00000134049 ENSG00000134049 HGNC:18550 IFIH1 gene IFIH1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aicardi-Goutieres syndrome 7, MIM#615846 Seizure;HP:0001250 24686847;34185153 False 3 100;0;0 1.108 True Other ENSG00000115267 ENSG00000115267 HGNC:18873 IKBKG gene IKBKG Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy 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) Incontinentia pigmenti, MIM# 308300 Seizure;HP:0001250 31874111;35289316 False 3 100;0;0 1.108 True ENSG00000073009 ENSG00000269335 HGNC:5961 INPP4A gene INPP4A Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal INPP4A-related neurodevelopmental disorder Seizure;HP:0001250 PMID: 39315527 False 3 100;0;0 1.108 False ENSG00000040933 ENSG00000040933 HGNC:6074 IQSEC2 gene IQSEC2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy 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) "Intellectual developmental disorder, X-linked 1 MIM#309530, MONDO:0010656;Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347" Seizure;HP:0001250 31415821;20473311;30842726;33368194;23674175 False 3 100;0;0 1.108 True ENSG00000124313 ENSG00000124313 HGNC:29059 IRF2BPL gene IRF2BPL Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088 Seizure;HP:0001250 30057031;30166628 False 3 100;0;0 1.108 True ENSG00000119669 ENSG00000119669 HGNC:14282 ISCA1 gene ISCA1 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613" Seizure;HP:0001250 28356563;32092383;31016283;30113620;30105122 False 3 100;0;0 1.108 True ENSG00000135070 ENSG00000135070 HGNC:28660 ISPD gene ISPD Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643 Seizure;HP:0001250 28688748;30060766;22522420;24120487;35863218 False 3 67;33;0 1.108 True ENSG00000214960 ENSG00000214960 HGNC:37276 ITPA gene ITPA Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 35, MIM# 616647 Seizure;HP:0001250 26224535;19498443;35234647;35098521;27604308;12384777 False 3 100;0;0 1.108 True ENSG00000125877 ENSG00000125877 HGNC:6176 KANSL1 gene KANSL1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Koolen-De Vries syndrome MIM#610443 Seizure;HP:0001250 PMID: 28440867 False 3 100;0;0 1.108 True ENSG00000120071 ENSG00000120071 HGNC:24565 KARS gene KARS Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, progressive, infantile-onset, with or without deafness MIM#619147 Seizure;HP:0001250 26741492;31618474;28887846;25330800;29615062;30252186;28496994;23768514;14975237;33942428 False 3 100;0;0 1.108 True ENSG00000065427 ENSG00000065427 HGNC:6215 KAT5 gene KAT5 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103;Severe global developmental delay;Intellectual disability;Seizures;Microcephaly;Behavioral abnormality;Sleep disturbance;Morphological abnormality of the central nervous system;Short stature;Oral cleft;Abnormality of the face Seizure;HP:0001250 32822602 False 3 100;0;0 1.108 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000172977 ENSG00000172977 HGNC:5275 KAT6A gene KAT6A Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arboleda-Tham syndrome MIM#616268 Seizure;HP:0001250 PMID: 34748993 False 3 100;0;0 1.108 True ENSG00000083168 ENSG00000083168 HGNC:13013 KAT8 gene KAT8 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;seizures;autism;dysmorphic features;Li-Ghorbani-Weisz syndrome, MIM#618974 Seizure;HP:0001250 31794431 False 3 100;0;0 1.108 True ENSG00000103510 ENSG00000103510 HGNC:17933 KATNB1 gene KATNB1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lissencephaly 6, with microcephaly MIM#616212 Seizure;HP:0001250 PMID: 26640080 False 3 50;0;50 1.108 True ENSG00000140854 ENSG00000140854 HGNC:6217 KCNA1 gene KCNA1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy;seizures;epileptic encephalopathies;episodic ataxia type 1 and epilepsy Seizure;HP:0001250 PMID: 32316562 False 3 100;0;0 1.108 True ENSG00000111262 ENSG00000111262 HGNC:6218 KCNA2 gene KCNA2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Early infantile encephalopathy 32, MIM#616366 Seizure;HP:0001250 29050392 False 3 100;0;0 1.108 True ENSG00000177301 ENSG00000177301 HGNC:6220 KCNA3 gene KCNA3 Expert Review Green;Other Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, KCNA3-related Seizure;HP:0001250 37964487 False 3 100;0;0 1.108 True ENSG00000177272 ENSG00000177272 HGNC:6221 KCNB1 gene KCNB1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 26, MIM# 616056 Seizure;HP:0001250 31600826;31513310 False 3 100;0;0 1.108 True ENSG00000158445 ENSG00000158445 HGNC:6231 KCNC1 gene KCNC1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, progressive myoclonic 7 (MIM#616187);Intellectual disability;Movement disorders Seizure;HP:0001250 28145425;31353862;25401298 False 3 100;0;0 1.108 True ENSG00000129159 ENSG00000129159 HGNC:6233 KCNC2 gene KCNC2 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 103, MIM# 619913 Seizure;HP:0001250 32392612;31972370;35314505 False 3 50;50;0 1.108 True ENSG00000166006 ENSG00000166006 HGNC:6234 KCND1 gene KCND1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females neurodevelopmental disorder MONDO:0700092, KCND1-related Seizure;HP:0001250 38772379 False 3 100;0;0 1.108 True ENSG00000102057 ENSG00000102057 HGNC:6237 KCND2 gene KCND2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092;global developmental delay, HP:0001263;seizure, HP:0001250 Seizure;HP:0001250 24501278;16934482;29581270;34245260 False 3 100;0;0 1.108 True ENSG00000184408 ENSG00000184408 HGNC:6238 KCND3 gene KCND3 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 19, MIM#607346 Seizure;HP:0001250 32823520 False 3 100;0;0 1.108 True ENSG00000171385 ENSG00000171385 HGNC:6239 KCNH1 gene KCNH1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Temple-Baraitser syndrome, OMIM:611816 Zimmermann-Laband syndrome 1, OMIM:135500 Intellectual disability Encephalopathy without features of TBS/ZLS Seizure;HP:0001250 PMID: 33594261 False 3 100;0;0 1.108 True ENSG00000143473 ENSG00000143473 HGNC:6250 KCNH5 gene KCNH5 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 112, MIM# 620537 Seizure;HP:0001250 36307226 False 3 100;0;0 1.108 True Other ENSG00000140015 ENSG00000140015 HGNC:6254 KCNJ10 gene KCNJ10 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal SESAME syndrome, MIM# 612780 Seizure;HP:0001250 19289823;19420365;21849804;11466414 False 3 100;0;0 1.108 True ENSG00000177807 ENSG00000177807 HGNC:6256 KCNJ11 gene KCNJ11 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diabetes mellitus, transient neonatal, 3 610582;Diabetes, permanent neonatal, with or without neurologic features 606176;Hyperinsulinemic hypoglycemia, familial, 2 601820 Seizure;HP:0001250 18250167;11395395;23275527;23345197 False 3 100;0;0 1.108 True ENSG00000187486 ENSG00000187486 HGNC:6257 KCNK4 gene KCNK4 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 618381 Seizure;HP:0001250 30290154 False 3 100;0;0 1.108 True Other ENSG00000182450 ENSG00000182450 HGNC:6279 KCNMA1 gene KCNMA1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446;Cerebellar atrophy, developmental delay, and seizures, MIM# 617643;Liang-Wang syndrome, MIM# 618729 Seizure;HP:0001250 15937479;26195193;27567911;29545233;31427379;31152168 False 3 100;0;0 1.108 True ENSG00000156113 ENSG00000156113 HGNC:6284 KCNN2 gene KCNN2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725 Seizure;HP:0001250 33242881 False 3 100;0;0 1.108 True ENSG00000080709 ENSG00000080709 HGNC:6291 KCNQ2 gene KCNQ2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 7, 613720;Seizures, benign neonatal, 1, 121200 Seizure;HP:0001250 25959266;32917465;24318194 False 3 67;33;0 1.108 True Other ENSG00000075043 ENSG00000075043 HGNC:6296 KCNQ3 gene KCNQ3 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Seizures, benign neonatal, 2, MIM# 121201 Seizure;HP:0001250 33337327;25524373;24851285 False 3 100;0;0 1.108 True ENSG00000184156 ENSG00000184156 HGNC:6297 KCNQ5 gene KCNQ5 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 46, MIM# 617601 Seizure;HP:0001250 28669405;30359776 False 3 100;0;0 1.108 True ENSG00000185760 ENSG00000185760 HGNC:6299 KCNT1 gene KCNT1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, nocturnal frontal lobe, 5, MIM# 615005;Epileptic encephalopathy, early infantile, 14, MIM# 614959 Seizure;HP:0001250 23086397;23086396;31872048;31532509 False 3 100;0;0 1.108 True ENSG00000107147 ENSG00000107147 HGNC:18865 KCNT2 gene KCNT2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 57, MIM#617771;Developmental and epileptic encephalopathy Seizure;HP:0001250 29069600;29740868 False 3 100;0;0 1.108 True Other ENSG00000162687 ENSG00000162687 HGNC:18866 KCTD3 gene KCTD3 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy;Intellectual disability;Posterior fossa abnormalities Seizure;HP:0001250 29406573 False 3 100;0;0 1.108 True ENSG00000136636 ENSG00000136636 HGNC:21305 KCTD7 gene KCTD7 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726), AR Seizure;HP:0001250 33767931;33970744;22693283;22748208;22693283;22748208 False 3 100;0;0 1.108 True ENSG00000243335 ENSG00000243335 HGNC:21957 KDM4B gene KDM4B Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 65, MIM# 619320;Global developmental delay, intellectual disability and neuroanatomical defects Seizure;HP:0001250 PMID: 33232677 False 3 100;0;0 1.108 True ENSG00000127663 ENSG00000127663 HGNC:29136 KDM5C gene KDM5C Expert Review Green;Literature Genetic Epilepsy 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) Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534;MONDO:0010355 Seizure;HP:0001250 23246292;32279304;26919706;15586325 False 3 100;0;0 1.108 True ENSG00000126012 ENSG00000126012 HGNC:11114 KIAA1109 gene KIAA1109 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal lkuraya-Kucinskas syndrome, MIM# 617822 Seizure;HP:0001250 29290337;30906834 False 3 100;0;0 1.108 True ENSG00000138688 ENSG00000138688 HGNC:26953 KIF1A gene KIF1A Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NESCAV syndrome, MIM# 614255 Seizure;HP:0001250 21820098;28708278 False 3 100;0;0 1.108 True ENSG00000130294 ENSG00000130294 HGNC:888 KIF2A gene KIF2A Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411 Seizure;HP:0001250 23603762;27896282;27747449;29077851;31919497 False 3 100;0;0 1.108 True ENSG00000068796 ENSG00000068796 HGNC:6318 KIF5A gene KIF5A Expert Review Green;Literature;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Myoclonus, intractable, neonatal MIM#617235" Seizure;HP:0001250 27414745;33681666;27463701 False 3 100;0;0 1.108 True ENSG00000155980 ENSG00000155980 HGNC:6323 KIF5C gene KIF5C Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282 Seizure;HP:0001250 23603762;23033978;32562872 False 3 100;0;0 1.108 True ENSG00000168280 ENSG00000168280 HGNC:6325 KLHL20 gene KLHL20 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO:0700092), KLHL20-related Seizure;HP:0001250 PMID: 36214804 False 3 100;0;0 1.108 True ENSG00000076321 ENSG00000076321 HGNC:25056 KMT2A gene KMT2A Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wiedemann-Steiner syndrome MIM#605130 Seizure;HP:0001250 PMID: 37075569 False 3 100;0;0 1.108 True ENSG00000118058 ENSG00000118058 HGNC:7132 KMT2C gene KMT2C Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Kleefstra syndrome 2, MIM# 617768" Seizure;HP:0001250 39013459 False 3 100;0;0 1.108 True ENSG00000055609 ENSG00000055609 HGNC:13726 KMT2D gene KMT2D Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Kabuki syndrome 1 MIM#147920" Seizure;HP:0001250 33552639;28404210;27922244;21882399 False 3 100;0;0 1.108 True ENSG00000167548 ENSG00000167548 HGNC:7133 KMT2E gene KMT2E Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted O'Donnell-Luria-Rodan syndrome, MIM# 618512;Intellectual disability;Autism;Seizures Seizure;HP:0001250 31079897 False 3 100;0;0 1.108 True ENSG00000005483 ENSG00000005483 HGNC:18541 KPTN gene KPTN Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 4, MIM#1615637 Seizure;HP:0001250 25847626;24239382;32358097;32808430 False 3 100;0;0 1.108 True ENSG00000118162 ENSG00000118162 HGNC:6404 KRAS gene KRAS Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Oculoectodermal syndrome, somatic MIM#600268;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic MIM#163200 Seizure;HP:0001250 PMID: 37126322;37722300 False 3 100;0;0 1.108 True Other ENSG00000133703 ENSG00000133703 HGNC:6407 KRIT1 gene KRIT1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860;Cavernous malformations of CNS and retina MIM#116860;Cerebral cavernous malformations-1 MIM#116860" Seizure;HP:0001250 35836010;35444609 False 3 100;0;0 1.108 True ENSG00000001631 ENSG00000001631 HGNC:1573 L2HGDH gene L2HGDH Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal L-2-hydroxyglutaric aciduria MIM#236792 Seizure;HP:0001250 PMID: 37113859 False 3 100;0;0 1.108 True ENSG00000087299 ENSG00000087299 HGNC:20499 LAMA2 gene LAMA2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855;Muscular dystrophy, limb-girdle, autosomal recessive 23 , MIM#618138" Seizure;HP:0001250 33333793;34325301 False 3 100;0;0 1.108 True ENSG00000196569 ENSG00000196569 HGNC:6482 LAMC3 gene LAMC3 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cortical malformations, occipital, MIM#614115 Seizure;HP:0001250 33639934;21572413;34354730 False 3 100;0;0 1.108 True ENSG00000050555 ENSG00000050555 HGNC:6494 LARS gene LARS Expert Review Green;Literature;NHS GMS Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Infantile liver failure syndrome 1, MIM# 615438;Seizures;Intellectual disability;Encephalopathy Seizure;HP:0001250 32699352 False 3 100;0;0 1.108 True ENSG00000133706 ENSG00000133706 HGNC:6512 LETM1 gene LETM1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Seizure;HP:0001250 36055214 False 3 100;0;0 1.108 True ENSG00000168924 ENSG00000168924 HGNC:6556 LGI1 gene LGI1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, familial temporal lobe, 1, MIM# 6000512 Seizure;HP:0001250 18711109;12205652;15079010;22496201 False 3 100;0;0 1.108 True ENSG00000108231 ENSG00000108231 HGNC:6572 LIAS gene LIAS Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462 Seizure;HP:0001250 22152680;24334290;26108146 False 3 100;0;0 1.108 True ENSG00000121897 ENSG00000121897 HGNC:16429 LIG3 gene LIG3 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780 Seizure;HP:0001250 33855352 False 3 100;0;0 1.108 True ENSG00000005156 ENSG00000005156 HGNC:6600 LIPT2 gene LIPT2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668 Seizure;HP:0001250 28757203 False 3 100;0;0 1.108 True ENSG00000175536 ENSG00000175536 HGNC:37216 LMBRD2 gene LMBRD2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay with variable neurologic and brain abnormalities, MIM# 619694;Global developmental delay;Intellectual disability;Microcephaly;Seizures;Abnormality of nervous system morphology;Abnormality of the eye Seizure;HP:0001250 32820033;https://doi.org/10.1101/797787 False 3 50;50;0 1.108 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000164187 ENSG00000164187 HGNC:25287 LNPK gene LNPK Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090 Seizure;HP:0001250 30032983 False 3 100;0;0 1.108 True ENSG00000144320 ENSG00000144320 HGNC:21610 LSS gene LSS Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Alopecia-intellectual disability syndrome 4, MIM#618840 Seizure;HP:0001250 PMID: 30723320;37157980 False 3 100;0;0 1.108 True ENSG00000160285 ENSG00000160285 HGNC:6708 MACF1 gene MACF1 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Lissencephaly 9 with complex brainstem malformation, MIM# 618325" Seizure;HP:0001250 30471716 False 3 100;0;0 1.108 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000127603 ENSG00000127603 HGNC:13664 MADD gene MADD Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal DEEAH syndrome, MIM#619004 (Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities);Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia (NEDDISH), MIM# 619005 Seizure;HP:0001250 28940097;29302074;32761064 False 3 100;0;0 1.108 True ENSG00000110514 ENSG00000110514 HGNC:6766 MAF gene MAF Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ayme-Gripp syndrome (MIM#601088) Seizure;HP:0001250 30160832;34643041 False 3 100;0;0 1.108 True ENSG00000178573 ENSG00000178573 HGNC:6776 MAP1B gene MAP1B Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability;seizures;PVNH;dysmorphic features;Periventricular nodular heterotopia 9, MIM# 618918 Seizure;HP:0001250 33772511 False 3 50;0;50 1.108 True ENSG00000131711 ENSG00000131711 HGNC:6836 MAP2K1 gene MAP2K1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 3, MIM# 615279 Seizure;HP:0001250 16439621;17551924;18042262;20301365 False 3 100;0;0 1.108 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 4, MIM# 615280 Seizure;HP:0001250 20358587;16439621;18042262 False 3 100;0;0 1.108 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000126934 ENSG00000126934 HGNC:6842 MARK2 gene MARK2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092 Seizure;HP:0001250 PMID: 39419027, 39436150 False 3 100;0;0 1.108 True ENSG00000072518 ENSG00000072518 HGNC:3332 MAST1 gene MAST1 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations;OMIM #618273 Seizure;HP:0001250 31721002;30449657;32198973 False 3 100;0;0 1.108 True ENSG00000105613 ENSG00000105613 HGNC:19034 MAST3 gene MAST3 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 