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 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic False 1 0;67;33 15.312 False ENSG00000124608 ENSG00000124608 HGNC:21022 ABCG2 gene ABCG2 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Primary idiopathic gout (Disorders of purine metabolism);[Junior blood group system] 614490;[Uric acid concentration, serum, QTL1] 138900 27604308 False 1 0;0;100 15.312 False ENSG00000118777 ENSG00000118777 HGNC:74 ACAT2 gene ACAT2 Expert Review Red;Literature Epilepsy - early onset or syndromic Unknown ?ACAT2 deficiency, OMIM:614055;Increased serum lactate and pyruvate;High levels of ketones;Low levels of cytosolic acetoacetyl-CoA thiolase;Hypotonia;Severe developmental delay 33340416;20597;6150136 False 1 0;100;0 15.312 False ENSG00000120437 ENSG00000120437 HGNC:94 ADGRV1 gene ADGRV1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;Expert Review Red Epilepsy - early onset or syndromic Febrile seizures, familial, 4, 604352;Usher syndrome, type 2C, 605472;Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 False 1 0;100;0 15.312 False ENSG00000164199 ENSG00000164199 HGNC:17416 ADRA2B gene ADRA2B Expert Review Red;NHS GMS;Wessex and West Midlands GLH Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical myoclonus and epilepsy 11701600;18231815;24114805;31664034 False 1 0;67;33 15.312 False ENSG00000222040 ENSG00000274286 HGNC:282 AGMO gene AGMO Expert Review Red;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal microcephaly;intellectual disability;epilepsy;generalized tonic-clonic seizures 31555905;27000257 False 1 0;100;0 15.312 False ENSG00000187546 ENSG00000187546 HGNC:33784 AKT1 gene AKT1 Expert Review Red;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Proteus syndrome, somatic 176920 23992099;21793738 False 1 50;25;25 15.312 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000142208 ENSG00000142208 HGNC:391 ALDH1B1 gene ALDH1B1 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype;Succinic semialdehyde dehydrogenase deficiency False 1 0;100;0 15.312 False ENSG00000137124 ENSG00000137124 HGNC:407 ALG10 gene ALG10 Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Progressive myoclonus epilepsy;CDG 33798445 False 1 0;0;100 15.312 False ENSG00000139133 ENSG00000139133 HGNC:23162 ALG12 gene ALG12 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ig 607143 False 1 0;33;67 15.312 False ENSG00000182858 ENSG00000182858 HGNC:19358 ALG2 gene ALG2 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation type Ii, 607906;Myasthenic syndrome congenital 14 with tubular aggregates, 616228 12684507 False 1 0;33;67 15.312 False ENSG00000119523 ENSG00000119523 HGNC:23159 AMPD1 gene AMPD1 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Myoadenylate deaminase deficiency (Disorders of purine metabolism);Myopathy due to myoadenylate deaminase deficiency 615511 27604308 False 1 50;0;50 15.312 False ENSG00000116748 ENSG00000116748 HGNC:468 AOX1 gene AOX1 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Xanthinuria type II (Disorders of purine metabolism) 27604308 False 1 0;0;100 15.312 False ENSG00000138356 ENSG00000138356 HGNC:553 ATAD3B gene ATAD3B Expert Review Red Epilepsy - early onset or syndromic Unknown Influence on AIDS progression;No OMIM phenotype False 1 0;100;0 15.312 False ENSG00000160072 ENSG00000160072 HGNC:24007 ATP5C1 gene ATP5C1 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 15.312 False ENSG00000165629 ENSG00000165629 HGNC:833 ATP5G1 gene ATP5G1 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 15.312 False ENSG00000159199 ENSG00000159199 HGNC:841 ATP5G2 gene ATP5G2 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 15.312 False ENSG00000135390 ENSG00000135390 HGNC:842 ATP5I gene ATP5I Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 15.312 False ENSG00000169020 ENSG00000169020 HGNC:846 ATP5J gene ATP5J Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 15.312 False ENSG00000154723 ENSG00000154723 HGNC:847 ATXN7 gene ATXN7 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Other Spinocerebellar ataxia 7, OMIM:164500;Mitochondrial respiratory chain disorders (caused by nuclear variants only) 27604308 False 1 0;0;100 15.312 False ENSG00000163635 ENSG00000163635 HGNC:10560 BCAT1 gene BCAT1 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) 27604308 False 1 0;0;100 15.312 False ENSG00000060982 ENSG00000060982 HGNC:976 BCORL1 gene BCORL1 Wessex and West Midlands GLH;NHS GMS;Literature Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability and seizures;Shukla-Vernon syndrome, 301029 30941876;24123876 False 1 0;50;50 15.312 False ENSG00000085185 ENSG00000085185 HGNC:25657 BET1 gene BET1 Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epilepsy, MONDO:0005027 34779586 False 1 50;0;50 15.312 False ENSG00000105829 ENSG00000105829 HGNC:14562 BOLA1 gene BOLA1 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 15.312 False ENSG00000178096 ENSG00000178096 HGNC:24263 BOLA2 gene BOLA2 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 15.312 False ENSG00000183336 ENSG00000183336 HGNC:29488 C1GALT1C1 gene C1GALT1C1 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Other - please specify in evaluation comments COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies);Tn polyagglutination syndrome, somatic;Tn polyagglutination syndrome, somatic 300622 27604308;19778426;27536663 False 1 0;0;0 15.312 False