Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=143
{ "count": 35557, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=144", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=142", "results": [ { "gene_data": { "alias": [ "DKFZP434J046", "FLJ33298" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24502", "gene_name": "WD repeat domain 62", "omim_gene": [ "613583" ], "alias_name": null, "gene_symbol": "WDR62", "hgnc_symbol": "WDR62", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:36545783-36596008", "ensembl_id": "ENSG00000075702" } }, "GRch38": { "90": { "location": "19:36054881-36105106", "ensembl_id": "ENSG00000075702" } } }, "hgnc_date_symbol_changed": "2005-05-09" }, "entity_type": "gene", "entity_name": "WDR62", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21834044", "20890278", "20729831" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317", "MONDO:0011435" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ14888", "HSPC264" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25928", "gene_name": "WD repeat domain 73", "omim_gene": [ "616144" ], "alias_name": null, "gene_symbol": "WDR73", "hgnc_symbol": "WDR73", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:85185999-85197574", "ensembl_id": "ENSG00000177082" } }, "GRch38": { "90": { "location": "15:84639281-84654343", "ensembl_id": "ENSG00000177082" } } }, "hgnc_date_symbol_changed": "2005-05-26" }, "entity_type": "gene", "entity_name": "WDR73", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25466283", "26123727", "25873735", "26070982", "30315938" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Galloway-Mowat syndrome 1 MIM#251300" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FOR", "WOX1", "SDR41C1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12799", "gene_name": "WW domain containing oxidoreductase", "omim_gene": [ "605131" ], "alias_name": [ "short chain dehydrogenase/reductase family 41C, member 1" ], "gene_symbol": "WWOX", "hgnc_symbol": "WWOX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:78133310-79246564", "ensembl_id": "ENSG00000186153" } }, "GRch38": { "90": { "location": "16:78099413-79212667", "ensembl_id": "ENSG00000186153" } } }, "hgnc_date_symbol_changed": "2000-07-31" }, "entity_type": "gene", "entity_name": "WWOX", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24456803", "25411445", "32051108", "32037574", "30356099", "29808465" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Developmental and epileptic encephalopathy 28, MIM# 616211" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "SV/CNV" ], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PPP1R170" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12852", "gene_name": "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma", "omim_gene": [ "605356" ], "alias_name": [ "14-3-3 gamma", "protein phosphatase 1, regulatory subunit 170" ], "gene_symbol": "YWHAG", "hgnc_symbol": "YWHAG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:75956116-75988348", "ensembl_id": "ENSG00000170027" } }, "GRch38": { "90": { "location": "7:76326794-76359031", "ensembl_id": "ENSG00000170027" } } }, "hgnc_date_symbol_changed": "1993-09-20" }, "entity_type": "gene", "entity_name": "YWHAG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33393734", "33590706", "31926053", "33767733" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Developmental and epileptic encephalopathy 56, (MIMI#617665)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "C2H2-171", "TAZ-1", "RP58" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13030", "gene_name": "zinc finger and BTB domain containing 18", "omim_gene": [ "608433" ], "alias_name": null, "gene_symbol": "ZBTB18", "hgnc_symbol": "ZBTB18", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:244214585-244220778", "ensembl_id": "ENSG00000179456" } }, "GRch38": { "90": { "location": "1:244048939-244057476", "ensembl_id": "ENSG00000179456" } } }, "hgnc_date_symbol_changed": "2013-01-09" }, "entity_type": "gene", "entity_name": "ZBTB18", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29573576" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Mental retardation, autosomal dominant 22, MIM# 612337" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0569", "SIP-1", "SIP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14881", "gene_name": "zinc finger E-box binding homeobox 2", "omim_gene": [ "605802" ], "alias_name": [ "SMAD interacting protein 1" ], "gene_symbol": "ZEB2", "hgnc_symbol": "ZEB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:145141648-145282147", "ensembl_id": "ENSG00000169554" } }, "GRch38": { "90": { "location": "2:144364364-144524583", "ensembl_id": "ENSG00000169554" } } }, "hgnc_date_symbol_changed": "2007-02-15" }, "entity_type": "gene", "entity_name": "ZEB2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29300384", "27831545", "24715670", "19215041", "17958891" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Mowat-Wilson syndrome, MIM# 235730", "MONDO:0009341" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "SV/CNV" ], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PCDGF", "PGRN", "CLN11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4601", "gene_name": "granulin precursor", "omim_gene": [ "138945" ], "alias_name": [ "progranulin" ], "gene_symbol": "GRN", "hgnc_symbol": "GRN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:42422614-42430470", "ensembl_id": "ENSG00000030582" } }, "GRch38": { "90": { "location": "17:44345086-44353102", "ensembl_id": "ENSG00000030582" } } }, "hgnc_date_symbol_changed": "1992-11-30" }, "entity_type": "gene", "entity_name": "GRN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 22608501", "31855245" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Ceroid lipofuscinosis, neuronal, 11\t614706" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TFEA", "bHLHe33" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11752", "gene_name": "transcription factor binding to IGHM enhancer 3", "omim_gene": [ "314310" ], "alias_name": null, "gene_symbol": "TFE3", "hgnc_symbol": "TFE3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:48886242-48901012", "ensembl_id": "ENSG00000068323" } }, "GRch38": { "90": { "location": "X:49028726-49043486", "ensembl_id": "ENSG00000068323" } } }, "hgnc_date_symbol_changed": "1990-10-16" }, "entity_type": "gene", "entity_name": "TFE3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "30595499", "31833172", "32409512" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066", "Intellectual disability", "Epilepsy", "Coarse facial features" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GalNAc-T2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4124", "gene_name": "polypeptide N-acetylgalactosaminyltransferase 2", "omim_gene": [ "602274" ], "alias_name": [ "polypeptide GalNAc transferase 2" ], "gene_symbol": "GALNT2", "hgnc_symbol": "GALNT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:230193536-230417870", "ensembl_id": "ENSG00000143641" } }, "GRch38": { "90": { "location": "1:230057990-230282124", "ensembl_id": "ENSG00000143641" } } }, "hgnc_date_symbol_changed": "1996-10-26" }, "entity_type": "gene", "entity_name": "GALNT2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32293671" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Congenital disorder of glycosylation" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4092", "gene_name": "glutamate decarboxylase 1", "omim_gene": [ "605363" ], "alias_name": null, "gene_symbol": "GAD1", "hgnc_symbol": "GAD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:171669723-171717661", "ensembl_id": "ENSG00000128683" } }, "GRch38": { "90": { "location": "2:170813213-170861151", "ensembl_id": "ENSG00000128683" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "GAD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32282878" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy 89, MIM# 619124" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "EXO70", "KIAA1067", "YJL085W", "Exo70p", "BLOM4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23214", "gene_name": "exocyst complex component 7", "omim_gene": [ "608163" ], "alias_name": null, "gene_symbol": "EXOC7", "hgnc_symbol": "EXOC7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:74077087-74117657", "ensembl_id": "ENSG00000182473" } }, "GRch38": { "90": { "location": "17:76081017-76121576", "ensembl_id": "ENSG00000182473" } } }, "hgnc_date_symbol_changed": "2004-01-13" }, "entity_type": "gene", "entity_name": "EXOC7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 32103185" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review Green", "Literature" ], "phenotypes": [ "brain atrophy", "seizures", "developmental delay", "microcephaly" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GTT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18063", "gene_name": "StAR related lipid transfer domain containing 7", "omim_gene": [ "616712" ], "alias_name": null, "gene_symbol": "STARD7", "hgnc_symbol": "STARD7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:96850597-96874563", "ensembl_id": "ENSG00000084090" } }, "GRch38": { "90": { "location": "2:96184859-96208825", "ensembl_id": "ENSG00000084090" } } }, "hgnc_date_symbol_changed": "2002-01-24" }, "entity_type": "gene", "entity_name": "STARD7", "confidence_level": "0", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "11701600", "24114805", "31664034" ], "evidence": [ "Expert Review Removed", "Literature" ], "phenotypes": [ "Epilepsy, familial adult myoclonic, 2, 607876" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "STR" ], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DKFZp434H2226" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25287", "gene_name": "LMBR1 domain containing 