108, MIM#620115 Seizure;HP:0001250 34185323 False 3 100;0;0 1.108 True ENSG00000099308 ENSG00000099308 HGNC:19036 MAST4 gene MAST4 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, MAST4-related Seizure;HP:0001250 36910266;33057194 False 3 100;0;0 1.108 True ENSG00000069020 ENSG00000069020 HGNC:19037 MBD5 gene MBD5 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 1, MIM# 156200;MONDO:0007974 Seizure;HP:0001250 18812405;21981781;23708187;22726846;33912662 False 3 100;0;0 1.108 True ENSG00000204406 ENSG00000204406 HGNC:20444 MBOAT7 gene MBOAT7 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal intellectual disability MIM#617188 Seizure;HP:0001250 33335874;32645526;32744787;31852446;31282596;30701556 False 3 100;0;0 1.108 True ENSG00000125505 ENSG00000125505 HGNC:15505 MDH2 gene MDH2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 51 MIM#617339 Seizure;HP:0001250 27989324;34766628 False 3 100;0;0 1.108 True ENSG00000146701 ENSG00000146701 HGNC:6971 MECP2 gene MECP2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy 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) Rett syndrome, MIM# 312750;Intellectual developmental disorder, X-linked, syndromic 13, MIM# 300055;Encephalopathy, neonatal severe, MIM# 300673 Seizure;HP:0001250 32469049 False 3 100;0;0 1.108 True ENSG00000169057 ENSG00000169057 HGNC:6990 MED11 gene MED11 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327 Seizure;HP:0001250 36001086 False 3 100;0;0 1.108 True ENSG00000161920 ENSG00000161920 HGNC:32687 MED12 gene MED12 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy 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) Ohdo syndrome, X-linked MIM#300895;Lujan-Fryns syndrome MIM#309520;Opitz-Kaveggia syndrome MIM#305450 Seizure;HP:0001250 33244166;32174975;30006928;27312080;33244166 False 3 100;0;0 1.108 True ENSG00000184634 ENSG00000184634 HGNC:11957 MED13L gene MED13L Expert Review Green;Literature;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Impaired intellectual development and distinctive facial features with or without cardiac defects MIM#616789" Seizure;HP:0001250 32646507;29511999;25712080 False 3 100;0;0 1.108 True ENSG00000123066 ENSG00000123066 HGNC:22962 MED17 gene MED17 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668 Seizure;HP:0001250 30345598 False 3 100;0;0 1.108 True ENSG00000042429 ENSG00000042429 HGNC:2375 MED27 gene MED27 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia MIM#619286" Seizure;HP:0001250 33443317 False 3 100;0;0 1.108 True ENSG00000160563 ENSG00000160563 HGNC:2377 MEF2C gene MEF2C Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443;MONDO:0013266 Seizure;HP:0001250 19876902;19471318;19592390;19592390;20513142;34055696;34022131 False 3 100;0;0 1.108 True ENSG00000081189 ENSG00000081189 HGNC:6996 MFF gene MFF Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086 Seizure;HP:0001250 22499341;26783368;32181496 False 3 100;0;0 1.108 True ENSG00000168958 ENSG00000168958 HGNC:24858 MFSD8 gene MFSD8 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7 610951 Seizure;HP:0001250 30249282;30144815;30301600;28586915 False 3 100;0;0 1.108 True ENSG00000164073 ENSG00000164073 HGNC:28486 MINPP1 gene MINPP1 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Pontocerebellar hypoplasia, type 16, MIM# 619527" Seizure;HP:0001250 33257696 False 3 100;0;0 1.108 True ENSG00000107789 ENSG00000107789 HGNC:7102 MLC1 gene MLC1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004) Seizure;HP:0001250 11254442;18757878;16652334 False 3 100;0;0 1.108 True ENSG00000100427 ENSG00000100427 HGNC:17082 MMACHC gene MMACHC Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type MIM#277400 Seizure;HP:0001250 27604308;16311595 False 3 100;0;0 1.108 True ENSG00000132763 ENSG00000132763 HGNC:24525 MMADHC gene MMADHC Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria, cblD type, variant 1 MIM#277410;Methylmalonic aciduria and homocystinuria, cblD type MIM#277410;Methylmalonic aciduria, cblD type, variant 2 MIM#277410 Seizure;HP:0001250 27604308;18385497 False 3 100;0;0 1.108 True ENSG00000168288 ENSG00000168288 HGNC:25221 MOCS1 gene MOCS1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency A, MIM# 252150 Seizure;HP:0001250 9921896;12754701;21031595 False 3 100;0;0 1.108 True ENSG00000124615 ENSG00000124615 HGNC:7190 MOCS2 gene MOCS2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency B MIM#252160 Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000164172 ENSG00000164172 HGNC:7193 MOGS gene MOGS Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIb, MIM# 606056 Seizure;HP:0001250 31925597;30587846;33058492 False 3 100;0;0 1.108 True ENSG00000115275 ENSG00000115275 HGNC:24862 MPDU1 gene MPDU1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type If, MIM# 609180;MPDU1-CDG, MONDO:0012211 Seizure;HP:0001250 11733564;11733556;31741824;29721919 False 3 100;0;0 1.108 True ENSG00000129255 ENSG00000129255 HGNC:7207 MTHFR gene MTHFR Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria due to MTHFR deficiency MIM#236250 Seizure;HP:0001250 27604308;7920641 False 3 100;0;0 1.108 True ENSG00000177000 ENSG00000177000 HGNC:7436 MTHFS gene MTHFS Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 Seizure;HP:0001250 30031689;31844630;22303332 False 3 100;0;0 1.108 True ENSG00000136371 ENSG00000136371 HGNC:7437 MTOR gene MTOR Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Smith-Kingsmore syndrome, MIM# 616638;Focal cortical dysplasia, type II, somatic, MIM# 607341;Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283 Seizure;HP:0001250 28892148;25878179;26018084 False 3 100;0;0 1.108 True Other ENSG00000198793 ENSG00000198793 HGNC:3942 MTR gene MTR Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940 Seizure;HP:0001250 25526710;9683607;28666289 False 3 100;0;0 1.108 True ENSG00000116984 ENSG00000116984 HGNC:7468 MYCBP2 gene MYCBP2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related;corpus callosum abnormalities Seizure;HP:0001250 PMID: 36200388 False 3 100;0;0 1.108 True ENSG00000005810 ENSG00000005810 HGNC:23386 MYT1L gene MYT1L Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 39, MIM# 616521 Seizure;HP:0001250 32065501 False 3 100;0;0 1.108 True ENSG00000186487 ENSG00000186487 HGNC:7623 NAA10 gene NAA10 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females NAA10-related syndrome MONDO:0100124 Seizure;HP:0001250 11426460;29957440;34200686;30842225;34075687;21700266;37130971 False 3 60;20;20 1.108 True ENSG00000102030 ENSG00000102030 HGNC:18704 NACC1 gene NACC1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination - MIM#617393 Seizure;HP:0001250 28132692 False 3 100;0;0 1.108 True ENSG00000160877 ENSG00000160877 HGNC:20967 NAGLU gene NAGLU Expert list;Expert Review Amber;Expert Review Green;Literature;Royal Melbourne Hospital Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIB (Sanfilippo B) - 252920;Seizures Seizure;HP:0001250 34396902;25818867;8650226 False 3 67;33;0 1.108 True ENSG00000108784 ENSG00000108784 HGNC:7632 NALCN gene NALCN Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419) Seizure;HP:0001250 30167850 False 3 100;0;0 1.108 True ENSG00000102452 ENSG00000102452 HGNC:19082 NAPB gene NAPB Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 107 MIM#620033 Seizure;HP:0001250 26235277;28097321;33189936 False 3 100;0;0 1.108 True ENSG00000125814 ENSG00000125814 HGNC:15751 NARS gene NARS Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091;Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092;Abnormal muscle tone;Microcephaly;Global developmental delay;Intellectual disability;Seizures;Ataxia;Abnormality of the face;Demyelinating peripheral neuropathy Seizure;HP:0001250 32738225 False 3 100;0;0 1.108 True ENSG00000134440 ENSG00000134440 HGNC:7643 NARS2 gene NARS2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 24 - MIM#616239 Seizure;HP:0001250 25385316;25807530;30327238;28077841 False 3 100;0;0 1.108 True ENSG00000137513 ENSG00000137513 HGNC:26274 NBEA gene NBEA Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157;Intellectual disability;Seizures Seizure;HP:0001250 30269351;28554332;12746398;12826745;11450821;3377648;23277425;22109531;23153818 False 3 100;0;0 1.108 True ENSG00000172915 ENSG00000172915 HGNC:7648 NCDN gene NCDN Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373 Seizure;HP:0001250 33711248 False 3 100;0;0 1.108 True ENSG00000020129 ENSG00000020129 HGNC:17597 NDE1 gene NDE1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microhydranencephaly 605013;Lissencephaly 4 (with microcephaly) 614019 Seizure;HP:0001250 30637988 False 3 100;0;0 1.108 True ENSG00000072864 ENSG00000072864 HGNC:17619 NDST1 gene NDST1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 46 - MIM#616116 Seizure;HP:0001250 25125150;21937992;32878022;28211985 False 3 100;0;0 1.108 True ENSG00000070614 ENSG00000070614 HGNC:7680 NDUFA1 gene NDUFA1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mitochondrial complex I deficiency, nuclear type 12 MIM#301020 Seizure;HP:0001250 29506883;19185523;17262856;21596602 False 3 100;0;0 1.108 True ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFAF2 gene NDUFAF2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233 Seizure;HP:0001250 33528536;34364746;16200211;19384974;20571988 False 3 100;0;0 1.108 True ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF5 gene NDUFAF5 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 3 MIM#618224 Seizure;HP:0001250 34797029 False 3 100;0;0 1.108 True ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFS4 gene NDUFS4 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010 Seizure;HP:0001250 11181577;11165261;16478720;10944442;24295889;22326555;27079373;15975579;19364667;27671926;33093004;29264396;34484776 False 3 100;0;0 1.108 True ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS8 gene NDUFS8 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 2 MIM#618222 Seizure;HP:0001250 23430795;9837812;15159508;22499348;20818383;20819849 False 3 100;0;0 1.108 True ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 4 MIM#618225 Seizure;HP:0001250 34807224 False 3 100;0;0 1.108 True ENSG00000167792 ENSG00000167792 HGNC:7716 NEDD4L gene NEDD4L Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periventricular nodular heterotopia 7, MIM#617201 Seizure;HP:0001250 28515470;23934111;28212375;27694961 False 3 100;0;0 1.108 True ENSG00000049759 ENSG00000049759 HGNC:7728 NEU1 gene NEU1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sialidosis, type I/II MIM#256550 Seizure;HP:0001250 25401298;14517945 False 3 100;0;0 1.108 True ENSG00000204386 ENSG00000204386 HGNC:7758 NEUROD2 gene NEUROD2 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epileptic encephalopathy, early infantile, 72, MIM# 618374" Seizure;HP:0001250 30323019 False 3 100;0;0 1.108 True ENSG00000171532 ENSG00000171532 HGNC:7763 NEXMIF gene NEXMIF Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy 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 98, MIM# 300912 Seizure;HP:0001250 27358180 False 3 100;0;0 1.108 True ENSG00000050030 ENSG00000050030 HGNC:29433 NGLY1 gene NGLY1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation, MIM# 615273 Seizure;HP:0001250 32259258;24651605;27388694 False 3 100;0;0 1.108 True ENSG00000151092 ENSG00000151092 HGNC:17646 NHLRC1 gene NHLRC1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora) 254780 Seizure;HP:0001250 21505799;12958597 False 3 100;0;0 1.108 True ENSG00000187566 ENSG00000187566 HGNC:21576 NOTCH3 gene NOTCH3 Expert list;Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, NOTCH3-related;Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310 Seizure;HP:0001250 33020014;30776699;21414809;30056822;17675836 False 3 50;0;50 1.108 True ENSG00000074181 ENSG00000074181 HGNC:7883 NOVA2 gene NOVA2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859 Seizure;HP:0001250 32197073;35607920 False 3 67;33;0 1.108 True ENSG00000104967 ENSG00000104967 HGNC:7887 NPRL2 gene NPRL2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epilepsy, familial focal, with variable foci 2 617116;focal seizures;frontal lobe epilepsy;nocturnal frontal lobe epilepsy;temporal lobe epilepsy;focal cortical dysplasia" Seizure;HP:0001250 26505888;27173016;28199897;31594065 False 3 100;0;0 1.108 True ENSG00000114388 ENSG00000114388 HGNC:24969 NPRL3 gene NPRL3 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, familial focal, with variable foci 3- MIM#617118 Seizure;HP:0001250 27173016;26285051;33461085 False 3 100;0;0 1.108 True ENSG00000103148 ENSG00000103148 HGNC:14124 NR2F1 gene NR2F1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722 Seizure;HP:0001250 32275123 False 3 100;0;0 1.108 True ENSG00000175745 ENSG00000175745 HGNC:7975 NR4A2 gene NR4A2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911 Seizure;HP:0001250 31428396;32366965 False 3 100;0;0 1.108 True ENSG00000153234 ENSG00000153234 HGNC:7981 NRROS gene NRROS Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal neurodegeneration;intracranial calcification;epilepsy Seizure;HP:0001250 32100099;32197075 False 3 100;0;0 1.108 True ENSG00000174004 ENSG00000174004 HGNC:24613 NRXN1 gene NRXN1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pitt-Hopkins-like syndrome 2 - MIM#614325 Seizure;HP:0001250 25486015;19896112;21964664;30873608;35101781;22337556;22670139 False 3 100;0;0 1.108 True ENSG00000179915 ENSG00000179915 HGNC:8008 NSD1 gene NSD1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sotos syndrome 1 (MIM#117550), AD Seizure;HP:0001250 16010675;15942875 False 3 100;0;0 1.108 True ENSG00000165671 ENSG00000165671 HGNC:14234 NSDHL gene NSDHL Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females CK syndrome (MIM#300831) Seizure;HP:0001250 21129721;15689440;25900314 False 3 100;0;0 1.108 True ENSG00000147383 ENSG00000147383 HGNC:13398 NSRP1 gene NSRP1 Expert list;Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy;Cerebral palsy;microcephaly;Intellectual disability Seizure;HP:0001250 34385670 False 3 50;50;0 1.108 True ENSG00000126653 ENSG00000126653 HGNC:25305 NTRK2 gene NTRK2 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epileptic encephalopathy, early infantile, 58, MIM# 617830" Seizure;HP:0001250 29100083 False 3 100;0;0 1.108 True ENSG00000148053 ENSG00000148053 HGNC:8032 NUP214 gene NUP214 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426;epileptic encephalopathy;developmental regression;microcephaly Seizure;HP:0001250 31178128;30758658 False 3 100;0;0 1.108 True ENSG00000126883 ENSG00000126883 HGNC:8064 NUS1 gene NUS1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 55, with seizures, MIM# 617831 Seizure;HP:0001250 31656175;29100083 False 3 100;0;0 1.108 True ENSG00000153989 ENSG00000153989 HGNC:21042 OCLN gene OCLN Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 1, MIM#251290 Seizure;HP:0001250 20727516;32240828;29192239;28386946 False 3 100;0;0 1.108 True ENSG00000197822 ENSG00000197822 HGNC:8104 OGDHL gene OGDHL Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Yoon-Bellen neurodevelopmental syndrome, MIM# 619701;Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia Seizure;HP:0001250 34800363 False 3 100;0;0 1.108 True ENSG00000197444 ENSG00000197444 HGNC:25590 OPHN1 gene OPHN1 Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM#300486 Seizure;HP:0001250 20528889;9582072;12807966;16221952 False 3 100;0;0 1.108 True ENSG00000079482 ENSG00000079482 HGNC:8148 OSGEP gene OSGEP Expert Review Green;Literature;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 3, MIM#617729 Seizure;HP:0001250 PMID: 28805828;33333793 False 3 100;0;0 1.108 True ENSG00000092094 ENSG00000092094 HGNC:18028 OTUD6B gene OTUD6B Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452 Seizure;HP:0001250 28343629;32924626;31147255 False 3 100;0;0 1.108 True ENSG00000155100 ENSG00000155100 HGNC:24281 OXR1 gene OXR1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, MIM# 213000" Seizure;HP:0001250 31785787;22028674 False 3 100;0;0 1.108 True ENSG00000164830 ENSG00000164830 HGNC:15822 P4HTM gene P4HTM Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities;OMIM #618493 Seizure;HP:0001250 25078763;30940925 False 3 100;0;0 1.108 True ENSG00000178467 ENSG00000178467 HGNC:28858 PABPC1 gene PABPC1 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, PABPC1-related (MONDO#0700092) Seizure;HP:0001250 35511136 False 3 100;0;0 1.108 True ENSG00000070756 ENSG00000070756 HGNC:8554 PACS1 gene PACS1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schuurs-Hoeijmakers syndrome (MIM# 615009) Seizure;HP:0001250 26842493;23159249 False 3 100;0;0 1.108 True ENSG00000175115 ENSG00000175115 HGNC:30032 PACS2 gene PACS2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 66 - MIM#618067 Seizure;HP:0001250 29656858;34894068;34859793 False 3 100;0;0 1.108 True ENSG00000179364 ENSG00000179364 HGNC:23794 PAFAH1B1 gene PAFAH1B1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 1, MIM# 607432;Subcortical laminar heterotopia, MIM# 607432;MONDO:0011830 Seizure;HP:0001250 11754098;18285425 False 3 100;0;0 1.108 True ENSG00000007168 ENSG00000007168 HGNC:8574 PAH gene PAH Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Phenylketonuria, MIM#261600 Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000171759 