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GET /api/v1/entities/?format=api&page=165
{ "count": 36079, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=166", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=164", "results": [ { "gene_data": { "alias": [ "MGC7199", "NgBR", "TANGO14" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21042", "gene_name": "NUS1 dehydrodolichyl diphosphate synthase subunit", "omim_gene": [ "610463" ], "alias_name": [ "Nogo-B receptor", "transport and golgi organization 14 homolog (Drosophila)" ], "gene_symbol": "NUS1", "hgnc_symbol": "NUS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:117996665-118031803", "ensembl_id": "ENSG00000153989" } }, "GRch38": { "90": { "location": "6:117675502-117710640", "ensembl_id": "ENSG00000153989" } } }, "hgnc_date_symbol_changed": "2006-11-24" }, "entity_type": "gene", "entity_name": "NUS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 32485575", "30348779" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Intellectual developmental disorder, autosomal dominant 55, with seizures, MIM#\t617831", "Parkinsonism", "Developmental delay", "Intellectual disability", "Ataxia", "Myoclonus" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 26, "hash_id": null, "name": "Early-onset Parkinson disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "2.55", "version_created": "2026-04-17T16:01:21.596122+10:00", "relevant_disorders": [ "Abnormality of extrapyramidal motor function", "HP:0002071" ], "stats": { "number_of_genes": 129, "number_of_strs": 14, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZp564K0322", "3M3", "PPP1R20" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25367", "gene_name": "coiled-coil domain containing 8", "omim_gene": [ "614145" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 20" ], "gene_symbol": "CCDC8", "hgnc_symbol": "CCDC8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:46913629-46916841", "ensembl_id": "ENSG00000169515" } }, "GRch38": { "90": { "location": "19:46410372-46413584", "ensembl_id": "ENSG00000169515" } } }, "hgnc_date_symbol_changed": "2004-02-11" }, "entity_type": "gene", "entity_name": "CCDC8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "21737058" ], "evidence": [ "Expert Review Green", "Expert list", "Literature" ], "phenotypes": [ "3-M syndrome 3 - MIM#614205" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 28, "hash_id": null, "name": "Skeletal Dysplasia_Fetal", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.", "status": "public", "version": "0.249", "version_created": "2026-04-23T20:41:39.653354+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 157, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HER3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3431", "gene_name": "erb-b2 receptor tyrosine kinase 3", "omim_gene": [ "190151" ], "alias_name": [ "human epidermal growth factor receptor 3" ], "gene_symbol": "ERBB3", "hgnc_symbol": "ERBB3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:56473641-56497289", "ensembl_id": "ENSG00000065361" } }, "GRch38": { "90": { "location": "12:56079857-56103505", "ensembl_id": "ENSG00000065361" } } }, "hgnc_date_symbol_changed": "1990-07-15" }, "entity_type": "gene", "entity_name": "ERBB3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17701904", "31752936" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Lethal congenital contractural syndrome 2, MIM# 607598" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 47, "hash_id": null, "name": "Arthrogryposis", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.", "status": "public", "version": "1.19", "version_created": "2026-04-02T19:32:17.814766+11:00", "relevant_disorders": [ "Flexion contracture", "HP:0001371" ], "stats": { "number_of_genes": 241, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ10707" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25566", "gene_name": "SET domain containing 5", "omim_gene": [ "615743" ], "alias_name": null, "gene_symbol": "SETD5", "hgnc_symbol": "SETD5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:9439299-9520924", "ensembl_id": "ENSG00000168137" } }, "GRch38": { "90": { "location": "3:9397615-9479240", "ensembl_id": "ENSG00000168137" } } }, "hgnc_date_symbol_changed": "2006-02-15" }, "entity_type": "gene", "entity_name": "SETD5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29484850" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Intellectual disability, autosomal dominant 23 (MIM # 615761)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 51, "hash_id": null, "name": "Autism", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.249", "version_created": "2026-04-18T18:49:11.555064+10:00", "relevant_disorders": [ "Autism", "HP:0000717" ], "stats": { "number_of_genes": 157, "number_of_strs": 0, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MAGP2", "MP25" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29673", "gene_name": "microfibril associated protein 5", "omim_gene": [ "601103" ], "alias_name": [ "microfibril-associated glycoprotein-2" ], "gene_symbol": "MFAP5", "hgnc_symbol": "MFAP5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:8789942-8815484", "ensembl_id": "ENSG00000197614" } }, "GRch38": { "90": { "location": "12:8637346-8662888", "ensembl_id": "ENSG00000197614" } } }, "hgnc_date_symbol_changed": "2004-04-05" }, "entity_type": "gene", "entity_name": "MFAP5", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25434006", "30763214" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Aortic aneurysm, familial thoracic MIM# 616166", "MONDO:0014514" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 54, "hash_id": null, "name": "Bleeding and Platelet Disorders", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with coagulation, platelet and blood vessel disorders that predispose to bleeding and to thrombosis.", "status": "public", "version": "1.77", "version_created": "2026-04-08T12:32:35.286494+10:00", "relevant_disorders": [ "Abnormal bleeding", "HP:0001892;Abnormal thrombosis", "HP:0001977" ], "stats": { "number_of_genes": 140, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "C-FMS", "CSFR", "CD115" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2433", "gene_name": "colony stimulating factor 1 receptor", "omim_gene": [ "164770" ], "alias_name": null, "gene_symbol": "CSF1R", "hgnc_symbol": "CSF1R", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:149432854-149492935", "ensembl_id": "ENSG00000182578" } }, "GRch38": { "90": { "location": "5:150053291-150113372", "ensembl_id": "ENSG00000182578" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "CSF1R", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30982609", "33749994", "34135456" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476", "BANDDOS" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 58, "hash_id": null, "name": "Brain Calcification", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Primary brain calcification disorders are characterised by abnormal deposits of calcium in blood vessels within the brain, particularly the basal ganglia. They typically present with movement disorders and psychiatric or behavioural problems. This panel also contains other multi-system conditions where brain calcification can occur as part of the phenotype.\r\n\r\nThis panel was developed and is maintained by VCGS.\r\n\r\nThe panel has been compared against the Genomics England PanelApp Intracerebral Calcifications panel V1.27 with all discrepancies resolved and reciprocal feedback provided to Genomics England.\r\n\r\nUpdated December 2025 following literature review.", "status": "public", "version": "2.8", "version_created": "2026-04-26T17:47:33.973929+10:00", "relevant_disorders": [ "Cerebral calcification", "HP:0002514" ], "stats": { "number_of_genes": 96, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MOG1", "HSPC165", "HSPC236", "RANGNRF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17679", "gene_name": "RAN guanine nucleotide release factor", "omim_gene": [ "607954" ], "alias_name": [ "MOG1 homolog (S. cerevisiae)" ], "gene_symbol": "RANGRF", "hgnc_symbol": "RANGRF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:8191815-8193410", "ensembl_id": "ENSG00000108961" } }, "GRch38": { "90": { "location": "17:8288497-8290092", "ensembl_id": "ENSG00000108961" } } }, "hgnc_date_symbol_changed": "2007-06-21" }, "entity_type": "gene", "entity_name": "RANGRF", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Brugada syndrome, MONDO:0015263" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "refuted" ], "panel": { "id": 60, "hash_id": null, "name": "Brugada syndrome", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.46", "version_created": "2026-02-06T09:29:49.325637+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 23, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8966", "gene_name": "phosphatidylinositol glycan anchor biosynthesis class L", "omim_gene": [ "605947" ], "alias_name": [ "N-acetylglucosaminylphosphatidylinositol deacetylase" ], "gene_symbol": "PIGL", "hgnc_symbol": "PIGL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:16120505-16252115", "ensembl_id": "ENSG00000108474" } }, "GRch38": { "90": { "location": "17:16217191-16351797", "ensembl_id": "ENSG00000108474" } } }, "hgnc_date_symbol_changed": "1999-04-15" }, "entity_type": "gene", "entity_name": "PIGL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22444671", "31535386", "30023290", "29473937", "28371479", "25706356" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "CHIME syndrome, MIM# 280000, MONDO:0010221" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "SV/CNV", "founder" ], "panel": { "id": 68, "hash_id": null, "name": "Congenital Disorders of Glycosylation", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital Disorders of Glycosylation' panel v2.4 with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.86", "version_created": "2026-04-24T16:54:13.705855+10:00", "relevant_disorders": [ "Abnormal transferrin saturation", "HP:0040135" ], "stats": { "number_of_genes": 141, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:25198", "gene_name": "solute carrier family 25 member 46", "omim_gene": [ "610826" ], "alias_name": null, "gene_symbol": "SLC25A46", "hgnc_symbol": "SLC25A46", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:110073837-110100857", "ensembl_id": "ENSG00000164209" } }, "GRch38": { "90": { "location": "5:110738136-110765161", "ensembl_id": "ENSG00000164209" } } }, "hgnc_date_symbol_changed": "2006-09-21" }, "entity_type": "gene", "entity_name": "SLC25A46", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27543974", "28637197", "28376086", "26168012" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Pontocerebellar hypoplasia, type 1E, MIM# 619303" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 72, "hash_id": null, "name": "Cerebellar and Pontocerebellar Hypoplasia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the panels used by VCGS and RMH and is a consensus panel maintained by both.", "status": "public", "version": "1.100", "version_created": "2026-04-02T11:42:58.167964+11:00", "relevant_disorders": [ "Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879" ], "stats": { "number_of_genes": 122, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CDHF6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3050", "gene_name": "desmoglein 3", "omim_gene": [ "169615" ], "alias_name": [ "pemphigus vulgaris antigen" ], "gene_symbol": "DSG3", "hgnc_symbol": "DSG3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:29027758-29058665", "ensembl_id": "ENSG00000134757" } }, "GRch38": { "90": { "location": "18:31447795-31478702", "ensembl_id": "ENSG00000134757" } } }, "hgnc_date_symbol_changed": "1992-08-25" }, "entity_type": "gene", "entity_name": "DSG3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26763450", "37850634", "30528827" ], "evidence": [ "Expert Review Amber", "Expert list", "Expert list" ], "phenotypes": [ "Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 97, "hash_id": null, "name": "Desmosomal disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nDesmosomal disorders typically affect skin, hair and heart, causing blistering/peeling, alopecia/hypotrichosis and cardiomyopathy.", "status": "public", "version": "1.4", "version_created": "2026-03-24T17:36:11.745191+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066; Alopecia", "HP:0001596" ], "stats": { "number_of_genes": 14, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8927", "gene_name": "phosphorylase kinase regulatory subunit beta", "omim_gene": [ "172490" ], "alias_name": null, "gene_symbol": "PHKB", "hgnc_symbol": "PHKB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:47495034-47735434", "ensembl_id": "ENSG00000102893" } }, "GRch38": { "90": { "location": "16:47461123-47701523", "ensembl_id": "ENSG00000102893" } } }, "hgnc_date_symbol_changed": "1989-02-23" }, "entity_type": "gene", "entity_name": "PHKB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9215682", "25266922", "30659246" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750", "Glycogen storage disease IXb, MONDO:0009868" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 0 }, "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": [ "CMD1I", "CSM1", "CSM2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2770", "gene_name": "desmin", "omim_gene": [ "125660" ], "alias_name": [ "intermediate filament protein" ], "gene_symbol": "DES", "hgnc_symbol": "DES", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:220283099-220291461", "ensembl_id": "ENSG00000175084" } }, "GRch38": { "90": { "location": "2:219418377-219426739", "ensembl_id": "ENSG00000175084" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "DES", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "39132495" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Desminopathy" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 111, "hash_id": null, "name": "Hypertrophic cardiomyopathy", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hypertrophic cardiomyopathy or isolated left ventricular hypertrophy (including sarcomere, sarcomere-associated and syndromic conditions), typically with onset in adolescence or adulthood. For early-onset hypertrophic cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel was developed by VCGS and is maintained by VCGS and RMH. It has been compared against the Genomics England 'Hypertrophic Cardiomyopathy - teen and adult' panel and incorporates gene-disease validity assessments by the ClinGen HCM working group (PMID: 30681346), 5/8/2020 and Hereditary Cardiovascular Disorders Gene Curation Expert Panel (PMID: 39132495).", "status": "public", "version": "1.25", "version_created": "2026-03-11T18:45:28.302854+11:00", "relevant_disorders": [ "Hypertrophic cardiomyopathy", "HP:0001639" ], "stats": { "number_of_genes": 64, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "parafibromin", "FIHP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16783", "gene_name": "cell division cycle 73", "omim_gene": [ "607393" ], "alias_name": [ "Paf1/RNA polymerase II complex component" ], "gene_symbol": "CDC73", "hgnc_symbol": "CDC73", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:193091147-193223031", "ensembl_id": "ENSG00000134371" } }, "GRch38": { "90": { "location": "1:193122017-193253901", "ensembl_id": "ENSG00000134371" } } }, "hgnc_date_symbol_changed": "2005-07-20" }, "entity_type": "gene", "entity_name": "CDC73", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12434154" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hyperparathyroidism-jaw tumour syndrome, MIM# 145001", "Hyperparathyroidism, familial primary, MIM# 145000" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 117, "hash_id": null, "name": "Hypercalcaemia", "disease_group": "Endocrine disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and RMH. For all disorders associated with abnormalities in calcium metabolism the Calcium and Phosphate disorders panel is recommended.\r\n\r\nWilliams syndrome is a relatively common cause of hypercalcaemia in infants and should be excluded first using chromosomal microarray (CMA).", "status": "public", "version": "1.2", "version_created": "2023-01-03T17:40:50.155481+11:00", "relevant_disorders": [ "Hypercalcemia", "HP:0003072" ], "stats": { "number_of_genes": 12, "number_of_strs": 0, "number_of_regions": 0 }, "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" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ38755", "dJ50J22.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21246", "gene_name": "patatin like phospholipase domain containing 1", "omim_gene": [ "612121" ], "alias_name": null, "gene_symbol": "PNPLA1", "hgnc_symbol": "PNPLA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:36210980-36276372", "ensembl_id": "ENSG00000180316" } }, "GRch38": { "90": { "location": "6:36243203-36312229", "ensembl_id": "ENSG00000180316" } } }, "hgnc_date_symbol_changed": "2003-05-29" }, "entity_type": "gene", "entity_name": "PNPLA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22246504", "24344921", "26691440" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ichthyosis, congenital, autosomal recessive 10, MIM# 615024" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 124, "hash_id": null, "name": "Ichthyosis and Porokeratosis", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and RMH. It contains genes that cause non-syndromic and syndromic ichthyosis and porokeratosis.", "status": "public", "version": "1.25", "version_created": "2026-03-19T12:26:58.874178+11:00", "relevant_disorders": [ "Ichthyosis", "HP:0008064;Porokeratosis", "HP:0200044" ], "stats": { "number_of_genes": 65, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "SREBP2", "bHLHd2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11290", "gene_name": "sterol regulatory element binding transcription factor 2", "omim_gene": [ "600481" ], "alias_name": null, "gene_symbol": "SREBF2", "hgnc_symbol": "SREBF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:42229109-42303312", "ensembl_id": "ENSG00000198911" } }, "GRch38": { "90": { "location": "22:41833079-41907308", "ensembl_id": "ENSG00000198911" } } }, "hgnc_date_symbol_changed": "1994-11-23" }, "entity_type": "gene", "entity_name": "SREBF2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38847193" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurocutaneous syndrome, MONDO:0042983, SREBF2-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 124, "hash_id": null, "name": "Ichthyosis and Porokeratosis", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and RMH. It contains genes that cause non-syndromic and syndromic ichthyosis and porokeratosis.", "status": "public", "version": "1.25", "version_created": "2026-03-19T12:26:58.874178+11:00", "relevant_disorders": [ "Ichthyosis", "HP:0008064;Porokeratosis", "HP:0200044" ], "stats": { "number_of_genes": 65, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CDC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9175", "gene_name": "DNA polymerase delta 1, catalytic subunit", "omim_gene": [ "174761" ], "alias_name": [ "CDC2 homolog (S. cerevisiae)" ], "gene_symbol": "POLD1", "hgnc_symbol": "POLD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:50887461-50921273", "ensembl_id": "ENSG00000062822" } }, "GRch38": { "90": { "location": "19:50384204-50418018", "ensembl_id": "ENSG00000062822" } } }, "hgnc_date_symbol_changed": "1992-02-06" }, "entity_type": "gene", "entity_name": "POLD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23770608", "33618333", "33369179", "32826474", "30023403", "29199204", "28791128" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381", "MONDO:0014157" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 130, "hash_id": null, "name": "Lipodystrophy_Lipoatrophy", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.", "status": "public", "version": "1.42", "version_created": "2026-02-17T18:29:33.924527+11:00", "relevant_disorders": [ "Lipodystrophy", "HP:0009125" ], "stats": { "number_of_genes": 39, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Kir3.4", "CIR", "KATP1", "GIRK4", "LQT13" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6266", "gene_name": "potassium voltage-gated channel subfamily J member 5", "omim_gene": [ "600734" ], "alias_name": null, "gene_symbol": "KCNJ5", "hgnc_symbol": "KCNJ5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:128761251-128790930", "ensembl_id": "ENSG00000120457" } }, "GRch38": { "90": { "location": "11:128891356-128921035", "ensembl_id": "ENSG00000120457" } } }, "hgnc_date_symbol_changed": "1995-04-13" }, "entity_type": "gene", "entity_name": "KCNJ5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31983240" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Long QT syndrome 13, MIM#\t613485" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "disputed" ], "panel": { "id": 131, "hash_id": null, "name": "Long QT Syndrome", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.", "status": "public", "version": "0.63", "version_created": "2026-02-06T09:22:25.758996+11:00", "relevant_disorders": [ "Prolonged QT interval", "HP:0001657" ], "stats": { "number_of_genes": 18, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PMCA3", "CFAP39" ], "biotype": "protein_coding", "hgnc_id": "HGNC:816", "gene_name": "ATPase plasma membrane Ca2+ transporting 3", "omim_gene": [ "300014" ], "alias_name": [ "plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39" ], "gene_symbol": "ATP2B3", "hgnc_symbol": "ATP2B3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:152783134-152848397", "ensembl_id": "ENSG00000067842" } }, "GRch38": { "90": { "location": "X:153517676-153582939", "ensembl_id": "ENSG00000067842" } } }, "hgnc_date_symbol_changed": "1992-07-10" }, "entity_type": "gene", "entity_name": "ATP2B3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "37821930", "36207321", "31680123", "28807751", "28720891", "27653636", "25953895" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital", "GeneReviews", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spinocerebellar ataxia, X-linked 1, MIM#302500" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TAD3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25151", "gene_name": "adenosine deaminase, tRNA specific 3", "omim_gene": [ "615302" ], "alias_name": [ "tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)" ], "gene_symbol": "ADAT3", "hgnc_symbol": "ADAT3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:1905377-1913444", "ensembl_id": "ENSG00000213638" } }, "GRch38": { "90": { "location": "19:1905378-1913447", "ensembl_id": "ENSG00000213638" } } }, "hgnc_date_symbol_changed": "2007-08-16" }, "entity_type": "gene", "entity_name": "ADAT3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23620220", "26842963", "29796286" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mental retardation, autosomal recessive 36, MIM#615286" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3666", "gene_name": "fibroblast growth factor 10", "omim_gene": [ "602115" ], "alias_name": null, "gene_symbol": "FGF10", "hgnc_symbol": "FGF10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:44303646-44389808", "ensembl_id": "ENSG00000070193" } }, "GRch38": { "90": { "location": "5:44303544-44389706", "ensembl_id": "ENSG00000070193" } } }, "hgnc_date_symbol_changed": "1996-12-16" }, "entity_type": "gene", "entity_name": "FGF10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9916808", "15654336", "16501574", "16630169", "17213838", "33967277", "30639323" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "congenital alveolar dysplasia