2", "omim_gene": null, "alias_name": null, "gene_symbol": "LMBRD2", "hgnc_symbol": "LMBRD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:36098514-36152063", "ensembl_id": "ENSG00000164187" } }, "GRch38": { "90": { "location": "5:36098412-36151961", "ensembl_id": "ENSG00000164187" } } }, "hgnc_date_symbol_changed": "2005-07-25" }, "entity_type": "gene", "entity_name": "LMBRD2", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "32820033", "https://doi.org/10.1101/797787" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Developmental delay with variable neurologic and brain abnormalities, MIM# 619694", "Global developmental delay", "Intellectual disability", "Microcephaly", "Seizures", "Abnormality of nervous system morphology", "Abnormality of the eye" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HSPC192", "FLJ10595", "FLJ21788", "LARS1", "LEUS", "RNTLS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6512", "gene_name": "leucyl-tRNA synthetase", "omim_gene": [ "151350" ], "alias_name": [ "leucine tRNA ligase 1, cytoplasmic" ], "gene_symbol": "LARS", "hgnc_symbol": "LARS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:145492601-145562223", "ensembl_id": "ENSG00000133706" } }, "GRch38": { "90": { "location": "5:146113038-146182660", "ensembl_id": "ENSG00000133706" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "LARS", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "32699352" ], "evidence": [ "Expert Review Green", "NHS GMS", "Expert Review Green", "Literature" ], "phenotypes": [ "Infantile liver failure syndrome 1, MIM# 615438", "Seizures", "Intellectual disability", "Encephalopathy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NARS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7643", "gene_name": "asparaginyl-tRNA synthetase", "omim_gene": [ "108410" ], "alias_name": [ "asparagine tRNA ligase 1, cytoplasmic" ], "gene_symbol": "NARS", "hgnc_symbol": "NARS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:55267888-55289445", "ensembl_id": "ENSG00000134440" } }, "GRch38": { "90": { "location": "18:57600656-57622213", "ensembl_id": "ENSG00000134440" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "NARS", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "32738225" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091", "Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092", "Abnormal muscle tone", "Microcephaly", "Global developmental delay", "Intellectual disability", "Seizures", "Ataxia", "Abnormality of the face", "Demyelinating peripheral neuropathy" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TIP60", "PLIP", "cPLA2", "HTATIP1", "ESA1", "ZC2HC5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5275", "gene_name": "lysine acetyltransferase 5", "omim_gene": [ "601409" ], "alias_name": [ "Tat interacting protein, 60kDa", "K-acetyltransferase 5" ], "gene_symbol": "KAT5", "hgnc_symbol": "KAT5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:65479467-65487075", "ensembl_id": "ENSG00000172977" } }, "GRch38": { "90": { "location": "11:65711996-65719604", "ensembl_id": "ENSG00000172977" } } }, "hgnc_date_symbol_changed": "2008-07-04" }, "entity_type": "gene", "entity_name": "KAT5", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "32822602" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103", "Severe global developmental delay", "Intellectual disability", "Seizures", "Microcephaly", "Behavioral abnormality", "Sleep disturbance", "Morphological abnormality of the central nervous system", "Short stature", "Oral cleft", "Abnormality of the face" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4080", "gene_name": "gamma-aminobutyric acid type A receptor alpha6 subunit", "omim_gene": [ "137143" ], "alias_name": [ "GABA(A) receptor, alpha 6" ], "gene_symbol": "GABRA6", "hgnc_symbol": "GABRA6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:160974069-161129599", "ensembl_id": "ENSG00000145863" } }, "GRch38": { "90": { "location": "5:161547063-161702593", "ensembl_id": "ENSG00000145863" } } }, "hgnc_date_symbol_changed": "1994-04-20" }, "entity_type": "gene", "entity_name": "GABRA6", "confidence_level": "1", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "PMID: 21930603", "29215089", "19429026" ], "evidence": [ "Expert Review Red", "Literature", "Literature" ], "phenotypes": [ "BFIE", "CAE" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC33727", "FLJ11273" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22407", "gene_name": "transmembrane protein 106B", "omim_gene": [ "613413" ], "alias_name": null, "gene_symbol": "TMEM106B", "hgnc_symbol": "TMEM106B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:12250867-12282993", "ensembl_id": "ENSG00000106460" } }, "GRch38": { "90": { "location": "7:12211241-12243367", "ensembl_id": "ENSG00000106460" } } }, "hgnc_date_symbol_changed": "2005-12-19" }, "entity_type": "gene", "entity_name": "TMEM106B", "confidence_level": "2", "penetrance": "Complete", "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "29186371", "29444210", "32595021" ], "evidence": [ "Expert Review Green", "Expert Review Amber", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Leukodystrophy, hypomyelinating, 16 (MIM #617964)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1055" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29183", "gene_name": "TBC1 domain family member 2B", "omim_gene": null, "alias_name": null, "gene_symbol": "TBC1D2B", "hgnc_symbol": "TBC1D2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:78276378-78370066", "ensembl_id": "ENSG00000167202" } }, "GRch38": { "90": { "location": "15:77984036-78077724", "ensembl_id": "ENSG00000167202" } } }, "hgnc_date_symbol_changed": "2005-11-29" }, "entity_type": "gene", "entity_name": "TBC1D2B", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "32623794" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323", "Global developmental delay", "Intellectual disability", "Seizures", "Gingival overgrowth", "Behavioral abnormality", "Abnormality of the mandible", "Abnormality of brain morphology", "Abnormality of the eye", "Hearing abnormality" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TINUR", "NOT", "RNR1", "HZF-3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7981", "gene_name": "nuclear receptor subfamily 4 group A member 2", "omim_gene": [ "601828" ], "alias_name": null, "gene_symbol": "NR4A2", "hgnc_symbol": "NR4A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:157180944-157198860", "ensembl_id": "ENSG00000153234" } }, "GRch38": { "90": { "location": "2:156324432-156342348", "ensembl_id": "ENSG00000153234" } } }, "hgnc_date_symbol_changed": "1997-07-11" }, "entity_type": "gene", "entity_name": "NR4A2", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "31428396", "32366965" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2553", "gene_name": "cullin 3", "omim_gene": [ "603136" ], "alias_name": null, "gene_symbol": "CUL3", "hgnc_symbol": "CUL3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:225334867-225450110", "ensembl_id": "ENSG00000036257" } }, "GRch38": { "90": { "location": "2:224470150-224585397", "ensembl_id": "ENSG00000036257" } } }, "hgnc_date_symbol_changed": "1998-10-29" }, "entity_type": "gene", "entity_name": "CUL3", "confidence_level": "2", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "32341456" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "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" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:32", "gene_name": "ATP binding cassette subfamily A member 2", "omim_gene": [ "600047" ], "alias_name": null, "gene_symbol": "ABCA2", "hgnc_symbol": "ABCA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:139901686-139923367", "ensembl_id": "ENSG00000107331" } }, "GRch38": { "90": { "location": "9:137007227-137028922", "ensembl_id": "ENSG00000107331" } } }, "hgnc_date_symbol_changed": "1994-03-16" }, "entity_type": "gene", "entity_name": "ABCA2", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "30237576", "29302074", "31047799" ], "evidence": [ "Expert Review Green", "Expert Review", "Expert Review Green", "Literature" ], "phenotypes": [ "Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12525", "gene_name": "UDP-glucose 6-dehydrogenase", "omim_gene": [ "603370" ], "alias_name": null, "gene_symbol": "UGDH", "hgnc_symbol": "UGDH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:39500375-39529931", "ensembl_id": "ENSG00000109814" } }, "GRch38": { "90": { "location": "4:39498755-39528311", "ensembl_id": "ENSG00000109814" } } }, "hgnc_date_symbol_changed": "1997-12-01" }, "entity_type": "gene", "entity_name": "UGDH", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "32001716" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review Green", "Literature" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 84 - MIM #618792" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "jdf2", "p528", "D15F37S1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4868", "gene_name": "HECT and RLD domain containing E3 ubiquitin protein ligase 2", "omim_gene": [ "605837" ], "alias_name": null, "gene_symbol": "HERC2", "hgnc_symbol": "HERC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:28356186-28567298", "ensembl_id": "ENSG00000128731" } }, "GRch38": { "90": { "location": "15:28111040-28322152", "ensembl_id": "ENSG00000128731" } } }, "hgnc_date_symbol_changed": "1999-01-07" }, "entity_type": "gene", "entity_name": "HERC2", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "23065719", "23243086", "30902390", "32571899", "27848944", "26077850", "27759030" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mental retardation, autosomal recessive 38 (MIM 615516)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FinGER8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30511", "gene_name": "Yip1 