ENSG00000171759 HGNC:8582 PAK1 gene PAK1 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158) Seizure;HP:0001250 30290153;31504246 False 3 100;0;0 1.108 True ENSG00000149269 ENSG00000149269 HGNC:8590 PARP6 gene PARP6 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;Epilepsy;Microcephaly Seizure;HP:0001250 34067418 False 3 100;0;0 1.108 True ENSG00000137817 ENSG00000137817 HGNC:26921 PARS2 gene PARS2 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Epileptic encephalopathy, early infantile, 75, MIM# 618437" Seizure;HP:0001250 29410512;28077841;25629079;29915213 False 3 100;0;0 1.108 True ENSG00000162396 ENSG00000162396 HGNC:30563 PCCA gene PCCA Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Propionicacidemia - MIM#606054 Seizure;HP:0001250 17966092;10101253;9887338 False 3 100;0;0 1.108 True ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Propionicacidemia - MIM#606054 Seizure;HP:0001250 7386459;9683601;10502773 False 3 100;0;0 1.108 True ENSG00000114054 ENSG00000114054 HGNC:8654 PCDH12 gene PCDH12 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;GeneReviews;Royal Melbourne Hospital;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280 Seizure;HP:0001250 27164683;30178464;30459466 False 3 50;0;50 1.108 True ENSG00000113555 ENSG00000113555 HGNC:8657 PCDH19 gene PCDH19 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders Other Epileptic encephalopathy, early infantile, 9 300088;PCDH19-related epilepsy (early seizure onset, generalised or focused seizures);cognitive impairment Seizure;HP:0001250 18469813;30287595 False 3 100;0;0 1.108 True ENSG00000165194 ENSG00000165194 HGNC:14270 PCDHGC4 gene PCDHGC4 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880 Seizure;HP:0001250 34244665 False 3 100;0;0 1.108 True ENSG00000242419 ENSG00000242419 HGNC:8717 PCYT2 gene PCYT2 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal intellectual disability;regression;spastic para-/tetraparesis;epilepsy;progressive cerebral and cerebellar atrophy Seizure;HP:0001250 31637422 False 3 50;0;50 1.108 True ENSG00000185813 ENSG00000185813 HGNC:8756 PDCD10 gene PDCD10 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebral cavernous malformations-3 MIM#603285 Seizure;HP:0001250 25354366;26246098 False 3 50;50;0 1.108 True ENSG00000114209 ENSG00000114209 HGNC:8761 PDE2A gene PDE2A Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Intellectual developmental disorder with paroxysmal dyskinesia or seizures MIM#619150" Seizure;HP:0001250 32467598;32196122;37317634 False 3 50;50;0 1.108 True ENSG00000186642 ENSG00000186642 HGNC:8777 PDHA1 gene PDHA1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy 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) Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170 Seizure;HP:0001250 8504309 False 3 100;0;0 1.108 True ENSG00000131828 ENSG00000131828 HGNC:8806 PDHX gene PDHX Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lactic acidaemia due to PDX1 deficiency MIM#245349 Seizure;HP:0001250 20002125;34873726;33092611;30981218;25087164;22766002 False 3 100;0;0 1.108 True ENSG00000110435 ENSG00000110435 HGNC:21350 PET100 gene PET100 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055 Seizure;HP:0001250 24462369;25293719;31406627 False 3 100;0;0 1.108 True ENSG00000229833 ENSG00000229833 HGNC:40038 PEX1 gene PEX1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 1A (Zellweger) 214100 Seizure;HP:0001250 26387595 False 3 100;0;0 1.108 True ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 6A (Zellweger), MIM#614870 Seizure;HP:0001250 32069232 False 3 50;0;50 1.108 True ENSG00000157911 ENSG00000157911 HGNC:8851 PEX12 gene PEX12 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859;Peroxisome biogenesis disorder 3B - MIM#266510 Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11A (Zellweger) Seizure;HP:0001250 19449432;37962062;34055681;37962062;30919572;33547378;35854306 False 3 100;0;0 1.108 True ENSG00000162928 ENSG00000162928 HGNC:8855 PEX19 gene PEX19 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886 Seizure;HP:0001250 10051604;20683989;11883941;28391327 False 3 100;0;0 1.108 True ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866 Seizure;HP:0001250 14630978;23430938;17041890 False 3 50;50;0 1.108 True ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 7A (Zellweger), MIM#614872 Seizure;HP:0001250 34430430;28823628 False 3 50;50;0 1.108 True ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882;Peroxisome biogenesis disorder 10B , MIM# 617370 Seizure;HP:0001250 10942428;10958759;10968777;27557811;33101983 False 3 100;0;0 1.108 True ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110;Peroxisome biogenesis disorder 2B, MIM# 202370 Seizure;HP:0001250 7719337;26220973;20301621 False 3 100;0;0 1.108 True ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862" Seizure;HP:0001250 29220678 False 3 50;0;50 1.108 True ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 9B, MIM# 614879 Seizure;HP:0001250 11781871;12522768;12325024 False 3 100;0;0 1.108 True ENSG00000112357 ENSG00000112357 HGNC:8860 PGAP3 gene PGAP3 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318 Seizure;HP:0001250 24439110;29620724;30345601;30217754 False 3 100;0;0 1.108 True ENSG00000161395 ENSG00000161395 HGNC:23719 PGM2L1 gene PGM2L1 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, PGM2L1-related Seizure;HP:0001250 33979636 False 3 100;0;0 1.108 True ENSG00000165434 ENSG00000165434 HGNC:20898 PHACTR1 gene PHACTR1 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epileptic encephalopathy, early infantile, 70, MIM# 618298" Seizure;HP:0001250 23033978;30256902 False 3 100;0;0 1.108 True ENSG00000112137 ENSG00000112137 HGNC:20990 PHF6 gene PHF6 Expert Review Green;Literature;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Borjeson-Forssman-Lehmann syndrome MIM#301900" Seizure;HP:0001250 32399860 False 3 100;0;0 1.108 True ENSG00000156531 ENSG00000156531 HGNC:18145 PHGDH gene PHGDH Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 1, MIM# 256520;Phosphoglycerate dehydrogenase deficiency, MIM# 601815 Seizure;HP:0001250 24836451;25152457;11055895;19235232 False 3 100;0;0 1.108 True ENSG00000092621 ENSG00000092621 HGNC:8923 PI4K2A gene PI4K2A Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, MIM# 620732 Seizure;HP:0001250 30564627;35880319;19581584 False 3 100;0;0 1.108 True ENSG00000155252 ENSG00000155252 HGNC:30031 PIDD1 gene PIDD1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827 Seizure;HP:0001250 28397838;29302074;33414379;34163010 False 3 100;0;0 1.108 True ENSG00000177595 ENSG00000177595 HGNC:16491 PIGA gene PIGA Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466;Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072 Seizure;HP:0001250 22305531;24357517;24706016;26545172;33333793;32694024;34875027 False 3 100;0;0 1.108 True ENSG00000165195 ENSG00000165195 HGNC:8957 PIGB gene PIGB Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 80, MIM# 618580 Seizure;HP:0001250 31256876 False 3 100;0;0 1.108 True ENSG00000069943 ENSG00000069943 HGNC:8959 PIGC gene PIGC Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816 Seizure;HP:0001250 27694521;32707268 False 3 100;0;0 1.108 True ENSG00000135845 ENSG00000135845 HGNC:8960 PIGG gene PIGG Australian Genomics Health Alliance Epilepsy Flagship;Expert Review;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917" Seizure;HP:0001250 26996948 False 3 100;0;0 1.108 True ENSG00000174227 ENSG00000174227 HGNC:25985 PIGH gene PIGH Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010 Seizure;HP:0001250 29573052;29603516;33156547 False 3 100;0;0 1.108 True ENSG00000100564 ENSG00000100564 HGNC:8964 PIGK gene PIGK Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879 Seizure;HP:0001250 32220290 False 3 100;0;0 1.108 True ENSG00000142892 ENSG00000142892 HGNC:8965 PIGN gene PIGN Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563 Seizure;HP:0001250 21493957;24253414;26364997;26394714;33193741;32585529;29330547 False 3 100;0;0 1.108 True ENSG00000197563 ENSG00000197563 HGNC:8967 PIGO gene PIGO Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882 Seizure;HP:0001250 22683086;31698102;28900819;28545593;28337824 False 3 100;0;0 1.108 True ENSG00000165282 ENSG00000165282 HGNC:23215 PIGP gene PIGP Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 55, MIM# 617599 Seizure;HP:0001250 28334793;31139695;32042915 False 3 50;50;0 1.108 True ENSG00000185808 ENSG00000185808 HGNC:3046 PIGQ gene PIGQ Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Epileptic encephalopathy, early infantile, 77, MIM# 618548" Seizure;HP:0001250 25558065;24463883;31148362;32588908 False 3 100;0;0 1.108 True ENSG00000007541 ENSG00000007541 HGNC:14135 PIGS gene PIGS Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Glycosylphosphatidylinositol biosynthesis defect 18 618143" Seizure;HP:0001250 30269814 False 3 100;0;0 1.108 True ENSG00000087111 ENSG00000087111 HGNC:14937 PIGT gene PIGT Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165 Seizure;HP:0001250 30976099;25943031;24906948;24906948;24906948;28728837;28728837;28728837 False 3 100;0;0 1.108 True ENSG00000124155 ENSG00000124155 HGNC:14938 PIGU gene PIGU Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 21;OMIM #618590 Seizure;HP:0001250 31353022 False 3 100;0;0 1.108 True ENSG00000101464 ENSG00000101464 HGNC:15791 PIGV gene PIGV Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398 Seizure;HP:0001250 20802478;22315194;28817240;24129430 False 3 100;0;0 1.108 True ENSG00000060642 ENSG00000060642 HGNC:26031 PIGW gene PIGW Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025 Seizure;HP:0001250 24367057;27626616;30813920;32198969 False 3 100;0;0 1.108 True ENSG00000184886 ENSG00000277161 HGNC:23213 PIK3CA gene PIK3CA Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501 Seizure;HP:0001250 False 3 100;0;0 1.108 True Other ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3R2 gene PIK3R2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387 Seizure;HP:0001250 22729224;23745724;33604570 False 3 100;0;0 1.108 True ENSG00000105647 ENSG00000105647 HGNC:8980 PIP5K1C gene PIP5K1C Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related Seizure;HP:0001250 37451268 False 3 100;0;0 1.108 True ENSG00000186111 ENSG00000186111 HGNC:8996 PLA2G6 gene PLA2G6 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 2B MIM#610217 Seizure;HP:0001250 30340910 False 3 100;0;0 1.108 True ENSG00000184381 ENSG00000184381 HGNC:9039 PLAA gene PLAA Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527 Seizure;HP:0001250 28007986;28413018;31322726 False 3 100;0;0 1.108 True ENSG00000137055 ENSG00000137055 HGNC:9043 PLCB1 gene PLCB1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 12 (MIM#613722) Seizure;HP:0001250 24684524;20833646;22690784;26818157 False 3 100;0;0 1.108 True ENSG00000182621 ENSG00000182621 HGNC:15917 PLK1 gene PLK1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy;microcephaly;intellectual disability Seizure;HP:0001250 33875846 False 3 100;0;0 1.108 True ENSG00000166851 ENSG00000166851 HGNC:9077 PLP1 gene PLP1 Expert Review Green;Literature Genetic Epilepsy 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) Pelizaeus-Merzbacher Disease, MIM#312080 Seizure;HP:0001250 7512350;11071483;21679407;28133555;29486744;35346287;37637647 False 3 100;0;0 1.108 True ENSG00000123560 ENSG00000123560 HGNC:9086 PLPBP gene PLPBP Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290 Seizure;HP:0001250 27912044;31741821;30668673 False 3 100;0;0 1.108 True ENSG00000147471 ENSG00000147471 HGNC:9457 PLXNA1 gene PLXNA1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955 Seizure;HP:0001250 34054129 False 3 100;0;0 1.108 True ENSG00000114554 ENSG00000114554 HGNC:9099 PMM2 gene PMM2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia (MIM#212065);Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related Seizure;HP:0001250 28108845;28373276;32595772 False 3 50;50;0 1.108 True ENSG00000140650 ENSG00000140650 HGNC:9115 PMPCB gene PMPCB Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954" Seizure;HP:0001250 29576218 False 3 100;0;0 1.108 True ENSG00000105819 ENSG00000105819 HGNC:9119 PNKP gene PNKP Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Microcephaly, seizures, and developmental delay, MIM# 613402" Seizure;HP:0001250 31436889;31707899 False 3 100;0;0 1.108 True ENSG00000039650 ENSG00000039650 HGNC:9154 PNPLA8 gene PNPLA8 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related Seizure;HP:0001250 PMID: 39082157 False 3 100;0;0 1.108 True ENSG00000135241 ENSG00000135241 HGNC:28900 PNPO gene PNPO Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090 Seizure;HP:0001250 34769443;33981986;33748042;32888189 False 3 100;0;0 1.108 True ENSG00000108439 ENSG00000108439 HGNC:30260 PNPT1 gene PNPT1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 13, MIM# 614932 Seizure;HP:0001250 33158637;31752325 False 3 100;0;0 1.108 True ENSG00000138035 ENSG00000138035 HGNC:23166 POGZ gene POGZ Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted White-Sutton syndrome MIM#616364 Seizure;HP:0001250 PMIS: 34645992;31136090;28490548;26739615;27824329 False 3 100;0;0 1.108 True ENSG00000143442 ENSG00000143442 HGNC:18801 POLG gene POLG Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700;Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM# 613662 Seizure;HP:0001250 30451971 False 3 100;0;0 1.108 True ENSG00000140521 ENSG00000140521 HGNC:9179 POLR3B gene POLR3B Expert Review Green;Literature;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ataxia, spasticity, and demyelinating neuropathy Seizure;HP:0001250 33417887 False 3 100;0;0 1.108 True ENSG00000013503 ENSG00000013503 HGNC:30348 POMGNT1 gene POMGNT1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830 Seizure;HP:0001250 27391550;26908613;30961548;30937090 False 3 100;0;0 1.108 True ENSG00000085998 ENSG00000085998 HGNC:19139 POMT1 gene POMT1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670 Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000130714 ENSG00000130714 HGNC:9202 PPFIA3 gene PPFIA3 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, PPFIA3-related Seizure;HP:0001250 38723631 False 3 100;0;0 1.108 True ENSG00000177380 ENSG00000177380 HGNC:9247 PPFIBP1 gene PPFIBP1 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024 Seizure;HP:0001250 35830857 False 3 100;0;0 1.108 True ENSG00000110841 ENSG00000110841 HGNC:9249 PPIL1 gene PPIL1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 14, MIM# 619301;microcephaly;seizures Seizure;HP:0001250 33220177 False 3 100;0;0 1.108 True ENSG00000137168 ENSG00000137168 HGNC:9260 PPP1R3F gene PPP1R3F Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related Seizure;HP:0001250 37531237 False 3 100;0;0 1.108 True ENSG00000049769 ENSG00000049769 HGNC:14944 PPP2CA gene PPP2CA Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder and language delay with or without structural brain abnormalities, MIM#618354 Seizure;HP:0001250 30595372 False 3 100;0;0 1.108 True ENSG00000113575 ENSG00000113575 HGNC:9299 PPP2R1A gene PPP2R1A Expert Review Green;Literature;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 36, MIM#616362;Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605 Seizure;HP:0001250 PMID: 33106617;26168268 False 3 100;0;0 1.108 True Other ENSG00000105568 ENSG00000105568 HGNC:9302 PPP2R5D gene PPP2R5D Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Houge-Janssens syndrome 1 MIM#616355 Seizure;HP:0001250 26168268;29296277;26576547 False 3 100;0;0 1.108 True ENSG00000112640 ENSG00000112640 HGNC:9312 PPP3CA gene PPP3CA Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 91, MIM#617711 Seizure;HP:0001250 29432562;32593294 False 3 100;0;0 1.108 True ENSG00000138814 ENSG00000138814 HGNC:9314 PPT1 gene PPT1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1, MIM# 256730;MONDO:0009744 Seizure;HP:0001250 7637805;9425237;9664077 False 3 100;0;0 1.108 True ENSG00000131238 ENSG00000131238 HGNC:9325 PRMT7 gene PRMT7 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Short stature, brachydactyly, intellectual developmental disability, and seizures, MIM# 617157 Seizure;HP:0001250 26437029;27718516;30513135 False 3 100;0;0 1.108 True ENSG00000132600 ENSG00000132600 HGNC:25557 PRODH gene PRODH Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperprolinemia, type I, MIM# 239500;Proline oxidase deficiency Seizure;HP:0001250 17412540;12217952 False 3 100;0;0 1.108 True ENSG00000100033 ENSG00000100033 HGNC:9453 PRPF8 gene PRPF8 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, PRPF8-related;Retinitis pigmentosa 13 - MIM#600059 Seizure;HP:0001250 35543142 False 3 100;0;0 1.108 True ENSG00000174231 ENSG00000174231 HGNC:17340 PRRT2 gene PRRT2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Convulsions, familial infantile, with paroxysmal choreoathetosis 602066;Episodic kinesigenic dyskinesia 1 128200;Seizures, benign familial infantile, 2 605751 Seizure;HP:0001250 30501978;30713971;27423591;25595153;33126500 False 3 100;0;0 1.108 True ENSG00000167371 ENSG00000167371 HGNC:30500 PRUNE1 gene PRUNE1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MIM#617481 Seizure;HP:0001250 PMID: 28334956;26539891;30556349;29940663;29797509 