ENSG00000171155 ENSG00000171155 HGNC:24338 CACNB4 gene CACNB4 Expert Review Red;Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Expert Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Epilepsy, idiopathic generalized, susceptibility to, 9} OMIM:607682;{Epilepsy, juvenile myoclonic, susceptibility to, 6} OMIM:607682;Episodic ataxia, type 5 OMIM:613855;Intellectual disability 20561025;20378313;10762541;32176688;25529582 False 1 0;27;73 15.312 False ENSG00000182389 ENSG00000182389 HGNC:1404 CAD gene CAD Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Iz 616457 False 1 0;0;0 15.312 False ENSG00000084774 ENSG00000084774 HGNC:1424 CAMK2G gene CAMK2G Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early infantile epileptic encephalopathy 30109124;28388656 False 1 0;67;33 15.312 False ENSG00000148660 ENSG00000148660 HGNC:1463 CAMLG gene CAMLG Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIz, OMIM:620201 35262690 False 1 0;0;100 15.312 False ENSG00000164615 ENSG00000164615 HGNC:1471 CAMLG gene CAMLG Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIz, OMIM:620201 35262690 False 1 0;0;100 15.312 False ENSG00000164615 ENSG00000164615 HGNC:1471 CASR gene CASR Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen Epilepsy - early onset or syndromic Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899Hypercalciuric hypercalcemia{Calcium, serum level of} False 1 0;50;50 15.312 False ENSG00000036828 ENSG00000036828 HGNC:1514 CBL gene CBL Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Expert Review Epilepsy - early onset or syndromic 24463883 False 1 0;33;67 15.312 False ENSG00000110395 ENSG00000110395 HGNC:1541 CCDC186 gene CCDC186 Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy 33259146;28600779 False 1 0;0;100 15.312 False ENSG00000165813 ENSG00000165813 HGNC:24349 CCND2 gene CCND2 Expert Review Red;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 24705253 False 1 0;33;67 15.312 True ENSG00000118971 ENSG00000118971 HGNC:1583 CEP89 gene CEP89 Expert Review Red;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal isolated complex IV deficiency, intellectual disability and multisystemic problems PMID: 23575228 False 1 50;0;50 15.312 False ENSG00000121289 ENSG00000121289 HGNC:25907 CETP gene CETP London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted [High density lipoprotein cholesterol level QTL 10] 143470;Familial hyperalphalipoproteinaemia (Disorders of high density lipoprotein metabolism);Hyperalphalipoproteinemia 143470 27604308 False 1 0;0;100 15.312 False ENSG00000087237 ENSG00000087237 HGNC:1869 CHMP3 gene CHMP3 Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Complex spastic quadriplegia associated with developmental delay and seizures 35710109 False 1 0;0;0 15.312 False ENSG00000115561 ENSG00000115561 HGNC:29865 CHRM1 gene CHRM1 Expert Review Red;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental delay;intellectual disability, MONDO:0001071;autism 34212451;31981491;12483218 False 1 0;100;0 15.312 False ENSG00000168539 ENSG00000168539 HGNC:1950 CLCN2 gene CLCN2 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;NIHRBR-RD Consortium SPEED_v3.0_20170404;Literature;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Epilepsy, juvenile myoclonic, susceptibility to, 8}, OMIM:607628;{Epilepsy, juvenile absence, susceptibility to, 2}, OMIM:607628;{Epilepsy, idiopathic generalized, susceptibility to, 11}, OMIM:607628 23707145;19191339;20037607;19710712 False 1 0;67;33 15.312 False ENSG00000114859 ENSG00000114859 HGNC:2020 CLCN6 gene CLCN6 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal 29667327;26658788;25794116 False 1 0;50;50 15.312 False ENSG00000011021 ENSG00000011021 HGNC:2024 CLCN6 gene CLCN6 Expert Review Red;Other Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173 29667327;26658788;25794116;21107136;33217309;16950870 False 1 0;0;100 15.312 False ENSG00000011021 ENSG00000011021 HGNC:2024 CLN5 gene CLN5 Wessex and West Midlands GLH;NHS GMS;Expert;Expert Review Red Epilepsy - early onset or syndromic False 1 0;33;67 15.312 False ENSG00000102805 ENSG00000102805 HGNC:2076 CLPS gene CLPS London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Pancreatic colipase deficiency (Other disorders of lipid and lipoprotein metabolism) 27604308 False 1 0;0;100 15.312 False ENSG00000137392 ENSG00000137392 HGNC:2085 CNDP1 gene CNDP1 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Carnosinaemia (Other disorders of peptide metabolism) 27604308 False 1 0;0;100 15.312 False ENSG00000150656 ENSG00000150656 HGNC:20675 COA1 gene COA1 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 15.312 False ENSG00000106603 ENSG00000106603 HGNC:21868 COA5 gene COA5 Expert Review Red;London North GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 27604308;21457908 False 1 50;50;0 15.312 False ENSG00000183513 ENSG00000183513 HGNC:33848 COG2 gene COG2 Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type IIq, 617395 11980916;24784932 False 1 0;0;0 15.312 False ENSG00000135775 ENSG00000135775 HGNC:6546 COX5B gene COX5B Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 15.312 False ENSG00000135940 ENSG00000135940 HGNC:2269 COX6C gene COX6C Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 15.312 False ENSG00000164919 ENSG00000164919 HGNC:2285 COX7A1 gene COX7A1 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 15.312 False ENSG00000161281 ENSG00000161281 HGNC:2287 COX7A2 gene COX7A2 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 15.312 False ENSG00000112695 ENSG00000112695 HGNC:2288 COX7B2 gene COX7B2 Expert Review Red Epilepsy - early onset or syndromic Unknown ?