interacting factor homolog B, membrane trafficking protein", "omim_gene": null, "alias_name": null, "gene_symbol": "YIF1B", "hgnc_symbol": "YIF1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:38795753-38807913", "ensembl_id": "ENSG00000167645" } }, "GRch38": { "90": { "location": "19:38305104-38317273", "ensembl_id": "ENSG00000167645" } } }, "hgnc_date_symbol_changed": "2005-03-14" }, "entity_type": "gene", "entity_name": "YIF1B", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "32006098" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Kaya-Barakat-Masson syndrome, MIM# 619125", "Central hypotonia", "Failure to thrive", "Microcephaly", "Global developmental delay", "Intellectual disability", "Seizures", "Spasticity", "Abnormality of movement" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SPTBN3", "KIAA1642" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14896", "gene_name": "spectrin beta, non-erythrocytic 4", "omim_gene": [ "606214" ], "alias_name": null, "gene_symbol": "SPTBN4", "hgnc_symbol": "SPTBN4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:40972148-41082370", "ensembl_id": "ENSG00000160460" } }, "GRch38": { "90": { "location": "19:40466241-40576464", "ensembl_id": "ENSG00000160460" } } }, "hgnc_date_symbol_changed": "2001-05-09" }, "entity_type": "gene", "entity_name": "SPTBN4", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "28540413", "28940097", "29861105", "31230720", "31857255" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MRCKB", "KIAA1124" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1738", "gene_name": "CDC42 binding protein kinase beta", "omim_gene": [ "614062" ], "alias_name": null, "gene_symbol": "CDC42BPB", "hgnc_symbol": "CDC42BPB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:103398716-103523799", "ensembl_id": "ENSG00000198752" } }, "GRch38": { "90": { "location": "14:102932379-103057462", "ensembl_id": "ENSG00000198752" } } }, "hgnc_date_symbol_changed": "1998-11-06" }, "entity_type": "gene", "entity_name": "CDC42BPB", "confidence_level": "2", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "32031333" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1172", "DKFZp434E098", "SRA4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19304", "gene_name": "SR-related CTD associated factor 4", "omim_gene": [ "616023" ], "alias_name": null, "gene_symbol": "SCAF4", "hgnc_symbol": "SCAF4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:33043346-33104388", "ensembl_id": "ENSG00000156304" } }, "GRch38": { "90": { "location": "21:31671033-31732075", "ensembl_id": "ENSG00000156304" } } }, "hgnc_date_symbol_changed": "2011-01-10" }, "entity_type": "gene", "entity_name": "SCAF4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32730804" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Fliedner-Zweier syndrome, MIM#620511" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CEZANNE2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20718", "gene_name": "OTU deubiquitinase 7A", "omim_gene": [ "612024" ], "alias_name": null, "gene_symbol": "OTUD7A", "hgnc_symbol": "OTUD7A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:31775329-32162992", "ensembl_id": "ENSG00000169918" } }, "GRch38": { "90": { "location": "15:31475398-31870789", "ensembl_id": "ENSG00000169918" } } }, "hgnc_date_symbol_changed": "2006-07-07" }, "entity_type": "gene", "entity_name": "OTUD7A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31997314", "29395075", "29395074", "33381903", "36180924", "41028987" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "SV/CNV" ], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0735", "HsT19680" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16874", "gene_name": "synaptic vesicle glycoprotein 2B", "omim_gene": [ "185861" ], "alias_name": null, "gene_symbol": "SV2B", "hgnc_symbol": "SV2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:91643180-91844539", "ensembl_id": "ENSG00000185518" } }, "GRch38": { "90": { "location": "15:91099950-91301309", "ensembl_id": "ENSG00000185518" } } }, "hgnc_date_symbol_changed": "2003-02-24" }, "entity_type": "gene", "entity_name": "SV2B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23617838", "23937191" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "seizures" ], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GLUR7", "GPRC1G", "mGlu7", "MGLUR7", "PPP1R87" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4599", "gene_name": "glutamate metabotropic receptor 7", "omim_gene": [ "604101" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 87" ], "gene_symbol": "GRM7", "hgnc_symbol": "GRM7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:6811688-7783215", "ensembl_id": "ENSG00000196277" } }, "GRch38": { "90": { "location": "3:6770001-7741533", "ensembl_id": "ENSG00000196277" } } }, "hgnc_date_symbol_changed": "1995-10-11" }, "entity_type": "gene", "entity_name": "GRM7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32286009", "32248644" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Epilepsy, microcephaly, developmental delay", "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA), MIM#618922" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ39458" ], "biotype": "protein_coding", "hgnc_id": "HGNC:31750", "gene_name": "sterile alpha motif domain containing 12", "omim_gene": null, "alias_name": null, "gene_symbol": "SAMD12", "hgnc_symbol": "SAMD12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:119201698-119634234", "ensembl_id": "ENSG00000177570" } }, "GRch38": { "90": { "location": "8:118189459-118621995", "ensembl_id": "ENSG00000177570" } } }, "hgnc_date_symbol_changed": "2004-07-15" }, "entity_type": "gene", "entity_name": "SAMD12", "confidence_level": "0", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "30194086", "29507423" ], "evidence": [ "Expert Review Removed", "Literature", "Literature" ], "phenotypes": [ "Epilepsy, familial adult myoclonic, 1, MIM# 601068" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [ "STR", "deep intronic" ], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "TAG-1", "TAX1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2172", "gene_name": "contactin 2", "omim_gene": [ "190197" ], "alias_name": null, "gene_symbol": "CNTN2", "hgnc_symbol": "CNTN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:205012325-205047627", "ensembl_id": "ENSG00000184144" } }, "GRch38": { "90": { "location": "1:205042937-205078284", "ensembl_id": "ENSG00000184144" } } }, "hgnc_date_symbol_changed": "2000-05-26" }, "entity_type": "gene", "entity_name": "CNTN2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23518707", "34120799", "34691156" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Epilepsy, MONDO:0015653, CNTN2-related", "Epilepsy, myoclonic, familial adult, 5 MIM#615400" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DXS9928E", "XAP5", "HXC-26", "9F" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18786", "gene_name": "family with sequence similarity 50 member A", "omim_gene": [ "300453" ], "alias_name": [ "DNA segment on chromosome X (unique) 9928 expressed sequence" ], "gene_symbol": "FAM50A", "hgnc_symbol": "FAM50A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153672473-153679002", "ensembl_id": "ENSG00000071859" } }, "GRch38": { "90": { "location": "X:154444126-154450654", "ensembl_id": "ENSG00000071859" } } }, "hgnc_date_symbol_changed": "2004-10-06" }, "entity_type": "gene", "entity_name": "FAM50A", "confidence_level": "2", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "32703943" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review Amber", "Literature" ], "phenotypes": [ "Mental retardation syndrome, X-linked, Armfield type (MIM #300261)" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DENN", "KIAA0358", "RAB3GEP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6766", "gene_name": "MAP kinase activating death domain", "omim_gene": [ "603584" ], "alias_name": null, "gene_symbol": "MADD", "hgnc_symbol": "MADD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:47290712-47351582", "ensembl_id": "ENSG00000110514" } }, "GRch38": { "90": { "location": "11:47269161-47330031", "ensembl_id": "ENSG00000110514" } } }, "hgnc_date_symbol_changed": "1999-12-17" }, "entity_type": "gene", "entity_name": "MADD", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "28940097", "29302074", "32761064" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "DEEAH syndrome, MIM#619004 (Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities)", "Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia (NEDDISH), MIM# 619005" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1028", "bA346C16.3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19338", "gene_name": "cyclin dependent kinase 19", "omim_gene": [ "614720" ], "alias_name": null, "gene_symbol": "CDK19", "hgnc_symbol": "CDK19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:110931181-111137161", "ensembl_id": "ENSG00000155111" } }, "GRch38": { "90": { "location": "6:110609978-110815958", "ensembl_id": "ENSG00000155111" } } }, "hgnc_date_symbol_changed": "2009-12-16" }, "entity_type": "gene", "entity_name": "CDK19", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32330417" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Intellectual disability", "epileptic encephalopathy", "Epileptic encephalopathy, early infantile, 87, MIM#\t618916" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ10496" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25536", "gene_name": "DALR anticodon binding domain containing 