due to FGF10 MONDO:0100090", "acinar dysplasia caused by mutation in FGF10 MONDO:0600017" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5111", "gene_name": "homeobox B1", "omim_gene": [ "142968" ], "alias_name": null, "gene_symbol": "HOXB1", "hgnc_symbol": "HOXB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:46605888-46608359", "ensembl_id": "ENSG00000120094" } }, "GRch38": { "90": { "location": "17:48528526-48530997", "ensembl_id": "ENSG00000120094" } } }, "hgnc_date_symbol_changed": "1990-06-15" }, "entity_type": "gene", "entity_name": "HOXB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22770981", "26007620", "27144914" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Facial paresis, hereditary congenital, 3, MIM# 614744", "MONDO:0013880" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "IRAK-M" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17020", "gene_name": "interleukin 1 receptor associated kinase 3", "omim_gene": [ "604459" ], "alias_name": null, "gene_symbol": "IRAK3", "hgnc_symbol": "IRAK3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:66582659-66648402", "ensembl_id": "ENSG00000090376" } }, "GRch38": { "90": { "location": "12:66188879-66254622", "ensembl_id": "ENSG00000090376" } } }, "hgnc_date_symbol_changed": "2002-07-17" }, "entity_type": "gene", "entity_name": "IRAK3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RNASE6PL", "FLJ10907", "bA514O12.3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21686", "gene_name": "ribonuclease T2", "omim_gene": [ "612944" ], "alias_name": null, "gene_symbol": "RNASET2", "hgnc_symbol": "RNASET2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:167342992-167370679", "ensembl_id": "ENSG00000026297" } }, "GRch38": { "90": { "location": "6:166929504-166957191", "ensembl_id": "ENSG00000026297" } } }, "hgnc_date_symbol_changed": "2003-11-26" }, "entity_type": "gene", "entity_name": "RNASET2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31349848", "19525954", "27091087", "29336640", "18545798", "15851732" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Leukoencephalopathy, cystic, without megalencephaly MIM#612951" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12831", "gene_name": "X-ray repair cross complementing 4", "omim_gene": [ "194363" ], "alias_name": [ "X-ray repair, complementing defective, repair in Chinese hamster", "DNA repair protein XRCC4" ], "gene_symbol": "XRCC4", "hgnc_symbol": "XRCC4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:82373317-82649606", "ensembl_id": "ENSG00000152422" } }, "GRch38": { "90": { "location": "5:83077498-83353787", "ensembl_id": "ENSG00000152422" } } }, "hgnc_date_symbol_changed": "1990-10-16" }, "entity_type": "gene", "entity_name": "XRCC4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25839420", "25728776" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Short stature, microcephaly, and endocrine dysfunction, MIM# 616541", "MONDO:0014686" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MICE", "MGC119078", "MGC119079" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1502", "gene_name": "caspase 14", "omim_gene": [ "605848" ], "alias_name": [ "apoptosis-related cysteine protease" ], "gene_symbol": "CASP14", "hgnc_symbol": "CASP14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:15160195-15169104", "ensembl_id": "ENSG00000105141" } }, "GRch38": { "90": { "location": "19:15049384-15058293", "ensembl_id": "ENSG00000105141" } } }, "hgnc_date_symbol_changed": "1998-11-09" }, "entity_type": "gene", "entity_name": "CASP14", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27494380", "23014340", "17515931" ], "evidence": [ "Expert Review Amber", "Expert Review" ], "phenotypes": [ "Ichthyosis, congenital, autosomal recessive 12 MIM#617320" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KLF14", "Epfn" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14530", "gene_name": "Sp6 transcription factor", "omim_gene": [ "608613" ], "alias_name": [ "epiprofin" ], "gene_symbol": "SP6", "hgnc_symbol": "SP6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:45922279-45933240", "ensembl_id": "ENSG00000189120" } }, "GRch38": { "90": { "location": "17:47844908-47855874", "ensembl_id": "ENSG00000189120" } } }, "hgnc_date_symbol_changed": "2001-02-06" }, "entity_type": "gene", "entity_name": "SP6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32167558", "18156176", "18297738", "22676574", "33652941" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Amelogenesis imperfecta, type IK, MIM# 620104" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CMD1R" ], "biotype": "protein_coding", "hgnc_id": "HGNC:143", "gene_name": "actin, alpha, cardiac muscle 1", "omim_gene": [ "102540" ], "alias_name": null, "gene_symbol": "ACTC1", "hgnc_symbol": "ACTC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:35080297-35088340", "ensembl_id": "ENSG00000159251" } }, "GRch38": { "90": { "location": "15:34788096-34796139", "ensembl_id": "ENSG00000159251" } } }, "hgnc_date_symbol_changed": "2006-08-24" }, "entity_type": "gene", "entity_name": "ACTC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 36945405" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Atrial septal defect 5 MIM#612794", "Cardiomyopathy, dilated, 1R MIM#613424", "Cardiomyopathy, hypertrophic, 11 MIM#612098", "ACTC1 related distal arthrogryposis MONDO:0019942" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ERFS", "HBS1", "HSPC276", "KIAA1038", "DKFZp434g247", "EF-1a", "eRF3c" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4834", "gene_name": "HBS1 like translational GTPase", "omim_gene": [ "612450" ], "alias_name": [ "eRF3 family member" ], "gene_symbol": "HBS1L", "hgnc_symbol": "HBS1L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:135281516-135424194", "ensembl_id": "ENSG00000112339" } }, "GRch38": { "90": { "location": "6:134960378-135103056", "ensembl_id": "ENSG00000112339" } } }, "hgnc_date_symbol_changed": "2000-02-18" }, "entity_type": "gene", "entity_name": "HBS1L", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38966981", "24288412", "30707697" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Retinal disorder MONDO:0005283" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "TSBN51", "RPC4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1080", "gene_name": "RNA polymerase III subunit D", "omim_gene": [ "187280" ], "alias_name": null, "gene_symbol": "POLR3D", "hgnc_symbol": "POLR3D", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:22102617-22112113", "ensembl_id": "ENSG00000168495" } }, "GRch38": { "90": { "location": "8:22245104-22254600", "ensembl_id": "ENSG00000168495" } } }, "hgnc_date_symbol_changed": "2003-04-04" }, "entity_type": "gene", "entity_name": "POLR3D", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "37915380" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Leukodystrophy, MONDO:0019046, POLR3D-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "XMP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3334", "gene_name": "epithelial membrane protein 2", "omim_gene": [ "602334" ], "alias_name": null, "gene_symbol": "EMP2", "hgnc_symbol": "EMP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:10622279-10674555", "ensembl_id": "ENSG00000213853" } }, "GRch38": { "90": { "location": "16:10528422-10580698", "ensembl_id": "ENSG00000213853" } } }, "hgnc_date_symbol_changed": "1997-12-05" }, "entity_type": "gene", "entity_name": "EMP2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24814193", "31508419" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "nephrotic syndrome, type 10 MONDO:0014373" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 144, "hash_id": null, "name": "Proteinuria", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "To be used in individuals with suspected nephrotic syndrome and related conditions, part of the Renal Glomerular Disease Superpanel.\r\n\r\n09/01/2020: This panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.", "status": "public", "version": "0.239", "version_created": "2026-03-12T18:51:41.043263+11:00", "relevant_disorders": [ "Proteinuria HP:0000093" ], "stats": { "number_of_genes": 88, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "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", "35850019", "29100083" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "Epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631", "Gamma-aminobutyric acid neurotransmitter disorders" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 145, "hash_id": null, "name": "Neurotransmitter Defects", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe panel contains genes associated with neurotransmitter disorders, a heterogeneous group of disorders involving defects in the metabolism of monoamines (dopamine, norepinephrine, epinephrine and serotonin), GABA and glycine. The clinical presentations were highly variable, and may include seizures, neurodevelopmental delay, movement disorders, gait abnormalities, hypotonia, autonomic features. Measurement of neurotransmitter metabolites in cerebral spinal fluid (CSF) may be helpful in delineating the metabolic defects.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Neurotransmitter disorders' panel V1.6 with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.8", "version_created": "2026-01-09T20:59:22.980216+11:00", "relevant_disorders": [ "Abnormal CSF metabolite concentration", "HP:0025454" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "beta3GalT6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17978", "gene_name": "beta-1,3-galactosyltransferase 6", "omim_gene": [ "615291" ], "alias_name": [ "beta-1,3-galactosyltransferase-6" ], "gene_symbol": "B3GALT6", "hgnc_symbol": "B3GALT6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:1167629-1170421", "ensembl_id": "ENSG00000176022" } }, "GRch38": { "90": { "location": "1:1232265-1235041", "ensembl_id": "ENSG00000176022" } } }, "hgnc_date_symbol_changed": "2002-01-09" }, "entity_type": "gene", "entity_name": "B3GALT6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23664117", "23664118" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 147, "hash_id": null, "name": "Osteogenesis Imperfecta and Osteoporosis", "disease_group": "Skeletal disorders; Endocrine disorders", "disease_sub_group": "", "description": "This panel contains genes associated with osteogenesis imperfecta and osteoporosis. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Osteogenesis imperfecta' panel V5.