False 3 100;0;0 1.108 True ENSG00000143363 ENSG00000143363 HGNC:13420 PSAP gene PSAP Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Combined SAP deficiency, MIM# 611721;Encephalopathy due to prosaposin deficiency, MONDO:0012719;Krabbe disease, atypical, MIM# 611722;MONDO:0012720;Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900;MONDO:0009590;Gaucher disease, atypical, MIM# 610539;MONDO:0012517 Seizure;HP:0001250 32201884;10682309;1371116;15773042;31061751;30632081 False 3 100;0;0 1.108 True ENSG00000197746 ENSG00000197746 HGNC:9498 PTEN gene PTEN Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cowden syndrome 1, MIM#158350 Seizure;HP:0001250 9832032;29033429;29444762 False 3 100;0;0 1.108 True ENSG00000171862 ENSG00000171862 HGNC:9588 PTPN23 gene PTPN23 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890 Seizure;HP:0001250 31395947;29899372;29090338;27848944;25558065 False 3 100;0;0 1.108 True ENSG00000076201 ENSG00000076201 HGNC:14406 PTS gene PTS Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640 Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000150787 ENSG00000150787 HGNC:9689 PUM1 gene PUM1 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719 Seizure;HP:0001250 29474920;25768905;30903679;31859446 False 3 100;0;0 1.108 True ENSG00000134644 ENSG00000134644 HGNC:14957 PURA gene PURA Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158) Seizure;HP:0001250 25439098;25342064;12972605 False 3 100;0;0 1.108 True ENSG00000185129 ENSG00000185129 HGNC:9701 PUS3 gene PUS3 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with microcephaly and gray sclerae, MIM# 617051" Seizure;HP:0001250 36125428;30308082;28454995;27055666;30697592;31444731 False 3 100;0;0 1.108 True ENSG00000110060 ENSG00000110060 HGNC:25461 QARS gene QARS Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760 Seizure;HP:0001250 28620870;25471517;25432320;25041233;24656866;32042906 False 3 100;0;0 1.108 True ENSG00000172053 ENSG00000172053 HGNC:9751 QDPR gene QDPR Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, C, MIM#261630 Seizure;HP:0001250 26006720 False 3 100;0;0 1.108 True ENSG00000151552 ENSG00000151552 HGNC:9752 RAB11B gene RAB11B Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807 Seizure;HP:0001250 29106825 False 3 100;0;0 1.108 True ENSG00000185236 ENSG00000185236 HGNC:9761 RAB18 gene RAB18 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 3, MIM# 614222 Seizure;HP:0001250 11237903;23420520 False 3 100;0;0 1.108 True ENSG00000099246 ENSG00000099246 HGNC:14244 RAB39B gene RAB39B Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 72 MIM#300271;Waisman syndrome MIM#311510 Seizure;HP:0001250 4025396;11050621;20159109 False 3 100;0;0 1.108 True ENSG00000155961 ENSG00000155961 HGNC:16499 RAB5C gene RAB5C Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, RAB5C-related Seizure;HP:0001250 PMID: 37552066 False 3 100;0;0 1.108 True ENSG00000108774 ENSG00000108774 HGNC:9785 RAC3 gene RAC3 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577 Seizure;HP:0001250 35851598 False 3 100;0;0 1.108 True ENSG00000169750 ENSG00000169750 HGNC:9803 RAI1 gene RAI1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Smith-Magenis syndrome MIM#182290 Seizure;HP:0001250 36256819;11404004;12652298;15788730 False 3 100;0;0 1.108 True ENSG00000108557 ENSG00000108557 HGNC:9834 RALA gene RALA Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311;Intellectual disability;Seizures Seizure;HP:0001250 30500825 False 3 100;0;0 1.108 True ENSG00000006451 ENSG00000006451 HGNC:9839 RALGAPA1 gene RALGAPA1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;hypotonia;infantile spasms. Seizure;HP:0001250 32004447 False 3 100;0;0 1.108 True ENSG00000174373 ENSG00000174373 HGNC:17770 RANBP2 gene RANBP2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033 Seizure;HP:0001250 32426208;35485383;33777149;19118815;25128471;25522933;32048120 False 3 100;0;0 1.108 True ENSG00000153201 ENSG00000153201 HGNC:9848 RARS gene RARS Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 9 (# 616140) Seizure;HP:0001250 31814314 False 3 100;0;0 1.108 True ENSG00000113643 ENSG00000113643 HGNC:9870 RARS2 gene RARS2 Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 6 MIM#611523 Seizure;HP:0001250 31536827 False 3 67;0;33 1.108 True ENSG00000146282 ENSG00000146282 HGNC:21406 RBFOX1 gene RBFOX1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO:0700092), RBFOX1-related Seizure;HP:0001250 PMID: 37962958 False 3 100;0;0 1.108 True ENSG00000078328 ENSG00000078328 HGNC:18222 RELN gene RELN Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Epilepsy, familial temporal lobe, 7}, MIM# 616436;MONDO:0014639 Seizure;HP:0001250 28142128 False 3 33;67;0 1.108 True ENSG00000189056 ENSG00000189056 HGNC:9957 RERE gene RERE Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975 Seizure;HP:0001250 30896913;27087320;23451234;30558068 False 3 100;0;0 1.108 True ENSG00000142599 ENSG00000142599 HGNC:9965 RFT1 gene RFT1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type In, MIM# 612015;RFT1-CDG, MONDO:0012783 Seizure;HP:0001250 18313027;19701946;19856127;23111317;30071302;29923091;27927990;26892341 False 3 100;0;0 1.108 True ENSG00000163933 ENSG00000163933 HGNC:30220 RHOBTB2 gene RHOBTB2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 64, MIM#618004 Seizure;HP:0001250 29768694;29276004;37165955 False 3 100;0;0 1.108 True ENSG00000008853 ENSG00000008853 HGNC:18756 RMND1 gene RMND1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 11 MIM#614922 Seizure;HP:0001250 23022098;25604853;26395190 False 3 100;0;0 1.108 True ENSG00000155906 ENSG00000155906 HGNC:21176 RNASEH2A gene RNASEH2A Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 4 MIM#610333 Seizure;HP:0001250 15870678;25604658;23592335;20301648 False 3 100;0;0 1.108 True ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, MIM# 610181 Seizure;HP:0001250 16845400;33307271;29239743 False 3 100;0;0 1.108 True ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 3 (MIM# 610329) Seizure;HP:0001250 24183309;23322642 False 3 100;0;0 1.108 True ENSG00000172922 ENSG00000172922 HGNC:24116 RNASET2 gene RNASET2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, cystic, without megalencephaly MIM#612951 Seizure;HP:0001250 31349848;19525954;27091087;29336640;18545798;15851732 False 3 100;0;0 1.108 True ENSG00000026297 ENSG00000026297 HGNC:21686 RNF113A gene RNF113A Expert Review;Expert Review Green Genetic Epilepsy 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) Trichothiodystrophy 5, nonphotosensitive, MIM#300953 Seizure;HP:0001250 25612912;31880405;31793730;29133357;30506991;15256591;24026126;23555887 False 3 100;0;0 1.108 True ENSG00000125352 ENSG00000125352 HGNC:12974 RNF13 gene RNF13 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epileptic encephalopathy, early infantile, 73, MIM# 618379" Seizure;HP:0001250 30595371 False 3 100;0;0 1.108 True Other ENSG00000082996 ENSG00000082996 HGNC:10057 RNH1 gene RNH1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, RNH1-related;{Encephalopathy, acute, infection-induced, susceptibiliyt to, 12}, MIM# 620461 Seizure;HP:0001250 PMID: 36935417;37191094 False 3 33;0;67 1.108 True ENSG00000023191 ENSG00000023191 HGNC:10074 RNU2-2P gene RNU2-2P Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, RNU2-2P-related Seizure;HP:0001250 https://www.medrxiv.org/content/10.1101/2024.09.03.24312863v1 False 3 100;0;0 1.108 True ENSG00000222328 ENSG00000222328 HGNC:10152 RNU4ATAC gene RNU4ATAC Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710);Roifman syndrome (MIM# 616651);Lowry-Wood syndrome, MIM# 226960 Seizure;HP:0001250 23794361;26522830;30455926;29265708;12605445 False 3 100;0;0 1.108 True ENSG00000264229 ENSG00000264229 HGNC:34016 ROGDI gene ROGDI Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Kohlschutter-Tonz syndrome, MIM# 226750 Seizure;HP:0001250 22424600;23086778;33866847 False 3 100;0;0 1.108 True ENSG00000067836 ENSG00000067836 HGNC:29478 RORA gene RORA Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060 Seizure;HP:0001250 29656859 False 3 100;0;0 1.108 True ENSG00000069667 ENSG00000069667 HGNC:10258 RORB gene RORB Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Epilepsy, idiopathic generalized, susceptibility to, 15} (MIM#618357), AD;Genetic generalized epilepsy (GGE);Photosensitive generalized and occipital epilepsy Seizure;HP:0001250 27352968;32162308 False 3 100;0;0 1.108 True ENSG00000198963 ENSG00000198963 HGNC:10259 RPH3A gene RPH3A Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO#0700092), RPH3A-related Seizure;HP:0001250 37403762;29441694 False 3 100;0;0 1.108 True ENSG00000089169 ENSG00000089169 HGNC:17056 RPS6KA3 gene RPS6KA3 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Coffin-Lowry syndrome MIM# 303600;Intellectual disability;short stature;delayed bone age;hearing deficit;hypotonia;tapering fingers;abnormal facies (hypertelorism, anteverted nares, prominent frontal region) Seizure;HP:0001250 12210291;6879200 False 3 100;0;0 1.108 True ENSG00000177189 ENSG00000177189 HGNC:10432 RRM2B gene RRM2B Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075;Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075 Seizure;HP:0001250 24741716 False 3 100;0;0 1.108 True ENSG00000048392 ENSG00000048392 HGNC:17296 RTN4IP1 gene RTN4IP1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732 Seizure;HP:0001250 26593267;31077085 False 3 100;0;0 1.108 True ENSG00000130347 ENSG00000130347 HGNC:18647 RTTN gene RTTN Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833 Seizure;HP:0001250 30879067 False 3 100;0;0 1.108 True ENSG00000176225 ENSG00000176225 HGNC:18654 SAMHD1 gene SAMHD1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5, MIM# 612952 Seizure;HP:0001250 19525956;21102625;33307271;20301648 False 3 100;0;0 1.108 True ENSG00000101347 ENSG00000101347 HGNC:15925 SART3 gene SART3 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), SART3-related;46,XY disorder of sex development (MONDO:0020040), SART3-related Seizure;HP:0001250 PMID: 37296101 False 3 100;0;0 1.108 True ENSG00000075856 ENSG00000075856 HGNC:16860 SATB1 gene SATB1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Kohlschutter-Tonz syndrome-like, MIM# 619229;Neurodevelopmental disorder;Intellectual disability;Epilepsy;Microcephaly;Regression Seizure;HP:0001250 PMID: 33513338;33057194 False 3 67;33;0 1.108 True Other ENSG00000182568 ENSG00000182568 HGNC:10541 SATB2 gene SATB2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glass syndrome, MIM# 612313;MONDO:0100147 Seizure;HP:0001250 32446642 False 3 100;0;0 1.108 True ENSG00000119042 ENSG00000119042 HGNC:21637 SCAF4 gene SCAF4 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fliedner-Zweier syndrome, MIM#620511 Seizure;HP:0001250 32730804 False 3 100;0;0 1.108 True ENSG00000156304 ENSG00000156304 HGNC:19304 SCAMP5 gene SCAMP5 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;seizures;autism Seizure;HP:0001250 31439720;33390987 False 3 100;0;0 1.108 True Other ENSG00000198794 ENSG00000198794 HGNC:30386 SCARB2 gene SCARB2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Progressive Myoclonus Epilepsy, MONDO:0020074;Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900 Seizure;HP:0001250 18308289;18424452;23659519;19847901;18022370;19933215 False 3 100;0;0 1.108 True ENSG00000138760 ENSG00000138760 HGNC:1665 SCN1A gene SCN1A Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, generalized, with febrile seizures plus, type 2 604403;Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208;Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317;Febrile seizures, familial, 3A 604403 Seizure;HP:0001250 30368457;12754708;25754450;32928894 False 3 67;33;0 1.108 True ENSG00000144285 ENSG00000144285 HGNC:10585 SCN1B gene SCN1B Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental and epileptic encephalopathy (MONDO:0100062);generalized epilepsy with febrile seizures plus (MONDO:0018214) Seizure;HP:0001250 19710327;28218389;23148524 False 3 100;0;0 1.108 True ENSG00000105711 ENSG00000105711 HGNC:10586 SCN2A gene SCN2A Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Seizures, benign familial infantile, 3, MIM# 607745;Developmental and epileptic encephalopathy 11, MIM# 613721 Seizure;HP:0001250 19786696;23662938;15028761;30185235;20956790;24650168;23935176;22495306 False 3 100;0;0 1.108 True ENSG00000136531 ENSG00000136531 HGNC:10588 SCN3A gene SCN3A Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, familial focal, with variable foci 4, MIM# 617935;Epileptic encephalopathy, early infantile, 62, MIM# 617938;Intellectual disability;Malformations of cortical development Seizure;HP:0001250 32515017 False 3 100;0;0 1.108 True Other ENSG00000153253 ENSG00000153253 HGNC:10590 SCN8A gene SCN8A Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 13, MIM# 614558;dominant and recessive Seizure;HP:0001250 31625145;30842224;24888894 False 3 67;33;0 1.108 True Other ENSG00000196876 ENSG00000196876 HGNC:10596 SCO2 gene SCO2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377 Seizure;HP:0001250 False 3 67;33;0 1.108 True ENSG00000130489 ENSG00000130489 HGNC:10604 SECISBP2 gene SECISBP2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thyroid hormone metabolism, abnormal, 1, MIM# 609698 Seizure;HP:0001250 39315526 False 3 100;0;0 1.108 True ENSG00000187742 ENSG00000187742 HGNC:30972 SEMA6B gene SEMA6B Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive myoclonic epilepsy Seizure;HP:0001250 32169168 False 3 100;0;0 1.108 True Other ENSG00000167680 ENSG00000167680 HGNC:10739 SEPSECS gene SEPSECS Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2D, MIM# 613811 Seizure;HP:0001250 20920667;25044680;31748115;29464431 False 3 50;0;50 1.108 True ENSG00000109618 ENSG00000109618 HGNC:30605 SERAC1 gene SERAC1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MIM#614739" Seizure;HP:0001250 PMID: 27186703;24997715 False 3 0;100;0 1.108 True ENSG00000122335 ENSG00000122335 HGNC:21061 SERPINI1 gene SERPINI1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218 Seizure;HP:0001250 28631894;25401298;12103288 False 3 100;0;0 1.108 True ENSG00000163536 ENSG00000163536 HGNC:8943 SETBP1 gene SETBP1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schinzel-Giedion midface retraction syndrome, MIM# 269150;Intellectual disability, autosomal dominant 29, MIM# 616078 Seizure;HP:0001250 20436468;25217958;34807554 False 3 100;0;0 1.108 True ENSG00000152217 ENSG00000152217 HGNC:15573 SETD1A gene SETD1A Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, early-onset, with or without developmental delay, MIM# 618832;Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056 Seizure;HP:0001250 31197650;32346159 False 3 100;0;0 1.108 True ENSG00000099381 ENSG00000099381 HGNC:29010 SETD1B gene SETD1B Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy with myoclonic absences;intellectual disability;Intellectual developmental disorder with seizures and language delay (IDDSELD), MIM#619000 Seizure;HP:0001250 29322246;31440728;31685013 False 3 100;0;0 1.108 True ENSG00000139718 ENSG00000139718 HGNC:29187 SETD5 gene SETD5 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, autosomal dominant 23 (MIM # 615761) Seizure;HP:0001250 29484850 False 3 0;0;0 1.108 True ENSG00000168137 ENSG00000168137 HGNC:25566 SGCE gene SGCE Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Dystonia-11, myoclonic, MIM# 159900 Seizure;HP:0001250 15389977;12821748;24297365 False 3 100;0;0 1.108 True ENSG00000127990 ENSG00000127990 HGNC:10808 SGSH gene SGSH Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 Seizure;HP:0001250 21061399;30593151 False 3 100;0;0 1.108 True ENSG00000181523 ENSG00000181523 HGNC:10818 SHANK3 gene SHANK3 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phelan-McDermid syndrome MIM#606232 Seizure;HP:0001250 PMID: 37655421 False 3 100;0;0 1.108 True ENSG00000251322 ENSG00000251322 HGNC:14294 SHH gene SHH Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders Other Hypothalamic hamartoma Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000164690 ENSG00000164690 HGNC:10848 SHROOM4 gene SHROOM4 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females epilepsy, idiopathic generalised, SHROOM4-related, MONDO:0005579 Seizure;HP:0001250 35663265 False 3 100;0;0 1.108 True ENSG00000158352 ENSG00000158352 HGNC:29215 SIK1 gene SIK1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 30, MIM#616341;developmental and epileptic encephalopathy, MONDO#0100062 Seizure;HP:0001250 25839329;27966542;35267137 False 3 100;0;0 1.108 True ENSG00000142178 ENSG00000142178 HGNC:11142 SLC12A5 gene SLC12A5 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Developmental and epileptic encephalopathy 34, MIM# 616645;{Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685 Seizure;HP:0001250 26333769;27436767;24928908;30763027;24668262 False 3 50;50;0 1.108 True ENSG00000124140 ENSG00000124140 HGNC:13818 SLC13A3 gene SLC13A3 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384) Seizure;HP:0001250 30635937;35527102;https://www.neurology.org/doi/full/10.1212/NXG.0000000000200101 (No PMID) False 3 100;0;0 1.108 True ENSG00000158296 ENSG00000158296 HGNC:14430 SLC13A5 gene SLC13A5 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905;MONDO:0014392 