3", "omim_gene": null, "alias_name": null, "gene_symbol": "DALRD3", "hgnc_symbol": "DALRD3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:49052921-49059726", "ensembl_id": "ENSG00000178149" } }, "GRch38": { "90": { "location": "3:49015488-49022293", "ensembl_id": "ENSG00000178149" } } }, "hgnc_date_symbol_changed": "2005-01-10" }, "entity_type": "gene", "entity_name": "DALRD3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32427860", "39482881" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy, 86 MONDO:0030054" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "BRN1", "OTF8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9216", "gene_name": "POU class 3 homeobox 3", "omim_gene": [ "602480" ], "alias_name": null, "gene_symbol": "POU3F3", "hgnc_symbol": "POU3F3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:105471969-105476929", "ensembl_id": "ENSG00000198914" } }, "GRch38": { "90": { "location": "2:104855511-104858574", "ensembl_id": "ENSG00000198914" } } }, "hgnc_date_symbol_changed": "1995-03-17" }, "entity_type": "gene", "entity_name": "POU3F3", "confidence_level": "2", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "31303265", "33645921" ], "evidence": [ "Expert Review Amber", "Literature", "Expert Review Green", "Literature" ], "phenotypes": [ "Snijders Blok-Fisher syndrome\tMIM#618604" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "OCTN2", "SCD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10969", "gene_name": "solute carrier family 22 member 5", "omim_gene": [ "603377" ], "alias_name": null, "gene_symbol": "SLC22A5", "hgnc_symbol": "SLC22A5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:131705444-131731306", "ensembl_id": "ENSG00000197375" } }, "GRch38": { "90": { "location": "5:132369752-132395614", "ensembl_id": "ENSG00000197375" } } }, "hgnc_date_symbol_changed": "1998-07-16" }, "entity_type": "gene", "entity_name": "SLC22A5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33005244" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Intractable epilepsy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ22329" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26182", "gene_name": "collagen beta(1-O)galactosyltransferase 1", "omim_gene": [ "617531" ], "alias_name": [ "Procollagen galactosyltransferase", "Hydroxylysine galactosyltransferase" ], "gene_symbol": "COLGALT1", "hgnc_symbol": "COLGALT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:17666403-17693971", "ensembl_id": "ENSG00000130309" } }, "GRch38": { "90": { "location": "19:17555594-17583162", "ensembl_id": "ENSG00000130309" } } }, "hgnc_date_symbol_changed": "2013-02-27" }, "entity_type": "gene", "entity_name": "COLGALT1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30412317", "33709034", "31759980" ], "evidence": [ "Expert Review Amber", "Expert Review", "Expert Review Green", "Other" ], "phenotypes": [ "Brain small vessel disease 3 MIM#618360" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HSP78", "SKD3", "FLJ13152", "ANKCLB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30664", "gene_name": "ClpB homolog, mitochondrial AAA ATPase chaperonin", "omim_gene": [ "616254" ], "alias_name": [ "suppressor of potassium transport defect 3", "ankyrin-repeat containing bacterial clp fusion" ], "gene_symbol": "CLPB", "hgnc_symbol": "CLPB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:72003469-72145692", "ensembl_id": "ENSG00000162129" } }, "GRch38": { "90": { "location": "11:72292425-72434680", "ensembl_id": "ENSG00000162129" } } }, "hgnc_date_symbol_changed": "2005-10-04" }, "entity_type": "gene", "entity_name": "CLPB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25597510", "34140661" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271", "3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ20561", "HsT18960", "nclf" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2077", "gene_name": "CLN6, transmembrane ER protein", "omim_gene": [ "606725" ], "alias_name": null, "gene_symbol": "CLN6", "hgnc_symbol": "CLN6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:68499330-68549549", "ensembl_id": "ENSG00000128973" } }, "GRch38": { "90": { "location": "15:68206992-68257211", "ensembl_id": "ENSG00000128973" } } }, "hgnc_date_symbol_changed": "1996-10-11" }, "entity_type": "gene", "entity_name": "CLN6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "11791207", "11727201", "21549341", "33798445", "33024953" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Expert Review" ], "phenotypes": [ "Ceroid lipofuscinosis, neuronal, 6, MIM# 601780", "Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PNPase", "OLD35", "old-35" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23166", "gene_name": "polyribonucleotide nucleotidyltransferase 1", "omim_gene": [ "610316" ], "alias_name": [ "polynucleotide phosphorylase", "3'-5' RNA exonuclease" ], "gene_symbol": "PNPT1", "hgnc_symbol": "PNPT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:55861400-55921045", "ensembl_id": "ENSG00000138035" } }, "GRch38": { "90": { "location": "2:55634265-55693910", "ensembl_id": "ENSG00000138035" } } }, "hgnc_date_symbol_changed": "2003-09-25" }, "entity_type": "gene", "entity_name": "PNPT1", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "33158637", "31752325" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 13, MIM# 614932" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1823", "MGC14797", "CENP-31" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18145", "gene_name": "PHD finger protein 6", "omim_gene": [ "300414" ], "alias_name": [ "centromere protein 31" ], "gene_symbol": "PHF6", "hgnc_symbol": "PHF6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:133507283-133562820", "ensembl_id": "ENSG00000156531" } }, "GRch38": { "90": { "location": "X:134373253-134428791", "ensembl_id": "ENSG00000156531" } } }, "hgnc_date_symbol_changed": "2002-02-28" }, "entity_type": "gene", "entity_name": "PHF6", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "32399860" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Borjeson-Forssman-Lehmann syndrome\tMIM#301900" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "AGM1", "DKFZP434B187", "PAGM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8907", "gene_name": "phosphoglucomutase 3", "omim_gene": [ "172100" ], "alias_name": [ "acetylglucosamine phosphomutase" ], "gene_symbol": "PGM3", "hgnc_symbol": "PGM3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:83870869-83903655", "ensembl_id": "ENSG00000013375" } }, "GRch38": { "90": { "location": "6:83161150-83193936", "ensembl_id": "ENSG00000013375" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PGM3", "confidence_level": "2", "penetrance": "Incomplete", "mode_of_pathogenicity": null, "publications": [ "33193641", "24589341" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Idiopathic focal epilepsy", "Immunodeficiency 23, MIM#\t615816" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ12528" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30740", "gene_name": "threonyl-tRNA synthetase 2, mitochondrial (putative)", "omim_gene": [ "612805" ], "alias_name": [ "threonine tRNA ligase 2, mitochondrial" ], "gene_symbol": "TARS2", "hgnc_symbol": "TARS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:150459887-150480078", "ensembl_id": "ENSG00000143374" } }, "GRch38": { "90": { "location": "1:150487364-150507609", "ensembl_id": "ENSG00000143374" } } }, "hgnc_date_symbol_changed": "2007-02-23" }, "entity_type": "gene", "entity_name": "TARS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33153448", "24827421", "34508595" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Literature", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 21 - 615918", "Epilepsy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "dj747L4.1", "TPIT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11596", "gene_name": "T-box 19", "omim_gene": [ "604614" ], "alias_name": [ "TBS 19" ], "gene_symbol": "TBX19", "hgnc_symbol": "TBX19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:168250278-168283664", "ensembl_id": "ENSG00000143178" } }, "GRch38": { "90": { "location": "1:168281040-168314426", "ensembl_id": "ENSG00000143178" } } }, "hgnc_date_symbol_changed": "1999-02-01" }, "entity_type": "gene", "entity_name": "TBX19", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31998673" ], "evidence": [ "Expert Review Green", "Literature", "Expert list" ], "phenotypes": [ "Adrenocorticotropic hormone deficiency - 201400" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ICF45", "FLJ11601", "FLJ20546", "IHG-1", "hTHG1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26053", "gene_name": "tRNA-histidine guanylyltransferase 1 like", "omim_gene": null, "alias_name": [ "interphase cytoplasmic foci protein 45", "induced by high glucose-1" ], "gene_symbol": "THG1L", "hgnc_symbol": "THG1L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:157158205-157168456", "ensembl_id": "ENSG00000113272" } }, "GRch38": { "90": { "location": "5:157731197-157741448", "ensembl_id": "ENSG00000113272" } } }, "hgnc_date_symbol_changed": "2006-09-01" }, "entity_type": "gene", "entity_name": "THG1L", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33682303" ], "evidence": [ "Expert Review Amber", "Literature", "Expert list", "Expert Review Green", "Literature" ], "phenotypes": [ "Spinocerebellar ataxia, autosomal recessive 28 - 618800", "Epilepsy", "Intellectual disability" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12335", "gene_name": "transient receptor potential cation channel subfamily C member 3", "omim_gene": [ "602345" ], "alias_name": null, "gene_symbol": "TRPC3", "hgnc_symbol": "TRPC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:122800182-122872909", "ensembl_id": "ENSG00000138741" } }, "GRch38": { "90": { "location": "4:121879027-121951754", "ensembl_id": "ENSG00000138741" } } }, "hgnc_date_symbol_changed": "1995-09-01" }, "entity_type": "gene", "entity_name": "TRPC3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32135163", "25477146" ], "evidence": [ "Expert Review Red", "Literature", "Expert list", "Expert Review Amber", "Expert list" ], "phenotypes": [ "?Spinocerebellar ataxia 41 - 616410" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1066", "JSAP1", "JIP3", "syd" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6884", "gene_name": "mitogen-activated protein kinase 8 interacting protein 3", "omim_gene": [ "605431" ], "alias_name": [ "homolog of Drosophila Sunday driver 2" ], "gene_symbol": "MAPK8IP3", "hgnc_symbol": "MAPK8IP3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:1756184-1820318", "ensembl_id": "ENSG00000138834" } }, "GRch38": { "90": { "location": "16:1706183-1770317", "ensembl_id": "ENSG00000138834" } } }, "hgnc_date_symbol_changed": "2000-08-22" }, "entity_type": "gene", "entity_name": "MAPK8IP3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 30612693" ], "evidence": [ "Expert Review Amber", "Literature", "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with or without variable brain abnormalities MIM#618443" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12382", "gene_name": "TSPY like 1", "omim_gene": [ "604714" ], "alias_name": null, "gene_symbol": "TSPYL1", "hgnc_symbol": "TSPYL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:116597741-116601066", "ensembl_id": "ENSG00000189241" } }, "GRch38": { "90": { "location": "6:116276578-116279903", "ensembl_id": "ENSG00000189241" } } }, "hgnc_date_symbol_changed": "2004-04-07" }, "entity_type": "gene", "entity_name": "TSPYL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32885560", "15273283", "33075815", "36082874" ], "evidence": [ "Expert Review Green", "Literature", "Expert list", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Sudden infant death with dysgenesis of the testes syndrome - 608800", "sudden infant death-dysgenesis of the testes syndrome MONDO:0012124" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2076", "gene_name": "CLN5, intracellular trafficking protein", "omim_gene": [ "608102" ], "alias_name": null, "gene_symbol": "CLN5", "hgnc_symbol": "CLN5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:77564795-77576652", "ensembl_id": "ENSG00000102805" } }, "GRch38": { "90": { "location": "13:76990660-77019143", "ensembl_id": "ENSG00000102805" } } }, "hgnc_date_symbol_changed": "1993-11-03" }, "entity_type": "gene", "entity_name": "CLN5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32983231", "15728307", "20157158" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Ceroid lipofuscinosis, neuronal, 5, MIM#\t256731" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Cav1.2", "CACH2", "CACN2", "TS", "LQT8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1390", "gene_name": "calcium voltage-gated channel subunit alpha1 C", "omim_gene": [ "114205" ], "alias_name": null, "gene_symbol": "CACNA1C", "hgnc_symbol": "CACNA1C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:2079952-2802108", "ensembl_id": "ENSG00000151067" } }, "GRch38": { "90": { "location": "12:1970786-2697950", "ensembl_id": "ENSG00000151067" } } }, "hgnc_date_symbol_changed": "1991-01-30" }, "entity_type": "gene", "entity_name": "CACNA1C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34163037" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM#\t620029" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NOV" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9099", "gene_name": "plexin A1", "omim_gene": [ "601055" ], "alias_name": null, "gene_symbol": "PLXNA1", "hgnc_symbol": "PLXNA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:126707437-126756235", "ensembl_id": "ENSG00000114554" } }, "GRch38": { "90": { "location": "3:126988594-127037392", "ensembl_id": "ENSG00000114554" } } }, "hgnc_date_symbol_changed": "1998-08-13" }, "entity_type": "gene", "entity_name": "PLXNA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34054129" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GCP6", "KIAA1669", "DJ402G11.6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18127", "gene_name": "tubulin gamma complex associated protein 6", "omim_gene": [ "610053" ], "alias_name": [ "gamma-tubulin complex component 6" ], "gene_symbol": "TUBGCP6", "hgnc_symbol": "TUBGCP6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:50656118-50683421", "ensembl_id": "ENSG00000128159" } }, "GRch38": { "90": { "location": "22:50217689-50244992", "ensembl_id": "ENSG00000128159" } } }, "hgnc_date_symbol_changed": "2002-08-14" }, "entity_type": "gene", "entity_name": "TUBGCP6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22279524", "33453472" ], "evidence": [ "Expert Review Green", "Literature", "Expert list", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Microcephaly and chorioretinopathy, autosomal recessive, 1 - 251270", "Epilepsy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12563", "gene_name": "uridine monophosphate synthetase", "omim_gene": [ "613891" ], "alias_name": [ "orotate phosphoribosyl transferase and orotidine-5'-decarboxylase" ], "gene_symbol": "UMPS", "hgnc_symbol": "UMPS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:124449213-124464040", "ensembl_id": "ENSG00000114491" } }, "GRch38": { "90": { "location": "3:124730366-124749273", "ensembl_id": "ENSG00000114491" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "UMPS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25757096", "33489760" ], "evidence": [ "Expert Review Green", "Literature", "Expert list", "Expert Review Green", "Expert Review", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Orotic aciduria - 258900", "Epilepsy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "U2AF65" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23156", "gene_name": "U2 small nuclear RNA auxiliary factor 2", "omim_gene": [ "191318" ], "alias_name": [ "U2 small nuclear ribonucleoprotein auxiliary factor (65kD)", "splicing factor U2AF 65 kD subunit", "U2 snRNP auxiliary factor large subunit" ], "gene_symbol": "U2AF2", "hgnc_symbol": "U2AF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:56165512-56186081", "ensembl_id": "ENSG00000063244" } }, "GRch38": { "90": { "location": "19:55654146-55674715", "ensembl_id": "ENSG00000063244" } } }, "hgnc_date_symbol_changed": "2003-10-28" }, "entity_type": "gene", "entity_name": "U2AF2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34112922", "37092751", "36747105", "37134193" ], "evidence": [ "Expert Review Green", "Literature", "Expert list", "Literature" ], "phenotypes": [ "Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1950", "gene_name": "cholinergic receptor muscarinic 1", "omim_gene": [ "118510" ], "alias_name": [ "acetylcholine receptor, muscarinic 1" ], "gene_symbol": "CHRM1", "hgnc_symbol": "CHRM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:62676151-62689279", "ensembl_id": "ENSG00000168539" } }, "GRch38": { "90": { "location": "11:62908679-62921807", "ensembl_id": "ENSG00000168539" } } }, "hgnc_date_symbol_changed": "1988-08-03" }, "entity_type": "gene", "entity_name": "CHRM1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34212451", "31981491", "12483218" ], "evidence": [ "Expert Review Red", "Expert Review", "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder", "intellectual disability", "autism", "epilepsy" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CLC2", "EJM6", "ClC-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2020", "gene_name": "chloride voltage-gated channel 2", "omim_gene": [ "600570" ], "alias_name": null, "gene_symbol": "CLCN2", "hgnc_symbol": "CLCN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:184063973-184079439", "ensembl_id": "ENSG00000114859" } }, "GRch38": { "90": { "location": "3:184346185-184361651", "ensembl_id": "ENSG00000114859" } } }, "hgnc_date_symbol_changed": "1994-01-28" }, "entity_type": "gene", "entity_name": "CLCN2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23707145", "19191339", "20037607", "19710712", "36374051" ], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "{Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628", "{Epilepsy, juvenile absence, susceptibility to, 2}, 607628", "{Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "refuted" ], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PCDH-GAMMA-C4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8717", "gene_name": "protocadherin gamma subfamily C, 4", "omim_gene": [ "606305" ], "alias_name": null, "gene_symbol": "PCDHGC4", "hgnc_symbol": "PCDHGC4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:140864741-140892546", "ensembl_id": "ENSG00000242419" } }, "GRch38": { "90": { "location": "5:141484997-141512979", "ensembl_id": "ENSG00000242419" } } }, "hgnc_date_symbol_changed": "2000-06-28" }, "entity_type": "gene", "entity_name": "PCDHGC4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34244665" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CI-24k" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7717", "gene_name": "NADH:ubiquinone oxidoreductase core subunit V2", "omim_gene": [ "600532" ], "alias_name": [ "complex I 24kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial" ], "gene_symbol": "NDUFV2", "hgnc_symbol": "NDUFV2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:9102628-9134343", "ensembl_id": "ENSG00000178127" } }, "GRch38": { "90": { "location": "18:9102630-9134345", "ensembl_id": "ENSG00000178127" } } }, "hgnc_date_symbol_changed": "1994-09-07" }, "entity_type": "gene", "entity_name": "NDUFV2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33811136", "34405929", "12754703", "26008862", "30770271", "19167255" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NST1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7680", "gene_name": "N-deacetylase and N-sulfotransferase 1", "omim_gene": [ "600853" ], "alias_name": [ "[Heparan