{Nasopharyngeal carcinoma, susceptibility to}, 607107 False 1 0;100;0 15.312 False ENSG00000170516 ENSG00000170516 HGNC:24381 COX7C gene COX7C Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 15.312 False ENSG00000127184 ENSG00000127184 HGNC:2292 COX8A gene COX8A Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency 220110 PMID: 26685157 False 1 100;0;0 15.312 False ENSG00000176340 ENSG00000176340 HGNC:2294 CPA6 gene CPA6 Expert Review Red;Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, familial temporal lobe, 5 614417 AR, AD;Febrile seizures, familial, 11 614418 21922598;23105115 False 1 25;38;38 15.312 False ENSG00000165078 ENSG00000165078 HGNC:17245 CRH gene CRH Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Expert Epilepsy - early onset or syndromic False 1 0;17;83 15.312 False ENSG00000147571 ENSG00000147571 HGNC:2355 CSNK2A1 gene CSNK2A1 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Okur-Chung neurodevelopmental syndrome, OMIM:617062 30655572;27048600 False 1 0;67;33 15.312 False ENSG00000101266 ENSG00000101266 HGNC:2457 CYP7A1 gene CYP7A1 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Cholesterol 7-alpha-hydroxylase deficiency (Disorders of bile acid biosynthesis);Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 27604308 False 1 0;0;100 15.312 False ENSG00000167910 ENSG00000167910 HGNC:2651 DHFR2 gene DHFR2 Expert Review Red Epilepsy - early onset or syndromic Unknown 21876184 False 1 0;0;100 15.312 False ENSG00000178700 ENSG00000178700 HGNC:27309 DLST gene DLST London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype?Familial Alzheimer disease 27604308;12805207;1943690 False 1 0;50;50 15.312 False ENSG00000119689 ENSG00000119689 HGNC:2911 DMBX1 gene DMBX1 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal global developmental delay, intellectual disability, and epilepsy 25558065 False 1 0;67;33 15.312 False ENSG00000197587 ENSG00000197587 HGNC:19026 DMGDH gene DMGDH London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Dimethylglycine dehydrogenase deficiency 605850;Dimethylglycinuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) 27604308;18937046 - functional study expressing the variant form in E.coli showed a decrease in activity;11231903 - case study False 1 0;0;100 15.312 False ENSG00000132837 ENSG00000132837 HGNC:24475 DPEP1 gene DPEP1 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Cysteinylglycinase deficiency (Disorders of the gamma-glutamyl cycle) 27604308 False 1 0;0;100 15.312 False ENSG00000015413 ENSG00000015413 HGNC:3002 DTD1 gene DTD1 Expert Review Red Epilepsy - early onset or syndromic Unknown False 1 0;0;0 15.312 False ENSG00000125821 ENSG00000125821 HGNC:16219 ECSIT gene ECSIT Expert Review Red;Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 15.312 False ENSG00000130159 ENSG00000130159 HGNC:29548 EGF gene EGF London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hypomagnesaemia type 4, renal (Disorder of magnesium metabolism) 27604308 False 1 0;0;100 15.312 False ENSG00000138798 ENSG00000138798 HGNC:3229 EIF2A gene EIF2A Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Seizures;ASD 31130284 False 1 0;0;100 15.312 False ENSG00000144895 ENSG00000144895 HGNC:3254 ERCC6L2 gene ERCC6L2 Expert Review Red Epilepsy - early onset or syndromic Unknown False 1 0;0;0 15.312 False ENSG00000182150 ENSG00000182150 HGNC:26922 FAR1 gene FAR1 Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 25439727;30561787;33239752 False 1 0;0;100 15.312 False ENSG00000197601 ENSG00000197601 HGNC:26222 FBP2 gene FBP2 Expert Review Red Epilepsy - early onset or syndromic Unknown isolated lactic acidosis False 1 0;0;0 15.312 False ENSG00000130957 ENSG00000130957 HGNC:3607 FIG4 gene FIG4 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic False 1 0;67;33 15.312 False ENSG00000112367 ENSG00000112367 HGNC:16873 FOLR2 gene FOLR2 Expert Review Red Epilepsy - early onset or syndromic Unknown 14711912;19587340 False 1 0;0;100 15.312 False ENSG00000165457 ENSG00000165457 HGNC:3793 FOLR3 gene FOLR3 Expert Review Red Epilepsy - early onset or syndromic Unknown 8110752 False 1 0;0;100 15.312 False ENSG00000110203 ENSG00000110203 HGNC:3795 FTL gene FTL Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Radboud University Medical Center, Nijmegen Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal L-ferritin deficiency, dominant and recessive 615604 23940258 False 1 0;50;50 15.312 False ENSG00000087086 ENSG00000087086 HGNC:3999 FUT2 gene FUT2 Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 39350204 False 1 0;0;0 15.312 False ENSG00000176920 ENSG00000176920 HGNC:4013 FXYD2 gene FXYD2 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypomagnesemia 2, renal 154020;Hypomagnesaemia type 2, renal (Disorder of magnesium metabolism) 27604308 False 1 0;0;100 15.312 False ENSG00000137731 ENSG00000137731 HGNC:4026 GAL gene GAL Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Epilepsy, familial temporal lobe, 8 616461 25691535 False 1 0;67;33 15.312 False ENSG00000069482 ENSG00000069482 HGNC:4114 GALNT12 gene GALNT12 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted (GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies));GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies);{Colorectal