Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=139
{ "count": 35557, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=140", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=138", "results": [ { "gene_data": { "alias": [ "FLJ10392", "APE", "GIV", "HkRP1", "GRDN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25523", "gene_name": "coiled-coil domain containing 88A", "omim_gene": [ "609736" ], "alias_name": [ "Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments" ], "gene_symbol": "CCDC88A", "hgnc_symbol": "CCDC88A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:55514978-55647057", "ensembl_id": "ENSG00000115355" } }, "GRch38": { "90": { "location": "2:55287842-55419921", "ensembl_id": "ENSG00000115355" } } }, "hgnc_date_symbol_changed": "2007-05-31" }, "entity_type": "gene", "entity_name": "CCDC88A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26917597", "30392057" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "PEHO syndrome-like, 617507" ], "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": [ "EIEE2", "CFAP247" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11411", "gene_name": "cyclin dependent kinase like 5", "omim_gene": [ "300203" ], "alias_name": null, "gene_symbol": "CDKL5", "hgnc_symbol": "CDKL5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:18443703-18671749", "ensembl_id": "ENSG00000008086" } }, "GRch38": { "90": { "location": "X:18425583-18653629", "ensembl_id": "ENSG00000008086" } } }, "hgnc_date_symbol_changed": "2002-11-29" }, "entity_type": "gene", "entity_name": "CDKL5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19793311" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Developmental and epileptic encephalopathy 2, MIM# 300672" ], "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": [ "FLJ38614", "DKFZp547I1315", "DKFZp781D1727", "DKFZp686E01200" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1917", "gene_name": "chromodomain helicase DNA binding protein 2", "omim_gene": [ "602119" ], "alias_name": null, "gene_symbol": "CHD2", "hgnc_symbol": "CHD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:93426526-93571237", "ensembl_id": "ENSG00000173575" } }, "GRch38": { "90": { "location": "15:92900189-93028005", "ensembl_id": "ENSG00000173575" } } }, "hgnc_date_symbol_changed": "1998-03-20" }, "entity_type": "gene", "entity_name": "CHD2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Epileptic encephalopathy, childhood-onset (MIM # 615369)" ], "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": [ "Mi-2b", "Mi2-BETA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1919", "gene_name": "chromodomain helicase DNA binding protein 4", "omim_gene": [ "603277" ], "alias_name": null, "gene_symbol": "CHD4", "hgnc_symbol": "CHD4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:6679249-6716642", "ensembl_id": "ENSG00000111642" } }, "GRch38": { "90": { "location": "12:6570083-6607476", "ensembl_id": "ENSG00000111642" } } }, "hgnc_date_symbol_changed": "1998-03-20" }, "entity_type": "gene", "entity_name": "CHD4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27479907", "27616479", "34109749" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Sifrim-Hitz-Weiss syndrome, MIM# 617159", "Childhood idiopathic epilepsy and sinus arrhythmia" ], "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:1956", "gene_name": "cholinergic receptor nicotinic alpha 2 subunit", "omim_gene": [ "118502" ], "alias_name": [ "acetylcholine receptor, nicotinic, alpha 2 (neuronal)" ], "gene_symbol": "CHRNA2", "hgnc_symbol": "CHRNA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:27317279-27337400", "ensembl_id": "ENSG00000120903" } }, "GRch38": { "90": { "location": "8:27459761-27479883", "ensembl_id": "ENSG00000120903" } } }, "hgnc_date_symbol_changed": "1990-05-11" }, "entity_type": "gene", "entity_name": "CHRNA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16826524", "25770198", "30809122", "25847220" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Epilepsy, nocturnal frontal lobe, type 4 MIM#610353" ], "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": [ "BFNC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1958", "gene_name": "cholinergic receptor nicotinic alpha 4 subunit", "omim_gene": [ "118504" ], "alias_name": [ "acetylcholine receptor, nicotinic, alpha 4 (neuronal)" ], "gene_symbol": "CHRNA4", "hgnc_symbol": "CHRNA4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:61975420-62009753", "ensembl_id": "ENSG00000101204" } }, "GRch38": { "90": { "location": "20:63343223-63378401", "ensembl_id": "ENSG00000101204" } } }, "hgnc_date_symbol_changed": "1990-05-11" }, "entity_type": "gene", "entity_name": "CHRNA4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "14623738", "23114665" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epilepsy, nocturnal frontal lobe, 1, MIM# 600513" ], "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:1962", "gene_name": "cholinergic receptor nicotinic beta 2 subunit", "omim_gene": [ "118507" ], "alias_name": [ "acetylcholine receptor, nicotinic, beta 2 (neuronal)" ], "gene_symbol": "CHRNB2", "hgnc_symbol": "CHRNB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:154540257-154552502", "ensembl_id": "ENSG00000160716" } }, "GRch38": { "90": { "location": "1:154567781-154580026", "ensembl_id": "ENSG00000160716" } } }, "hgnc_date_symbol_changed": "1990-05-11" }, "entity_type": "gene", "entity_name": "CHRNB2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11062464", "11104662", "19153075", "32536355", "25770198", "23032131" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Epilepsy, nocturnal frontal lobe, 3, MIM# 605375" ], "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": [ "KIAA0306" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14214", "gene_name": "capicua transcriptional repressor", "omim_gene": [ "612082" ], "alias_name": null, "gene_symbol": "CIC", "hgnc_symbol": "CIC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:42772689-42799949", "ensembl_id": "ENSG00000079432" } }, "GRch38": { "90": { "location": "19:42268537-42295797", "ensembl_id": "ENSG00000079432" } } }, "hgnc_date_symbol_changed": "2001-02-05" }, "entity_type": "gene", "entity_name": "CIC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28288114" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Mental retardation, autosomal dominant 45, MIM# 617600" ], "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": [ "CLC4", "ClC-4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2022", "gene_name": "chloride voltage-gated channel 4", "omim_gene": [ "302910" ], "alias_name": null, "gene_symbol": "CLCN4", "hgnc_symbol": "CLCN4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:10125024-10205700", "ensembl_id": "ENSG00000073464" } }, "GRch38": { "90": { "location": "X:10156945-10237660", "ensembl_id": "ENSG00000073464" } } }, "hgnc_date_symbol_changed": "1994-01-28" }, "entity_type": "gene", "entity_name": "CLCN4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27550844" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Raynaud-Claes syndrome, MIM#300114", "intellectual disability", "epilepsy", "autistic features", "mood disorders", "cerebral white matter changes", "progressive appendicular spasticity" ], "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": [ "JNCL", "BTN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2074", "gene_name": "CLN3, battenin", "omim_gene": [ "607042" ], "alias_name": [ "juvenile neuronal ceroid lipofuscinosis" ], "gene_symbol": "CLN3", "hgnc_symbol": "CLN3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:28477983-28506896", "ensembl_id": "ENSG00000188603" } }, "GRch38": { "90": { "location": "16:28474111-28495575", "ensembl_id": "ENSG00000188603" } } }, "hgnc_date_symbol_changed": "1989-06-06" }, "entity_type": "gene", "entity_name": "CLN3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "7553855" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ceroid lipofuscinosis, neuronal, 3, MIM# 204200", "MONDO:0008767" ], "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": [ "FLJ39417" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2079", "gene_name": "CLN8, transmembrane ER and ERGIC protein", "omim_gene": [ "607837" ], "alias_name": null, "gene_symbol": "CLN8", "hgnc_symbol": "CLN8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:1703944-1734738", "ensembl_id": "ENSG00000182372" } }, "GRch38": { "90": { "location": "8:1755778-1801711", "ensembl_id": "ENSG00000182372" } } }, "hgnc_date_symbol_changed": "1993-12-15" }, "entity_type": "gene", "entity_name": "CLN8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10508524", "15024724", "16570191" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Ceroid lipofuscinosis, neuronal, 8, MIM# 600143", "Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003" ], "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": [ "Hc" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2092", "gene_name": "clathrin heavy chain", "omim_gene": [ "118955" ], "alias_name": null, "gene_symbol": "CLTC", "hgnc_symbol": "CLTC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:57697219-57773671", "ensembl_id": "ENSG00000141367" } }, "GRch38": { "90": { "location": "17:59619689-59696956", "ensembl_id": "ENSG00000141367" } } }, "hgnc_date_symbol_changed": "1990-10-16" }, "entity_type": "gene", "entity_name": "CLTC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29100083", "26822784" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Mental retardation, autosomal dominant 56, MIM# 617854" ], "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": [ "KIAA0902", "CNK2", "KSR2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19701", "gene_name": "connector enhancer of kinase suppressor of Ras 