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.18", "version_created": "2026-02-22T14:59:29.563350+11:00", "relevant_disorders": [ "Increased susceptibility to fractures", "HP:0002659" ], "stats": { "number_of_genes": 48, "number_of_strs": 0, "number_of_regions": 0 }, "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": [ "NAD6", "ND6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7462", "gene_name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6", "omim_gene": [ "516006" ], "alias_name": [ "complex I ND6 subunit", "NADH-ubiquinone oxidoreductase chain 6" ], "gene_symbol": "MT-ND6", "hgnc_symbol": "MT-ND6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:14149-14673", "ensembl_id": "ENSG00000198695" } }, "GRch38": { "90": { "location": "MT:14149-14673", "ensembl_id": "ENSG00000198695" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-ND6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "5576045", "20019223", "21196529", "10894222", "14684687", "17535832", "19103152", "21749722", "23813926", "25356405", "14595656", "19062322", "11133798", "30741831", "21364701", "2018041" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-ND6-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "panel": { "id": 149, "hash_id": null, "name": "Optic Atrophy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and RMH and contains genes associated with isolated and complex optic atrophy.", "status": "public", "version": "1.72", "version_created": "2026-03-31T18:57:17.873049+11:00", "relevant_disorders": [ "Optic atrophy", "HP:0000648" ], "stats": { "number_of_genes": 80, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FAG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3588", "gene_name": "Fanconi anemia complementation group G", "omim_gene": [ "602956" ], "alias_name": [ "DNA repair protein XRCC9", "X-ray repair, complementing defective, in Chinese hamster, 9", "X-ray repair complementing defective repair in Chinese hamster cells 9" ], "gene_symbol": "FANCG", "hgnc_symbol": "FANCG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:35073832-35080013", "ensembl_id": "ENSG00000221829" } }, "GRch38": { "90": { "location": "9:35073835-35080016", "ensembl_id": "ENSG00000221829" } } }, "hgnc_date_symbol_changed": "1998-08-26" }, "entity_type": "gene", "entity_name": "FANCG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 152, "hash_id": null, "name": "Cancer Predisposition_Paediatric", "disease_group": "Cancer", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.133", "version_created": "2026-01-12T09:35:45.797477+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 106, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MIP-T3", "DKFZP434F124", "MIPT3", "IFT54" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17861", "gene_name": "TRAF3 interacting protein 1", "omim_gene": [ "607380" ], "alias_name": [ "microtubule interacting protein that associates with TRAF3" ], "gene_symbol": "TRAF3IP1", "hgnc_symbol": "TRAF3IP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:239229082-239309541", "ensembl_id": "ENSG00000204104" } }, "GRch38": { "90": { "location": "2:238320441-238400900", "ensembl_id": "ENSG00000204104" } } }, "hgnc_date_symbol_changed": "2004-03-12" }, "entity_type": "gene", "entity_name": "TRAF3IP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26487268", "18364699", "21945076" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Senior-Loken syndrome 9, MIM# 616629", "MONDO:0014712" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 159, "hash_id": null, "name": "Polydactyly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains genes that cause syndromic and non-syndromic polydactyly.", "status": "public", "version": "0.303", "version_created": "2026-04-23T20:20:44.540776+10:00", "relevant_disorders": [ "Polydactyly", "HP:0010442" ], "stats": { "number_of_genes": 141, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "OFIP", "MNR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29110", "gene_name": "KIAA0753", "omim_gene": [ "617112" ], "alias_name": [ "moonraker", "OFD1 and FOPNL interacting protein" ], "gene_symbol": "KIAA0753", "hgnc_symbol": "KIAA0753", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:6481468-6544247", "ensembl_id": "ENSG00000198920" } }, "GRch38": { "90": { "location": "17:6578148-6640927", "ensembl_id": "ENSG00000198920" } } }, "hgnc_date_symbol_changed": "2005-12-13" }, "entity_type": "gene", "entity_name": "KIAA0753", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29138412", "26643951", "31816441" ], "evidence": [ "Expert Review Red", "Expert list", "Expert list", "KidGen_CilioNephronop v38.1.0" ], "phenotypes": [ "Short-rib skeletal dysplasia", "Orofaciodigital syndrome XV, MIM# 617127", "Jeune ATD" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 193, "hash_id": null, "name": "Renal Ciliopathies and Nephronophthisis", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen", "status": "public", "version": "1.53", "version_created": "2026-03-19T17:14:29.802874+11:00", "relevant_disorders": [ "Abnormality of renal medullary morphology", "HP:0025361; Renal cyst", "HP:0000107" ], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LFB3", "VHNF1", "HNF1beta", "MODY5" ], "biotype": null, "hgnc_id": "HGNC:11630", "gene_name": "HNF1 homeobox B", "omim_gene": [ "189907" ], "alias_name": null, "gene_symbol": "HNF1B", "hgnc_symbol": "HNF1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:36046435-36105237", "ensembl_id": "ENSG00000108753" } }, "GRch38": { "90": { "location": "17:37686432-37745247", "ensembl_id": "ENSG00000275410" } } }, "hgnc_date_symbol_changed": "2007-08-24" }, "entity_type": "gene", "entity_name": "HNF1B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "39114399", "38044981", "29576871", "33305128", "25700310", "22432796" ], "evidence": [ "Expert Review Green", "KidGen_Cystic v38.1.0" ], "phenotypes": [ "Renal cysts and diabetes syndrome, MIM# 137920" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "SV/CNV" ], "panel": { "id": 194, "hash_id": null, "name": "Renal Macrocystic Disease", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel is developed was developed and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause macrocystic kidney disease. Many of the disorders also have a polycystic liver disease, either as the predominant phenotype or in association with primary kidney cysts.", "status": "public", "version": "1.0", "version_created": "2026-03-24T16:17:17.075108+11:00", "relevant_disorders": [ "Renal cyst", "HP:0000107" ], "stats": { "number_of_genes": 31, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ND4", "NAD4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7459", "gene_name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4", "omim_gene": [ "516003" ], "alias_name": [ "complex I ND4 subunit", "NADH-ubiquinone oxidoreductase chain 4" ], "gene_symbol": "MT-ND4", "hgnc_symbol": "MT-ND4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:10760-12137", "ensembl_id": "ENSG00000198886" } }, "GRch38": { "90": { "location": "MT:10760-12137", "ensembl_id": "ENSG00000198886" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-ND4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "12707444", "16120329", "15576045", "20502985", "27761019", "32445240", "32659360", "3201231" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-ND4-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "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": "1.412", "version_created": "2026-04-26T17:44:15.608548+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1155, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2908", "gene_name": "delta like canonical Notch ligand 1", "omim_gene": [ "606582" ], "alias_name": null, "gene_symbol": "DLL1", "hgnc_symbol": "DLL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:170591294-170599561", "ensembl_id": "ENSG00000198719" } }, "GRch38": { "90": { "location": "6:170282206-170306565", "ensembl_id": "ENSG00000198719" } } }, "hgnc_date_symbol_changed": "2000-02-11" }, "entity_type": "gene", "entity_name": "DLL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31353024" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Intellectual disability", "autism", "seizures", "variable brain abnormalities", "scoliosis" ], "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": "1.412", "version_created": "2026-04-26T17:44:15.608548+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1155, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "16E1BP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12307", "gene_name": "thyroid hormone receptor interactor 13", "omim_gene": [ "604507" ], "alias_name": [ "thyroid receptor interacting protein 13" ], "gene_symbol": "TRIP13", "hgnc_symbol": "TRIP13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:892758-919472", "ensembl_id": "ENSG00000071539" } }, "GRch38": { "90": { "location": "5:892643-919357", "ensembl_id": "ENSG00000071539" } } }, "hgnc_date_symbol_changed": "2000-01-04" }, "entity_type": "gene", "entity_name": "TRIP13", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28553959" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Mosaic variegated aneuploidy syndrome 3, MIM# 617598" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.412", "version_created": "2026-04-26T17:44:15.608548+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1155, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:773", "gene_name": "astrotactin 1", "omim_gene": [ "600904" ], "alias_name": null, "gene_symbol": "ASTN1", "hgnc_symbol": "ASTN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:176826438-177134109", "ensembl_id": "ENSG00000152092" } }, "GRch38": { "90": { "location": "1:176857302-177164973", "ensembl_id": "ENSG00000152092" } } }, "hgnc_date_symbol_changed": "2006-08-24" }, "entity_type": "gene", "entity_name": "ASTN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29706646", "27431290", "26539891" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Intellectual disability", "epilepsy", "structural brain malformations" ], "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": "1.412", "version_created": "2026-04-26T17:44:15.608548+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1155, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:14581", "gene_name": "PTEN induced putative kinase 1", "omim_gene": [ "608309" ], "alias_name": null, "gene_symbol": "PINK1", "hgnc_symbol": "PINK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:20959948-20978004", "ensembl_id": "ENSG00000158828" } }, "GRch38": { "90": { "location": "1:20633455-20651511", "ensembl_id": "ENSG00000158828" } } }, "hgnc_date_symbol_changed": "2001-02-08" }, "entity_type": "gene", "entity_name": "PINK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27604308", "15087508", "16207731", "18003639", "18524835" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Parkinson disease 6, early onset, MIM# 605909" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 203, "hash_id": null, "name": "Mitochondrial disease", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.", "status": "public", "version": "1.16", "version_created": "2026-03-13T18:22:35.610861+11:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 438, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GCP6", "KIAA1669", "DJ402G11.6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18127", "gene_name": "tubulin gamma complex associated protein 6", "omim_gene": [ "610053" ], "alias_name": [ "gamma-tubulin complex component 6" ], "gene_symbol": "TUBGCP6", "hgnc_symbol": "TUBGCP6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:50656118-50683421", "ensembl_id": "ENSG00000128159" } }, "GRch38": { "90": { "location": "22:50217689-50244992", "ensembl_id": "ENSG00000128159" } } }, "hgnc_date_symbol_changed": "2002-08-14" }, "entity_type": "gene", "entity_name": "TUBGCP6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 205, "hash_id": null, "name": "Callosome", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.593", "version_created": "2026-04-02T11:47:10.809612+11:00", "relevant_disorders": [ "Abnormal corpus callosum morphology", "HP:0001273" ], "stats": { "number_of_genes": 459, "number_of_strs": 2, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ZNF379", "CGI-89", "ZNF380" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18475", "gene_name": "zinc finger DHHC-type containing 9", "omim_gene": [ "300646" ], "alias_name": null, "gene_symbol": "ZDHHC9", "hgnc_symbol": "ZDHHC9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:128937264-128977885", "ensembl_id": "ENSG00000188706" } }, "GRch38": { "90": { "location": "X:129803288-129843909", "ensembl_id": "ENSG00000188706" } } }, "hgnc_date_symbol_changed": "2002-04-05" }, "entity_type": "gene", "entity_name": "ZDHHC9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 205, "hash_id": null, "name": "Callosome", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.593", "version_created": "2026-04-02T11:47:10.809612+11:00", "relevant_disorders": [ "Abnormal corpus callosum morphology", "HP:0001273" ], "stats": { "number_of_genes": 459, "number_of_strs": 2, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NBCn2", "NCBE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13811", "gene_name": "solute carrier family 4 member 10", "omim_gene": [ "605556" ], "alias_name": null, "gene_symbol": "SLC4A10", "hgnc_symbol": "SLC4A10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:162280843-162841792", "ensembl_id": "ENSG00000144290" } }, "GRch38": { "90": { "location": "2:161424332-161985282", "ensembl_id": "ENSG00000144290" } } }, "hgnc_date_symbol_changed": "2000-11-09" }, "entity_type": "gene", "entity_name": "SLC4A10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 37459438" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 205, "hash_id": null, "name": "Callosome", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.593", "version_created": "2026-04-02T11:47:10.809612+11:00", "relevant_disorders": [ "Abnormal corpus callosum morphology", "HP:0001273" ], "stats": { "number_of_genes": 459, "number_of_strs": 2, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "INPP5G", "PARK20" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11503", "gene_name": "synaptojanin 1", "omim_gene": [ "604297" ], "alias_name": [ "phosphoinositide 5-phosphatase", "synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1", "inositol polyphosphate-5-phosphatase G" ], "gene_symbol": "SYNJ1", "hgnc_symbol": "SYNJ1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:34001069-34100359", "ensembl_id": "ENSG00000159082" } }, "GRch38": { "90": { "location": "21:32628759-32728048", "ensembl_id": "ENSG00000159082" } } }, "hgnc_date_symbol_changed": "1999-10-14" }, "entity_type": "gene", "entity_name": "SYNJ1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 206, "hash_id": null, "name": "Regression", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.611", "version_created": "2026-04-07T13:48:08.700916+10:00", "relevant_disorders": [ "Developmental regression", "HP:0002376" ], "stats": { "number_of_genes": 442, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TACI", "CD267", "IGAD2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18153", "gene_name": "TNF receptor superfamily member 13B", "omim_gene": [ "604907" ], "alias_name": null, "gene_symbol": "TNFRSF13B", "hgnc_symbol": "TNFRSF13B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:16832849-16875432", "ensembl_id": "ENSG00000240505" } }, "GRch38": { "90": { "location": "17:16929816-16972118", "ensembl_id": "ENSG00000240505" } } }, "hgnc_date_symbol_changed": "2002-05-22" }, "entity_type": "gene", "entity_name": "TNFRSF13B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17392798", "16007086", "18981294", "16007087" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Immunodeficiency, common variable, 2, MIM# 240500" ], "mode_of_inheritance": "Other", "tags": [], "panel": { "id": 222, "hash_id": null, "name": "Predominantly Antibody Deficiency", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause predominantly antibody deficiency, including:\r\n- Agammaglobulinemia\r\n- Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia \r\n- CVID Phenotype\r\n- Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype\r\n- Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM\r\n- Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).", "status": "public", "version": "1.4", "version_created": "2025-09-11T18:11:50.640122+10:00", "relevant_disorders": [ "Decreased immunoglobulin level", "HP:0041078" ], "stats": { "number_of_genes": 58, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "UDG", "UNG1", "UNG2", "HIGM4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12572", "gene_name": "uracil DNA glycosylase", "omim_gene": [ "191525" ], "alias_name": [ "uracil-DNA glycosylase 1, uracil-DNA glycosylase 2" ], "gene_symbol": "UNG", "hgnc_symbol": "UNG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:109535379-109548797", "ensembl_id": "ENSG00000076248" } }, "GRch38": { "90": { "location": "12:109097574-109110992", "ensembl_id": "ENSG00000076248" } } }, "hgnc_date_symbol_changed": "1990-02-22" }, "entity_type": "gene", "entity_name": "UNG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 222, "hash_id": null, "name": "Predominantly Antibody Deficiency", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause predominantly antibody deficiency, including:\r\n- Agammaglobulinemia\r\n- Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia \r\n- CVID Phenotype\r\n- Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype\r\n- Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM\r\n- Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).", "status": "public", "version": "1.4", "version_created": "2025-09-11T18:11:50.640122+10:00", "relevant_disorders": [ "Decreased immunoglobulin level", "HP:0041078" ], "stats": { "number_of_genes": 58, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ARC41", "p40-ARC", "p41-ARC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:704", "gene_name": "actin related protein 2/3 complex subunit 1B", "omim_gene": [ "604223" ], "alias_name": [ "ARP2/3 protein complex subunit p41", "actin related protein 2/3 complex, subunit 1A (41 kD)" ], "gene_symbol": "ARPC1B", "hgnc_symbol": "ARPC1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:98971872-98992424", "ensembl_id": "ENSG00000130429" } }, "GRch38": { "90": { "location": "7:99374249-99394801", "ensembl_id": "ENSG00000130429" } } }, "hgnc_date_symbol_changed": "1999-08-06" }, "entity_type": "gene", "entity_name": "ARPC1B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28368018", "33679784" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease\t617718" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 223, "hash_id": null, "name": "Combined Immunodeficiency", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.", "status": "public", "version": "1.145", "version_created": "2026-03-02T21:55:19.238904+11:00", "relevant_disorders": [ "Combined immunodeficiency", "MONDO:0015131; Combined immunodeficiency", "HP:0005387" ], "stats": { "number_of_genes": 170, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "jdf2", "p528", "D15F37S1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4868", "gene_name": "HECT and RLD domain containing E3 ubiquitin protein ligase 2", "omim_gene": [ "605837" ], "alias_name": null, "gene_symbol": "HERC2", "hgnc_symbol": "HERC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:28356186-28567298", "ensembl_id": "ENSG00000128731" } }, "GRch38": { "90": { "location": "15:28111040-28322152", "ensembl_id": "ENSG00000128731" } } }, "hgnc_date_symbol_changed": "1999-01-07" }, "entity_type": "gene", "entity_name": "HERC2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23065719", "23243086", "30902390", "32571899", "27848944", "26077850", "27759030" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Mental retardation, autosomal recessive 38, MIM# 615516" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6556", "gene_name": "leucine zipper and EF-hand containing transmembrane protein 1", "omim_gene": [ "604407" ], "alias_name": [ "Mdm38 homolog (yeast)" ], "gene_symbol": "LETM1", "hgnc_symbol": "LETM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:1813206-1857974", "ensembl_id": "ENSG00000168924" } }, "GRch38": { "90": { "location": "4:1811479-1856247", "ensembl_id": "ENSG00000168924" } } }, "hgnc_date_symbol_changed": "1998-05-13" }, "entity_type": "gene", "entity_name": "LETM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36055214" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TFiiiC2-63", "TFIIIC63", "TFIIICepsilon" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4668", "gene_name": "general transcription factor IIIC subunit 5", "omim_gene": [ "604890" ], "alias_name": [ "transcription factor IIIC, 63 kD" ], "gene_symbol": "GTF3C5", "hgnc_symbol": "GTF3C5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:135906076-135933890", "ensembl_id": "ENSG00000148308" } }, "GRch38": { "90": { "location": "9:133030675-133058503", "ensembl_id": "ENSG00000148308" } } }, "hgnc_date_symbol_changed": "1999-03-16" }, "entity_type": "gene", "entity_name": "GTF3C5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38520561", "35503477" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "neurodevelopmental disorder MONDO:0700092, GTF3C5-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FRAXE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3776", "gene_name": "AF4/FMR2 family member 2", "omim_gene": [ "300806" ], "alias_name": null, "gene_symbol": "AFF2", "hgnc_symbol": "AFF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:147582139-148082193", "ensembl_id": "ENSG00000155966" } }, "GRch38": { "90": { "location": "X:148500619-149000663", "ensembl_id": "ENSG00000155966" } } }, "hgnc_date_symbol_changed": "2005-06-27" }, "entity_type": "gene", "entity_name": "AFF2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8334699", "21739600", "22773736" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Intellectual disability, X-linked, FRAXE type 309548" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GPRC1A", "mGlu1", "MGLUR1", "PPP1R85" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4593", "gene_name": "glutamate metabotropic receptor 1", "omim_gene": [ "604473" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 85" ], "gene_symbol": "GRM1", "hgnc_symbol": "GRM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:146348782-146758734", "ensembl_id": "ENSG00000152822" } }, "GRch38": { "90": { "location": "6:146027646-146437598", "ensembl_id": "ENSG00000152822" } } }, "hgnc_date_symbol_changed": "1993-10-21" }, "entity_type": "gene", "entity_name": "GRM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26308914", "22901947", "31319223", "36675067" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "autosomal recessive spinocerebellar ataxia 13 MONDO:0013905" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "bA37E23.1", "13CDNA73", "CG003" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20367", "gene_name": "FRY microtubule binding protein", "omim_gene": [ "614818" ], "alias_name": null, "gene_symbol": "FRY", "hgnc_symbol": "FRY", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:32605437-32870794", "ensembl_id": "ENSG00000073910" } }, "GRch38": { "90": { "location": "13:32031300-32299122", "ensembl_id": "ENSG00000073910" } } }, "hgnc_date_symbol_changed": "2005-11-24" }, "entity_type": "gene", "entity_name": "FRY", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 31487712", "27457812", "21937992" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Intellectual disability", "no OMIM number yet" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2717", "gene_name": "damage specific DNA binding protein 1", "omim_gene": [ "600045" ], "alias_name": null, "gene_symbol": "DDB1", "hgnc_symbol": "DDB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:61066923-61110068", "ensembl_id": "ENSG00000167986" } }, "GRch38": { "90": { "location": "11:61299451-61342596", "ensembl_id": "ENSG00000167986" } } }, "hgnc_date_symbol_changed": "1995-07-06" }, "entity_type": "gene", "entity_name": "DDB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33743206" ], "evidence": [ "Literature", "Expert Review Green" ], "phenotypes": [ "White-Kernohan syndrome, MIM# 619426" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PTD008" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30203", "gene_name": "WD repeat domain 83 opposite strand", "omim_gene": null, "alias_name": null, "gene_symbol": "WDR83OS", "hgnc_symbol": "WDR83OS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:12778885-12782170", "ensembl_id": "ENSG00000105583" } }, "GRch38": { "90": { "location": "19:12668071-12671356", "ensembl_id": "ENSG00000105583" } } }, "hgnc_date_symbol_changed": "2011-11-24" }, "entity_type": "gene", "entity_name": "WDR83OS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39471804", "30250217" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with