cancer, susceptibility to, 1} 608812 27604308 False 1 0;0;100 15.312 False ENSG00000119514 ENSG00000119514 HGNC:19877 GATAD2B gene GATAD2B Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Expert Review Epilepsy - early onset or syndromic Willemsen et al (2013) J Med Genet 50:507 514 False 1 0;17;83 15.312 False ENSG00000143614 ENSG00000143614 HGNC:30778 GATB gene GATB Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 41, OMIM:618838 False 1 0;0;100 15.312 False ENSG00000059691 ENSG00000059691 HGNC:8849 GATM gene GATM Wessex and West Midlands GLH;NHS GMS;Expert;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 3, OMIM:612718 26490222;11555793 False 1 0;14;86 15.312 False ENSG00000171766 ENSG00000171766 HGNC:4175 GGT1 gene GGT1 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Gamma-glutamyl transpeptidase deficiency;Glutathionuria (Disorders of the gamma-glutamyl cycle) 27604308;24816252 False 1 0;0;100 15.312 False ENSG00000100031 ENSG00000100031 HGNC:4250 GLRB gene GLRB Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Expert Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 2, 614619 21391991 False 1 0;17;83 15.312 False ENSG00000109738 ENSG00000109738 HGNC:4329 GNB2 gene GNB2 Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sturge-Weber syndrome, somatic, mosaic, OMIM:185300 34124757 False 1 0;0;100 15.312 False ENSG00000172354 ENSG00000172354 HGNC:4398 HAL gene HAL London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Histidinaemia (Disorders of histidine, tryptophan or lysine metabolism) 27604308 False 1 0;0;100 15.312 False ENSG00000084110 ENSG00000084110 HGNC:4806 HYKK gene HYKK London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism) 27604308 False 1 0;0;100 15.312 False ENSG00000188266 ENSG00000188266 HGNC:34403 IDH2 gene IDH2 Expert Review Red;Wessex and West Midlands GLH;NHS GMS;Expert Review Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown D-2-hydroxyglutaric aciduria 2, 613657 20847235;24049096 False 1 25;75;0 15.312 True ENSG00000182054 ENSG00000182054 HGNC:5383 IDH3B gene IDH3B Expert Review Red Epilepsy - early onset or syndromic Unknown False 1 0;100;0 15.312 False ENSG00000101365 ENSG00000101365 HGNC:5385 INO80 gene INO80 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability, epilepsy and primary microcephaly 25558065 False 1 0;33;67 15.312 False ENSG00000128908 ENSG00000128908 HGNC:26956 KCNH8 gene KCNH8 Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Familial Progressive Myoclonus Epilepsy 39156922 False 1 0;0;100 15.312 False ENSG00000183960 ENSG00000183960 HGNC:18864 KCTD7 gene KCTD7 Other Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726;progressive myoclonic epilepsy type 3 MONDO:0012721 False 1 0;0;100 15.312 False ENSG00000243335 ENSG00000243335 HGNC:21957 KHK gene KHK London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Essential fructosuria (Disorders of fructose metabolism) 27604308 False 1 0;0;100 15.312 False ENSG00000138030 ENSG00000138030 HGNC:6315 KMT5B gene KMT5B Wessex and West Midlands GLH;NHS GMS;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 51, 617788 29276005;28191889 False 1 0;33;67 15.312 False ENSG00000110066 ENSG00000110066 HGNC:24283 LACTB gene LACTB Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 15.312 False ENSG00000103642 ENSG00000103642 HGNC:16468 LIPI gene LIPI London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Hypertriglyceridemia, susceptibility to}, 145750;Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias) 27604308 False 1 0;0;100 15.312 False ENSG00000188992 ENSG00000188992 HGNC:18821 LMNB2 gene LMNB2 NHS GMS;Expert Review Red;Wessex and West Midlands GLH Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Epilepsy, progressive myoclonic, 9, OMIM:616540 16826530;25954030;33033404 False 1 0;33;67 15.312 False ENSG00000176619 ENSG00000176619 HGNC:6638 MAGI2 gene MAGI2 Expert Review Red;Wessex and West Midlands GLH;NHS GMS;UKGTN Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 15 617609;Infantile Spasms 18565486;27932480;21694734;31056551 False 1 55;9;36 15.312 False ENSG00000187391 ENSG00000187391 HGNC:18957 MAPK10 gene MAPK10 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Expert Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic Encephalopathy;EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE 23329067 False 1 57;14;29 15.312 False ENSG00000109339 ENSG00000109339 HGNC:6872 MATN4 gene MATN4 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Global developmental delay, holoprosencephaly, microcephaly, lumbosacral myelomeningocele, epilepsy, proptosis, and diabetes insipidus 25558065 False 1 0;33;67 15.312 False ENSG00000124159 ENSG00000124159 HGNC:6910 MCM3AP gene MCM3AP Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 618124 32202298 False 1 0;0;100 15.312 False ENSG00000160294 ENSG00000160294 HGNC:6946 MRPL12 gene MRPL12 Expert list;Expert Review Red Epilepsy - early onset or syndromic Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis);No OMIM phenotype False 1 33;0;67 15.312 False ENSG00000262814 ENSG00000262814 HGNC:10378 MRPL40 gene MRPL40 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;50;50 15.312 False ENSG00000185608 ENSG00000185608 HGNC:14491 MRPS23 gene MRPS23 Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal hepatic disease and combined respiratory chain complex deficiencies PMID: 26741492 