2", "omim_gene": [ "300724" ], "alias_name": null, "gene_symbol": "CNKSR2", "hgnc_symbol": "CNKSR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:21392536-21672813", "ensembl_id": "ENSG00000149970" } }, "GRch38": { "90": { "location": "X:21374418-21654695", "ensembl_id": "ENSG00000149970" } } }, "hgnc_date_symbol_changed": "2004-05-27" }, "entity_type": "gene", "entity_name": "CNKSR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "34266427" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:103", "gene_name": "cyclin and CBS domain divalent metal cation transport mediator 2", "omim_gene": [ "607803" ], "alias_name": null, "gene_symbol": "CNNM2", "hgnc_symbol": "CNNM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:104678050-104849978", "ensembl_id": "ENSG00000148842" } }, "GRch38": { "90": { "location": "10:102918293-103090221", "ensembl_id": "ENSG00000148842" } } }, "hgnc_date_symbol_changed": "1999-12-07" }, "entity_type": "gene", "entity_name": "CNNM2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "34604137", "35170241" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Hypomagnesemia 6, renal MIM#613882", "Hypomagnesemia, seizures, and mental retardation MIM#616418" ], "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": null }, { "gene_data": { "alias": [ "CAG4A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11968", "gene_name": "canopy FGF signaling regulator 3", "omim_gene": [ "610774" ], "alias_name": null, "gene_symbol": "CNPY3", "hgnc_symbol": "CNPY3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:42896938-42907025", "ensembl_id": "ENSG00000137161" } }, "GRch38": { "90": { "location": "6:42929192-42939287", "ensembl_id": "ENSG00000137161" } } }, "hgnc_date_symbol_changed": "2007-10-22" }, "entity_type": "gene", "entity_name": "CNPY3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29394991", "30237576" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 60 (MIM 617929)" ], "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": [ "Caspr2", "KIAA0868", "NRXN4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13830", "gene_name": "contactin associated protein like 2", "omim_gene": [ "604569" ], "alias_name": null, "gene_symbol": "CNTNAP2", "hgnc_symbol": "CNTNAP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:145813453-148118090", "ensembl_id": "ENSG00000174469" } }, "GRch38": { "90": { "location": "7:146116002-148420998", "ensembl_id": "ENSG00000174469" } } }, "hgnc_date_symbol_changed": "2001-06-01" }, "entity_type": "gene", "entity_name": "CNTNAP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16571880", "19896112", "27439707" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cortical dysplasia-focal epilepsy syndrome, MIM# 610042" ], "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": [ "COD1", "DKFZP586E1519" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18620", "gene_name": "component of oligomeric golgi complex 4", "omim_gene": [ "606976" ], "alias_name": null, "gene_symbol": "COG4", "hgnc_symbol": "COG4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:70514471-70557468", "ensembl_id": "ENSG00000103051" } }, "GRch38": { "90": { "location": "16:70480568-70523565", "ensembl_id": "ENSG00000103051" } } }, "hgnc_date_symbol_changed": "2002-05-09" }, "entity_type": "gene", "entity_name": "COG4", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Congenital disorder of glycosylation, type IIj, MIM#613489" ], "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": [ "COD2", "KIAA1134" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18621", "gene_name": "component of oligomeric golgi complex 6", "omim_gene": [ "606977" ], "alias_name": null, "gene_symbol": "COG6", "hgnc_symbol": "COG6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:40229764-40365802", "ensembl_id": "ENSG00000133103" } }, "GRch38": { "90": { "location": "13:39655627-39791665", "ensembl_id": "ENSG00000133103" } } }, "hgnc_date_symbol_changed": "2002-05-09" }, "entity_type": "gene", "entity_name": "COG6", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Coenzyme Q10 deficiency, primary, 6, MIM#614650" ], "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:18622", "gene_name": "component of oligomeric golgi complex 7", "omim_gene": [ "606978" ], "alias_name": null, "gene_symbol": "COG7", "hgnc_symbol": "COG7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:23399814-23464501", "ensembl_id": "ENSG00000168434" } }, "GRch38": { "90": { "location": "16:23388493-23453180", "ensembl_id": "ENSG00000168434" } } }, "hgnc_date_symbol_changed": "2002-05-09" }, "entity_type": "gene", "entity_name": "COG7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15107842", "17356545", "28883096" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Congenital disorder of glycosylation, type IIe , MIM#608779" ], "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": [ "FLJ22315", "DOR1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18623", "gene_name": "component of oligomeric golgi complex 8", "omim_gene": [ "606979" ], "alias_name": null, "gene_symbol": "COG8", "hgnc_symbol": "COG8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:69354043-69373570", "ensembl_id": "ENSG00000213380" } }, "GRch38": { "90": { "location": "16:69320140-69339583", "ensembl_id": "ENSG00000213380" } } }, "hgnc_date_symbol_changed": "2002-05-09" }, "entity_type": "gene", "entity_name": "COG8", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28619360", "17220172", "17331980" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Congenital disorder of glycosylation, type IIh, 611182" ], "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": [ "KS", "KNO1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2195", "gene_name": "collagen type XVIII alpha 1 chain", "omim_gene": [ "120328" ], "alias_name": [ "endostatin" ], "gene_symbol": "COL18A1", "hgnc_symbol": "COL18A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:46825052-46933634", "ensembl_id": "ENSG00000182871" } }, "GRch38": { "90": { "location": "21:45405137-45513720", "ensembl_id": "ENSG00000182871" } } }, "hgnc_date_symbol_changed": "1993-05-25" }, "entity_type": "gene", "entity_name": "COL18A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27259167", "25456301" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Knobloch syndrome, type 1, MIM# 267750" ], "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:2202", "gene_name": "collagen type IV alpha 1 chain", "omim_gene": [ "120130" ], "alias_name": null, "gene_symbol": "COL4A1", "hgnc_symbol": "COL4A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:110801318-110959496", "ensembl_id": "ENSG00000187498" } }, "GRch38": { "90": { "location": "13:110148963-110307149", "ensembl_id": "ENSG00000187498" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "COL4A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24628545", "25719457", "21625620", "23225343", "23065703", "20818663", "20301768" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773", "Brain small vessel disease with or without ocular anomalies MIM#175780", "Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564" ], "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": [ "FLJ22259", "DKFZp686I14213" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2203", "gene_name": "collagen type IV alpha 2 chain", "omim_gene": [ "120090" ], "alias_name": [ "canstatin", "collagen type IV alpha 2" ], "gene_symbol": "COL4A2", "hgnc_symbol": "COL4A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:110958159-111165374", "ensembl_id": "ENSG00000134871" } }, "GRch38": { "90": { "location": "13:110305812-110513027", "ensembl_id": "ENSG00000134871" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "COL4A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33528536", "33912663", "22209246", "30315939", "22333902" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Cerebral Palsy MONDO#0006497, COL4A2-related", "Brain small vessel disease 2 MIM# 614483" ], "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": [ "CL640", "FLJ26072" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25223", "gene_name": "coenzyme Q2, polyprenyltransferase", "omim_gene": [ "609825" ], "alias_name": [ "4-hydroxybenzoate polyprenyltransferase" ], "gene_symbol": "COQ2", "hgnc_symbol": "COQ2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:84182689-84206067", "ensembl_id": "ENSG00000173085" } }, "GRch38": { "90": { "location": "4:83261536-83284914", "ensembl_id": "ENSG00000173085" } } }, "hgnc_date_symbol_changed": "2005-07-05" }, "entity_type": "gene", "entity_name": "COQ2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16400613", "17332895", "17855635" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Coenzyme Q10 deficiency, primary, 1, MIM# 607426", "MONDO:0011829" ], "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": [ "CGI-92" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19693", "gene_name": "coenzyme Q4", "omim_gene": [ "612898" ], "alias_name": null, "gene_symbol": "COQ4", "hgnc_symbol": "COQ4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:131084815-131096351", "ensembl_id": "ENSG00000167113" } }, "GRch38": { "90": { "location": "9:128322536-128334072", "ensembl_id": "ENSG00000167113" } } }, "hgnc_date_symbol_changed": "2003-01-10" }, "entity_type": "gene", "entity_name": "COQ4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25658047", "26185144", "33704555" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Coenzyme Q10 deficiency, primary, 7, MIM# 616276" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "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": [ "CGI-10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20233", "gene_name": "coenzyme Q6, monooxygenase", "omim_gene": [ "614647" ], "alias_name": null, "gene_symbol": "COQ6", "hgnc_symbol": "COQ6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:74416629-74430373", "ensembl_id": "ENSG00000119723" } }, "GRch38": { "90": { "location": "14:73949926-73963670", "ensembl_id": "ENSG00000119723" } } }, "hgnc_date_symbol_changed": "2003-01-10" }, "entity_type": "gene", "entity_name": "COQ6", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21540551" ], "evidence": [ "Expert Review Green", "Expert Review Amber", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Coenzyme Q10 deficiency, primary, 6, MIM#614650" ], "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": [ "DKFZP434K046" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25302", "gene_name": "coenzyme Q9", "omim_gene": [ "612837" ], "alias_name": null, "gene_symbol": "COQ9", "hgnc_symbol": "COQ9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:57481337-57495187", "ensembl_id": "ENSG00000088682" } }, "GRch38": { "90": { "location": "16:57447425-57461275", "ensembl_id": "ENSG00000088682" } } }, "hgnc_date_symbol_changed": "2006-01-13" }, "entity_type": "gene", "entity_name": "COQ9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19375058", "26081641", "23255162", "31821167" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Coenzyme Q10 deficiency, primary, 5, MIM#614654" ], "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:2260", "gene_name": "COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor", "omim_gene": [ "602125" ], "alias_name": [ "protoheme IX farnesyltransferase, mitochondrial", "heme O synthase" ], "gene_symbol": "COX10", "hgnc_symbol": "COX10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:13972813-14111994", "ensembl_id": "ENSG00000006695" } }, "GRch38": { "90": { "location": "17:14069496-14208677", "ensembl_id": "ENSG00000006695" } } }, "hgnc_date_symbol_changed": "1996-10-31" }, "entity_type": "gene", "entity_name": "COX10", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10767350" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Mitochondrial complex IV deficiency, MIM#220110" ], "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": [ "CEMCOX2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2263", "gene_name": "COX15, cytochrome c oxidase assembly homolog", "omim_gene": [ "603646" ], "alias_name": null, "gene_symbol": "COX15", "hgnc_symbol": "COX15", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:101471601-101491857", "ensembl_id": "ENSG00000014919" } }, "GRch38": { "90": { "location": "10:99711844-99732100", "ensembl_id": "ENSG00000014919" } } }, "hgnc_date_symbol_changed": "1998-07-03" }, "entity_type": "gene", "entity_name": "COX15", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21412973", "12474143", "15863660", "15235026" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2", "MIM#615119 and Leigh syndrome #256000" ], "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": [ "CPAH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17245", "gene_name": "carboxypeptidase A6", "omim_gene": [ "609562" ], "alias_name": null, "gene_symbol": "CPA6", "hgnc_symbol": "CPA6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:68334360-68658620", "ensembl_id": "ENSG00000165078" } }, "GRch38": { "90": { "location": "8:67422038-67746385", "ensembl_id": "ENSG00000165078" } } }, "hgnc_date_symbol_changed": "2002-05-29" }, "entity_type": "gene", "entity_name": "CPA6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25875328", "21922598", "23105115" ], "evidence": [ "ClinGen", "Expert Review Red" ], "phenotypes": [ "Epilepsy, familial temporal lobe, 5, MIM#614417", "Febrile seizures, familial, 11, MIM#614418" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [ "refuted", "disputed" ], "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": [ "Ckb1", "Ckb2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2460", "gene_name": "casein kinase 2 beta", "omim_gene": [ "115441" ], "alias_name": null, "gene_symbol": "CSNK2B", "hgnc_symbol": "CSNK2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:31633013-31638120", "ensembl_id": "ENSG00000204435" } }, "GRch38": { "90": { "location": "6:31665236-31670343", "ensembl_id": "ENSG00000204435" } } }, "hgnc_date_symbol_changed": "1990-05-23" }, "entity_type": "gene", "entity_name": "CSNK2B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "34041744", "28585349", "28762608" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732" ], "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": [ "CST6", "PME" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2482", "gene_name": "cystatin B", "omim_gene": [ "601145" ], "alias_name": [ "stefin B" ], "gene_symbol": "CSTB", "hgnc_symbol": "CSTB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:45192393-45196326", "ensembl_id": "ENSG00000160213" } }, "GRch38": { "90": { "location": "21:43772511-43776445", "ensembl_id": "ENSG00000160213" } } }, "hgnc_date_symbol_changed": "1996-12-12" }, "entity_type": "gene", "entity_name": "CSTB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32920378", "18028412" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM# 254800" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "5'UTR", "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": null }, { "gene_data": { "alias": [ "CLN10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2529", "gene_name": "cathepsin D", "omim_gene": [ "116840" ], "alias_name": [ "ceroid-lipofuscinosis, neuronal 10" ], "gene_symbol": "CTSD", "hgnc_symbol": "CTSD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:1773982-1785222", "ensembl_id": "ENSG00000117984" } }, "GRch38": { "90": { "location": "11:1752752-1764573", "ensembl_id": "ENSG00000117984" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "CTSD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16685649", "16670177", "25298308", "33681191", "29284168", "27072142" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ceroid lipofuscinosis, neuronal, 10, MIM# 610127", "MONDO:0012414" ], "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": [ "KIAA0293", "CDP2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19347", "gene_name": "cut like homeobox 2", "omim_gene": [ "610648" ], "alias_name": null, "gene_symbol": "CUX2", "hgnc_symbol": "CUX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:111471828-111788358", "ensembl_id": "ENSG00000111249" } }, "GRch38": { "90": { "location": "12:111034024-111350554", "ensembl_id": "ENSG00000111249" } } }, "hgnc_date_symbol_changed": "2007-11-07" }, "entity_type": "gene", "entity_name": "CUX2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "2963073", "29795476" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 67, MIM#618141" ], "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": [ "PIR121" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13760", "gene_name": "cytoplasmic FMR1 interacting protein 2", "omim_gene": [ "606323" ], "alias_name": [ "p53 inducible protein" ], "gene_symbol": "CYFIP2", "hgnc_symbol": "CYFIP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:156693089-156822606", "ensembl_id": "ENSG00000055163" } }, "GRch38": { "90": { "location": "5:157266079-157395595", "ensembl_id": "ENSG00000055163" } } }, "hgnc_date_symbol_changed": "2002-05-23" }, "entity_type": "gene", "entity_name": "CYFIP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29534297" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 65, MIM#618008" ], "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": [ "MGC25181", "D2HGD", "FLJ42195" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28358", "gene_name": "D-2-hydroxyglutarate dehydrogenase", "omim_gene": [ "609186" ], "alias_name": null, "gene_symbol": "D2HGDH", "hgnc_symbol": "D2HGDH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:242673994-242708231", "ensembl_id": "ENSG00000180902" } }, "GRch38": { "90": { "location": "2:241734579-241768816", "ensembl_id": "ENSG00000180902" } } }, "hgnc_date_symbol_changed": "2006-03-09" }, "entity_type": "gene", "entity_name": "D2HGDH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25778941", "31349060", "15609246", "20020533" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "D-2-hydroxyglutaric aciduria MIM#600721" ], "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:2698", "gene_name": "dihydrolipoamide branched chain transacylase E2", "omim_gene": [ "248610" ], "alias_name": [ "dihydrolipoyllysine-residue (2-methylpropanoyl)transferase", "lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial" ], "gene_symbol": "DBT", "hgnc_symbol": "DBT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:100652475-100715390", "ensembl_id": "ENSG00000137992" } }, "GRch38": { "90": { "location": "1:100186919-100249834", "ensembl_id": "ENSG00000137992" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "DBT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Maple syrup urine disease, type II (MIM#248600)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "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": [ "SCLH", "DC", "LISX", "DBCN", "XLIS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2714", "gene_name": "doublecortin", "omim_gene": [ "300121" ], "alias_name": [ "doublecortex" ], "gene_symbol": "DCX", "hgnc_symbol": "DCX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:110537007-110655603", "ensembl_id": "ENSG00000077279" } }, "GRch38": { "90": { "location": "X:111293779-111412429", "ensembl_id": "ENSG00000077279" } } }, "hgnc_date_symbol_changed": "1998-03-24" }, "entity_type": "gene", "entity_name": "DCX", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10915612", "9489699", "12552055" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Lissencephaly, X-linked, MIM# 300067", "Subcortical laminal heterotopia, X-linked 