Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AARS2 gene AARS2 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