Seizure;HP:0001250 24995870;26384929 False 3 100;0;0 1.108 True ENSG00000141485 ENSG00000141485 HGNC:23089 SLC16A2 gene SLC16A2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Allan-Herndon-Dudley syndrome, MIM# 300523 Seizure;HP:0001250 15980113;31410843;20301789 False 3 100;0;0 1.108 True ENSG00000147100 ENSG00000147100 HGNC:10923 SLC19A3 gene SLC19A3 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) MIM#607483 Seizure;HP:0001250 PMID: 37670342;23269594;26863430 False 3 100;0;0 1.108 True ENSG00000135917 ENSG00000135917 HGNC:16266 SLC1A2 gene SLC1A2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 41, MIM# 617105 Seizure;HP:0001250 27476654;28777935;30937933;23934111 False 3 100;0;0 1.108 True Other ENSG00000110436 ENSG00000110436 HGNC:10940 SLC1A3 gene SLC1A3 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 6, MIM# 612656 Seizure;HP:0001250 19139306;16116111;29208948;27829685;32741053 False 3 100;0;0 1.108 True ENSG00000079215 ENSG00000079215 HGNC:10941 SLC1A4 gene SLC1A4 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657;MONDO:0014725" Seizure;HP:0001250 29989513;27193218;26138499;26041762;25930971 False 3 100;0;0 1.108 True ENSG00000115902 ENSG00000115902 HGNC:10942 SLC25A1 gene SLC25A1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072 Seizure;HP:0001250 26870663;31527857;31808147;23561848;23393310 False 3 100;0;0 1.108 True ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A12 gene SLC25A12 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 39, MIM# 612949 Seizure;HP:0001250 19641205;24515575;35008954;32700846;31766059;31514314 False 3 100;0;0 1.108 True ENSG00000115840 ENSG00000115840 HGNC:10982 SLC25A22 gene SLC25A22 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 3, MIM# 609304 Seizure;HP:0001250 15592994;19780765;24596948;33821742;33342683;31285529 False 3 100;0;0 1.108 True ENSG00000177542 ENSG00000177542 HGNC:19954 SLC2A1 gene SLC2A1 Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal GLUT1 deficiency syndrome 1, infantile onset, severe, 606777;GLUT1 deficiency syndrome 2, childhood onset, 612126 Seizure;HP:0001250 18451999;20129935;10980529;20221955;31196579 False 3 100;0;0 1.108 True ENSG00000117394 ENSG00000117394 HGNC:11005 SLC32A1 gene SLC32A1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755;Developmental and epileptic encephalopathy 114, MIM# 620774 Seizure;HP:0001250 34038384;36073542 False 3 100;0;0 1.108 True ENSG00000101438 ENSG00000101438 HGNC:11018 SLC35A2 gene SLC35A2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy 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 IIm (MIM #300896) 30817854;Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) Seizure;HP:0001250 23561849;24115232;27743886;25778940;33407896 False 3 100;0;0 1.108 True ENSG00000102100 ENSG00000102100 HGNC:11022 SLC38A3 gene SLC38A3 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 102, MIM# 619881 Seizure;HP:0001250 34605855 False 3 100;0;0 1.108 True ENSG00000188338 ENSG00000188338 HGNC:18044 SLC39A8 gene SLC39A8 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIn , MIM#16721 Seizure;HP:0001250 26637978;26637979 False 3 100;0;0 1.108 True ENSG00000138821 ENSG00000138821 HGNC:20862 SLC46A1 gene SLC46A1 Expert Review Green;Literature;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Folate malabsorption, hereditary MIM# 229050;Decreased Ig levels;megaloblastic anaemia;failure to thrive;Immunodeficiency;if untreated for prolonged periods results in intellectual disability;oral mucositis;hypoimmunoglobulinaemia;recurrent infections;seizures;motor impairment;leukopaenia;thrombocytopaenia Seizure;HP:0001250 20301716 False 3 100;0;0 1.108 True ENSG00000076351 ENSG00000076351 HGNC:30521 SLC5A6 gene SLC5A6 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Developmental delay;epilepsy;neurodegeneration;Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973" Seizure;HP:0001250 31754459;27904971 False 3 100;0;0 1.108 True ENSG00000138074 ENSG00000138074 HGNC:11041 SLC6A1 gene SLC6A1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myoclonic-atonic epilepsy, MIM#616421 Seizure;HP:0001250 29315614 False 3 100;0;0 1.108 True ENSG00000157103 ENSG00000157103 HGNC:11042 SLC6A19 gene SLC6A19 Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hartnup disorder, MIM# 234500 Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000174358 ENSG00000174358 HGNC:27960 SLC6A8 gene SLC6A8 Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Cerebral creatine deficiency syndrome 1, MIM# 300352 Seizure;HP:0001250 27604308;16738945 False 3 100;0;0 1.108 True ENSG00000130821 ENSG00000130821 HGNC:11055 SLC9A6 gene SLC9A6 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked syndromic, Christianson type, MIM# 300243;MONDO:0010278 Seizure;HP:0001250 18342287;19377476;25044251;33278113;32569089;31879735 False 3 100;0;0 1.108 True ENSG00000198689 ENSG00000198689 HGNC:11079 SLITRK2 gene SLITRK2 Expert Review Green;Literature Genetic Epilepsy 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) Intellectual developmental disorder, X-linked 111, MIM# 301107 Seizure;HP:0001250 35840571 False 3 100;0;0 1.108 True ENSG00000185985 ENSG00000185985 HGNC:13449 SMARCA2 gene SMARCA2 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nicolaides-Baraitser syndrome, MIM# 601358 Seizure;HP:0001250 22366787;22426308;27665729 False 3 100;0;0 1.108 True ENSG00000080503 ENSG00000080503 HGNC:11098 SMARCB1 gene SMARCB1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 3, MIM# 614608;Epilepsy Seizure;HP:0001250 33006724;22426308;23906836;23929686 False 3 50;0;50 1.108 True ENSG00000099956 ENSG00000099956 HGNC:11103 SMARCC2 gene SMARCC2 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 8;OMIM #618362 Seizure;HP:0001250 30580808 False 3 100;0;0 1.108 True ENSG00000139613 ENSG00000139613 HGNC:11105 SMC1A gene SMC1A Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders Other Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044 Seizure;HP:0001250 31334757;28166369 False 3 100;0;0 1.108 True ENSG00000072501 ENSG00000072501 HGNC:11111 SMS gene SMS Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation X-linked Snyder-Robinson type, 309583 Seizure;HP:0001250 30237987 False 3 100;0;0 1.108 True ENSG00000102172 ENSG00000102172 HGNC:11123 SNAP25 gene SNAP25 Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, SNAP25-related Seizure;HP:0001250 25003006;29100083;28135719;29491473;25381298;17283335 False 3 100;0;0 1.108 True ENSG00000132639 ENSG00000132639 HGNC:11132 SNAP29 gene SNAP29 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome MIM#609528 Seizure;HP:0001250 PMID: 33977139 False 3 100;0;0 1.108 True ENSG00000099940 ENSG00000099940 HGNC:11133 SNF8 gene SNF8 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 115, MIM#620783 Seizure;HP:0001250 38423010 False 3 50;50;0 1.108 True ENSG00000159210 ENSG00000159210 HGNC:17028 SNORD118 gene SNORD118 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, brain calcifications, and cysts, MIM#614561 Seizure;HP:0001250 27571260 False 3 100;0;0 1.108 True ENSG00000200463 ENSG00000200463 HGNC:32952 SNX27 gene SNX27 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal intellectual disability;seizures Seizure;HP:0001250 25894286;31721175;21300787;23524343 False 3 100;0;0 1.108 True ENSG00000143376 ENSG00000143376 HGNC:20073 SON gene SON Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ZTTK syndrome MIM#617140 Seizure;HP:0001250 PMID: 37488749;27545680 False 3 100;0;0 1.108 True ENSG00000159140 ENSG00000159140 HGNC:11183 SP9 gene SP9 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, SP9-related Seizure;HP:0001250 PMID: 38288683 False 3 100;0;0 1.108 True ENSG00000217236 ENSG00000217236 HGNC:30690 SPATA5 gene SPATA5 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, hearing loss, and mental retardation syndrome, MIM# 616577 Seizure;HP:0001250 27246907;29343804;26299366 False 3 100;0;0 1.108 True ENSG00000145375 ENSG00000145375 HGNC:18119 SPATA5L1 gene SPATA5L1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616 Seizure;HP:0001250 34626583 False 3 100;0;0 1.108 True ENSG00000171763 ENSG00000171763 HGNC:28762 SPR gene SPR Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716 Seizure;HP:0001250 22522443;16650784;21431957;28189489 False 3 100;0;0 1.108 True ENSG00000116096 ENSG00000116096 HGNC:11257 SPTAN1 gene SPTAN1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 5, MIM# 613477 Seizure;HP:0001250 20493457;22258530;32811770 False 3 100;0;0 1.108 True ENSG00000197694 ENSG00000197694 HGNC:11273 SPTBN1 gene SPTBN1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay, impaired speech, and behavioural abnormalities, MIM# 619475 Seizure;HP:0001250 PMID: 34211179 PMID: 33847457 False 3 100;0;0 1.108 True ENSG00000115306 ENSG00000115306 HGNC:11275 SPTBN4 gene SPTBN4 Expert Review Green;Literature;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519 Seizure;HP:0001250 28540413;28940097;29861105;31230720;31857255 False 3 100;0;0 1.108 True ENSG00000160460 ENSG00000160460 HGNC:14896 SRCAP gene SRCAP Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities MIM#619595;Floating-Harbor syndrome MIM#136140 Seizure;HP:0001250 23193612;23621943 False 3 0;100;0 1.108 True ENSG00000080603 ENSG00000080603 HGNC:16974 ST3GAL5 gene ST3GAL5 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Salt and pepper developmental regression syndrome 609056;GM3 synthase deficiency, MONDO:0018274;Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Seizure;HP:0001250 23436467;22990144;15502825;27232954;30691927;30688114;30576498 False 3 100;0;0 1.108 True ENSG00000115525 ENSG00000115525 HGNC:10872 STAG1 gene STAG1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, autosomal dominant 47, MIM# 617635 Seizure;HP:0001250 28119487;34440290 False 3 100;0;0 1.108 True ENSG00000118007 ENSG00000118007 HGNC:11354 STAMBP gene STAMBP Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly-capillary malformation syndrome, MIM# 614261;MONDO:0013659 Seizure;HP:0001250 23542699;31638258;29907875;27531570;25692795;25266620 False 3 100;0;0 1.108 True ENSG00000124356 ENSG00000124356 HGNC:16950 STRADA gene STRADA Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087;Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611 Seizure;HP:0001250 17522105;27170158;28688840 False 3 100;0;0 1.108 True ENSG00000266173 ENSG00000266173 HGNC:30172 STX1A gene STX1A Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal neurodevelopmental disorder MONDO#0700092, STX1A-related Seizure;HP:0001250 37029317;36564538 False 3 100;0;0 1.108 True ENSG00000106089 ENSG00000106089 HGNC:11433 STX1B gene STX1B Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172 Seizure;HP:0001250 25362483;33677401 False 3 100;0;0 1.108 True ENSG00000099365 ENSG00000099365 HGNC:18539 STXBP1 gene STXBP1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 4, MIM# 612164 Seizure;HP:0001250 31855252 False 3 67;33;0 1.108 True Other ENSG00000136854 ENSG00000136854 HGNC:11444 SUCLA2 gene SUCLA2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791 Seizure;HP:0001250 15877282;17287286;17301081;23759946;33231368;33230181;28243576;27913098;27651038 False 3 100;0;0 1.108 True ENSG00000136143 ENSG00000136143 HGNC:11448 SUOX gene SUOX Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sulfite oxidase deficiency, MIM# 272300 Seizure;HP:0001250 9428520;15952210;31127934 False 3 100;0;0 1.108 True ENSG00000139531 ENSG00000139531 HGNC:11460 SURF1 gene SURF1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110 Seizure;HP:0001250 9843204;9837813;24027061 False 3 100;0;0 1.108 True ENSG00000148290 ENSG00000148290 HGNC:11474 SYN1 gene SYN1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491;Intellectual developmental disorder, X-linked 50, MIM# 300115 Seizure;HP:0001250 14985377;21441247;28973667;21441247;34243774 False 3 100;0;0 1.108 True ENSG00000008056 ENSG00000008056 HGNC:11494 SYNGAP1 gene SYNGAP1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, autosomal dominant 5, MIM # 612621 Seizure;HP:0001250 26079862 False 3 100;0;0 1.108 True ENSG00000197283 ENSG00000197283 HGNC:11497 SYNJ1 gene SYNJ1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 53, MIM# 617389 Seizure;HP:0001250 32435303;27435091;23804563;23804577;27496670;33841314 False 3 100;0;0 1.108 True ENSG00000159082 ENSG00000159082 HGNC:11503 SZT2 gene SZT2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 18, OMIM #615476 Seizure;HP:0001250 23932106;30560016;30359774;28556953;32402703 False 3 100;0;0 1.108 True ENSG00000198198 ENSG00000198198 HGNC:29040 TAF8 gene TAF8 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM# 619972 Seizure;HP:0001250 29648665;35759269 False 3 100;0;0 1.108 True ENSG00000137413 ENSG00000137413 HGNC:17300 TANC2 gene TANC2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder with autistic features and language delay, with or without seizures MIM#618906 Seizure;HP:0001250 PMID: 31616000 False 3 100;0;0 1.108 True ENSG00000170921 ENSG00000170921 HGNC:30212 TANGO2 gene TANGO2 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises recurrent with rhabdomyolysis cardiac arrhythmias and neurodegeneration, 616878 Seizure;HP:0001250 26805782;30245509 False 3 100;0;0 1.108 True ENSG00000183597 ENSG00000183597 HGNC:25439 TARS2 gene TARS2 Expert list;Expert Review Green;Literature;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 21 - 615918;Epilepsy Seizure;HP:0001250 33153448;24827421;34508595 False 3 50;50;0 1.108 True ENSG00000143374 ENSG00000143374 HGNC:30740 TBC1D24 gene TBC1D24 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 16 MIM#615338;DOORS syndrome MIM#220500;Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105;Myoclonic epilepsy, infantile, familial MIM#605021 Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000162065 ENSG00000162065 HGNC:29203 TBC1D2B gene TBC1D2B Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323;Global developmental delay;Intellectual disability;Seizures;Gingival overgrowth;Behavioral abnormality;Abnormality of the mandible;Abnormality of brain morphology;Abnormality of the eye;Hearing abnormality Seizure;HP:0001250 32623794 False 3 100;0;0 1.108 True ENSG00000167202 ENSG00000167202 HGNC:29183 TBCD gene TBCD Australian Genomics Health Alliance Epilepsy Flagship;Expert Review;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 Seizure;HP:0001250 27666370;27666374 False 3 100;0;0 1.108 True ENSG00000141556 ENSG00000141556 HGNC:11581 TBCK gene TBCK Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900 Seizure;HP:0001250 27040692;30103036;27040691 False 3 100;0;0 1.108 True ENSG00000145348 ENSG00000145348 HGNC:28261 TBL1XR1 gene TBL1XR1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, autosomal dominant 41, MIM# 616944;Pierpont syndrome, MIM# 602342 Seizure;HP:0001250 26769062;30365874;25425123;9450851;23160955;28687524;23176139;16007632 False 3 100;0;0 1.108 True ENSG00000177565 ENSG00000177565 HGNC:29529 TBX19 gene TBX19 Expert list;Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Adrenocorticotropic hormone deficiency - 201400 Seizure;HP:0001250 31998673 False 3 100;0;0 1.108 True ENSG00000143178 ENSG00000143178 HGNC:11596 TCF4 gene TCF4 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pitt-Hopkins syndrome, MIM# 610954 Seizure;HP:0001250 18728071;22934316 False 3 100;0;0 1.108 True ENSG00000196628 ENSG00000196628 HGNC:11634 TCP1 gene TCP1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021 Seizure;HP:0001250 39480921 False 3 100;0;0 1.108 True ENSG00000120438 ENSG00000120438 HGNC:11655 TDP2 gene TDP2 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 23, 616949 Seizure;HP:0001250 24658003;30109272;31410782 False 3 100;0;0 1.108 True ENSG00000111802 ENSG00000111802 HGNC:17768 TEFM gene TEFM Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 58, MIM# 620451 Seizure;HP:0001250 36823193 False 3 100;0;0 1.108 True ENSG00000172171 ENSG00000172171 HGNC:26223 TET3 gene TET3 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Beck-Fahrner syndrome MIM#618798 Seizure;HP:0001250 36192301 False 3 50;50;0 1.108 True ENSG00000187605 ENSG00000187605 HGNC:28313 TFE3 gene TFE3 Expert list;Expert Review Green Genetic Epilepsy 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) Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066;Intellectual disability;Epilepsy;Coarse facial features Seizure;HP:0001250 30595499;31833172;32409512 False 3 100;0;0 1.108 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000068323 ENSG00000068323 HGNC:11752 TIAM1 gene TIAM1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with language delay and seizures, MIM# 619908 Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000156299 ENSG00000156299 HGNC:11805 TIMM50 gene TIMM50 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type IX, MIM#617698 Seizure;HP:0001250 27573165;30190335;31058414 False 3 100;0;0 1.108 True ENSG00000105197 ENSG00000105197 HGNC:23656 TK2 gene TK2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM#609560;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069 Seizure;HP:0001250 25446393;16504786 False 3 100;0;0 1.108 True ENSG00000166548 ENSG00000166548 HGNC:11831 TMEM163 gene TMEM163 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypomyelinating leukodystrophy, MONDO:0019046 Seizure;HP:0001250 PMID: 35953447;35455965 False 3 100;0;0 1.108 True ENSG00000152128 ENSG00000152128 HGNC:25380 TMEM222 gene TMEM222 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with motor and speech delay and behavioural abnormalities, MIM# 619470;Motor delay;Delayed speech and language development;Intellectual disability;Generalized hypotonia;Broad-based gait;Abnormality of nervous system morphology;Seizures;Microcephaly;Behavioral abnormality Seizure;HP:0001250 33824500 False 3 50;50;0 1.108 True ENSG00000186501 ENSG00000186501 HGNC:25363 TMEM63B gene TMEM63B Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted developmental and epileptic encephalopathy, MONDO:0100062, TMEM63B-related Seizure;HP:0001250 37421948 False 3 100;0;0 1.108 True ENSG00000137216 ENSG00000137216 HGNC:17735 TMTC3 gene TMTC3 Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lissencephaly 8, MIM#617255 Seizure;HP:0001250 27773428;28973161;32973946 False 3 100;0;0 1.108 True ENSG00000139324 ENSG00000139324 HGNC:26899 TMX2 gene TMX2 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly;ID;brain malformations;seizures Seizure;HP:0001250 31735293;31586943 False 3 100;0;0 1.108 True ENSG00000213593 ENSG00000213593 HGNC:30739 TNPO2 gene TNPO2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556 Seizure;HP:0001250 34314705 False 3 100;0;0 1.108 True Other ENSG00000105576 ENSG00000105576 HGNC:19998 TPK1 gene TPK1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) MIM#614458 Seizure;HP:0001250 PMID: 37622082 False 3 100;0;0 1.108 True ENSG00000196511 ENSG00000196511 HGNC:17358 TPP1 gene TPP1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 2, MIM# 204500;MONDO:0008769 Seizure;HP:0001250 9295267;18684116;23418007;26224725;31283065 False 3 100;0;0 1.108 True ENSG00000166340 ENSG00000166340 HGNC:2073 TRA2B gene TRA2B Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, TRA2B-related (MONDO#0700092) Seizure;HP:0001250 PMID: 36549593 False 3 100;0;0 1.108 True ENSG00000136527 ENSG00000136527 HGNC:10781 TRAK1 gene TRAK1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 68, MIM# 618201 Seizure;HP:0001250 28940097;28364549;29846532;28924745 False 3 100;0;0 1.108 True ENSG00000182606 ENSG00000182606 HGNC:29947 TRAPPC10 gene TRAPPC10 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027 Seizure;HP:0001250 PMID: 35298461;30167849 False 3 100;0;0 1.108 True ENSG00000160218 ENSG00000160218 HGNC:11868 TRAPPC12 gene TRAPPC12 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669 Seizure;HP:0001250 28777934 False 3 0;100;0 1.108 True ENSG00000171853 ENSG00000171853 HGNC:24284 TRAPPC4 gene TRAPPC4 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, MIM# 618741 Seizure;HP:0001250 31794024 False 3 100;0;0 1.108 True ENSG00000196655 ENSG00000196655 HGNC:19943 TRAPPC6B gene TRAPPC6B Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862 Seizure;HP:0001250 28626029;28397838;31687267 False 3 100;0;0 1.108 True ENSG00000182400 ENSG00000182400 HGNC:23066 TREM2 gene TREM2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 MIM#618193 Seizure;HP:0001250 PMID: 36820836;24910390 False 3 100;0;0 1.108 True ENSG00000095970 ENSG00000095970 HGNC:17761 TREX1 gene TREX1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aicardi-Goutieres syndrome 1, dominant and recessive;Chilblain lupus;{Systemic lupus erythematosus, susceptibility to};Vasculopathy, retinal, with cerebral leukodystrophy Seizure;HP:0001250 21937424 False 3 100;0;0 1.108 True ENSG00000213689 ENSG00000213689 HGNC:12269 TRIM8 gene TRIM8 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428;Intellectual disability;Seizures Seizure;HP:0001250 30244534;27346735;23934111 False 3 100;0;0 1.108 True ENSG00000171206 ENSG00000171206 HGNC:15579 TRIO gene TRIO Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061;Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MIM#618825 Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000038382 ENSG00000038382 HGNC:12303 TRIT1 gene TRIT1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 35 MIM#617873 Seizure;HP:0001250 PMID: 36047296;36049610 False 3 100;0;0 1.108 True ENSG00000043514 ENSG00000043514 HGNC:20286 TRMT1 gene TRMT1 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Intellectual developmental disorder, autosomal recessive 68 MIM#618302" Seizure;HP:0001250 PMID: 31898845;26308914;30289604 False 3 100;0;0 1.108 True ENSG00000104907 ENSG00000104907 HGNC:25980 TRMT10A gene TRMT10A Expert list;Expert Review;Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033 Seizure;HP:0001250 26535115;4995728 False 3 100;0;0 1.108 True ENSG00000145331 ENSG00000145331 HGNC:28403 TRPM3 gene TRPM3 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, MIM# 620224 Seizure;HP:0001250 31278393 False 3 100;0;0 1.108 True ENSG00000083067 ENSG00000083067 HGNC:17992 TRPM6 gene TRPM6 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 1, intestinal, MIM#602014 Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000119121 ENSG00000119121 HGNC:17995 TRPM7 gene TRPM7 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial primary hypomagnesaemia, MONDO:0018100, TRPM7-related Seizure;HP:0001250 35561741;35712613;39099563;37188671 False 3 100;0;0 1.108 True ENSG00000092439 ENSG00000092439 HGNC:17994 TRRAP gene TRRAP Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay with or without dysmorphic facies and autism, MIM#618454 Seizure;HP:0001250 30827496;28628100 False 3 100;0;0 1.108 True ENSG00000196367 ENSG00000196367 HGNC:12347 TSC1 gene TSC1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis 1, MIM# 191100 Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis 2, MIM# 613254 Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000103197 ENSG00000103197 HGNC:12363 TSEN2 gene TSEN2 Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 2F, MIM#617026 Seizure;HP:0001250 23562994;18711368;20952379 False 3 50;0;50 1.108 True ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN54 gene TSEN54 Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2A, MIM# 277470 Seizure;HP:0001250 False 3 50;0;50 1.108 True ENSG00000182173 ENSG00000182173 HGNC:27561 TSFM gene TSFM Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3, MIM#610505 Seizure;HP:0001250 False 3 100;0;0 1.108 True ENSG00000123297 ENSG00000123297 HGNC:12367 TSPYL1 gene TSPYL1 Expert list;Expert Review Green;Literature;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sudden infant death with dysgenesis of the testes syndrome - 608800;sudden infant death-dysgenesis of the testes syndrome MONDO:0012124 Seizure;HP:0001250 32885560;15273283;33075815;36082874 False 3 75;25;0 1.108 True ENSG00000189241 ENSG00000189241 HGNC:12382 TUBA1A gene TUBA1A Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 3, MIM# 611603 Seizure;HP:0001250 False 3 67;0;33 1.108 True ENSG00000167552 ENSG00000167552 HGNC:20766 TUBB gene TUBB Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771 Seizure;HP:0001250 23246003;32085672 False 3 100;0;0 1.108 True ENSG00000196230 ENSG00000196230 HGNC:20778 TUBB2A gene TUBB2A Expert list;Expert Review Green;Royal Melbourne Hospital Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 5, MIM#615763 Seizure;HP:0001250 24702957;25326637 False 3 50;0;50 1.108 True ENSG00000137267 ENSG00000137267 HGNC:12412 TUBB2B gene TUBB2B Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031 Seizure;HP:0001250 19465910;22333901;26732629;33082561 False 3 100;0;0 1.108 True ENSG00000137285 ENSG00000137285 HGNC:30829 TUBB3 gene TUBB3 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039 Seizure;HP:0001250 20829227;25059107;33318778 False 3 100;0;0 1.108 True ENSG00000258947 ENSG00000258947 HGNC:20772 TUBB4A gene TUBB4A Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukodystrophy, hypomyelinating, 6, OMIM # 612438 Seizure;HP:0001250 24850488;23582646;23424103;23595291;33084096;32943487 False 3 100;0;0 1.108 True ENSG00000104833 ENSG00000104833 HGNC:20774 TUBG1 gene TUBG1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412 Seizure;HP:0001250 23603762;31086189 False 3 100;0;0 1.108 True ENSG00000131462 ENSG00000131462 HGNC:12417 TUBGCP2 gene TUBGCP2 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM # 618737 Seizure;HP:0001250 31630790 False 3 100;0;0 1.108 True ENSG00000130640 ENSG00000130640 HGNC:18599 TUBGCP6 gene TUBGCP6 Expert list;Expert Review Green;Literature;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 1 - 251270;Epilepsy Seizure;HP:0001250 22279524;33453472 False 3 100;0;0 1.108 True ENSG00000128159 ENSG00000128159 HGNC:18127 TWNK gene TWNK Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) MIM#271245;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286 Seizure;HP:0001250 PMID: 19304794 False 3 100;0;0 1.108 True ENSG00000107815 ENSG00000107815 HGNC:1160 U2AF2 gene U2AF2 Expert list;Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535 Seizure;HP:0001250 34112922;37092751;36747105;37134193 False 3 33;33;33 1.108 True ENSG00000063244 ENSG00000063244 HGNC:23156 UBA5 gene UBA5 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 44 (MIM#617132) Seizure;HP:0001250 28965491;27545674;27545681 False 3 100;0;0 1.108 True ENSG00000081307 ENSG00000081307 HGNC:23230 UBAP2L gene UBAP2L Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494;Delayed speech and language development;Motor delay;Intellectual disability;Autistic behavior;Seizures;Microcephaly;Abnormality of head or neck;Short stature;Abnormality of the skeletal system Seizure;HP:0001250 35977029 False 3 50;50;0 1.108 True ENSG00000143569 ENSG00000143569 HGNC:29877 UBE2A gene UBE2A Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked syndromic, Nascimento type 300860 Seizure;HP:0001250 24053514;16909393 False 3 100;0;0 1.108 True ENSG00000077721 ENSG00000077721 HGNC:12472 UBE3A gene UBE3A Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Angelman syndrome, MIM#105830 Seizure;HP:0001250 30842224 False 3 50;50;0 1.108 True ENSG00000114062 ENSG00000114062 HGNC:12496 UBR5 gene UBR5 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, UBR5-related Seizure;HP:0001250 39721588 False 3 100;0;0 1.108 True ENSG00000104517 ENSG00000104517 HGNC:16806 UBR7 gene UBR7 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Li-Campeau syndrome, MIM# 619189;Intellectual disability;epilepsy;hypothyroidism;congenital anomalies;dysmorphic features Seizure;HP:0001250 33340455 False 3 100;0;0 1.108 True ENSG00000012963 ENSG00000012963 HGNC:20344 UFM1 gene UFM1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 14, MIM# 617899 Seizure;HP:0001250 28931644;29868776 False 3 100;0;0 1.108 True ENSG00000120686 ENSG00000120686 HGNC:20597 UFSP2 gene UFSP2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 106, MIM# 620028;Abnormal muscle tone;Seizures;Global developmental delay;Delayed speech and language development;Intellectual disability;Strabismus Seizure;HP:0001250 33473208 False 3 50;50;0 1.108 True ENSG00000109775 ENSG00000109775 HGNC:25640 UGDH gene UGDH Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 84 - MIM #618792 Seizure;HP:0001250 32001716 False 3 100;0;0 1.108 True ENSG00000109814 ENSG00000109814 HGNC:12525 UGP2 gene UGP2 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy;intellectual disability;microcephaly Seizure;HP:0001250 31820119 False 3 100;0;0 1.108 True ENSG00000169764 ENSG00000169764 HGNC:12527 UMPS gene UMPS Expert list;Expert Review;Expert Review Green;Literature;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Orotic aciduria - 258900;Epilepsy Seizure;HP:0001250 25757096;33489760 False 3 100;0;0 1.108 True ENSG00000114491 ENSG00000114491 HGNC:12563 UNC13A gene UNC13A Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO#0700092, UNC13A-related Seizure;HP:0001250 28192369 False 3 100;0;0 1.108 True ENSG00000130477 ENSG00000130477 HGNC:23150 UNC79 gene UNC79 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO:0700092), UNC79-related Seizure;HP:0001250 PMID:37183800 False 3 0;100;0 1.108 True ENSG00000133958 ENSG00000133958 HGNC:19966 UNC80 gene UNC80 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801;MONDO:0014777 Seizure;HP:0001250 26708751;26708753;26545877;32620897;30167850;30167850 False 3 100;0;0 1.108 True ENSG00000144406 ENSG00000144406 HGNC:26582 USP18 gene USP18 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 2, MIM#617397 Seizure;HP:0001250 12833411;27325888;31940699 False 3 100;0;0 1.108 True ENSG00000184979 ENSG00000184979 HGNC:12616 USP25 gene USP25 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Epilepsy, idiopathic generalized, susceptibility to, 19} MIM#621064 Seizure;HP:0001250 38875478 False 3 100;0;0 1.108 True ENSG00000155313 ENSG00000155313 HGNC:12624 VAMP2 gene VAMP2 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760;Cortical visual impairment;Seizures;Stereotypic behaviour;Generalized hypotonia;Intellectual disability" Seizure;HP:0001250 30929742 False 3 100;0;0 1.108 True ENSG00000220205 ENSG00000220205 HGNC:12643 VARS gene VARS Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy;OMIM #617802 Seizure;HP:0001250 30755616;30755602;26539891;29691655;30275004 False 3 100;0;0 1.108 True ENSG00000204394 ENSG00000204394 HGNC:12651 VARS2 gene VARS2 Expert list;Expert Review Green;Literature;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 20, 615917;Epilepsy Seizure;HP:0001250 27502409;29137650;31064326;31623496 False 3 100;0;0 1.108 True ENSG00000137411 ENSG00000137411 HGNC:21642 VPS11 gene VPS11 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 12, MIM#616683 Seizure;HP:0001250 27120463;26307567;27473128 False 3 100;0;0 1.108 True ENSG00000160695 ENSG00000160695 HGNC:14583 VPS13A gene VPS13A Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Choreoacanthocytosis MIM#200150 Seizure;HP:0001250 26813249;30140251;31192303 False 3 100;0;0 1.108 True ENSG00000197969 ENSG00000197969 HGNC:1908 VPS4A gene VPS4A Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CIMDAG syndrome MIM# 619273 Seizure;HP:0001250 33186543;33186545 False 3 100;0;0 1.108 True Other ENSG00000132612 ENSG00000132612 HGNC:13488 VPS50 gene VPS50 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685;Neonatal cholestatic liver disease;Failure to thrive;Profound global developmental delay;Postnatal microcephaly;Seizures;Abnormality of the corpus callosum Seizure;HP:0001250 34037727;38876772 False 3 33;67;0 1.108 True ENSG00000004766 ENSG00000004766 HGNC:25956 WAC gene WAC Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Desanto-Shinawi syndrome MIM#616708 Seizure;HP:0001250 PMID: 36420948 False 3 100;0;0 1.108 True ENSG00000095787 ENSG00000095787 HGNC:17327 WARS2 gene WARS2 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710 Seizure;HP:0001250 29783990;28236339;29120065;28650581;28905505 False 3 100;0;0 1.108 True ENSG00000116874 ENSG00000116874 HGNC:12730 WASF1 gene WASF1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with absent language and variable seizures , MIM#618707 Seizure;HP:0001250 29961568;34845217;34478686;34356165 False 3 100;0;0 1.108 True ENSG00000112290 ENSG00000112290 HGNC:12732 WDR26 gene WDR26 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Skraban-Deardorff syndrome MIM# 617616 Seizure;HP:0001250 28686853;33675273 False 3 100;0;0 1.108 True ENSG00000162923 ENSG00000162923 HGNC:21208 WDR37 gene WDR37 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurooculocardiogenitourinary syndrome, MIM# 618652 Seizure;HP:0001250 31327508;31327508 False 3 100;0;0 1.108 True ENSG00000047056 ENSG00000047056 HGNC:31406 WDR45 gene WDR45 Australian Genomics Health Alliance Epilepsy Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy 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) Neurodegeneration with brain iron accumulation 5, MIM# 300894;Rett syndrome;Rett-like phenotypes Seizure;HP:0001250 23176820;30842224 False 3 100;0;0 1.108 True ENSG00000196998 ENSG00000196998 HGNC:28912 WDR45B gene WDR45B Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977 Seizure;HP:0001250 21937992;28503735;27431290 False 3 100;0;0 1.108 True ENSG00000141580 ENSG00000141580 HGNC:25072 WDR47 gene WDR47 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Complex neurodevelopmental disorder MONDO:0100038, WDR47-related Seizure;HP:0001250 39609633 False 3 100;0;0 1.108 True ENSG00000085433 ENSG00000085433 HGNC:29141 WDR62 gene WDR62 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317;MONDO:0011435 Seizure;HP:0001250 21834044;20890278;20729831 False 3 100;0;0 1.108 True ENSG00000075702 ENSG00000075702 HGNC:24502 WDR73 gene WDR73 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 1 MIM#251300 Seizure;HP:0001250 25466283;26123727;25873735;26070982;30315938 False 3 100;0;0 1.108 True ENSG00000177082 ENSG00000177082 HGNC:25928 WNK3 gene WNK3 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Prieto syndrome, MIM# 309610 Seizure;HP:0001250 35678782 False 3 100;0;0 1.108 True ENSG00000196632 ENSG00000196632 HGNC:14543 WWOX gene WWOX Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 28, MIM# 616211 Seizure;HP:0001250 24456803;25411445;32051108;32037574;30356099;29808465 False 3 100;0;0 1.108 True ENSG00000186153 ENSG00000186153 HGNC:12799 YIF1B gene YIF1B Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Kaya-Barakat-Masson syndrome, MIM# 