300067" ], "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": [ "DBX", "HLP2", "DDX14" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2745", "gene_name": "DEAD-box helicase 3, X-linked", "omim_gene": [ "300160" ], "alias_name": null, "gene_symbol": "DDX3X", "hgnc_symbol": "DDX3X", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:41192651-41223725", "ensembl_id": "ENSG00000215301" } }, "GRch38": { "90": { "location": "X:41333348-41364472", "ensembl_id": "ENSG00000215301" } } }, "hgnc_date_symbol_changed": "2003-06-20" }, "entity_type": "gene", "entity_name": "DDX3X", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30266093", "26235985", "25533962", "33528536", "30936465", "31274575", "30817323" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958" ], "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": [ "KIAA1091", "FLJ22354", "FLJ33829", "FLJ43455" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19344", "gene_name": "DENN domain containing 5A", "omim_gene": [ "617278" ], "alias_name": null, "gene_symbol": "DENND5A", "hgnc_symbol": "DENND5A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:9160372-9286937", "ensembl_id": "ENSG00000184014" } }, "GRch38": { "90": { "location": "11:9138825-9265390", "ensembl_id": "ENSG00000184014" } } }, "hgnc_date_symbol_changed": "2008-08-14" }, "entity_type": "gene", "entity_name": "DENND5A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27431290", "27866705", "32705489" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 49, MIM# 617281" ], "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": [ "KIAA0645", "DEP.5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18423", "gene_name": "DEP domain containing 5", "omim_gene": [ "614191" ], "alias_name": null, "gene_symbol": "DEPDC5", "hgnc_symbol": "DEPDC5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:32149944-32303012", "ensembl_id": "ENSG00000100150" } }, "GRch38": { "90": { "location": "22:31753951-31907034", "ensembl_id": "ENSG00000100150" } } }, "hgnc_date_symbol_changed": "2004-05-05" }, "entity_type": "gene", "entity_name": "DEPDC5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31444548", "23542697", "23542701" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Epilepsy, familial focal, with variable foci 1 MIM#604364", "Developmental and epileptic encephalopathy 111, MIM#\t620504" ], "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": [ "KIAA0018", "seladin-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2859", "gene_name": "24-dehydrocholesterol reductase", "omim_gene": [ "606418" ], "alias_name": null, "gene_symbol": "DHCR24", "hgnc_symbol": "DHCR24", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:55315306-55352891", "ensembl_id": "ENSG00000116133" } }, "GRch38": { "90": { "location": "1:54849633-54887218", "ensembl_id": "ENSG00000116133" } } }, "hgnc_date_symbol_changed": "1998-04-27" }, "entity_type": "gene", "entity_name": "DHCR24", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936" ], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "Desmosterolosis, MONDO:0011217" ], "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": [ "KIAA0890", "FLJ11214" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16716", "gene_name": "DExH-box helicase 30", "omim_gene": [ "616423" ], "alias_name": null, "gene_symbol": "DHX30", "hgnc_symbol": "DHX30", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:47844399-47891685", "ensembl_id": "ENSG00000132153" } }, "GRch38": { "90": { "location": "3:47802909-47850195", "ensembl_id": "ENSG00000132153" } } }, "hgnc_date_symbol_changed": "2003-06-13" }, "entity_type": "gene", "entity_name": "DHX30", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29100085" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804" ], "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": [ "hDIA1", "LFHL1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2876", "gene_name": "diaphanous related formin 1", "omim_gene": [ "602121" ], "alias_name": null, "gene_symbol": "DIAPH1", "hgnc_symbol": "DIAPH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:140894583-140998622", "ensembl_id": "ENSG00000131504" } }, "GRch38": { "90": { "location": "5:141515016-141619055", "ensembl_id": "ENSG00000131504" } } }, "hgnc_date_symbol_changed": "1998-03-17" }, "entity_type": "gene", "entity_name": "DIAPH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24781755, 26463574, 33662367, 36212620, 39076976, 39120629" ], "evidence": [ "Literature", "Expert Review Green" ], "phenotypes": [ "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, MONDO:0014714" ], "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": [ "KIAA0473", "PARK19" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15469", "gene_name": "DnaJ heat shock protein family (Hsp40) member C6", "omim_gene": [ "608375" ], "alias_name": [ "auxilin" ], "gene_symbol": "DNAJC6", "hgnc_symbol": "DNAJC6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:65713902-65881552", "ensembl_id": "ENSG00000116675" } }, "GRch38": { "90": { "location": "1:65248219-65415869", "ensembl_id": "ENSG00000116675" } } }, "hgnc_date_symbol_changed": "2001-03-30" }, "entity_type": "gene", "entity_name": "DNAJC6", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22563501, 23211418, 26528954, 33983693" ], "evidence": [ "Expert list", "Expert Review Amber" ], "phenotypes": [ "Parkinson disease 19a, juvenile-onset - MIM#615528", "Parkinson disease 19b, early-onset - MIM#615528" ], "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": [ "DRP1", "DVLP", "HDYNIV", "DYMPLE", "VPS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2973", "gene_name": "dynamin 1 like", "omim_gene": [ "603850" ], "alias_name": null, "gene_symbol": "DNM1L", "hgnc_symbol": "DNM1L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:32832134-32898486", "ensembl_id": "ENSG00000087470" } }, "GRch38": { "90": { "location": "12:32679200-32745650", "ensembl_id": "ENSG00000087470" } } }, "hgnc_date_symbol_changed": "2000-04-12" }, "entity_type": "gene", "entity_name": "DNM1L", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "31587467, 27145208, 26604000, 27301544, 26931468, 33718295, 30109270, 26825290, 27328748" ], "evidence": [ "Literature", "ClinGen", "Expert Review Green" ], "phenotypes": [ "Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726" ], "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": [ "KIAA1771", "ZIR2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19190", "gene_name": "dedicator of cytokinesis 7", "omim_gene": [ "615730" ], "alias_name": null, "gene_symbol": "DOCK7", "hgnc_symbol": "DOCK7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:62920399-63153969", "ensembl_id": "ENSG00000116641" } }, "GRch38": { "90": { "location": "1:62454298-62688368", "ensembl_id": "ENSG00000116641" } } }, "hgnc_date_symbol_changed": "2003-11-19" }, "entity_type": "gene", "entity_name": "DOCK7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24814191", "30771731", "30807358" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Developmental and epileptic encephalopathy 23 MIM#615859", "MONDO:0014371" ], "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": [ "KIAA1094", "DK1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23406", "gene_name": "dolichol kinase", "omim_gene": [ "610746" ], "alias_name": [ "dolichol kinase 1" ], "gene_symbol": "DOLK", "hgnc_symbol": "DOLK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:131707809-131709898", "ensembl_id": "ENSG00000175283" } }, "GRch38": { "90": { "location": "9:128945530-128947619", "ensembl_id": "ENSG00000175283" } } }, "hgnc_date_symbol_changed": "2007-02-09" }, "entity_type": "gene", "entity_name": "DOLK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23890587", "28816422", "24144945" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Congenital disorder of glycosylation type Im, 610768" ], "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": [ "GPT", "D11S366", "DGPT", "ALG7", "CDG-Ij" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2995", "gene_name": "dolichyl-phosphate N-acetylglucosaminephosphotransferase 1", "omim_gene": [ "191350" ], "alias_name": [ "GlcNAc-1-P transferase 1", "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1" ], "gene_symbol": "DPAGT1", "hgnc_symbol": "DPAGT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:118967213-118979041", "ensembl_id": "ENSG00000172269" } }, "GRch38": { "90": { "location": "11:119096503-119108331", "ensembl_id": "ENSG00000172269" } } }, "hgnc_date_symbol_changed": "1993-12-13" }, "entity_type": "gene", "entity_name": "DPAGT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12872255", "22492991", "22304930", "31153949", "30653653", "30117111" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Congenital disorder of glycosylation, type Ij, MIM# 608093", "DPAGT1-CDG MONDO:0011964" ], "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": [ "MPDS", "CDGIE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3005", "gene_name": "dolichyl-phosphate mannosyltransferase subunit 1, catalytic", "omim_gene": [ "603503" ], "alias_name": [ "DPM synthase complex, catalytic subunit" ], "gene_symbol": "DPM1", "hgnc_symbol": "DPM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:49551404-49575092", "ensembl_id": "ENSG00000000419" } }, "GRch38": { "90": { "location": "20:50934867-50958555", "ensembl_id": "ENSG00000000419" } } }, "hgnc_date_symbol_changed": "1999-02-23" }, "entity_type": "gene", "entity_name": "DPM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23856421" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Congenital disorder of glycosylation, type Ie, 608799" ], "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": [ "MGC21559", "MGC111193" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3006", "gene_name": "dolichyl-phosphate