sulfate]-glucosamine N-sulfotransferase 1", "N-Deacetylase-N-sulfotransferase 1", "heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase 1" ], "gene_symbol": "NDST1", "hgnc_symbol": "NDST1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:149865381-149937773", "ensembl_id": "ENSG00000070614" } }, "GRch38": { "90": { "location": "5:150485818-150558211", "ensembl_id": "ENSG00000070614" } } }, "hgnc_date_symbol_changed": "1995-08-10" }, "entity_type": "gene", "entity_name": "NDST1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25125150", "21937992", "32878022", "28211985" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Mental retardation, autosomal recessive 46 - MIM#616116" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Kv4.3", "KSHIVB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6239", "gene_name": "potassium voltage-gated channel subfamily D member 3", "omim_gene": [ "605411" ], "alias_name": null, "gene_symbol": "KCND3", "hgnc_symbol": "KCND3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:112313284-112531777", "ensembl_id": "ENSG00000171385" } }, "GRch38": { "90": { "location": "1:111770662-111989155", "ensembl_id": "ENSG00000171385" } } }, "hgnc_date_symbol_changed": "1992-10-05" }, "entity_type": "gene", "entity_name": "KCND3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32823520" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Spinocerebellar ataxia 19, MIM#607346" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ37478", "Hcml3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26742", "gene_name": "N-acetyltransferase 8 like", "omim_gene": [ "610647" ], "alias_name": [ "Shati" ], "gene_symbol": "NAT8L", "hgnc_symbol": "NAT8L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:2061239-2070816", "ensembl_id": "ENSG00000185818" } }, "GRch38": { "90": { "location": "4:2059512-2069089", "ensembl_id": "ENSG00000185818" } } }, "hgnc_date_symbol_changed": "2006-10-24" }, "entity_type": "gene", "entity_name": "NAT8L", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "11310630", "19807691", "32275776" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "N-acetylaspartate deficiency - MIM#614063" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CPSF-73", "CPSF73", "YSH1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2326", "gene_name": "cleavage and polyadenylation specific factor 3", "omim_gene": [ "606029" ], "alias_name": null, "gene_symbol": "CPSF3", "hgnc_symbol": "CPSF3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:9563697-9613230", "ensembl_id": "ENSG00000119203" } }, "GRch38": { "90": { "location": "2:9423568-9473101", "ensembl_id": "ENSG00000119203" } } }, "hgnc_date_symbol_changed": "2000-05-31" }, "entity_type": "gene", "entity_name": "CPSF3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35121750" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11805", "gene_name": "T-cell lymphoma invasion and metastasis 1", "omim_gene": [ "600687" ], "alias_name": null, "gene_symbol": "TIAM1", "hgnc_symbol": "TIAM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:32490734-32932290", "ensembl_id": "ENSG00000156299" } }, "GRch38": { "90": { "location": "21:31118416-31559977", "ensembl_id": "ENSG00000156299" } } }, "hgnc_date_symbol_changed": "1994-04-22" }, "entity_type": "gene", "entity_name": "TIAM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with language delay and seizures, MIM# 619908" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "a1", "Vph1", "Stv1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:865", "gene_name": "ATPase H+ transporting V0 subunit a1", "omim_gene": [ "192130" ], "alias_name": null, "gene_symbol": "ATP6V0A1", "hgnc_symbol": "ATP6V0A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:40610862-40674629", "ensembl_id": "ENSG00000033627" } }, "GRch38": { "90": { "location": "17:42458844-42522611", "ensembl_id": "ENSG00000033627" } } }, "hgnc_date_symbol_changed": "2002-05-10" }, "entity_type": "gene", "entity_name": "ATP6V0A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID:34909687" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy 104 MIM#619970", "Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CKI" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1937", "gene_name": "choline kinase alpha", "omim_gene": [ "118491" ], "alias_name": null, "gene_symbol": "CHKA", "hgnc_symbol": "CHKA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:67820326-67888911", "ensembl_id": "ENSG00000110721" } }, "GRch38": { "90": { "location": "11:68052859-68121444", "ensembl_id": "ENSG00000110721" } } }, "hgnc_date_symbol_changed": "2004-04-21" }, "entity_type": "gene", "entity_name": "CHKA", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "35202461" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "hAGO1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3262", "gene_name": "argonaute 1, RISC catalytic component", "omim_gene": [ "606228" ], "alias_name": [ "argonaute 1" ], "gene_symbol": "AGO1", "hgnc_symbol": "AGO1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:36335409-36395211", "ensembl_id": "ENSG00000092847" } }, "GRch38": { "90": { "location": "1:35869808-35930528", "ensembl_id": "ENSG00000092847" } } }, "hgnc_date_symbol_changed": "2013-02-15" }, "entity_type": "gene", "entity_name": "AGO1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35060114", "30213762", "25356899" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, MIM# 620292" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3208", "gene_name": "eukaryotic translation elongation factor 1 beta 2", "omim_gene": [ "600655" ], "alias_name": null, "gene_symbol": "EEF1B2", "hgnc_symbol": "EEF1B2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:207024309-207027652", "ensembl_id": "ENSG00000114942" } }, "GRch38": { "90": { "location": "2:206159585-206162928", "ensembl_id": "ENSG00000114942" } } }, "hgnc_date_symbol_changed": "1995-11-13" }, "entity_type": "gene", "entity_name": "EEF1B2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31845318", "21937992", "35015920" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review Green" ], "phenotypes": [ "Neurodevelopmental disorder MONDO:0700092", "non-syndromic ID and seizures" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Rb2", "p130" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9894", "gene_name": "RB transcriptional corepressor like 2", "omim_gene": [ "180203" ], "alias_name": null, "gene_symbol": "RBL2", "hgnc_symbol": "RBL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:53467889-53525561", "ensembl_id": "ENSG00000103479" } }, "GRch38": { "90": { "location": "16:53433977-53491649", "ensembl_id": "ENSG00000103479" } } }, "hgnc_date_symbol_changed": "1994-01-17" }, "entity_type": "gene", "entity_name": "RBL2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33980986", "32105419", "9806916" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Brunet-Wagner neurodevelopmental syndrome, MIM# 619690" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "hucep-6", "KIAA0272", "UCHL2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:950", "gene_name": "BRCA1 associated protein 1", "omim_gene": [ "603089" ], "alias_name": [ "ubiquitin carboxy-terminal hydrolase" ], "gene_symbol": "BAP1", "hgnc_symbol": "BAP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:52435029-52444366", "ensembl_id": "ENSG00000163930" } }, "GRch38": { "90": { "location": "3:52401013-52410350", "ensembl_id": "ENSG00000163930" } } }, "hgnc_date_symbol_changed": "1998-09-17" }, "entity_type": "gene", "entity_name": "BAP1", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "PMID: 35051358" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Kury-Isidor syndrome\t, MIM#619762" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HCDH1", "CDH1", "HCDH", "FZR", "FZR2", "KIAA1242", "CDC20C" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24824", "gene_name": "fizzy and cell division cycle 20 related 1", "omim_gene": [ "603619" ], "alias_name": [ "CDC20 homolog 1" ], "gene_symbol": "FZR1", "hgnc_symbol": "FZR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:3506271-3538328", "ensembl_id": "ENSG00000105325" } }, "GRch38": { "90": { "location": "19:3506273-3538330", "ensembl_id": "ENSG00000105325" } } }, "hgnc_date_symbol_changed": "2004-03-31" }, "entity_type": "gene", "entity_name": "FZR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34788397" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy 109, MIM# 620145" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "G17", "SN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18044", "gene_name": "solute carrier family 38 member 3", "omim_gene": [ "604437" ], "alias_name": null, "gene_symbol": "SLC38A3", "hgnc_symbol": "SLC38A3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:50242679-50258411", "ensembl_id": "ENSG00000188338" } }, "GRch38": { "90": { "location": "3:50205246-50221486", "ensembl_id": "ENSG00000188338" } } }, "hgnc_date_symbol_changed": "2002-01-22" }, "entity_type": "gene", "entity_name": "SLC38A3", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "34605855" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy 102, MIM# 619881" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "hbet1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14562", "gene_name": "Bet1 golgi vesicular membrane trafficking protein", "omim_gene": [ "605456" ], "alias_name": [ "Golgi vesicular membrane trafficking protein p18", "Bet1p homolog" ], "gene_symbol": "BET1", "hgnc_symbol": "BET1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:93592074-93633694", "ensembl_id": "ENSG00000105829" } }, "GRch38": { "90": { "location": "7:93962762-94004382", "ensembl_id": "ENSG00000105829" } } }, "hgnc_date_symbol_changed": "2001-04-05" }, "entity_type": "gene", "entity_name": "BET1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34779586" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Muscular