variable familial hypercholanemia, MIM# 621016" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FHM2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:800", "gene_name": "ATPase Na+/K+ transporting subunit alpha 2", "omim_gene": [ "182340" ], "alias_name": [ "sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2" ], "gene_symbol": "ATP1A2", "hgnc_symbol": "ATP1A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:160085549-160113381", "ensembl_id": "ENSG00000018625" } }, "GRch38": { "90": { "location": "1:160115759-160143591", "ensembl_id": "ENSG00000018625" } } }, "hgnc_date_symbol_changed": "1988-05-11" }, "entity_type": "gene", "entity_name": "ATP1A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Royal Children's Hospital Neurology Department", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 259, "hash_id": null, "name": "Paroxysmal Dyskinesia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.", "status": "public", "version": "0.145", "version_created": "2026-01-09T20:58:50.808183+11:00", "relevant_disorders": [ "Paroxysmal dyskinesia", "HP:0007166" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1345", "MKS6", "JBTS9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29253", "gene_name": "coiled-coil and C2 domain containing 2A", "omim_gene": [ "612013" ], "alias_name": [ "Meckel syndrome, type 6" ], "gene_symbol": "CC2D2A", "hgnc_symbol": "CC2D2A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:15471489-15603180", "ensembl_id": "ENSG00000048342" } }, "GRch38": { "90": { "location": "4:15469865-15601557", "ensembl_id": "ENSG00000048342" } } }, "hgnc_date_symbol_changed": "2007-10-19" }, "entity_type": "gene", "entity_name": "CC2D2A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18387594", "18950740", "18513680", "18950740", "19574260", "21725307", "33486889", "30267408" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Joubert syndrome 9, MIM#612285" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TrpRS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12730", "gene_name": "tryptophanyl tRNA synthetase 2, mitochondrial", "omim_gene": [ "604733" ], "alias_name": [ "tryptophan tRNA ligase 2, mitochondrial" ], "gene_symbol": "WARS2", "hgnc_symbol": "WARS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:119573839-119683294", "ensembl_id": "ENSG00000116874" } }, "GRch38": { "90": { "location": "1:119031216-119140671", "ensembl_id": "ENSG00000116874" } } }, "hgnc_date_symbol_changed": "1999-06-11" }, "entity_type": "gene", "entity_name": "WARS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29120065", "31970218", "34890876", "28236339", "28650581", "28905505", "30920170" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Parkinsonism-dystonia 3, childhood-onset, MIM# 619738", "Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MCMT", "CXXC9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2976", "gene_name": "DNA methyltransferase 1", "omim_gene": [ "126375" ], "alias_name": null, "gene_symbol": "DNMT1", "hgnc_symbol": "DNMT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:10244021-10341962", "ensembl_id": "ENSG00000130816" } }, "GRch38": { "90": { "location": "19:10133345-10231286", "ensembl_id": "ENSG00000130816" } } }, "hgnc_date_symbol_changed": "1991-06-04" }, "entity_type": "gene", "entity_name": "DNMT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22328086, 23904686, 24727570, 25678562, 23521649, 23365052, 21532572, 27602171, 25033457, 31984424" ], "evidence": [ "Expert Review Green", "ClinGen", "Literature" ], "phenotypes": [ "Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "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": null, "publications": [ "19027335", "33996490", "12557293", "19288536", "16855203" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Cerebral creatine deficiency syndrome 2 MIM#612736" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 290, "hash_id": null, "name": "Dystonia and Chorea", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.", "status": "public", "version": "0.344", "version_created": "2026-04-06T11:07:45.734922+10:00", "relevant_disorders": [ "Dystonia", "HP:0001332; Chorea", "HP:0002072" ], "stats": { "number_of_genes": 198, "number_of_strs": 9, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:613", "gene_name": "apolipoprotein E", "omim_gene": [ "107741" ], "alias_name": null, "gene_symbol": "APOE", "hgnc_symbol": "APOE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:45409011-45412650", "ensembl_id": "ENSG00000130203" } }, "GRch38": { "90": { "location": "19:44905754-44909393", "ensembl_id": "ENSG00000130203" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "APOE", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27014949", "34058468", "33679311" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hyperlipoproteinemia, type III (MIM#617347)", "Sea-blue histiocyte disease (MIM#269600)" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 333, "hash_id": null, "name": "Familial hypercholesterolaemia", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel contains genes associated with familial hypercholestrolaemia. Please note MBS funding for familial hypercholestrolaemia covers:\r\nCharacterisation of germline variants causing familial hypercholesterolaemia (which must include the LDLR, PCSK9 and APOB genes), requested by a specialist or consultant physician, for a patient:\r\n(a) for whom no familial mutation has been identified; and\r\n(b) who has any of the following:\r\n· (i) a Dutch Lipid Clinic Network score of at least 6;\r\n· (ii) an LDL-cholesterol level of at least 6.5 mmol/L in the absence of secondary causes;\r\n· (iii) an LDL-cholesterol level of between 5.0 and 6.5 mmol/L with signs of premature or accelerated atherogenesis\r\n\r\nPlease also refer to the Dyslipidaemia panel.", "status": "public", "version": "1.0", "version_created": "2024-12-04T13:37:18.095728+11:00", "relevant_disorders": [ "Abnormal circulating cholesterol concentration", "HP:0003107" ], "stats": { "number_of_genes": 12, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RACE", "P504S" ], "biotype": "protein_coding", "hgnc_id": "HGNC:451", "gene_name": "alpha-methylacyl-CoA racemase", "omim_gene": [ "604489" ], "alias_name": null, "gene_symbol": "AMACR", "hgnc_symbol": "AMACR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:33986283-34008220", "ensembl_id": "ENSG00000242110" } }, "GRch38": { "90": { "location": "5:33986178-34008108", "ensembl_id": "ENSG00000242110" } } }, "hgnc_date_symbol_changed": "1999-10-19" }, "entity_type": "gene", "entity_name": "AMACR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "36108118", "10655068", "20821052", "18032455" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Alpha-methylacyl-CoA racemase deficiency (MIM#614307)", "Retinopathy, myelopathy, axonal or SNCV neuropathy, elevated phytanic and pristanic acids" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4816", "gene_name": "histidyl-tRNA synthetase", "omim_gene": [ "142810" ], "alias_name": [ "histidine tRNA ligase 1, cytoplasmic" ], "gene_symbol": "HARS", "hgnc_symbol": "HARS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:140052758-140071609", "ensembl_id": "ENSG00000170445" } }, "GRch38": { "90": { "location": "5:140673173-140692024", "ensembl_id": "ENSG00000170445" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "HARS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26072516" ], "evidence": [ "Victorian Clinical Genetics Services", "Royal Melbourne Hospital", "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625", "MONDO:0014711", "HMSN" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "new gene name" ], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HsT2651", "CTS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12405", "gene_name": "transthyretin", "omim_gene": [ "176300" ], "alias_name": null, "gene_symbol": "TTR", "hgnc_symbol": "TTR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:29171689-29178974", "ensembl_id": "ENSG00000118271" } }, "GRch38": { "90": { "location": "18:31591726-31599021", "ensembl_id": "ENSG00000118271" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "TTR", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31118583", "30120737", "31131842", "31111153", "30878017" ], "evidence": [ "Emory Genetics Laboratory", "UKGTN", "Illumina TruGenome Clinical Sequencing Services", "Radboud University Medical Center, Nijmegen", "Expert Review Red" ], "phenotypes": [ "Amyloidosis, hereditary, transthyretin-related 105210", "Carpal tunnel syndrome, familial\t115430", "Dystransthyretinemic hyperthyroxinemia 145680" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3098, "hash_id": null, "name": "Lymphoedema", "disease_group": "Cardiovascular disorders", "disease_sub_group": "Lymphatic Disorders", "description": "The panel contains genes associated with nonsyndromic and syndromic lymphoedema.", "status": "public", "version": "0.32", "version_created": "2026-02-06T22:04:55.315713+11:00", "relevant_disorders": [ "Lymphedema", "HP:0001004" ], "stats": { "number_of_genes": 59, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "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" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TRK", "TRKA", "MTC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8031", "gene_name": "neurotrophic receptor tyrosine kinase 1", "omim_gene": [ "191315" ], "alias_name": [ "high affinity nerve growth factor receptor" ], "gene_symbol": "NTRK1", "hgnc_symbol": "NTRK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:156785432-156851642", "ensembl_id": "ENSG00000198400" } }, "GRch38": { "90": { "location": "1:156815640-156881850", "ensembl_id": "ENSG00000198400" } } }, "hgnc_date_symbol_changed": "1991-07-18" }, "entity_type": "gene", "entity_name": "NTRK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Insensitivity to pain, congenital, with anhidrosis, 256800 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ40069", "FLJ36139", "PF22", "PCD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30492", "gene_name": "dynein axonemal assembly factor 3", "omim_gene": [ "614566" ], "alias_name": null, "gene_symbol": "DNAAF3", "hgnc_symbol": "DNAAF3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:55670031-55678090", "ensembl_id": "ENSG00000167646" } }, "GRch38": { "90": { "location": "19:55158661-55166722", "ensembl_id": "ENSG00000167646" } } }, "hgnc_date_symbol_changed": "2012-03-09" }, "entity_type": "gene", "entity_name": "DNAAF3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ciliary dyskinesia, primary, 2, 606763 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KPPS2", "PPKS2", "DPI", "DPII" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3052", "gene_name": "desmoplakin", "omim_gene": [ "125647" ], "alias_name": null, "gene_symbol": "DSP", "hgnc_symbol": "DSP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:7541808-7586950", "ensembl_id": "ENSG00000096696" } }, "GRch38": { "90": { "location": "6:7541575-7586717", "ensembl_id": "ENSG00000096696" } } }, "hgnc_date_symbol_changed": "1991-03-04" }, "entity_type": "gene", "entity_name": "DSP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ12975", "TECT2", "MKS8", "JBTS24" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25774", "gene_name": "tectonic family member 2", "omim_gene": [ "613846" ], "alias_name": [ "Meckel syndrome, type 8" ], "gene_symbol": "TCTN2", "hgnc_symbol": "TCTN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:124155660-124192948", "ensembl_id": "ENSG00000168778" } }, "GRch38": { "90": { "location": "12:123671113-123708403", "ensembl_id": "ENSG00000168778" } } }, "hgnc_date_symbol_changed": "2007-08-20" }, "entity_type": "gene", "entity_name": "TCTN2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Joubert