mannosyltransferase subunit 2, regulatory", "omim_gene": [ "603564" ], "alias_name": [ "DPM synthase complex subunit" ], "gene_symbol": "DPM2", "hgnc_symbol": "DPM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:130697378-130700763", "ensembl_id": "ENSG00000136908" } }, "GRch38": { "90": { "location": "9:127935099-127938484", "ensembl_id": "ENSG00000136908" } } }, "hgnc_date_symbol_changed": "1999-02-23" }, "entity_type": "gene", "entity_name": "DPM2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23109149" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Congenital disorder of glycosylation, type Iu, MIM#615042" ], "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": [ "DPD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3012", "gene_name": "dihydropyrimidine dehydrogenase", "omim_gene": [ "612779" ], "alias_name": null, "gene_symbol": "DPYD", "hgnc_symbol": "DPYD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:97543299-98386605", "ensembl_id": "ENSG00000188641" } }, "GRch38": { "90": { "location": "1:97077743-97921049", "ensembl_id": "ENSG00000188641" } } }, "hgnc_date_symbol_changed": "1994-07-07" }, "entity_type": "gene", "entity_name": "DPYD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19296131", "10071185", "29152729" ], "evidence": [ "Expert Review Green", "NHS GMS", "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Dihydropyrimidine dehydrogenase deficiency, MIM# 274270" ], "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": [ "Dnchc1", "HL-3", "p22", "DHC1", "CMT2O" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2961", "gene_name": "dynein cytoplasmic 1 heavy chain 1", "omim_gene": [ "600112" ], "alias_name": null, "gene_symbol": "DYNC1H1", "hgnc_symbol": "DYNC1H1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:102430865-102517129", "ensembl_id": "ENSG00000197102" } }, "GRch38": { "90": { "location": "14:101964528-102050792", "ensembl_id": "ENSG00000197102" } } }, "hgnc_date_symbol_changed": "2005-11-24" }, "entity_type": "gene", "entity_name": "DYNC1H1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21820100", "32788638", "27549087", "25512093", "28196890" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cortical dysplasia, complex, with other brain malformations 13, MIM# 614563" ], "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:3091", "gene_name": "dual specificity tyrosine phosphorylation regulated kinase 1A", "omim_gene": [ "600855" ], "alias_name": null, "gene_symbol": "DYRK1A", "hgnc_symbol": "DYRK1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:38738092-38889753", "ensembl_id": "ENSG00000157540" } }, "GRch38": { "90": { "location": "21:37365790-37517450", "ensembl_id": "ENSG00000157540" } } }, "hgnc_date_symbol_changed": "1999-01-29" }, "entity_type": "gene", "entity_name": "DYRK1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25707398", "21294719", "23160955", "23099646", "33159716" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Mental retardation, autosomal dominant 7, MIM# 614104", "MONDO:0013578" ], "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": [ "KIAA1970", "MSE1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29419", "gene_name": "glutamyl-tRNA synthetase 2, mitochondrial", "omim_gene": [ "612799" ], "alias_name": [ "glutamate tRNA ligase 2, mitochondrial" ], "gene_symbol": "EARS2", "hgnc_symbol": "EARS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:23533335-23569052", "ensembl_id": "ENSG00000103356" } }, "GRch38": { "90": { "location": "16:23522014-23557731", "ensembl_id": "ENSG00000103356" } } }, "hgnc_date_symbol_changed": "2006-04-04" }, "entity_type": "gene", "entity_name": "EARS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22492562", "23008233", "25854774", "26619324", "26893310", "27206875", "27571996", "27117034" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Leigh syndrome MONDO:0009723", "Combined oxidative phosphorylation deficiency 12 MIM#614924", "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971" ], "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": [ "EEF1AL", "HS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3192", "gene_name": "eukaryotic translation elongation factor 1 alpha 2", "omim_gene": [ "602959" ], "alias_name": null, "gene_symbol": "EEF1A2", "hgnc_symbol": "EEF1A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:62119366-62130505", "ensembl_id": "ENSG00000101210" } }, "GRch38": { "90": { "location": "20:63488013-63499315", "ensembl_id": "ENSG00000101210" } } }, "hgnc_date_symbol_changed": "1995-08-15" }, "entity_type": "gene", "entity_name": "EEF1A2", "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": [ "24697219", "32196822", "32160274", "32062104", "31893083" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Mental retardation, autosomal dominant 38, MIM# 616393", "MONDO:0014617", "Developmental and epileptic encephalopathy 33, MIM# 616409", "MONDO:0014625" ], "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": [ "FLJ10466" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16406", "gene_name": "EF-hand domain containing 1", "omim_gene": [ "608815" ], "alias_name": [ "myoclonin-1" ], "gene_symbol": "EFHC1", "hgnc_symbol": "EFHC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:52285106-52387892", "ensembl_id": "ENSG00000096093" } }, "GRch38": { "90": { "location": "6:52362123-52529886", "ensembl_id": "ENSG00000096093" } } }, "hgnc_date_symbol_changed": "2001-08-21" }, "entity_type": "gene", "entity_name": "EFHC1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31056551", "28370826", "29750216", "33969125", "33181902" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "{Epilepsy, juvenile absence, susceptibility to, 1}, 607631", "{Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770" ], "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": null }, { "gene_data": { "alias": [ "Eu-HMTase1", "FLJ12879", "KIAA1876", "bA188C12.1", "KMT1D", "FLJ40292" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24650", "gene_name": "euchromatic histone lysine methyltransferase 1", "omim_gene": [ "607001" ], "alias_name": null, "gene_symbol": "EHMT1", "hgnc_symbol": "EHMT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:140513444-140764468", "ensembl_id": "ENSG00000181090" } }, "GRch38": { "90": { "location": "9:137618963-137870016", "ensembl_id": "ENSG00000181090" } } }, "hgnc_date_symbol_changed": "2004-06-01" }, "entity_type": "gene", "entity_name": "EHMT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16826528", "19264732", "19293338", "22670143", "30448833" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Kleefstra syndrome 1, MIM# 610253", "MONDO:0027407" ], "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": [ "EIF-2Balpha", "EIF-2B", "EIF2BA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3257", "gene_name": "eukaryotic translation initiation factor 2B subunit alpha", "omim_gene": [ "606686" ], "alias_name": null, "gene_symbol": "EIF2B1", "hgnc_symbol": "EIF2B1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:124104953-124118313", "ensembl_id": "ENSG00000111361" } }, "GRch38": { "90": { "location": "12:123620406-123633766", "ensembl_id": "ENSG00000111361" } } }, "hgnc_date_symbol_changed": "1991-03-04" }, "entity_type": "gene", "entity_name": "EIF2B1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11835386", "26285592", "15776425", "18263758", "25843247", "25761052", "30014503", "31882561" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Leukoencephalopathy with vanishing white matter MIM#603896", "Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-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": null }, { "gene_data": { "alias": [ "EIF2B", "EIF-2Bbeta" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3258", "gene_name": "eukaryotic translation initiation factor 2B subunit beta", "omim_gene": [ "606454" ], "alias_name": null, "gene_symbol": "EIF2B2", "hgnc_symbol": "EIF2B2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:75469614-75476292", "ensembl_id": "ENSG00000119718" } }, "GRch38": { "90": { "location": "14:75002911-75012366", "ensembl_id": "ENSG00000119718" } } }, "hgnc_date_symbol_changed": "1998-10-16" }, "entity_type": "gene", "entity_name": "EIF2B2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21484434", "14566705", "28041799", "30266093", "28597716" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Leukoencephalopathy with vanishing white matter, MIM#603896", "Ovarioleukodystrophy, MIM# 603896" ], "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": [ "EIF2Bgamma", "EIF-2B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3259", "gene_name": "eukaryotic translation initiation factor 2B subunit gamma", "omim_gene": [ "606273" ], "alias_name": null, "gene_symbol": "EIF2B3", "hgnc_symbol": "EIF2B3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:45316450-45452282", "ensembl_id": "ENSG00000070785" } }, "GRch38": { "90": { "location": "1:44850522-44986722", "ensembl_id": "ENSG00000070785" } } }, "hgnc_date_symbol_changed": "1998-10-16" }, "entity_type": "gene", "entity_name": "EIF2B3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11835386", "19158808", "21484434", "18263758", "25843247", "25761052", "28904586", "28597716" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "leukoencephalopathy with vanishing white matter MONDO:0011380" ], "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": [ "EIF2Bdelta", "EIF-2B", "DKFZP586J0119", "EIF2B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3260", "gene_name": "eukaryotic translation initiation factor 2B subunit delta", "omim_gene": [ "606687" ], "alias_name": null, "gene_symbol": "EIF2B4", "hgnc_symbol": "EIF2B4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:27587219-27593353", "ensembl_id": "ENSG00000115211" } }, "GRch38": { "90": { "location": "2:27364352-27370486", "ensembl_id": "ENSG00000115211" } } }, "hgnc_date_symbol_changed": "1998-10-16" }, "entity_type": "gene", "entity_name": "EIF2B4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11835386", "12707859", "18263758", "25843247", "25761052", "30014503" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "leukoencephalopathy with vanishing white matter MONDO:0011380" ], "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": [ "EIF2Bepsilon", "EIF-2B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3261", "gene_name": "eukaryotic translation initiation factor 2B subunit epsilon", "omim_gene": [ "603945" ], "alias_name": null, "gene_symbol": "EIF2B5", "hgnc_symbol": "EIF2B5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:183852826-184402546", "ensembl_id": "ENSG00000145191" } }, "GRch38": { "90": { "location": "3:184135038-184145311", "ensembl_id": "ENSG00000145191" } } }, "hgnc_date_symbol_changed": "1998-10-16" }, "entity_type": "gene", "entity_name": "EIF2B5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11704758", "12325082", "12707859", "14694060", "15136689", "18263758", "25843247", "25761052" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "leukoencephalopathy with vanishing white matter MONDO:0011380" ], "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": [ "EIF2gamma", "EIF2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3267", "gene_name": "eukaryotic translation initiation factor 2 subunit gamma", "omim_gene": [ "300161" ], "alias_name": [ "eukaryotic translation initiation factor 2G" ], "gene_symbol": "EIF2S3", "hgnc_symbol": "EIF2S3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:24072833-24096088", "ensembl_id": "ENSG00000130741" } }, "GRch38": { "90": { "location": "X:24054716-24077971", "ensembl_id": "ENSG00000130741" } } }, "hgnc_date_symbol_changed": "1994-09-06" }, "entity_type": "gene", "entity_name": "EIF2S3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33714664", "32799315", "28055140" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "MEHMO syndrome MIM# 300148" ], "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": [ "EMAP", "HuEMAP", "ELP79" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3330", "gene_name": "echinoderm microtubule associated protein like 1", "omim_gene": [ "602033" ], "alias_name": null, "gene_symbol": "EML1", "hgnc_symbol": "EML1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:100204030-100408397", "ensembl_id": "ENSG00000066629" } }, "GRch38": { "90": { "location": "14:99737693-99942060", "ensembl_id": "ENSG00000066629" } } }, "hgnc_date_symbol_changed": "2002-02-15" }, "entity_type": "gene", "entity_name": "EML1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31710781" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Band heterotopia (MIM# 600348)" ], "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:3341", "gene_name": "empty spiracles homeobox 2", "omim_gene": [ "600035" ], "alias_name": null, "gene_symbol": "EMX2", "hgnc_symbol": "EMX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:119301955-119309056", "ensembl_id": "ENSG00000170370" } }, "GRch38": { "90": { "location": "10:117542444-117549546", "ensembl_id": "ENSG00000170370" } } }, "hgnc_date_symbol_changed": "1994-02-08" }, "entity_type": "gene", "entity_name": "EMX2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8528262", "9359037", "9153481", "9153481", "18409201" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Schizencephaly, MIM# 269160" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "disputed" ], "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": [ "hEPG5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29331", "gene_name": "ectopic P-granules autophagy protein 5 homolog", "omim_gene": [ "615068" ], "alias_name": null, "gene_symbol": "EPG5", "hgnc_symbol": "EPG5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:43427574-43547240", "ensembl_id": "ENSG00000152223" } }, "GRch38": { "90": { "location": "18:45847609-45967274", "ensembl_id": "ENSG00000152223" } } }, "hgnc_date_symbol_changed": "2011-03-02" }, "entity_type": "gene", "entity_name": "EPG5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23222957", "26917586" ], "evidence": [ "Expert Review Green", "NHS GMS", "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Vici syndrome, MIM# 242840" ], "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": [ "LDE", "LD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3413", "gene_name": "EPM2A, laforin glucan phosphatase", "omim_gene": [ "607566" ], "alias_name": null, "gene_symbol": "EPM2A", "hgnc_symbol": "EPM2A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:145822719-146057160", "ensembl_id": "ENSG00000112425" } }, "GRch38": { "90": { "location": "6:145382535-145736023", "ensembl_id": "ENSG00000112425" } } }, "hgnc_date_symbol_changed": "1998-10-01" }, "entity_type": "gene", "entity_name": "EPM2A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9771710", "9931343", "11175283", "12019207", "12560877", "14722920" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Lafora disease MONDO:0009697" ], "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": [ "YF13H12", "HSCO" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23287", "gene_name": "ETHE1, persulfide dioxygenase", "omim_gene": [ "608451" ], "alias_name": null, "gene_symbol": "ETHE1", "hgnc_symbol": "ETHE1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:44010871-44031396", "ensembl_id": "ENSG00000105755" } }, "GRch38": { "90": { "location": "19:43506719-43527244", "ensembl_id": "ENSG00000105755" } } }, "hgnc_date_symbol_changed": "2003-12-15" }, "entity_type": "gene", "entity_name": "ETHE1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "14732903", "28933811" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Ethylmalonic encephalopathy , MIM#602473" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "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": [ "hRrp40p", "Rrp40p", "RRP40", "CGI-102", "p10", "hRrp-40" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17944", "gene_name": "exosome component 3", "omim_gene": [ "606489" ], "alias_name": [ "exosome component Rrp40", "CGI-102 protein" ], "gene_symbol": "EXOSC3", "hgnc_symbol": "EXOSC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:37766975-37801434", "ensembl_id": "ENSG00000107371" } }, "GRch38": { "90": { "location": "9:37766978-37801437", "ensembl_id": "ENSG00000107371" } } }, "hgnc_date_symbol_changed": "2004-03-26" }, "entity_type": "gene", "entity_name": "EXOSC3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22544365", "23284067", "24524299" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Pontocerebellar hypoplasia, type 1B, MIM# 614678" ], "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": [ "FLJ22728", "SDR10E1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26222", "gene_name": "fatty acyl-CoA reductase 1", "omim_gene": [ "616107" ], "alias_name": [ "short chain dehydrogenase/reductase family 10E, member 1" ], "gene_symbol": "FAR1", "hgnc_symbol": "FAR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:13690217-13753893", "ensembl_id": "ENSG00000197601" } }, "GRch38": { "90": { "location": "11:13668670-13732346", "ensembl_id": "ENSG00000197601" } } }, "hgnc_date_symbol_changed": "2008-06-06" }, "entity_type": "gene", "entity_name": "FAR1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25439727" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154" ], "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": [ "dJ236A3.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21062", "gene_name": "phenylalanyl-tRNA synthetase 2, mitochondrial", "omim_gene": [ "611592" ], "alias_name": [ "phenylalanine tRNA ligase 2, mitochondrial" ], "gene_symbol": "FARS2", "hgnc_symbol": "FARS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:5261277-5771813", "ensembl_id": "ENSG00000145982" } }, "GRch38": { "90": { "location": "6:5261044-5771580", "ensembl_id": "ENSG00000145982" } } }, "hgnc_date_symbol_changed": "2004-12-03" }, "entity_type": "gene", "entity_name": "FARS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30250868", "30177229", "29126765", "28043061" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "combined oxidative phosphorylation defect type 14 MONDO:0013986" ], "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:29160", "gene_name": "FAST kinase domains 2", "omim_gene": [ "612322" ], "alias_name": null, "gene_symbol": "FASTKD2", "hgnc_symbol": "FASTKD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:207630081-207657233", "ensembl_id": "ENSG00000118246" } }, "GRch38": { "90": { "location": "2:206765357-206792509", "ensembl_id": "ENSG00000118246" } } }, "hgnc_date_symbol_changed": "2006-07-07" }, "entity_type": "gene", "entity_name": "FASTKD2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18771761", "28499982", "31944455", "34234304" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Mitochondrial complex IV deficiency, MIM#220110" ], "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": [ "FBL4", "FBL5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13601", "gene_name": "F-box and leucine rich repeat protein 4", "omim_gene": [ "605654" ], "alias_name": null, "gene_symbol": "FBXL4", "hgnc_symbol": "FBXL4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:99316420-99395849", "ensembl_id": "ENSG00000112234" } }, "GRch38": { "90": { "location": "6:98868538-98948006", "ensembl_id": "ENSG00000112234" } } }, "hgnc_date_symbol_changed": "2000-09-27" }, "entity_type": "gene", "entity_name": "FBXL4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28940506" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471" ], "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:3629", "gene_name": "farnesyl-diphosphate