619125;Central hypotonia;Failure to thrive;Microcephaly;Global developmental delay;Intellectual disability;Seizures;Spasticity;Abnormality of movement Seizure;HP:0001250 32006098 False 3 50;50;0 1.108 True ENSG00000167645 ENSG00000167645 HGNC:30511 YIPF5 gene YIPF5 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278 Seizure;HP:0001250 33164986 False 3 100;0;0 1.108 True ENSG00000145817 ENSG00000145817 HGNC:24877 YWHAG gene YWHAG Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 56, (MIMI#617665) Seizure;HP:0001250 33393734;33590706;31926053;33767733 False 3 100;0;0 1.108 True ENSG00000170027 ENSG00000170027 HGNC:12852 ZBTB18 gene ZBTB18 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 22, MIM# 612337 Seizure;HP:0001250 29573576 False 3 100;0;0 1.108 True ENSG00000179456 ENSG00000179456 HGNC:13030 ZBTB47 gene ZBTB47 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (MONDO#0700092), ZBTB47-related Seizure;HP:0001250 37743782 False 3 100;0;0 1.108 True ENSG00000114853 ENSG00000114853 HGNC:26955 ZDHHC9 gene ZDHHC9 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked syndromic, Raymond type, MIM#300799 Seizure;HP:0001250 26000327 False 3 100;0;0 1.108 True ENSG00000188706 ENSG00000188706 HGNC:18475 ZEB2 gene ZEB2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mowat-Wilson syndrome, MIM# 235730;MONDO:0009341 Seizure;HP:0001250 29300384;27831545;24715670;19215041;17958891 False 3 100;0;0 1.108 True ENSG00000169554 ENSG00000169554 HGNC:14881 ZFHX3 gene ZFHX3 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal developmental and epileptic encephalopathy MONDO:0100062 Seizure;HP:0001250 38508705 False 3 100;0;0 1.108 True ENSG00000140836 ENSG00000140836 HGNC:777 ZMYND11 gene ZMYND11 Expert list;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 30 MIM# 616083 Seizure;HP:0001250 32097528;34216016 False 3 100;0;0 1.108 True ENSG00000015171 ENSG00000015171 HGNC:16966 ZMYND8 gene ZMYND8 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related;Delayed speech and language development;Motor delay;Intellectual disability;Abnormality of cardiovascular system morphology;Hearing abnormality;Abnormality of vision;Abnormality of the face;Seizures Seizure;HP:0001250 35916866;32530565 False 3 100;0;0 1.108 True ENSG00000101040 ENSG00000101040 HGNC:9397 ZNF142 gene ZNF142 Expert list;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM#618425 Seizure;HP:0001250 31036918 False 3 100;0;0 1.108 True ENSG00000115568 ENSG00000115568 HGNC:12927 ZNF335 gene ZNF335 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 10, primary, autosomal recessive (MIM#615095) Seizure;HP:0001250 23178126;27540107;29652087 False 3 100;0;0 1.108 True ENSG00000198026 ENSG00000198026 HGNC:15807 ZNF526 gene ZNF526 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dentici-Novelli neurodevelopmental syndrome, MIM# 619877 Seizure;HP:0001250 21937992;25558065;33397746 False 3 100;0;0 1.108 True ENSG00000167625 ENSG00000167625 HGNC:29415 ZNHIT3 gene ZNHIT3 Expert Review;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal PEHO syndrome, MIM# 260565 Seizure;HP:0001250 28335020;28335020;31048081 False 3 100;0;0 1.108 True ENSG00000108278 ENSG00000273611 HGNC:12309 ZSWIM6 gene ZSWIM6 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acromelic frontonasal dysostosis MIM#603671;Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features MIM#617865 Seizure;HP:0001250 PMID: 29198722;33958584 False 3 100;0;0 1.108 True ENSG00000130449 ENSG00000130449 HGNC:29316 AARS2 gene AARS2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 8, 614096;Leukoencephalopathy progressive with ovarian failure, 615889 Seizure;HP:0001250 21549344;25817015;32571458;24808023 False 2 0;100;0 1.108 True ENSG00000124608 ENSG00000124608 HGNC:21022 ABHD16A gene ABHD16A Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 86, autosomal recessive, MIM# 619735;seizures;myoclonic seizures;developmental delay Seizure;HP:0001250 (PMID: 34587489,34489854;32462874) False 2 0;50;50 1.108 True ENSG00000204427 ENSG00000204427 HGNC:13921 ADAT3 gene ADAT3 Expert list;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation autosomal recessive 36, 615286 Seizure;HP:0001250 26842963;23620220;30296593 False 2 0;100;0 1.108 True ENSG00000213638 ENSG00000213638 HGNC:25151 ADGRL1 gene ADGRL1 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065 Seizure;HP:0001250 PMID: 35907405 False 2 0;100;0 1.108 True ENSG00000072071 ENSG00000072071 HGNC:20973 ADGRV1 gene ADGRV1 Expert Review;Expert Review Amber;Expert Review Green Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myoclonic epilepsy;febrile seizures;epilepsy;Rolandic epilepsy Seizure;HP:0001250 29266188;29261713;32962041;34160719 False 2 50;50;0 1.108 True ENSG00000164199 ENSG00000164199 HGNC:17416 AP3D1 gene AP3D1 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 10, MIM# 617050 Seizure;HP:0001250 (PMID: 26744459;30472485;19032734;36445457 False 2 0;100;0 1.108 True ENSG00000065000 ENSG00000065000 HGNC:568 AQP4 gene AQP4 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 Seizure;HP:0001250 PMID: 37143309 False 2 0;100;0 1.108 True ENSG00000171885 ENSG00000171885 HGNC:637 ATP5A1 gene ATP5A1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 22 616045;Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228 Seizure;HP:0001250 23599390 False 2 0;100;0 1.108 True ENSG00000152234 ENSG00000152234 HGNC:823 ATP5E gene ATP5E Expert list;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053 Seizure;HP:0001250 PMID: 34954817, PMID: 22231385 False 2 0;100;0 1.108 True ENSG00000124172 ENSG00000124172 HGNC:838 B4GAT1 gene B4GAT1 Expert list;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM#615287 Seizure;HP:0001250 PMID 23877401, PMID: 23359570 False 2 0;100;0 1.108 True ENSG00000174684 ENSG00000174684 HGNC:15685 BICD2 gene BICD2 Expert list;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Neurodevelopmental disorder, BICD2-related (MONDO#0700092) Seizure;HP:0001250 PMID: 35896821, PMID: 28635954, PMID: 32057122, PMID: 25497877, PMID: 35338243 False 2 0;100;0 1.108 True ENSG00000185963 ENSG00000185963 HGNC:17208 CACNB4 gene CACNB4 Expert list;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Epilepsy, idiopathic generalized, susceptibility to, 9} 607682;{Epilepsy, juvenile myoclonic, susceptibility to, 6} 607682" Seizure;HP:0001250 10762541;35813387;31056551;22892567 False 2 0;100;0 1.108 True ENSG00000182389 ENSG00000182389 HGNC:1404 CAMK2D gene CAMK2D Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (MONDO#0700092), CAMK2D-related Seizure;HP:0001250 38272033 False 2 0;100;0 1.108 True ENSG00000145349 ENSG00000145349 HGNC:1462 CCT6A gene CCT6A Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, CCT6A-related Seizure;HP:0001250 39480921 False 2 0;100;0 1.108 True ENSG00000146731 ENSG00000146731 HGNC:1620 CDC42BPB gene CDC42BPB Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841 Seizure;HP:0001250 32031333 False 2 0;100;0 1.108 True ENSG00000198752 ENSG00000198752 HGNC:1738 CDK5 gene CDK5 Expert list;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Lissencephaly 7 with cerebellar hypoplasia MIM#616342" Seizure;HP:0001250 25560765 False 2 0;100;0 1.108 True ENSG00000164885 ENSG00000164885 HGNC:1774 COG3 gene COG3 Expert list;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIbb, MIM# 620546 Seizure;HP:0001250 PMID: 37711075 False 2 0;100;0 1.108 True ENSG00000136152 ENSG00000136152 HGNC:18619 COG4 gene COG4 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIj, MIM#613489 Seizure;HP:0001250 False 2 0;100;0 1.108 True ENSG00000103051 ENSG00000103051 HGNC:18620 COG6 gene COG6 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 6, MIM#614650 Seizure;HP:0001250 False 2 0;100;0 1.108 True ENSG00000133103 ENSG00000133103 HGNC:18621 COG8 gene COG8 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIh, 611182 Seizure;HP:0001250 28619360;17220172;17331980 False 2 50;50;0 1.108 True ENSG00000213380 ENSG00000213380 HGNC:18623 COLGALT1 gene COLGALT1 Expert Review;Expert Review Amber;Expert Review Green;Other Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brain small vessel disease 3 MIM#618360 Seizure;HP:0001250 30412317;33709034;31759980 False 2 50;50;0 1.108 True ENSG00000130309 ENSG00000130309 HGNC:26182 COQ6 gene COQ6 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 6, MIM#614650 Seizure;HP:0001250 21540551 False 2 50;50;0 1.108 True ENSG00000119723 ENSG00000119723 HGNC:20233 COX10 gene COX10 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, MIM#220110 Seizure;HP:0001250 10767350 False 2 0;100;0 1.108 True ENSG00000006695 ENSG00000006695 HGNC:2260 COX15 gene COX15 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2;MIM#615119 and Leigh syndrome #256000 Seizure;HP:0001250 21412973;12474143;15863660;15235026 False 2 0;100;0 1.108 True ENSG00000014919 ENSG00000014919 HGNC:2263 CP gene CP Expert list;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290" Seizure;HP:0001250 PMID: 32741407, PMID: 18200628 False 2 0;100;0 1.108 True ENSG00000047457 ENSG00000047457 HGNC:2295 CUL3 gene CUL3 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with or without autism or seizures, MIM# 619239;Global developmental delay;Intellectual disability;Seizures;Abnormality of cardiovascular system morphology;Abnormality of the palate Seizure;HP:0001250 32341456 False 2 0;100;0 1.108 True ENSG00000036257 ENSG00000036257 HGNC:2553 DALRD3 gene DALRD3 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Epileptic encephalopathy;Epileptic encephalopathy, early infantile, 86 618910" Seizure;HP:0001250 32427860;39482881 False 2 0;100;0 1.108 True ENSG00000178149 ENSG00000178149 HGNC:25536 DARS2 gene DARS2 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105" Seizure;HP:0001250 17384640;15002045;16788019;30352563;34104671 False 2 0;50;50 1.108 True ENSG00000117593 ENSG00000117593 HGNC:25538 DHFR gene DHFR Expert Review;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839 Seizure;HP:0001250 21310276;21310277 False 2 0;100;0 1.108 True ENSG00000228716 ENSG00000228716 HGNC:2861 DNAJC6 gene DNAJC6 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease 19b, early-onset, MIM#615528 Seizure;HP:0001250 23211418 False 2 50;50;0 1.108 True ENSG00000116675 ENSG00000116675 HGNC:15469 DPM2 gene DPM2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, MIM#615042 Seizure;HP:0001250 23109149 False 2 0;100;0 1.108 True ENSG00000136908 ENSG00000136908 HGNC:3006 DROSHA gene DROSHA Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (MONDO#0700092), DROSHA-related Seizure;HP:0001250 35405010 False 2 0;100;0 1.108 True ENSG00000113360 ENSG00000113360 HGNC:17904 DTYMK gene DTYMK Expert Review;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847) Seizure;HP:0001250 False 2 0;100;0 1.108 True ENSG00000168393 ENSG00000168393 HGNC:3061 EMX2 gene EMX2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schizencephaly, MIM# 269160 Seizure;HP:0001250 8528262;9359037;9153481;9153481;18409201 False 2 0;100;0 1.108 True ENSG00000170370 ENSG00000170370 HGNC:3341 FAM50A gene FAM50A Expert Review Amber;Expert Review Green;Literature Genetic Epilepsy 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 syndrome, X-linked, Armfield type (MIM #300261) Seizure;HP:0001250 32703943 False 2 0;100;0 1.108 True ENSG00000071859 ENSG00000071859 HGNC:18786 FAR1 gene FAR1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154 Seizure;HP:0001250 25439727 False 2 0;100;0 1.108 True ENSG00000197601 ENSG00000197601 HGNC:26222 FKRP gene FKRP Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153 Seizure;HP:0001250 False 2 50;50;0 1.108 True ENSG00000181027 ENSG00000181027 HGNC:17997 FRA10AC1 gene FRA10AC1 Expert Review;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113" Seizure;HP:0001250 34694367;35871492;35821753 False 2 0;100;0 1.108 True ENSG00000148690 ENSG00000148690 HGNC:1162 GATAD2B gene GATAD2B Expert Review;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 18, OMIM # 615074 Seizure;HP:0001250 32688057 False 2 0;100;0 1.108 True ENSG00000143614 ENSG00000143614 HGNC:30778 GATM gene GATM Expert Review;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 3, MIM# 612718 Seizure;HP:0001250 36856349;12468279;20682460;22386973 False 2 0;100;0 1.108 True ENSG00000171766 ENSG00000171766 HGNC:4175 GMPPA gene GMPPA Expert list;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) Seizure;HP:0001250 24035193;28574218 False 2 0;100;0 1.108 True ENSG00000144591 ENSG00000144591 HGNC:22923 GPSM2 gene GPSM2 Expert list;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Chudley-McCullough syndrome, MIM# 604213 Seizure;HP:0001250 20602914;22578326;28387217;27180139;27064331 False 2 0;100;0 1.108 True ENSG00000121957 ENSG00000121957 HGNC:29501 HCCS gene HCCS Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders Other Linear skin defects with multiple congenital anomalies 1, 309801 Seizure;HP:0001250 17033964 False 2 0;100;0 1.108 True ENSG00000004961 ENSG00000004961 HGNC:4837 HDAC8 gene HDAC8 Expert list;Expert Review Amber Genetic Epilepsy 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) Cornelia de Lange syndrome 5, MIM# 300882 Seizure;HP:0001250 False 2 0;100;0 1.108 True ENSG00000147099 ENSG00000147099 HGNC:13315 HEATR5B gene HEATR5B Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal pontocerebellar hypoplasia;intellectual disability;seizures Seizure;HP:0001250 33824466 False 2 0;100;0 1.108 True ENSG00000008869 ENSG00000008869 HGNC:29273 HNRNPK gene HNRNPK Expert list;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Au-Kline syndrome MIM#616580 Seizure;HP:0001250 30998304;26173930;29904177;26954065;28771707 False 2 0;100;0 1.108 True ENSG00000165119 ENSG00000165119 HGNC:5044 HOXA1 gene HOXA1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536 Seizure;HP:0001250 False 2 0;100;0 1.108 True ENSG00000105991 ENSG00000105991 HGNC:5099 HPRT1 gene HPRT1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lesch-Nyhan syndrome Seizure;HP:0001250 27858372 False 2 50;50;0 1.108 True ENSG00000165704 ENSG00000165704 HGNC:5157 JAKMIP1 gene JAKMIP1 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (MONDO#0700092), JAKMIP1-related Seizure;HP:0001250 29158550;26627310;27799067 False 2 0;100;0 1.108 True ENSG00000152969 ENSG00000152969 HGNC:26460 JMJD1C gene JMJD1C Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability (MONDO#0001071), JMJD1C-related Seizure;HP:0001250 PMID: 32996679;26181491;31954878 False 2 0;100;0 1.108 True ENSG00000171988 ENSG00000171988 HGNC:12313 KCNB2 gene KCNB2 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, KCNB2-related Seizure;HP:0001250 38503299 False 2 0;100;0 1.108 True ENSG00000182674 ENSG00000182674 HGNC:6232 KCNJ3 gene KCNJ3 Expert list;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy (MONDO#0005027), KCNJ3-related Seizure;HP:0001250 PMID: 37963718 False 2 0;100;0 1.108 True ENSG00000162989 ENSG00000162989 HGNC:6264 KIF4A gene KIF4A Expert Review;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 100 MIM#300923 Seizure;HP:0001250 24812067;34346154;36482480 False 2 0;100;0 1.108 True ENSG00000090889 ENSG00000090889 HGNC:13339 LARGE1 gene LARGE1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM#613154;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM#608840 Seizure;HP:0001250 False 2 50;50;0 1.108 True ENSG00000133424 ENSG00000133424 HGNC:6511 LMNB1 gene LMNB1 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Microcephaly;Short stature;Seizures;Abnormality of the corpus callosum;Cortical gyral simplification;Feeding difficulties;Scoliosis Seizure;HP:0001250 32910914 False 2 0;100;0 1.108 True 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 LMNB2 gene LMNB2 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Epilepsy, progressive myoclonic, 9 MIM#616540 Seizure;HP:0001250 PMID: 33783721;25954030;34466237 False 2 0;100;0 1.108 True ENSG00000176619 ENSG00000176619 HGNC:6638 LRPPRC gene LRPPRC Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) (MIM#220111) Seizure;HP:0001250 21266382;26510951;38046674;29152527 False 2 0;100;0 1.108 True ENSG00000138095 ENSG00000138095 HGNC:15714 LYST gene LYST Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome, MIM#214500 Seizure;HP:0001250 10450360 False 2 50;50;0 1.108 True ENSG00000143669 ENSG00000143669 HGNC:1968 MANBA gene MANBA Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mannosidosis, beta, MIM#248510 Seizure;HP:0001250 12468273;22369051 False 2 0;100;0 1.108 True ENSG00000109323 ENSG00000109323 HGNC:6831 MAPK8IP3 gene MAPK8IP3 Expert Review Amber;Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with or without variable brain abnormalities MIM#618443 Seizure;HP:0001250 PMID: 30612693 False 2 50;50;0 1.108 True ENSG00000138834 ENSG00000138834 HGNC:6884 MDH1 gene MDH1 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal epilepsy;microcephaly;intellectual disability;Epileptic encephalopathy, early infantile, 88, MIM#618959 Seizure;HP:0001250 31538237 False 2 0;100;0 1.108 True ENSG00000014641 ENSG00000014641 HGNC:6970 MICAL1 gene MICAL1 Expert list;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant epilepsy with auditory features (ADEAF) Seizure;HP:0001250 29394500;21638339 False 2 0;100;0 1.108 True ENSG00000135596 