dystrophy, congenital, with rapid progression, MIM# 254100" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NSAP1", "GRY-RBP", "dJ3J17.2", "HNRPQ1", "hnRNP-Q", "HNRNPQ" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16918", "gene_name": "synaptotagmin binding cytoplasmic RNA interacting protein", "omim_gene": [ "616686" ], "alias_name": [ "heterogeneous nuclear ribonucleoprotein Q" ], "gene_symbol": "SYNCRIP", "hgnc_symbol": "SYNCRIP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:86318053-86353510", "ensembl_id": "ENSG00000135316" } }, "GRch38": { "90": { "location": "6:85607785-85643792", "ensembl_id": "ENSG00000135316" } } }, "hgnc_date_symbol_changed": "2003-11-27" }, "entity_type": "gene", "entity_name": "SYNCRIP", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34157790", "30504930", "27479843", "23020937" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, SYNCRIP-related", "Global developmental delay", "Intellectual disability", "Autism", "Myoclonic atonic seizures", "Abnormality of nervous system morphology" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BAP-1", "BAP1", "DING", "HIPI3", "RING1B", "RING2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10061", "gene_name": "ring finger protein 2", "omim_gene": [ "608985" ], "alias_name": null, "gene_symbol": "RNF2", "hgnc_symbol": "RNF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:185014496-185071740", "ensembl_id": "ENSG00000121481" } }, "GRch38": { "90": { "location": "1:185045364-185102608", "ensembl_id": "ENSG00000121481" } } }, "hgnc_date_symbol_changed": "1997-06-09" }, "entity_type": "gene", "entity_name": "RNF2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33864376", "40831499" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Lou-Schoch-Yamamoto syndrome , MIM#619460", "epilepsy", "intellectual disability", "intrauterine growth retardation" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11275", "gene_name": "spectrin beta, non-erythrocytic 1", "omim_gene": [ "182790" ], "alias_name": [ "Fodrin beta chain", "Beta-II spectrin" ], "gene_symbol": "SPTBN1", "hgnc_symbol": "SPTBN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:54683422-54896812", "ensembl_id": "ENSG00000115306" } }, "GRch38": { "90": { "location": "2:54456285-54671445", "ensembl_id": "ENSG00000115306" } } }, "hgnc_date_symbol_changed": "1989-01-16" }, "entity_type": "gene", "entity_name": "SPTBN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 34211179 PMID: 33847457" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Developmental delay, impaired speech, and behavioural abnormalities, MIM# 619475" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "IPO3", "KPNB2B", "FLJ12155", "TRN2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19998", "gene_name": "transportin 2", "omim_gene": [ "603002" ], "alias_name": [ "importin 3", "karyopherin beta 2b" ], "gene_symbol": "TNPO2", "hgnc_symbol": "TNPO2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:12810008-12834825", "ensembl_id": "ENSG00000105576" } }, "GRch38": { "90": { "location": "19:12699194-12724011", "ensembl_id": "ENSG00000105576" } } }, "hgnc_date_symbol_changed": "2003-12-09" }, "entity_type": "gene", "entity_name": "TNPO2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "34314705" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CLC3", "ClC-3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2021", "gene_name": "chloride voltage-gated channel 3", "omim_gene": [ "600580" ], "alias_name": null, "gene_symbol": "CLCN3", "hgnc_symbol": "CLCN3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:170533784-170644824", "ensembl_id": "ENSG00000109572" } }, "GRch38": { "90": { "location": "4:169612633-169723673", "ensembl_id": "ENSG00000109572" } } }, "hgnc_date_symbol_changed": "1994-01-28" }, "entity_type": "gene", "entity_name": "CLCN3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "34186028" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512", "Neurodevelopmental disorder with seizures and brain abnormalities, MIM#\t619517" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:555", "gene_name": "adaptor related protein complex 1 gamma 1 subunit", "omim_gene": [ "603533" ], "alias_name": [ "gamma1-adaptin" ], "gene_symbol": "AP1G1", "hgnc_symbol": "AP1G1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:71762913-71843104", "ensembl_id": "ENSG00000166747" } }, "GRch38": { "90": { "location": "16:71729000-71809201", "ensembl_id": "ENSG00000166747" } } }, "hgnc_date_symbol_changed": "2000-09-01" }, "entity_type": "gene", "entity_name": "AP1G1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34102099" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Usmani-Riazuddin syndrome, autosomal dominant, MIM# 619467", "Usmani-Riazuddin syndrome, autosomal recessive, MIM# 619548", "Neurodevelopmental disorder (NDD)", "Intellectual Disability", "Epilepsy" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0561" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19036", "gene_name": "microtubule associated serine/threonine kinase 3", "omim_gene": [ "612258" ], "alias_name": null, "gene_symbol": "MAST3", "hgnc_symbol": "MAST3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:18208603-18262502", "ensembl_id": "ENSG00000099308" } }, "GRch38": { "90": { "location": "19:18097793-18151692", "ensembl_id": "ENSG00000099308" } } }, "hgnc_date_symbol_changed": "2004-02-10" }, "entity_type": "gene", "entity_name": "MAST3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34185323" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy 108, MIM#620115" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC16925", "DKFZp434D229" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16491", "gene_name": "p53-induced death domain protein 1", "omim_gene": [ "605247" ], "alias_name": null, "gene_symbol": "PIDD1", "hgnc_symbol": "PIDD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:799179-809753", "ensembl_id": "ENSG00000177595" } }, "GRch38": { "90": { "location": "11:799179-809753", "ensembl_id": "ENSG00000177595" } } }, "hgnc_date_symbol_changed": "2014-05-01" }, "entity_type": "gene", "entity_name": "PIDD1", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "28397838", "29302074", "33414379", "34163010" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MARLIN1", "JAMIP1", "Gababrbp", "FLJ31564" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26460", "gene_name": "janus kinase and microtubule interacting protein 1", "omim_gene": [ "611195" ], "alias_name": null, "gene_symbol": "JAKMIP1", "hgnc_symbol": "JAKMIP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:6027926-6202318", "ensembl_id": "ENSG00000152969" } }, "GRch38": { "90": { "location": "4:6026199-6200591", "ensembl_id": "ENSG00000152969" } } }, "hgnc_date_symbol_changed": "2006-02-23" }, "entity_type": "gene", "entity_name": "JAKMIP1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29158550", "26627310", "27799067" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder (MONDO#0700092), JAKMIP1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HCP1", "MGC9564", "PCFT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30521", "gene_name": "solute carrier family 46 member 1", "omim_gene": [ "611672" ], "alias_name": [ "heme carrier protein 1", "proton-coupled folate transporter" ], "gene_symbol": "SLC46A1", "hgnc_symbol": "SLC46A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:26721661-26734215", "ensembl_id": "ENSG00000076351" } }, "GRch38": { "90": { "location": "17:28394756-28407197", "ensembl_id": "ENSG00000076351" } } }, "hgnc_date_symbol_changed": "2007-03-29" }, "entity_type": "gene", "entity_name": "SLC46A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20301716" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Folate malabsorption, hereditary MIM# 229050", "Decreased Ig levels", "megaloblastic anaemia", "failure to thrive", "Immunodeficiency", "if untreated for prolonged periods results in intellectual disability", "oral mucositis", "hypoimmunoglobulinaemia", "recurrent infections", "seizures", "motor impairment", "leukopaenia", "thrombocytopaenia" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ38973" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26799", "gene_name": "chromosome 2 open reading frame 69", "omim_gene": null, "alias_name": [ "hypothetical protein FLJ38973" ], "gene_symbol": "C2orf69", "hgnc_symbol": "C2orf69", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:200775979-200820658", "ensembl_id": "ENSG00000178074" } }, "GRch38": { "90": { "location": "2:199911256-199955935", "ensembl_id": "ENSG00000178074" } } }, "hgnc_date_symbol_changed": "2008-07-02" }, "entity_type": "gene", "entity_name": "C2orf69", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34038740", "33945503" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1861", "FLJ20097", "DKFZp313I2429", "VPS54L" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25956", "gene_name": "VPS50, EARP/GARPII complex subunit", "omim_gene": [ "616465" ], "alias_name": [ "syndetin" ], "gene_symbol": "VPS50", "hgnc_symbol": "VPS50", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:92861653-92988338", "ensembl_id": "ENSG00000004766" } }, "GRch38": { "90": { "location": "7:93232340-93361121", "ensembl_id": "ENSG00000004766" } } }, "hgnc_date_symbol_changed": "2015-06-29" }, "entity_type": "gene", "entity_name": "VPS50", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "34037727", "38876772" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685", "Neonatal cholestatic liver disease", "Failure to thrive", "Profound global developmental delay", "Postnatal microcephaly", "Seizures", "Abnormality