farnesyltransferase 1", "omim_gene": [ "184420" ], "alias_name": [ "squalene synthase" ], "gene_symbol": "FDFT1", "hgnc_symbol": "FDFT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:11653082-11696818", "ensembl_id": "ENSG00000079459" } }, "GRch38": { "90": { "location": "8:11795573-11839309", "ensembl_id": "ENSG00000079459" } } }, "hgnc_date_symbol_changed": "1993-07-26" }, "entity_type": "gene", "entity_name": "FDFT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29909962" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Squalene synthase deficiency, MIM# 618156" ], "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": [ "FHF1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3668", "gene_name": "fibroblast growth factor 12", "omim_gene": [ "601513" ], "alias_name": [ "fibroblast growth factor 12B", "fibroblast growth factor homologous factor 1", "myocyte-activating factor", "fibroblast growth factor FGF-12b" ], "gene_symbol": "FGF12", "hgnc_symbol": "FGF12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:191857184-192485553", "ensembl_id": "ENSG00000114279" } }, "GRch38": { "90": { "location": "3:192139395-192767764", "ensembl_id": "ENSG00000114279" } } }, "hgnc_date_symbol_changed": "1996-10-26" }, "entity_type": "gene", "entity_name": "FGF12", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32645220", "27164707", "27830185", "27872899" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Developmental and epileptic encephalopathy 47, MIM# 617166" ], "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": [ "CEK2", "JTK4", "CD333" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3690", "gene_name": "fibroblast growth factor receptor 3", "omim_gene": [ "134934" ], "alias_name": null, "gene_symbol": "FGFR3", "hgnc_symbol": "FGFR3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:1795034-1810599", "ensembl_id": "ENSG00000068078" } }, "GRch38": { "90": { "location": "4:1793307-1808872", "ensembl_id": "ENSG00000068078" } } }, "hgnc_date_symbol_changed": "1991-06-07" }, "entity_type": "gene", "entity_name": "FGFR3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24630288", "27485793", "23649205", "12794698" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Hypochondroplasia, MIM#146000" ], "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": [ "fumarase" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3700", "gene_name": "fumarate hydratase", "omim_gene": [ "136850" ], "alias_name": null, "gene_symbol": "FH", "hgnc_symbol": "FH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:241660903-241683061", "ensembl_id": "ENSG00000091483" } }, "GRch38": { "90": { "location": "1:241497603-241519761", "ensembl_id": "ENSG00000091483" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "FH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301679", "10805328", "20549362", "15221078", "16151915" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Fumarase deficiency, MIM#606812" ], "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": [ "SAC3", "hSac3", "dJ249I4.1", "ALS11", "CMT4J" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16873", "gene_name": "FIG4 phosphoinositide 5-phosphatase", "omim_gene": [ "609390" ], "alias_name": null, "gene_symbol": "FIG4", "hgnc_symbol": "FIG4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:110012499-110146631", "ensembl_id": "ENSG00000112367" } }, "GRch38": { "90": { "location": "6:109691312-109825428", "ensembl_id": "ENSG00000112367" } } }, "hgnc_date_symbol_changed": "2007-07-30" }, "entity_type": "gene", "entity_name": "FIG4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24598713" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Polymicrogyria, bilateral temporooccipital, MIM#612691" ], "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": [ "LGMD2I", "MDC1C" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17997", "gene_name": "fukutin related protein", "omim_gene": [ "606596" ], "alias_name": null, "gene_symbol": "FKRP", "hgnc_symbol": "FKRP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:47249303-47280245", "ensembl_id": "ENSG00000181027" } }, "GRch38": { "90": { "location": "19:46746046-46776988", "ensembl_id": "ENSG00000181027" } } }, "hgnc_date_symbol_changed": "2003-12-04" }, "entity_type": "gene", "entity_name": "FKRP", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert Review Amber", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153" ], "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": [ "LGMD2M" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3622", "gene_name": "fukutin", "omim_gene": [ "607440" ], "alias_name": null, "gene_symbol": "FKTN", "hgnc_symbol": "FKTN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:108320411-108403399", "ensembl_id": "ENSG00000106692" } }, "GRch38": { "90": { "location": "9:105558130-105641118", "ensembl_id": "ENSG00000106692" } } }, "hgnc_date_symbol_changed": "2007-11-21" }, "entity_type": "gene", "entity_name": "FKTN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9690476", "19017726", "20301385", "28680109" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy MONDO:0018276" ], "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": [ "ABP-280" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3754", "gene_name": "filamin A", "omim_gene": [ "300017" ], "alias_name": [ "actin binding protein 280", "alpha filamin" ], "gene_symbol": "FLNA", "hgnc_symbol": "FLNA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153576892-153603006", "ensembl_id": "ENSG00000196924" } }, "GRch38": { "90": { "location": "X:154348524-154374638", "ensembl_id": "ENSG00000196924" } } }, "hgnc_date_symbol_changed": "1993-03-18" }, "entity_type": "gene", "entity_name": "FLNA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30089473" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Heterotopia, periventricular, 1, MIM#\t300049" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3791", "gene_name": "folate receptor 1", "omim_gene": [ "136430" ], "alias_name": [ "folate receptor alpha" ], "gene_symbol": "FOLR1", "hgnc_symbol": "FOLR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:71900602-71907345", "ensembl_id": "ENSG00000110195" } }, "GRch38": { "90": { "location": "11:72189558-72196323", "ensembl_id": "ENSG00000110195" } } }, "hgnc_date_symbol_changed": "1991-08-08" }, "entity_type": "gene", "entity_name": "FOLR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19732866", "30420205", "27743887" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068" ], "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": [ "HFK2", "QIN", "BF1", "HFK1", "HFK3", "HBF-3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3811", "gene_name": "forkhead box G1", "omim_gene": [ "164874" ], "alias_name": null, "gene_symbol": "FOXG1", "hgnc_symbol": "FOXG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:29235050-29238870", "ensembl_id": "ENSG00000176165" } }, "GRch38": { "90": { "location": "14:28760330-28770277", "ensembl_id": "ENSG00000176165" } } }, "hgnc_date_symbol_changed": "2007-05-16" }, "entity_type": "gene", "entity_name": "FOXG1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18571142", "30842224" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Rett syndrome, congenital variant, MIM# 613454" ], "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": [ "H17" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26927", "gene_name": "FAD dependent oxidoreductase domain containing 1", "omim_gene": [ "613622" ], "alias_name": null, "gene_symbol": "FOXRED1", "hgnc_symbol": "FOXRED1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:126138950-126148026", "ensembl_id": "ENSG00000110074" } }, "GRch38": { "90": { "location": "11:126269055-126278131", "ensembl_id": "ENSG00000110074" } } }, "hgnc_date_symbol_changed": "2006-02-03" }, "entity_type": "gene", "entity_name": "FOXRED1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20858599", "20818383", "31434271" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000" ], "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": [ "CG-6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1362", "gene_name": "ferric chelate reductase 1 like", "omim_gene": [ "604574" ], "alias_name": null, "gene_symbol": "FRRS1L", "hgnc_symbol": "FRRS1L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:111892573-111929571", "ensembl_id": "ENSG00000260230" } }, "GRch38": { "90": { "location": "9:109130293-109167291", "ensembl_id": "ENSG00000260230" } } }, "hgnc_date_symbol_changed": "2012-03-06" }, "entity_type": "gene", "entity_name": "FRRS1L", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27236917", "27239025", "30692144" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Developmental and epileptic encephalopathy, 37 MONDO:0014859" ], "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:4006", "gene_name": "alpha-L-fucosidase 1", "omim_gene": [ "612280" ], "alias_name": [ "α-L-fucosidase 1", "tissue fucosidase", "a-L-fucosidase 1" ], "gene_symbol": "FUCA1", "hgnc_symbol": "FUCA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:24171567-24194784", "ensembl_id": "ENSG00000179163" } }, "GRch38": { "90": { "location": "1:23845077-23868294", "ensembl_id": "ENSG00000179163" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "FUCA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10094192" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Fucosidosis, MIM# 230000", "MONDO:0009254" ], "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": [ "HG20", "GABABR2", "GPRC3B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4507", "gene_name": "gamma-aminobutyric