False 1 50;0;50 15.312 False ENSG00000181610 ENSG00000181610 HGNC:14509 MT-CO3 gene MT-CO3 Expert Review Red;Literature Epilepsy - early onset or syndromic MITOCHONDRIAL seizures 8739943;12915481 False 1 0;0;0 15.312 False ENSG00000198938 ENSG00000198938 HGNC:7422 MTHFD1 gene MTHFD1 Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal {Abruptio placentae, susceptibility to};{Spina bifida, folate-sensitive, susceptibility to} 601634 AR False 1 0;0;100 15.312 False ENSG00000100714 ENSG00000100714 HGNC:7432 MT-TL1 gene MT-TL1 Wessex and West Midlands GLH;NHS GMS;UKGTN;Expert Review Red Epilepsy - early onset or syndromic MITOCHONDRIAL False 1 0;17;83 15.312 False ENSG00000209082 ENSG00000209082 HGNC:7490 MYO1H gene MYO1H Literature;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482 28779001 False 1 0;0;100 15.312 False ENSG00000174527 ENSG00000174527 HGNC:13879 NAT8L gene NAT8L Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?N-acetylaspartate deficiency 614063 19807691 False 1 0;0;100 15.312 False ENSG00000185818 ENSG00000185818 HGNC:26742 NDUFA11 gene NDUFA11 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic Mitochondrial complex I deficiency 252010 18306244 False 1 0;100;0 15.312 False ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA3 gene NDUFA3 Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Leigh syndrome 39661167 False 1 0;100;0 15.312 False ENSG00000170906 ENSG00000170906 HGNC:7686 NDUFA7 gene NDUFA7 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 15.312 False ENSG00000267855 ENSG00000267855 HGNC:7691 NDUFAB1 gene NDUFAB1 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 15.312 False ENSG00000004779 ENSG00000004779 HGNC:7694 NDUFB1 gene NDUFB1 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 15.312 False ENSG00000183648 ENSG00000183648 HGNC:7695 NDUFB2 gene NDUFB2 Expert Review Red Epilepsy - early onset or syndromic Unknown Isolated complex I deficiency False 1 0;100;0 15.312 False ENSG00000090266 ENSG00000090266 HGNC:7697 NDUFB4 gene NDUFB4 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 15.312 False ENSG00000065518 ENSG00000065518 HGNC:7699 NDUFB5 gene NDUFB5 Expert Review Red Epilepsy - early onset or syndromic Unknown Isolated complex I deficiency False 1 0;100;0 15.312 False ENSG00000136521 ENSG00000136521 HGNC:7700 NDUFB6 gene NDUFB6 Expert Review Red Epilepsy - early onset or syndromic Unknown Isolated complex I deficiency False 1 0;100;0 15.312 False ENSG00000165264 ENSG00000165264 HGNC:7701 NDUFC1 gene NDUFC1 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 15.312 False ENSG00000109390 ENSG00000109390 HGNC:7705 NDUFS5 gene NDUFS5 Expert Review Red Epilepsy - early onset or syndromic Unknown Mitochondrial Diseases;No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 15.312 False ENSG00000168653 ENSG00000168653 HGNC:7712 NDUFV3 gene NDUFV3 Expert Review Red Epilepsy - early onset or syndromic Unknown Mitochondrial Diseases;No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 15.312 False ENSG00000160194 ENSG00000160194 HGNC:7719 NID1 gene NID1 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, focal epilepsy and hemiparesis 25558065 False 1 0;33;67 15.312 False ENSG00000116962 ENSG00000116962 HGNC:7821 NRAS gene NRAS Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic False 1 0;67;33 15.312 False ENSG00000213281 ENSG00000213281 HGNC:7989 NT5C gene NT5C London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism) 27604308 False 1 0;0;100 15.312 False ENSG00000125458 ENSG00000125458 HGNC:17144 NUP62 gene NUP62 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Infantile striatal necrosis (Other metabolic disorders);Striatonigral degeneration, infantile, 271930 27604308 False 1 0;0;100 15.312 False ENSG00000213024 ENSG00000213024 HGNC:8066 OSTC gene OSTC Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Oligosaccharyltransferase complex-congenital disorders of glycosylation 32267060 False 1 0;0;100 15.312 False ENSG00000198856 ENSG00000198856 HGNC:24448 OXA1L gene OXA1L Expert Review Red;Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 15.312 False ENSG00000155463 ENSG00000155463 HGNC:8526 PCDHB4 gene PCDHB4 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability, microcephaly and epilepsy 25558065 False 1 0;33;67 15.312 False ENSG00000081818 ENSG00000081818 HGNC:8689 PCLO gene PCLO Expert Review Red;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic False 1 0;25;75 15.312 False ENSG00000186472 ENSG00000186472 HGNC:13406 PCYT2 gene PCYT2 Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Global developmental delay;Developmental regression;Intellectual disability;Spastic paraparesis;Seizures;Spastic tetraparesis;Cerebral atrophy;Cerebellar atrophy 31637422;17325045;22764088 False 1 100;0;0 15.312 False ENSG00000185813 ENSG00000185813 HGNC:8756 PDK1 gene PDK1 Expert Review Red;London North GLH;NHS GMS Epilepsy - early onset or syndromic Unknown No OMIM phenotype;Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 50;0;50 15.312 False ENSG00000152256 ENSG00000152256 HGNC:8809 PDK2 gene PDK2 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype;Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 0;50;50 15.312 False ENSG00000005882 ENSG00000005882 HGNC:8810 PDK4 gene PDK4 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype;Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 0;50;50 15.312 False ENSG00000004799 ENSG00000004799 