of the corpus callosum" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:654", "gene_name": "ADP ribosylation factor 3", "omim_gene": [ "103190" ], "alias_name": [ "small GTP binding protein" ], "gene_symbol": "ARF3", "hgnc_symbol": "ARF3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:49329506-49351334", "ensembl_id": "ENSG00000134287" } }, "GRch38": { "90": { "location": "12:48935723-48957551", "ensembl_id": "ENSG00000134287" } } }, "hgnc_date_symbol_changed": "1992-07-09" }, "entity_type": "gene", "entity_name": "ARF3", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "34346499", "36369169" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder (MONDO:0700092), ARF3-related", "Global developmental delay", "Intellectual disability", "Seizures", "Morphological abnormality of the central nervous system" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Kv4.2", "RK5", "KIAA1044" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6238", "gene_name": "potassium voltage-gated channel subfamily D member 2", "omim_gene": [ "605410" ], "alias_name": null, "gene_symbol": "KCND2", "hgnc_symbol": "KCND2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:119913722-120390385", "ensembl_id": "ENSG00000184408" } }, "GRch38": { "90": { "location": "7:120273668-120750331", "ensembl_id": "ENSG00000184408" } } }, "hgnc_date_symbol_changed": "1992-10-05" }, "entity_type": "gene", "entity_name": "KCND2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24501278", "16934482", "29581270", "34245260" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder MONDO:0700092, KCND2-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PML1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30587", "gene_name": "Smad nuclear interacting protein 1", "omim_gene": [ "608241" ], "alias_name": [ "PML1 homolog (yeast)" ], "gene_symbol": "SNIP1", "hgnc_symbol": "SNIP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:38000050-38019903", "ensembl_id": "ENSG00000163877" } }, "GRch38": { "90": { "location": "1:37534449-37554344", "ensembl_id": "ENSG00000163877" } } }, "hgnc_date_symbol_changed": "2005-06-06" }, "entity_type": "gene", "entity_name": "SNIP1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22279524", "34570759" ], "evidence": [ "Expert Review Amber", "Expert Review" ], "phenotypes": [ "Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9077", "gene_name": "polo like kinase 1", "omim_gene": [ "602098" ], "alias_name": null, "gene_symbol": "PLK1", "hgnc_symbol": "PLK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:23688977-23701688", "ensembl_id": "ENSG00000166851" } }, "GRch38": { "90": { "location": "16:23677656-23690367", "ensembl_id": "ENSG00000166851" } } }, "hgnc_date_symbol_changed": "2004-01-28" }, "entity_type": "gene", "entity_name": "PLK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33875846" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, PLK1-related, MONDO:0700092" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ10851" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25590", "gene_name": "oxoglutarate dehydrogenase like", "omim_gene": [ "617513" ], "alias_name": null, "gene_symbol": "OGDHL", "hgnc_symbol": "OGDHL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:50942689-50970425", "ensembl_id": "ENSG00000197444" } }, "GRch38": { "90": { "location": "10:49734643-49762379", "ensembl_id": "ENSG00000197444" } } }, "hgnc_date_symbol_changed": "2004-05-27" }, "entity_type": "gene", "entity_name": "OGDHL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34800363" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Yoon-Bellen neurodevelopmental syndrome, MIM# 619701", "Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:652", "gene_name": "ADP ribosylation factor 1", "omim_gene": [ "103180" ], "alias_name": null, "gene_symbol": "ARF1", "hgnc_symbol": "ARF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:228270361-228286912", "ensembl_id": "ENSG00000143761" } }, "GRch38": { "90": { "location": "1:228082660-228099212", "ensembl_id": "ENSG00000143761" } } }, "hgnc_date_symbol_changed": "1992-07-09" }, "entity_type": "gene", "entity_name": "ARF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28868155", "34353862" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Periventricular nodular heterotopia 8, MIM# 618185" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "VGAT", "bA122O1.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11018", "gene_name": "solute carrier family 32 member 1", "omim_gene": [ "616440" ], "alias_name": null, "gene_symbol": "SLC32A1", "hgnc_symbol": "SLC32A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:37353105-37358015", "ensembl_id": "ENSG00000101438" } }, "GRch38": { "90": { "location": "20:38724462-38729372", "ensembl_id": "ENSG00000101438" } } }, "hgnc_date_symbol_changed": "1999-08-20" }, "entity_type": "gene", "entity_name": "SLC32A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34038384", "36073542" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755", "Developmental and epileptic encephalopathy 114, MIM# 620774" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GluK2", "MRT6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4580", "gene_name": "glutamate ionotropic receptor kainate type subunit 2", "omim_gene": [ "138244" ], "alias_name": null, "gene_symbol": "GRIK2", "hgnc_symbol": "GRIK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:101846664-102517958", "ensembl_id": "ENSG00000164418" } }, "GRch38": { "90": { "location": "6:101398788-102070083", "ensembl_id": "ENSG00000164418" } } }, "hgnc_date_symbol_changed": "1992-02-26" }, "entity_type": "gene", "entity_name": "GRIK2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34375587", "17847003", "25039795" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Intellectual developmental disorder, autosomal recessive 6 MIM#611092", "Neurodevelopmental disorder with impaired language and ataxia and with or without seizures MIM#619580" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Cav3.3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1396", "gene_name": "calcium voltage-gated channel subunit alpha1 I", "omim_gene": [ "608230" ], "alias_name": null, "gene_symbol": "CACNA1I", "hgnc_symbol": "CACNA1I", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:39966758-40085742", "ensembl_id": "ENSG00000100346" } }, "GRch38": { "90": { "location": "22:39570753-39689737", "ensembl_id": "ENSG00000100346" } } }, "hgnc_date_symbol_changed": "1999-01-08" }, "entity_type": "gene", "entity_name": "CACNA1I", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "33704440" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with variable intellectual disability and speech impairment, with or without seizures (NEDISS), MIM#620114" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZp686D143" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20340", "gene_name": "prickle planar cell polarity protein 2", "omim_gene": [ "608501" ], "alias_name": null, "gene_symbol": "PRICKLE2", "hgnc_symbol": "PRICKLE2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:64079543-64431152", "ensembl_id": "ENSG00000163637" } }, "GRch38": { "90": { "location": "3:64092242-64445476", "ensembl_id": "ENSG00000163637" } } }, "hgnc_date_symbol_changed": "2003-02-10" }, "entity_type": "gene", "entity_name": "PRICKLE2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34092786", "21276947", "26942291", "26942292" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:16882", "gene_name": "hyperpolarization activated cyclic nucleotide gated potassium channel 4", "omim_gene": [ "605206" ], "alias_name": null, "gene_symbol": "HCN4", "hgnc_symbol": "HCN4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:73612200-73661605", "ensembl_id": "ENSG00000138622" } }, "GRch38": { "90": { "location": "15:73319859-73369264", "ensembl_id": "ENSG00000138622" } } }, "hgnc_date_symbol_changed": "2002-09-02" }, "entity_type": "gene", "entity_name": "HCN4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30127718", "29588962" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "{Epilepsy, idiopathic generalized, susceptibility to, 18}, MIM#\t619521" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0929", "MINT", "SHARP", "RBM15C" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17575", "gene_name": "spen family transcriptional repressor", "omim_gene": [ "613484" ], "alias_name": null, "gene_symbol": "SPEN", "hgnc_symbol": "SPEN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:16174359-16266955", "ensembl_id": "ENSG00000065526" } }, "GRch38": { "90": { "location": "1:15847864-15940460", "ensembl_id": "ENSG00000065526" } } }, "hgnc_date_symbol_changed": "2004-12-13" }, "entity_type": "gene", "entity_name": "SPEN", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33596411" ], "evidence": [ "Expert Review Amber", "Literature", "Expert Review Green", "Literature" ], "phenotypes": [ "Radio-Tartaglia syndrome MIM#619312" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:10485", "gene_name": "ryanodine receptor 3", "omim_gene": [ "180903" ], "alias_name": null, "gene_symbol": "RYR3", "hgnc_symbol": "RYR3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:33603163-34158303", "ensembl_id": "ENSG00000198838" } }, "GRch38": { "90": { "location": "15:33310945-33866121", "ensembl_id": "ENSG00000198838" } } }, "hgnc_date_symbol_changed": "1993-05-12" }, "entity_type": "gene", "entity_name": "RYR3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25262651", "39840699", "39220738", "29667327", "29498452", "32451403", "31230720" ], "evidence": [ "Expert Review Amber", "ClinGen", "Expert list" ], "phenotypes": [ "Developmental and epileptic encephalopathy MONDO:0100062, RYR3-related" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] } ] }