syndrome 24" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RYR", "PPP1R137" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10483", "gene_name": "ryanodine receptor 1", "omim_gene": [ "180901" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 137" ], "gene_symbol": "RYR1", "hgnc_symbol": "RYR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:38924339-39078204", "ensembl_id": "ENSG00000196218" } }, "GRch38": { "90": { "location": "19:38433699-38587564", "ensembl_id": "ENSG00000196218" } } }, "hgnc_date_symbol_changed": "1989-12-01" }, "entity_type": "gene", "entity_name": "RYR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Minicore myopathy with external ophthalmoplegia, 255320 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "C6ST", "C6ST1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1971", "gene_name": "carbohydrate sulfotransferase 3", "omim_gene": [ "603799" ], "alias_name": [ "chondroitin 6 sulfotransferase 1" ], "gene_symbol": "CHST3", "hgnc_symbol": "CHST3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:73724123-73773322", "ensembl_id": "ENSG00000122863" } }, "GRch38": { "90": { "location": "10:71964365-72013564", "ensembl_id": "ENSG00000122863" } } }, "hgnc_date_symbol_changed": "1999-04-15" }, "entity_type": "gene", "entity_name": "CHST3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0028", "LEURS", "MGC26121", "mtLeuRS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17095", "gene_name": "leucyl-tRNA synthetase 2, mitochondrial", "omim_gene": [ "604544" ], "alias_name": [ "leucine tRNA ligase 2, mitochondrial" ], "gene_symbol": "LARS2", "hgnc_symbol": "LARS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:45429998-45590913", "ensembl_id": "ENSG00000011376" } }, "GRch38": { "90": { "location": "3:45388506-45549421", "ensembl_id": "ENSG00000011376" } } }, "hgnc_date_symbol_changed": "2003-09-01" }, "entity_type": "gene", "entity_name": "LARS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Perrault syndrome 4, 615300 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CAM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1573", "gene_name": "KRIT1, ankyrin repeat containing", "omim_gene": [ "604214" ], "alias_name": null, "gene_symbol": "KRIT1", "hgnc_symbol": "KRIT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:91828283-91875480", "ensembl_id": "ENSG00000001631" } }, "GRch38": { "90": { "location": "7:92198969-92246166", "ensembl_id": "ENSG00000001631" } } }, "hgnc_date_symbol_changed": "2005-03-17" }, "entity_type": "gene", "entity_name": "KRIT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10508515", "20301470" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Cavernous malformations of CNS and retina, 116860", "Cerebral cavernous malformations-1, 116860", "Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "founder" ], "panel": { "id": 3144, "hash_id": null, "name": "Cerebral vascular malformations", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes associated with cerebral vascular malformations, including:\r\nVein of Galen malformation\r\nCerebral vascular malformations\r\nMoyamoya disease\r\n\r\nConsider applying the Stroke and Aortopathy_Connective Tissue Disorders panels due to overlap in clinical features.\r\nWith thanks to the Genomics England PanelApp team for the original design.", "status": "public", "version": "1.12", "version_created": "2026-01-22T10:52:30.127872+11:00", "relevant_disorders": [ "Abnormal cerebral vascular morphology HP:0100659" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "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" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CRD", "LCA7", "OTX3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2383", "gene_name": "cone-rod homeobox", "omim_gene": [ "602225" ], "alias_name": [ "orthodenticle homeobox 3" ], "gene_symbol": "CRX", "hgnc_symbol": "CRX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:48322703-48346587", "ensembl_id": "ENSG00000105392" } }, "GRch38": { "90": { "location": "19:47819779-47843330", "ensembl_id": "ENSG00000105392" } } }, "hgnc_date_symbol_changed": "1998-03-25" }, "entity_type": "gene", "entity_name": "CRX", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30679166" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Cone-rod retinal dystrophy-2, 120970" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3147, "hash_id": null, "name": "Cone-rod Dystrophy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause non-syndromic cone and cone-rod dystrophies, characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. This panel was developed and is maintained by RMH, and is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.", "status": "public", "version": "0.69", "version_created": "2026-04-14T07:26:39.974051+10:00", "relevant_disorders": [ "Retinal dystrophy", "HP:0000556" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1462", "gene_name": "calcium/calmodulin dependent protein kinase II delta", "omim_gene": [ "607708" ], "alias_name": null, "gene_symbol": "CAMK2D", "hgnc_symbol": "CAMK2D", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:114372188-114683083", "ensembl_id": "ENSG00000145349" } }, "GRch38": { "90": { "location": "4:113451032-113761927", "ensembl_id": "ENSG00000145349" } } }, "hgnc_date_symbol_changed": "1993-11-24" }, "entity_type": "gene", "entity_name": "CAMK2D", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38272033" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder (MONDO#0700092), CAMK2D-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3270, "hash_id": null, "name": "Cardiomyopathy_Paediatric", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.", "status": "public", "version": "0.229", "version_created": "2026-03-31T18:53:53.165018+11:00", "relevant_disorders": [ "Cardiomyopathy", "HP:0001638;Abnormality of the myocardium", "HP:0001637" ], "stats": { "number_of_genes": 252, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5383", "gene_name": "isocitrate dehydrogenase (NADP(+)) 2, mitochondrial", "omim_gene": [ "147650" ], "alias_name": null, "gene_symbol": "IDH2", "hgnc_symbol": "IDH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:90626277-90645736", "ensembl_id": "ENSG00000182054" } }, "GRch38": { "90": { "location": "15:90083045-90102504", "ensembl_id": "ENSG00000182054" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "IDH2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24049096", "20847235" ], "evidence": [ "Expert Review Green", "South West GLH", "NHS GMS" ], "phenotypes": [ "D-2-hydroxyglutaric aciduria 2, 613657", "Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias)", "D-2-hydroxyglutaric aciduria 2" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3270, "hash_id": null, "name": "Cardiomyopathy_Paediatric", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.", "status": "public", "version": "0.229", "version_created": "2026-03-31T18:53:53.165018+11:00", "relevant_disorders": [ "Cardiomyopathy", "HP:0001638;Abnormality of the myocardium", "HP:0001637" ], "stats": { "number_of_genes": 252, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DFFRX", "FAF", "MRX99" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12632", "gene_name": "ubiquitin specific peptidase 9, X-linked", "omim_gene": [ "300072" ], "alias_name": null, "gene_symbol": "USP9X", "hgnc_symbol": "USP9X", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:40944888-41095832", "ensembl_id": "ENSG00000124486" } }, "GRch38": { "90": { "location": "X:41085635-41236579", "ensembl_id": "ENSG00000124486" } } }, "hgnc_date_symbol_changed": "1999-02-01" }, "entity_type": "gene", "entity_name": "USP9X", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26833328" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Intellectual developmental disorder 99 MIM#300919", "syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968" ], "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": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "L11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10301", "gene_name": "ribosomal protein L11", "omim_gene": [ "604175" ], "alias_name": null, "gene_symbol": "RPL11", "hgnc_symbol": "RPL11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:24018269-24022915", "ensembl_id": "ENSG00000142676" } }, "GRch38": { "90": { "location": "1:23691779-23696425", "ensembl_id": "ENSG00000142676" } } }, "hgnc_date_symbol_changed": "1998-07-23" }, "entity_type": "gene", "entity_name": "RPL11", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Diamond-Blackfan anemia 7, MIM# 612562", "Cleft palate" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DHCR14B", "TDRD18" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6518", "gene_name": "lamin B receptor", "omim_gene": [ "600024" ], "alias_name": [ "tudor domain containing 18" ], "gene_symbol": "LBR", "hgnc_symbol": "LBR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:225589204-225616627", "ensembl_id": "ENSG00000143815" } }, "GRch38": { "90": { "location": "1:225401502-225428925", "ensembl_id": "ENSG00000143815" } } }, "hgnc_date_symbol_changed": "1995-04-27" }, "entity_type": "gene", "entity_name": "LBR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "12618959", "27604308" ], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "Greenberg skeletal dysplasia MIM#215140", "Disorders of sterol biosynthesis" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3468, "hash_id": null, "name": "Miscellaneous Metabolic Disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.60", "version_created": "2026-01-15T15:39:27.439934+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 149, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11013", "gene_name": "solute carrier family 30 member 2", "omim_gene": [ "609617" ], "alias_name": null, "gene_symbol": "SLC30A2", "hgnc_symbol": "SLC30A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:26363743-26372624", "ensembl_id": "ENSG00000158014" } }, "GRch38": { "90": { "location": "1:26037252-26046133", "ensembl_id": "ENSG00000158014" } } }, "hgnc_date_symbol_changed": "1997-12-12" }, "entity_type": "gene", "entity_name": "SLC30A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17065149, 22733820, 32278324, 30450693, 28665435" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "Zinc deficiency, transient neonatal , MIM#608118", "Disorders of zinc metabolism" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3469, "hash_id": null, "name": "Metal Metabolism Disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes that cause inborn errors of molybdenum, copper, iron, manganese, zinc, selenium, and magnesium metabolism. \r\nThis panel was based on the Genomics England/NHS Genomics Medicine Service 'Iron metabolism disorders' panel. It is part of the Metabolic Disorders Superpanel.", "status": "public", "version": "0.54", "version_created": "2026-02-17T14:35:14.331246+11:00", "relevant_disorders": [ "Abnormality of iron homeostasis", "HP:0011031;Abnormal blood transition element cation concentration", "HP:0011030" ], "stats": { "number_of_genes": 51, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "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" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SBP2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30972", "gene_name": "SECIS binding protein 2", "omim_gene": [ "607693" ], "alias_name": [ "Sec insertion sequence-binding protein 2" ], "gene_symbol": "SECISBP2", "hgnc_symbol": "SECISBP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:91933421-91974557", "ensembl_id": "ENSG00000187742" } }, "GRch38": { "90": { "location": "9:89318506-89359662", "ensembl_id": "ENSG00000187742" } } }, "hgnc_date_symbol_changed": "2004-05-10" }, "entity_type": "gene", "entity_name": "SECISBP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20501692", "16228000", "22247018", "24629861", "22986150", "19602558", "21084748" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Thyroid hormone metabolism, abnormal, MIM# 609698" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3471, "hash_id": null, "name": "Congenital hypothyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Thyroid disorders", "description": "This panel contains genes associated with congenital hypothyroidism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'congenital hypothyroidism' panel V3.