HGNC:8812 PDP2 gene PDP2 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 0;33;67 15.312 False ENSG00000172840 ENSG00000172840 HGNC:30263 PDPR gene PDPR Expert Review Red;London North GLH;NHS GMS Epilepsy - early onset or syndromic Unknown Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) 27604308;25558065 False 1 33;33;33 15.312 False ENSG00000090857 ENSG00000090857 HGNC:30264 PDXK gene PDXK London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Pryridoxal kinase deficiency (Disorders of pyridoxine metabolism) 27604308 False 1 0;0;100 15.312 False ENSG00000160209 ENSG00000160209 HGNC:8819 PEX11A gene PEX11A Expert Review Red;Literature Epilepsy - early onset or syndromic Unknown Zellweger syndrome;peroxisome proliferation;mild peroxisomal biogenesis defect 25177298;10716247;25608554;11839773 False 1 0;0;100 15.312 False ENSG00000166821 ENSG00000166821 HGNC:8852 PHKG1 gene PHKG1 Expert Review Red Epilepsy - early onset or syndromic Unknown False 1 0;0;100 15.312 False ENSG00000164776 ENSG00000164776 HGNC:8930 PHYKPL gene PHYKPL London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism);[?Phosphohydroxylysinuria] 615011 27604308 False 1 0;0;100 15.312 False ENSG00000175309 ENSG00000175309 HGNC:28249 PIK3CA gene PIK3CA Expert Review Red;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501 22729224;22228622;22729223 False 1 33;67;0 15.312 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000121879 ENSG00000121879 HGNC:8975 PNLIP gene PNLIP London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Pancreatic triacylglycerol lipase deficiency (Other disorders of lipid and lipoprotein metabolism);Pancreatic lipase deficiency 614338 27604308 False 1 0;0;100 15.312 False ENSG00000175535 ENSG00000175535 HGNC:9155 PNPLA4 gene PNPLA4 Expert Review Red Epilepsy - early onset or syndromic Unknown False 1 0;0;100 15.312 False ENSG00000006757 ENSG00000006757 HGNC:24887 POP1 gene POP1 Expert Review Red Epilepsy - early onset or syndromic Unknown False 1 0;100;0 15.312 False ENSG00000104356 ENSG00000104356 HGNC:30129 PPM1B gene PPM1B London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hypotonia-cystinuria syndrome (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308;15913950;11524703 False 1 0;0;100 15.312 False ENSG00000138032 ENSG00000138032 HGNC:9276 PPM1K gene PPM1K Expert Review Red Epilepsy - early onset or syndromic Unknown ?Maple syrup urine disease, mild variant 615135 False 1 0;0;100 15.312 False ENSG00000163644 ENSG00000163644 HGNC:25415 PRDM8 gene PRDM8 NHS GMS;Expert Review Red;Wessex and West Midlands GLH Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Epilepsy, progressive myoclonic, 10, 616640 22961547 False 1 0;50;50 15.312 False ENSG00000152784 ENSG00000152784 HGNC:13993 PREPL gene PREPL London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hypotonia-cystinuria syndrome 606407;Hypotonia-cystinuria syndrome (Disorders of amino acid transport) 27604308 False 1 0;0;100 15.312 False ENSG00000138078 ENSG00000138078 HGNC:30228 PRICKLE2 gene PRICKLE2 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Expert;Expert Review Red Epilepsy - early onset or syndromic False 1 0;33;67 15.312 False ENSG00000163637 ENSG00000163637 HGNC:20340 PSMB8 gene PSMB8 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 20534754 False 1 0;33;67 15.312 False ENSG00000204264 ENSG00000204264 HGNC:9545 PTCD1 gene PTCD1 Expert Review Red Epilepsy - early onset or syndromic Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 1 0;100;0 15.312 False ENSG00000106246 ENSG00000106246 HGNC:22198 PTCH1 gene PTCH1 NHS GMS;Expert Review Red;Wessex and West Midlands GLH Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 7, OMIM:610828 False 1 0;50;50 15.312 False ENSG00000185920 ENSG00000185920 HGNC:9585 PTPRZ1 gene PTPRZ1 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism);{H. pylori infection, susceptibility to} 600263 27604308 False 1 0;0;100 15.312 False ENSG00000106278 ENSG00000106278 HGNC:9685 RALGAPB gene RALGAPB Expert Review Red;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorders, autism 32853829 False 1 0;100;0 15.312 False ENSG00000170471 ENSG00000170471 HGNC:29221 RNU12 gene RNU12 Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Spinocerebellar ataxia, autosomal recessive 33, OMIM:620208 27863452;33577674 False 1 0;0;100 15.312 False ENSG00000270022 ENSG00000276027 HGNC:19380 RNU5A-1 gene RNU5A-1 Literature;Expert Review Red Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, MONDO:0700092 40379786 False 1 0;0;0 15.312 False ENSG00000199568 ENSG00000199568 HGNC:10211 ROBO3 gene ROBO3 Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 16525029;15105459 False 1 67;0;33 15.312 False ENSG00000154134 ENSG00000154134 HGNC:13433 RTEL1 gene RTEL1 Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Familial Progressive Myoclonus Epilepsy 39156922 False 1 0;0;100 15.312 False ENSG00000258366 ENSG00000258366 HGNC:15888 RUBCN gene RUBCN Wessex and West Midlands GLH;NHS GMS;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705 20826435 False 1 0;25;75 15.312 False ENSG00000145016 ENSG00000145016 HGNC:28991 SARDH gene SARDH London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal [Sarcosinemia] 268900;Sarcosinaemia (Disorders of serine, glycine or glycerate metabolism) 27604308 False 1 0;0;100 15.312 False ENSG00000123453 ENSG00000123453 HGNC:10536 SCARB1 gene SCARB1 