ENSG00000135596 HGNC:20619 NAGA gene NAGA Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Schindler disease, type I and type II 609241 Seizure;HP:0001250 8782044;31468281;15619430;31890708;11313741 False 2 33;33;33 1.108 True ENSG00000198951 ENSG00000198951 HGNC:7631 NDUFA2 gene NDUFA2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235;Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000 Seizure;HP:0001250 28857146;32154054;18513682 False 2 0;100;0 1.108 True ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFA8 gene NDUFA8 Expert list;Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 37 - 619272;Epilepsy;Microcephaly;Developmental Delay Seizure;HP:0001250 32385911;33153867 False 2 0;100;0 1.108 True ENSG00000119421 ENSG00000119421 HGNC:7692 NDUFAF3 gene NDUFAF3 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, MIM#252010 Seizure;HP:0001250 False 2 50;50;0 1.108 True ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF4 gene NDUFAF4 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, MIM#252010 Seizure;HP:0001250 28853723;19463981 False 2 50;50;0 1.108 True ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFS1 gene NDUFS1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, MIM#252010 Seizure;HP:0001250 False 2 50;50;0 1.108 True ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, MIM#252010 Seizure;HP:0001250 23266820;22036843;20819849 False 2 50;50;0 1.108 True ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS6 gene NDUFS6 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, MIM#252010 Seizure;HP:0001250 15372108;19259137;27290639 False 2 50;50;0 1.108 True ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFS7 gene NDUFS7 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, MIM#256000 Seizure;HP:0001250 17604671;17275378;15269216 False 2 50;50;0 1.108 True ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFV2 gene NDUFV2 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229 Seizure;HP:0001250 33811136;34405929;12754703;26008862;30770271;19167255 False 2 0;100;0 1.108 True ENSG00000178127 ENSG00000178127 HGNC:7717 NECAP1 gene NECAP1 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 21, MIM#615833 Seizure;HP:0001250 24399846;30626896;30525121 False 2 0;100;0 1.108 True ENSG00000089818 ENSG00000089818 HGNC:24539 NF1 gene NF1 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis, type 1 (MIM#162200) Seizure;HP:0001250 34944956 False 2 0;0;100 1.108 True ENSG00000196712 ENSG00000196712 HGNC:7765 NSF gene NSF Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 96, MIM# 619340;Seizures;EEG with burst suppression;Global developmental delay;Intellectual disability Seizure;HP:0001250 31675180 False 2 0;100;0 1.108 True ENSG00000073969 ENSG00000073969 HGNC:8016 NUBPL gene NUBPL Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, MIM#252010 Seizure;HP:0001250 23553477;20818383 False 2 50;50;0 1.108 True ENSG00000151413 ENSG00000151413 HGNC:20278 OFD1 gene OFD1 Expert Review Amber;Literature Genetic Epilepsy 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) Orofaciodigital syndrome I (MIM#311200) Seizure;HP:0001250 23033313;31373179 False 2 0;100;0 1.108 True ENSG00000046651 ENSG00000046651 HGNC:2567 OTUD5 gene OTUD5 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056 Seizure;HP:0001250 PMID:33748114 False 2 0;100;0 1.108 True ENSG00000068308 ENSG00000068308 HGNC:25402 OTUD7A gene OTUD7A Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790 Seizure;HP:0001250 31997314;29395075;29395074;33381903 False 2 0;67;33 1.108 True ENSG00000169918 ENSG00000169918 HGNC:20718 OTX2 gene OTX2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, syndromic 5 610125 Seizure;HP:0001250 19965921;15846561 False 2 0;100;0 1.108 True ENSG00000165588 ENSG00000165588 HGNC:8522 PAK2 gene PAK2 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Knobloch 2 syndrome MIM#618458 Seizure;HP:0001250 33693784;38894571;38712026 False 2 0;50;50 1.108 True ENSG00000180370 ENSG00000180370 HGNC:8591 PAK3 gene PAK3 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 30 (MIM#300558) Seizure;HP:0001250 17853471;12884430;29246092;25666757 False 2 0;100;0 1.108 True ENSG00000077264 ENSG00000077264 HGNC:8592 PAX6 gene PAX6 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aniridia (MIM#106210) Seizure;HP:0001250 34200146;17417613;12731001 False 2 0;100;0 1.108 True ENSG00000007372 ENSG00000007372 HGNC:8620 PDSS2 gene PDSS2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders Unknown Coenzyme Q10 deficiency, primary, 3, MIM#614652 Seizure;HP:0001250 17186472;29032433 False 2 50;50;0 1.108 True ENSG00000164494 ENSG00000164494 HGNC:23041 PGAP2 gene PGAP2 Expert Review;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628 Seizure;HP:0001250 23561846;23561847;31805394;29119105;27871432 False 2 0;100;0 1.108 True ENSG00000148985 ENSG00000148985 HGNC:17893 PGM3 gene PGM3 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Idiopathic focal epilepsy;Immunodeficiency 23, MIM# 615816" Seizure;HP:0001250 33193641;24589341 False 2 0;100;0 1.108 True ENSG00000013375 ENSG00000013375 HGNC:8907 PIK3C2B gene PIK3C2B Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted familial partial epilepsy - MONDO#0017704 Seizure;HP:0001250 PMID: 35786744 False 2 0;100;0 1.108 True ENSG00000133056 ENSG00000133056 HGNC:8972 POLG2 gene POLG2 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MIM#610131 Seizure;HP:0001250 PMID: 21555342 False 2 0;100;0 1.108 True ENSG00000256525 ENSG00000256525 HGNC:9180 POLR1A gene POLR1A Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acrofacial dysostosis, Cincinnati type MIM#616462 Seizure;HP:0001250 PMID: 37075751 False 2 0;100;0 1.108 True ENSG00000068654 ENSG00000068654 HGNC:17264 POMGNT2 gene POMGNT2 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 MIM#614830 Seizure;HP:0001250 PMID: 36808730 False 2 0;50;50 1.108 True ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 MIM#615249 Seizure;HP:0001250 PMID: 24925318 False 2 0;50;50 1.108 True ENSG00000185900 ENSG00000185900 HGNC:26267 POMT2 gene POMT2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150 Seizure;HP:0001250 False 2 0;100;0 1.108 True ENSG00000009830 ENSG00000009830 HGNC:19743 POU3F3 gene POU3F3 Expert Review Amber;Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Snijders Blok-Fisher syndrome MIM#618604" Seizure;HP:0001250 31303265;33645921 False 2 50;50;0 1.108 True ENSG00000198914 ENSG00000198914 HGNC:9216 PPP1CB gene PPP1CB Expert Review Amber;Expert Review Green;Literature;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Noonan syndrome-like disorder with loose anagen hair 2 MIM#617506" Seizure;HP:0001250 33333793;30236064 False 2 33;67;0 1.108 True ENSG00000213639 ENSG00000213639 HGNC:9282 PPP2R2B gene PPP2R2B Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, PPP2R2B-related Seizure;HP:0001250 25356899;39565297 False 2 0;100;0 1.108 True ENSG00000156475 ENSG00000156475 HGNC:9305 PRICKLE2 gene PRICKLE2 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related Seizure;HP:0001250 34092786;21276947;26942291;26942292 False 2 33;67;0 1.108 True ENSG00000163637 ENSG00000163637 HGNC:20340 PSAT1 gene PSAT1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Phosphoserine aminotransferase deficiency, MIM#610992 Seizure;HP:0001250 17436247;26610677;26960553 False 2 50;50;0 1.108 True ENSG00000135069 ENSG00000135069 HGNC:19129 PSPH gene PSPH Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Phosphoserine phosphatase deficiency, MIM#614023 Seizure;HP:0001250 25080166;26589312;14673469 False 2 50;50;0 1.108 True ENSG00000146733 ENSG00000146733 HGNC:9577 PTF1A gene PTF1A Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pancreatic and cerebellar agenesis, MIM#609069 Seizure;HP:0001250 21749365;15543146;19650412 False 2 0;100;0 1.108 True ENSG00000168267 ENSG00000168267 HGNC:23734 RAB3GAP1 gene RAB3GAP1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 1, MIM#600118 Seizure;HP:0001250 20512159 False 2 0;100;0 1.108 True ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Martsolf syndrome, MIM#212720;Warburg micro syndrome 2, MIM#614225 Seizure;HP:0001250 False 2 0;100;0 1.108 True ENSG00000118873 ENSG00000118873 HGNC:17168 RALGAPB gene RALGAPB Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorders, autism Seizure;HP:0001250 PMID: 32853829 False 2 0;100;0 1.108 True ENSG00000170471 ENSG00000170471 HGNC:29221 RBFOX3 gene RBFOX3 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder (MONDO:0700092), RBFOX3-related Seizure;HP:0001250 35951651;36117209;24039908 False 2 0;100;0 1.108 True ENSG00000167281 ENSG00000167281 HGNC:27097 RBL2 gene RBL2 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brunet-Wagner neurodevelopmental syndrome, MIM# 619690 Seizure;HP:0001250 PMID: 33980986;32105419;9806916 False 2 0;67;33 1.108 True ENSG00000103479 ENSG00000103479 HGNC:9894 RNF2 gene RNF2 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lou-Schoch-Yamamoto syndrome , MIM#619460;epilepsy;intellectual disability;intrauterine growth retardation Seizure;HP:0001250 33864376 False 2 0;100;0 1.108 True ENSG00000121481 ENSG00000121481 HGNC:10061 RPIA gene RPIA Expert Review;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ribose 5-phosphate isomerase deficiency, MIM 608611 Seizure;HP:0001250 14988808;10589548;20499043;28801340;30088433 False 2 50;50;0 1.108 True ENSG00000153574 ENSG00000153574 HGNC:10297 RUSC2 gene RUSC2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Mental retardation, autosomal recessive 61, MIM# 617773" Seizure;HP:0001250 27612186 False 2 0;100;0 1.108 True ENSG00000198853 ENSG00000198853 HGNC:23625 RYR3 gene RYR3 ClinGen;Expert list;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted undetermined early-onset epileptic encephalopathy (MONDO:0018614) Seizure;HP:0001250 25262651 False 2 0;100;0 1.108 True ENSG00000198838 ENSG00000198838 HGNC:10485 SACS gene SACS Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type MIM#270550 Seizure;HP:0001250 PMID: 27871429;35386405 False 2 0;100;0 1.108 True ENSG00000151835 ENSG00000151835 HGNC:10519 SCO1 gene SCO1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048 Seizure;HP:0001250 11013136;19295170;31352446;23878101 False 2 0;100;0 1.108 True ENSG00000133028 ENSG00000133028 HGNC:10603 SDHA gene SDHA Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, MIM#256000 Seizure;HP:0001250 False 2 0;100;0 1.108 True ENSG00000073578 ENSG00000073578 HGNC:10680 SIX3 gene SIX3 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 2, MIM#157170 Seizure;HP:0001250 False 2 0;100;0 1.108 True ENSG00000138083 ENSG00000138083 HGNC:10889 SLC31A1 gene SLC31A1 Expert list;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration and seizures due to copper transport defect, MIM# 620306 Seizure;HP:0001250 PMID: 35913762;36562171 False 2 0;100;0 1.108 True ENSG00000136868 ENSG00000136868 HGNC:11016 SLC35A1 gene SLC35A1 Expert Review;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIf, MIM# 603585 Seizure;HP:0001250 28856833;23873973;11157507 False 2 0;100;0 1.108 True ENSG00000164414 ENSG00000164414 HGNC:11021 SLC35A3 gene SLC35A3 Expert Review;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, mental retardation, and seizures;OMIM #615553 Seizure;HP:0001250 28328131;24031089;28777481 False 2 0;100;0 1.108 True ENSG00000117620 ENSG00000117620 HGNC:11023 SLC45A1 gene SLC45A1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with neuropsychiatric features, MIM# 617532 Seizure;HP:0001250 28434495 False 2 0;100;0 1.108 True ENSG00000162426 ENSG00000162426 HGNC:17939 SNIP1 gene SNIP1 Expert Review;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 Seizure;HP:0001250 22279524;34570759 False 2 0;50;50 1.108 True ENSG00000163877 ENSG00000163877 HGNC:30587 SPEN gene SPEN Expert Review Amber;Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Radio-Tartaglia syndrome MIM#619312 Seizure;HP:0001250 PMID: 33596411 False 2 40;60;0 1.108 True ENSG00000065526 ENSG00000065526 HGNC:17575 SRD5A3 gene SRD5A3 Expert list;Expert Review Amber Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type Iq, MIM# 612379" Seizure;HP:0001250 26219881 False 2 0;100;0 1.108 True ENSG00000128039 ENSG00000128039 HGNC:25812 ST3GAL3 gene ST3GAL3 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 15 , MIM#615006 Seizure;HP:0001250 23252400;31584066 False 2 0;100;0 1.108 True ENSG00000126091 ENSG00000126091 HGNC:10866 SUCLG1 gene SUCLG1 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), MIM#245400 Seizure;HP:0001250 26475597;27484306 False 2 50;50;0 1.108 True ENSG00000163541 ENSG00000163541 HGNC:11449 SV2A gene SV2A Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, SV2A-related;Developmental and epileptic encephalopathy 113, MIM# 620772 Seizure;HP:0001250 PMID: 37985816 False 2 0;100;0 1.108 True ENSG00000159164 ENSG00000159164 HGNC:20566 SYNCRIP gene SYNCRIP Expert Review Amber;Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, MONDO:0700092, SYNCRIP-related;Global developmental delay;Intellectual disability;Autism;Myoclonic atonic seizures;Abnormality of nervous system morphology Seizure;HP:0001250 34157790;30504930;27479843;23020937 False 2 33;67;0 1.108 True ENSG00000135316 ENSG00000135316 HGNC:16918 TBC1D20 gene TBC1D20 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 4, MIM#615663 Seizure;HP:0001250 24239381 False 2 0;100;0 1.108 True ENSG00000125875 ENSG00000125875 HGNC:16133 TCEAL1 gene TCEAL1 Expert Review Amber;Literature Genetic Epilepsy 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) Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094 Seizure;HP:0001250 PMID: 36368327 False 2 0;100;0 1.108 True ENSG00000172465 ENSG00000172465 HGNC:11616 THG1L gene THG1L Expert list;Expert Review Amber;Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 28 - 618800;Epilepsy;Intellectual disability Seizure;HP:0001250 33682303 False 2 50;50;0 1.108 True ENSG00000113272 ENSG00000113272 HGNC:26053 THOC2 gene THOC2 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 12 MIM#300957 Seizure;HP:0001250 PMID: 26166480;29851191 False 2 0;100;0 1.108 True ENSG00000125676 ENSG00000125676 HGNC:19073 TLK2 gene TLK2 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Intellectual developmental disorder, autosomal dominant 57 MIM#618050" Seizure;HP:0001250 37662408;31558842 False 2 0;100;0 1.108 True ENSG00000146872 ENSG00000146872 HGNC:11842 TMEM106B gene TMEM106B Expert Review Amber;Expert Review Green;Literature;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, hypomyelinating, 16 (MIM #617964) Seizure;HP:0001250 29186371;29444210;32595021 False 2 50;50;0 1.108 True 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 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052 Seizure;HP:0001250 18953340;21147908 False 2 0;100;0 1.108 True ENSG00000175606 ENSG00000175606 HGNC:26050 TNK2 gene TNK2 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal severe infantile onset epilepsy Seizure;HP:0001250 27977884;23686771 False 2 0;100;0 1.108 True ENSG00000061938 ENSG00000061938 HGNC:19297 TRAF7 gene TRAF7 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiac, facial, and digital anomalies with developmental delay, MIM#618164 Seizure;HP:0001250 29961569;27479843;28135719;25363760;25961944 False 2 0;100;0 1.108 True ENSG00000131653 ENSG00000131653 HGNC:20456 TRIP12 gene TRIP12 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Intellectual developmental disorder, autosomal dominant 49 MIM#617752" Seizure;HP:0001250 PMID: 36275919;32424948 False 2 0;100;0 1.108 True ENSG00000153827 ENSG00000153827 HGNC:12306 TRIP13 gene TRIP13 Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 3, MIM# 617598 Seizure;HP:0001250 28553959 False 2 50;50;0 1.108 True ENSG00000071539 ENSG00000071539 HGNC:12307 TSEN15 gene TSEN15 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 2F MIM#617026 Seizure;HP:0001250 PMID: 27392077 False 2 0;100;0 1.108 True ENSG00000198860 ENSG00000198860 HGNC:16791 UBTF gene UBTF Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodegeneration, childhood-onset, with brain atrophy MIM#617672 Seizure;HP:0001250 PMID: 30517966 False 2 0;100;0 1.108 True ENSG00000108312 ENSG00000108312 HGNC:12511 VLDLR gene VLDLR Australian Genomics Health Alliance Epilepsy Flagship;Expert Review Amber;Victorian Clinical Genetics Services Genetic Epilepsy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM#224050 Seizure;HP:0001250 16174313;18326629 False 2 0;100;0 1.108 True ENSG00000147852 ENSG00000147852 HGNC:12698 XPR1 gene XPR1 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal ganglia calcification, idiopathic, 6 MIM#616413 Seizure;HP:0001250 PMID: 33433330 False 2 0;100;0 1.108 True ENSG00000143324 ENSG00000143324 HGNC:12827 ZMIZ1 gene ZMIZ1 Expert Review Amber;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies MIM#618659 Seizure;HP:0001250 PMID: 30639322 False 2 0;50;50 1.108 True ENSG00000108175 ENSG00000108175 HGNC:16493 FAME2 str STARD7 Expert Review Green;Literature Genetic Epilepsy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, familial adult myoclonic, 2 MIM#607876 Seizure;HP:0001250 11701600;24114805;31664034 False 3 100;0;0 1.108 True ENSG00000084090 ENSG00000084090 HGNC:18063 2 96862805 96862859 96197067 96197121 ATTTC 0 661