acid type B receptor subunit 2", "omim_gene": [ "607340" ], "alias_name": null, "gene_symbol": "GABBR2", "hgnc_symbol": "GABBR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:101050391-101471479", "ensembl_id": "ENSG00000136928" } }, "GRch38": { "90": { "location": "9:98288082-98709197", "ensembl_id": "ENSG00000136928" } } }, "hgnc_date_symbol_changed": "2006-02-16" }, "entity_type": "gene", "entity_name": "GABBR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29100083", "25262651", "28856709" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Developmental and epileptic encephalopathy 59, MIM# 617904" ], "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": [ "EJM5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4075", "gene_name": "gamma-aminobutyric acid type A receptor alpha1 subunit", "omim_gene": [ "137160" ], "alias_name": [ "GABA(A) receptor, alpha 1" ], "gene_symbol": "GABRA1", "hgnc_symbol": "GABRA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:161274197-161326975", "ensembl_id": "ENSG00000022355" } }, "GRch38": { "90": { "location": "5:161847063-161899981", "ensembl_id": "ENSG00000022355" } } }, "hgnc_date_symbol_changed": "1989-06-02" }, "entity_type": "gene", "entity_name": "GABRA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11992121", "21714819", "24623842", "30842224" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 19 615744", "Rett syndrome", "Rett-like phenotypes", "idiopathic generalized Epilepsy", "Dravet syndrome" ], "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:4082", "gene_name": "gamma-aminobutyric acid type A receptor beta2 subunit", "omim_gene": [ "600232" ], "alias_name": [ "GABA(A) receptor, beta 2" ], "gene_symbol": "GABRB2", "hgnc_symbol": "GABRB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:160715436-160976050", "ensembl_id": "ENSG00000145864" } }, "GRch38": { "90": { "location": "5:161288429-161549044", "ensembl_id": "ENSG00000145864" } } }, "hgnc_date_symbol_changed": "1994-04-29" }, "entity_type": "gene", "entity_name": "GABRB2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27789573", "29100083" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829" ], "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:4083", "gene_name": "gamma-aminobutyric acid type A receptor beta3 subunit", "omim_gene": [ "137192" ], "alias_name": [ "GABA(A) receptor, beta 3" ], "gene_symbol": "GABRB3", "hgnc_symbol": "GABRB3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:26788693-27184686", "ensembl_id": "ENSG00000166206" } }, "GRch38": { "90": { "location": "15:26543546-26939539", "ensembl_id": "ENSG00000166206" } } }, "hgnc_date_symbol_changed": "1991-06-05" }, "entity_type": "gene", "entity_name": "GABRB3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23934111", "27476654" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 43, MIM# 617113" ], "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:4087", "gene_name": "gamma-aminobutyric acid type A receptor gamma2 subunit", "omim_gene": [ "137164" ], "alias_name": [ "GABA(A) receptor, gamma 2" ], "gene_symbol": "GABRG2", "hgnc_symbol": "GABRG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:161494546-161582542", "ensembl_id": "ENSG00000113327" } }, "GRch38": { "90": { "location": "5:162000057-162162977", "ensembl_id": "ENSG00000113327" } } }, "hgnc_date_symbol_changed": "1991-02-26" }, "entity_type": "gene", "entity_name": "GABRG2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11326274", "11326275", "27864268" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 74 618396", "Epilepsy, generalized, with febrile seizures plus, type 3 607681" ], "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:4115", "gene_name": "galactosylceramidase", "omim_gene": [ "606890" ], "alias_name": [ "Krabbe disease" ], "gene_symbol": "GALC", "hgnc_symbol": "GALC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:88304164-88460009", "ensembl_id": "ENSG00000054983" } }, "GRch38": { "90": { "location": "14:87837820-87993665", "ensembl_id": "ENSG00000054983" } } }, "hgnc_date_symbol_changed": "1989-06-02" }, "entity_type": "gene", "entity_name": "GALC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20886637" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Krabbe disease, MIM# 245200", "MONDO:0009499" ], "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": [ "PIG2", "TP53I2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4136", "gene_name": "guanidinoacetate N-methyltransferase", "omim_gene": [ "601240" ], "alias_name": null, "gene_symbol": "GAMT", "hgnc_symbol": "GAMT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:1397091-1401569", "ensembl_id": "ENSG00000130005" } }, "GRch38": { "90": { "location": "19:1397026-1401570", "ensembl_id": "ENSG00000130005" } } }, "hgnc_date_symbol_changed": "1996-07-19" }, "entity_type": "gene", "entity_name": "GAMT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27604308", "8651275" ], "evidence": [ "Expert Review Green", "NHS GMS", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Cerebral creatine deficiency syndrome 2 MIM#612736", "Disorders of creatinine metabolism" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "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": [ "GBA1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4177", "gene_name": "glucosylceramidase beta", "omim_gene": [ "606463" ], "alias_name": null, "gene_symbol": "GBA", "hgnc_symbol": "GBA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:155204243-155214490", "ensembl_id": "ENSG00000177628" } }, "GRch38": { "90": { "location": "1:155234452-155244699", "ensembl_id": "ENSG00000177628" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "GBA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Gaucher disease, perinatal lethal, MIM# 608013", "Gaucher disease, type I, MIM# 230800", "Gaucher disease, type II, MIM# 230900", "Gaucher disease, type III, MIM# 231000", "Gaucher disease, type IIIC, MIM# 231005" ], "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": [ "GTPCH1", "DYT5a" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4193", "gene_name": "GTP cyclohydrolase 1", "omim_gene": [ "600225" ], "alias_name": [ "dopa-responsive dystonia" ], "gene_symbol": "GCH1", "hgnc_symbol": "GCH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:55308726-55369570", "ensembl_id": "ENSG00000131979" } }, "GRch38": { "90": { "location": "14:54842008-54902852", "ensembl_id": "ENSG00000131979" } } }, "hgnc_date_symbol_changed": "1988-05-11" }, "entity_type": "gene", "entity_name": "GCH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "7730309" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910" ], "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": [ "FLJ45472" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4235", "gene_name": "glial fibrillary acidic protein", "omim_gene": [ "137780" ], "alias_name": [ "intermediate filament protein" ], "gene_symbol": "GFAP", "hgnc_symbol": "GFAP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:42982376-42994305", "ensembl_id": "ENSG00000131095" } }, "GRch38": { "90": { "location": "17:44903161-44916937", "ensembl_id": "ENSG00000131095" } } }, "hgnc_date_symbol_changed": "1989-12-07" }, "entity_type": "gene", "entity_name": "GFAP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11138011", "12034785", "31004048", "15732097" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Alexander disease, MIM#\t203450" ], "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": [ "EFGM", "GFM", "EGF1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13780", "gene_name": "G elongation factor mitochondrial 1", "omim_gene": [ "606639" ], "alias_name": null, "gene_symbol": "GFM1", "hgnc_symbol": "GFM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:158362067-158410364", "ensembl_id": "ENSG00000168827" } }, "GRch38": { "90": { "location": "3:158644278-158692575", "ensembl_id": "ENSG00000168827" } } }, "hgnc_date_symbol_changed": "2004-11-25" }, "entity_type": "gene", "entity_name": "GFM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31680380", "25852744", "26937387" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 1 MIM#609060" ], "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": [ "EBP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4298", "gene_name": "galactosidase beta 1", "omim_gene": [ "611458" ], "alias_name": null, "gene_symbol": "GLB1", "hgnc_symbol": "GLB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:33038100-33138722", "ensembl_id": "ENSG00000170266" } }, "GRch38": { "90": { "location": "3:32996608-33097230", "ensembl_id": "ENSG00000170266" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "GLB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24156116" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "GM1-gangliosidosis, type I MIM#230500", "GM1-gangliosidosis, type II MIM# 230600" ], "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": [ "GCSP", "NKH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4313", "gene_name": "glycine decarboxylase", "omim_gene": [ "238300" ], "alias_name": [ "glycine cleavage system protein P", "glycine dehydrogenase" ], "gene_symbol": "GLDC", "hgnc_symbol": "GLDC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:6532464-6645650", "ensembl_id": "ENSG00000178445" } }, "GRch38": { "90": { "location": "9:6532464-6645783", "ensembl_id": "ENSG00000178445" } } }, "hgnc_date_symbol_changed": "1992-04-08" }, "entity_type": "gene", "entity_name": "GLDC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27604308", "2246863", "1634607", "27362913" ], "evidence": [ "Expert Review Green", "NHS GMS", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Glycine encephalopathy (MIM#605899)" ], "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 } ] }