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal [High density lipoprotein cholesterol level QTL6] 610762;Scavenger receptor class B type I deficiency (Inherited hypolipidaemias) 27604308 False 1 0;0;100 15.312 False ENSG00000073060 ENSG00000073060 HGNC:1664 SCN2B gene SCN2B Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Expert Epilepsy - early onset or syndromic False 1 0;17;83 15.312 False ENSG00000149575 ENSG00000149575 HGNC:10589 SCN9A gene SCN9A Expert Review Red;North West GLH;Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Expert Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, generalized, with febrile seizures plus, type 7 613863;Febrile seizures, familial, 3B 613863;{Dravet syndrome, modifier of} 607208 19763161;29500686;30834459;23895530;33216760 False 1 0;22;78 15.312 False ENSG00000169432 ENSG00000169432 HGNC:10597 SEC24D gene SEC24D Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Intellectual disability and epilepsy 25558065 False 1 0;33;67 15.312 False ENSG00000150961 ENSG00000150961 HGNC:10706 SEC31A gene SEC31A Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 618651 30464055 False 1 0;100;0 15.312 False ENSG00000138674 ENSG00000138674 HGNC:17052 SHH gene SHH Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic False 1 0;100;0 15.312 False ENSG00000164690 ENSG00000164690 HGNC:10848 SHPK gene SHPK London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Sedoheptulokinase deficiency (Other metabolic disorders);[Sedoheptulokinase deficiency] 617213 27604308 False 1 0;0;100 15.312 False ENSG00000197417 ENSG00000197417 HGNC:1492 SLC22A4 gene SLC22A4 Expert Review Red Epilepsy - early onset or syndromic Unknown 24816252 False 1 0;0;100 15.312 False ENSG00000197208 ENSG00000197208 HGNC:10968 SLC25A19 gene SLC25A19 NHS GMS;Expert Review Red;Wessex and West Midlands GLH Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Microcephaly, Amish type, 607196;Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 False 1 0;50;50 15.312 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A2 gene SLC25A2 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) 27604308 False 1 0;0;100 15.312 False ENSG00000120329 ENSG00000120329 HGNC:22921 SLC25A40 gene SLC25A40 Expert Review Red Epilepsy - early onset or syndromic Unknown False 1 0;100;0 15.312 False ENSG00000075303 ENSG00000075303 HGNC:29680 SLC26A6 gene SLC26A6 Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Enteric hyperoxaluria and nephrolithiasis 35115415 False 1 0;0;0 15.312 False ENSG00000225697 ENSG00000225697 HGNC:14472 SLC27A5 gene SLC27A5 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Bile acid CoA ligase deficiency (Disorders of bile acid biosynthesis) 27604308 False 1 0;0;100 15.312 False ENSG00000083807 ENSG00000083807 HGNC:10999 SLC35A3 gene SLC35A3 Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553 24031089 False 1 0;0;0 15.312 False ENSG00000117620 ENSG00000117620 HGNC:11023 SLC36A2 gene SLC36A2 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Iminoglycinuria, digenic 242600;Hyperglycinuria 138500;Hyperglycinuria AR 27604308;19033659 False 1 0;0;0 15.312 False ENSG00000186335 ENSG00000186335 HGNC:18762 SLC52A1 gene SLC52A1 Expert Review Red Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Riboflavin deficiency 615026 21089064 False 1 0;0;100 15.312 False ENSG00000132517 ENSG00000132517 HGNC:30225 SLC5A6 gene SLC5A6 NHS GMS;Expert Review Red;Expert list Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973 27904971;31392107;31754459;23104561;29669219;35013551;38036278;38012394;37391029;31754459 False 1 25;0;75 15.312 False ENSG00000138074 ENSG00000138074 HGNC:11041 SLC6A19 gene SLC6A19 Expert Review Red;Wessex and West Midlands GLH;NHS GMS;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Expert Review Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hartnup disorder, 234500 27604308;20399395;19335424;24596948;15592994 False 1 33;67;0 15.312 False ENSG00000174358 ENSG00000174358 HGNC:27960 SLC6A20 gene SLC6A20 NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperglycinuria 24816252;19033659 False 1 0;0;100 15.312 False ENSG00000163817 ENSG00000163817 HGNC:30927 SLC6A5 gene SLC6A5 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Expert Epilepsy - early onset or syndromic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 3, 614618 False 1 0;43;57 15.312 False ENSG00000165970 ENSG00000165970 HGNC:11051 SLC7A6OS gene SLC7A6OS Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic, 12 OMIM:619191 25803583;33085104 False 1 0;0;100 15.312 False ENSG00000103061 ENSG00000103061 HGNC:25807 SLCO1B1 gene SLCO1B1 Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperbilirubinemia, Rotor type, digenic 24816252;22232210 False 1 0;0;100 15.312 False ENSG00000134538 ENSG00000134538 HGNC:10959 SLCO1B3 gene SLCO1B3 Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Hyperbilirubinemia, Rotor type, digenic 22232210 False 1 0;0;100 15.312 False ENSG00000111700 ENSG00000111700 HGNC:10961 SRPX2 gene SRPX2 Expert Review Red;Wessex and West Midlands GLH;NHS GMS;Expert Epilepsy - early onset or syndromic X-LINKED: hemizygous mutation in males, biallelic mutations in females ?Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, OMIM:300643 24179158;18718938;29663392;24995671;16497722 False 1 0;14;86 15.312 False ENSG00000102359 ENSG00000102359 HGNC:30668 SRRT gene SRRT Expert Review Red Epilepsy - early onset or syndromic Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 1 0;0;100 15.312 False ENSG00000087087 ENSG00000087087 HGNC:24101 STIL gene STIL NHS GMS;Expert Review Red;Wessex and West Midlands GLH Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Microcephaly 7, primary, 612703 False 1 0;50;50 15.312 False ENSG00000123473 ENSG00000123473 HGNC:10879 STT3B gene STT3B Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Ix 615597 False 1 0;0;0 15.312 False ENSG00000163527 ENSG00000163527 HGNC:30611 SUCLG2 gene SUCLG2 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Succinyl-CoA synthetase deficiency (Other metabolic disorders);No OMIM phenotype 27604308 False 1 0;50;50 15.312 False ENSG00000172340 ENSG00000172340 HGNC:11450 SUGCT gene SUGCT London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Glutaric aciduria type III (Organic acidurias);Glutaric aciduria type III 231690 27604308 False 1 0;0;100 15.312 False ENSG00000175600 ENSG00000175600 HGNC:16001 TCN1 gene TCN1 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Haptocorrin deficiency (Disorders of cobalamin absorption, transport and metabolism);No OMIM number 27604308 False 1 0;0;100 15.312 False ENSG00000134827 ENSG00000134827 HGNC:11652 TDO2 gene TDO2 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM number;Tryptophanaemia (Disorders of histidine, tryptophan or lysine metabolism) 27604308 False 1 0;0;100 15.312 False ENSG00000151790 ENSG00000151790 HGNC:11708 TGIF1 gene TGIF1 NHS GMS;Expert Review Red;Wessex and West Midlands GLH Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 4, 142946 False 1 0;50;50 15.312 False ENSG00000177426 ENSG00000177426 HGNC:11776 TIMM44 gene TIMM44 Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 15.312 False ENSG00000104980 ENSG00000104980 HGNC:17316 TM6SF2 gene TM6SF2 Expert Review Red Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown non-alcoholic fatty liver disease 28235613 False 1 0;0;100 15.312 False ENSG00000213996 ENSG00000213996 HGNC:11861 TMEM126A gene TMEM126A Expert Review Red;London North GLH;NHS GMS Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Optic atrophy 7 612989 27604308;31119195 False 1 50;0;50 15.312 False ENSG00000171202 ENSG00000171202 HGNC:25382 TPMT gene TPMT London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Thiopurine S-methyltransferase deficiency (Disorders of purine metabolism);{Thiopurines, poor metabolism of, 1} 610460 27604308 False 1 0;0;100 15.312 False ENSG00000137364 ENSG00000137364 HGNC:12014 TREH gene TREH London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Trehalase deficiency (Other carbohydrate disorders) 27604308 False 1 0;0;100 15.312 False ENSG00000118094 ENSG00000118094 HGNC:12266 TUBA3E gene TUBA3E Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Global developmental delay, primary microcephaly, lissencephaly, epilepsy 25558065 False 1 0;33;67 15.312 False ENSG00000152086 ENSG00000152086 HGNC:20765 TXN2 gene TXN2 Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 29, 616811;infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy 26626369 False 1 0;0;0 15.312 False ENSG00000100348 ENSG00000100348 HGNC:17772 TXN2 gene TXN2 Expert Review Red Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy;?Combined oxidative phosphorylation deficiency 29 PMID: 26626369 False 1 100;0;0 15.312 False ENSG00000100348 ENSG00000100348 HGNC:17772 UNC13B gene UNC13B Expert Review Red;Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted partial epilepsy, MONDO:0005384 33876820;35380625 False 1 0;0;100 15.312 False ENSG00000198722 ENSG00000198722 HGNC:12566 UQCRH gene UQCRH Expert Review Red Epilepsy - early onset or syndromic Unknown No OMIM phenotype False 1 0;100;0 15.312 False ENSG00000173660 ENSG00000173660 HGNC:12590 USF1 gene USF1 London North GLH;NHS GMS;Expert Review Red Epilepsy - early onset or syndromic Unknown Familial combined hyperlipoproteinaemia (Inherited mixed hyperlipidaemias) 27604308 False 1 0;0;100 15.312 False ENSG00000158773 ENSG00000158773 HGNC:12593 VPS13C gene VPS13C Expert Review Red;Expert Review Red;Victorian Clinical Genetics Services Epilepsy - early onset or syndromic Unknown False 1 33;0;67 15.312 False ENSG00000129003 ENSG00000129003 HGNC:23594 ZIC2 gene ZIC2 NHS GMS;Expert Review Red;Wessex and West Midlands GLH Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 5, 609637 False 1 0;50;50 15.312 False ENSG00000043355 ENSG00000043355 HGNC:12873 GLS_GCA str GLS Expert Review Red;Literature Epilepsy - early onset or syndromic BIALLELIC, autosomal or pseudoautosomal Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 30970188 False 1 100;0;0 15.312 False ENSG00000115419 ENSG00000115419 HGNC:4331 2 191745599 191745646 190880873 190880920 GCA 50 400 SAMD12_TTTCA str SAMD12 Literature Epilepsy - early onset or syndromic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Epilepsy, familial adult myoclonic, 1, OMIM:601068;epilepsy, familial adult myoclonic, 1, MONDO:0010985 30194086;29507423;29939203;32203200 False 1 100;0;0 15.312 False ENSG00000177570 ENSG00000177570 HGNC:31750 8 118366902 118367003 TTTCA 0 100 STARD7_ATTTC str STARD7 Literature Epilepsy - early onset or syndromic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, familial adult myoclonic, 2, OMIM:607876;epilepsy, familial adult myoclonic, 2, MONDO:0011930 31664034 False 1 100;0;0 15.312 False ENSG00000084090 ENSG00000084090 HGNC:18063 2 96197066 96197121 ATTTC 0 274