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.120", "version_created": "2026-04-02T11:51:29.895216+11:00", "relevant_disorders": [ "Hypothyroidism HP:0000821" ], "stats": { "number_of_genes": 63, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7765", "gene_name": "neurofibromin 1", "omim_gene": [ "613113" ], "alias_name": [ "neurofibromatosis", "von Recklinghausen disease", "Watson disease" ], "gene_symbol": "NF1", "hgnc_symbol": "NF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:29421945-29709134", "ensembl_id": "ENSG00000196712" } }, "GRch38": { "90": { "location": "17:31094927-31382116", "ensembl_id": "ENSG00000196712" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "NF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "14605872", "17668375" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "NHS GMS" ], "phenotypes": [ "Neurofibromatosis type I, MIM#162200" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "somatic" ], "panel": { "id": 3472, "hash_id": null, "name": "Mosaic skin disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.15", "version_created": "2025-11-28T10:17:48.863556+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 44, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Tasmanian Clinical Genetics Service", "slug": "tasmanian-clinical-genetics-service", "description": "Tasmanian Clinical Genetics Service" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CDMP1", "BMP14" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4220", "gene_name": "growth differentiation factor 5", "omim_gene": [ "601146" ], "alias_name": [ "cartilage-derived morphogenetic protein-1" ], "gene_symbol": "GDF5", "hgnc_symbol": "GDF5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:34021145-34042568", "ensembl_id": "ENSG00000125965" } }, "GRch38": { "90": { "location": "20:35433347-35454746", "ensembl_id": "ENSG00000125965" } } }, "hgnc_date_symbol_changed": "1997-12-05" }, "entity_type": "gene", "entity_name": "GDF5", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "9288091", "16127465", "12567410" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Brachydactyly, type A1, C, MIM# 615072", "Brachydactyly, type A2 MIM#112600", "Brachydactyly, type C, MIM# 113100", "Symphalangism, proximal, 1B, MIM# 615298" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3729, "hash_id": null, "name": "Hand and foot malformations", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.", "status": "public", "version": "0.89", "version_created": "2026-04-07T13:49:34.993963+10:00", "relevant_disorders": [ "Abnormal hand morphology", "HP:0005922; Abnormal foot morphology", "HP:0001760" ], "stats": { "number_of_genes": 101, "number_of_strs": 1, "number_of_regions": 5 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GNT-II" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7045", "gene_name": "mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase", "omim_gene": [ "602616" ], "alias_name": null, "gene_symbol": "MGAT2", "hgnc_symbol": "MGAT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:50087489-50090198", "ensembl_id": "ENSG00000168282" } }, "GRch38": { "90": { "location": "14:49620795-49623481", "ensembl_id": "ENSG00000168282" } } }, "hgnc_date_symbol_changed": "1993-02-16" }, "entity_type": "gene", "entity_name": "MGAT2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8808595", "11228641", "22105986", "33044030", "31420886" ], "evidence": [ "Expert Review Amber", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Congenital disorder of glycosylation, type IIa, MIM# 212066", "MGAT2-CDG, MONDO:0008908" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SCARMD1", "LGMD2D", "adhalin", "DMDA2", "A2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10805", "gene_name": "sarcoglycan alpha", "omim_gene": [ "600119" ], "alias_name": [ "50kD DAG", "adhalin", "limb girdle muscular dystrophy 2D" ], "gene_symbol": "SGCA", "hgnc_symbol": "SGCA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:48241575-48253292", "ensembl_id": "ENSG00000108823" } }, "GRch38": { "90": { "location": "17:50164214-50175931", "ensembl_id": "ENSG00000108823" } } }, "hgnc_date_symbol_changed": "1994-12-14" }, "entity_type": "gene", "entity_name": "SGCA", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Muscular dystrophy, limb-girdle, type 2D 608099" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "STAR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4688", "gene_name": "guanylate cyclase 2C", "omim_gene": [ "601330" ], "alias_name": [ "STA receptor", "heat stable enterotoxin receptor" ], "gene_symbol": "GUCY2C", "hgnc_symbol": "GUCY2C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:14765576-14849519", "ensembl_id": "ENSG00000070019" } }, "GRch38": { "90": { "location": "12:14612632-14696585", "ensembl_id": "ENSG00000070019" } } }, "hgnc_date_symbol_changed": "1994-04-15" }, "entity_type": "gene", "entity_name": "GUCY2C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22521417", "33883099", "31079856" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Meconium ileus, 614665 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NESP55", "NESP", "GNASXL", "GPSA", "SCG6", "SgVI" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4392", "gene_name": "GNAS complex locus", "omim_gene": [ "139320" ], "alias_name": [ "secretogranin VI", "G protein subunit alpha S" ], "gene_symbol": "GNAS", "hgnc_symbol": "GNAS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:57414773-57486247", "ensembl_id": "ENSG00000087460" } }, "GRch38": { "90": { "location": "20:58839718-58911192", "ensembl_id": "ENSG00000087460" } } }, "hgnc_date_symbol_changed": "2001-12-20" }, "entity_type": "gene", "entity_name": "GNAS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "BabySeq Category A gene" ], "phenotypes": [ "Pseudopseudohypoparathyroidism", "Pseudohypoparathyroidism" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)", "tags": [ "treatable", "endocrine" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6677", "gene_name": "lipoprotein lipase", "omim_gene": [ "609708" ], "alias_name": null, "gene_symbol": "LPL", "hgnc_symbol": "LPL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:19759228-19824769", "ensembl_id": "ENSG00000175445" } }, "GRch38": { "90": { "location": "8:19901717-19967258", "ensembl_id": "ENSG00000175445" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "LPL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Lipoprotein lipase deficiency, MIM# 238600" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "metabolic" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "WAGR", "WIT-2", "AWT1", "NPHS4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12796", "gene_name": "Wilms tumor 1", "omim_gene": [ "607102" ], "alias_name": null, "gene_symbol": "WT1", "hgnc_symbol": "WT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:32409321-32457176", "ensembl_id": "ENSG00000184937" } }, "GRch38": { "90": { "location": "11:32387775-32435630", "ensembl_id": "ENSG00000184937" } } }, "hgnc_date_symbol_changed": "1989-04-13" }, "entity_type": "gene", "entity_name": "WT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "BabySeq Category A gene", "BabySeq Category B gene" ], "phenotypes": [ "Wilms tumor, type 1, MIM#194070" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "cancer", "treatable" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PRR", "PRR1", "PVRR1", "SK-12", "HIgR", "CLPED1", "CD111", "OFC7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9706", "gene_name": "nectin cell adhesion molecule 1", "omim_gene": [ "600644" ], "alias_name": [ "nectin" ], "gene_symbol": "NECTIN1", "hgnc_symbol": "NECTIN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:119494120-119599794", "ensembl_id": "ENSG00000110400" } }, "GRch38": { "90": { "location": "11:119623408-119729084", "ensembl_id": "ENSG00000110400" } } }, "hgnc_date_symbol_changed": "2016-02-12" }, "entity_type": "gene", "entity_name": "NECTIN1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Cleft lip / palate" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TBDN100", "NATH", "FLJ13340" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30782", "gene_name": "N(alpha)-acetyltransferase 15, NatA auxiliary subunit", "omim_gene": [ "608000" ], "alias_name": null, "gene_symbol": "NAA15", "hgnc_symbol": "NAA15", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:140222609-140341187", "ensembl_id": "ENSG00000164134" } }, "GRch38": { "90": { "location": "4:139301455-139420033", "ensembl_id": "ENSG00000164134" } } }, "hgnc_date_symbol_changed": "2010-01-14" }, "entity_type": "gene", "entity_name": "NAA15", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Congenital heart disease" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ36866", "DKFZp686C1178" ], "biotype": "protein_coding", "hgnc_id": "HGNC:27375", "gene_name": "methionine sulfoxide reductase B3", "omim_gene": [ "613719" ], "alias_name": null, "gene_symbol": "MSRB3", "hgnc_symbol": "MSRB3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:65672423-65882024", "ensembl_id": "ENSG00000174099" } }, "GRch38": { "90": { "location": "12:65278643-65488244", "ensembl_id": "ENSG00000174099" } } }, "hgnc_date_symbol_changed": "2004-12-06" }, "entity_type": "gene", "entity_name": "MSRB3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Deafness, autosomal recessive" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GROS1", "LEPRECAN", "MGC117314" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19316", "gene_name": "prolyl 3-hydroxylase 1", "omim_gene": [ "610339" ], "alias_name": [ "growth suppressor 1", "procollagen-proline 3-dioxygenase" ], "gene_symbol": "P3H1", "hgnc_symbol": "P3H1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:43212006-43232755", "ensembl_id": "ENSG00000117385" } }, "GRch38": { "90": { "location": "1:42746335-42767084", "ensembl_id": "ENSG00000117385" } } }, "hgnc_date_symbol_changed": "2014-12-12" }, "entity_type": "gene", "entity_name": "P3H1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18566967", "17277775" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Osteogenesis imperfecta, type VIII, (MIM# 610915)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4126, "hash_id": null, "name": "Transplant Co-Morbidity", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma", "status": "public", "version": "0.21", "version_created": "2026-01-16T12:00:12.269232+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 278, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7010", "gene_name": "menin 1", "omim_gene": [ "613733" ], "alias_name": [ "menin" ], "gene_symbol": "MEN1", "hgnc_symbol": "MEN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:64570982-64578766", "ensembl_id": "ENSG00000133895" } }, "GRch38": { "90": { "location": "11:64803510-64811294", "ensembl_id": "ENSG00000133895" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "MEN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance" ], "phenotypes": [ "Multiple endocrine neoplasia 1, MIM# 131100" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4126, "hash_id": null, "name": "Transplant Co-Morbidity", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma", "status": "public", "version": "0.21", "version_created": "2026-01-16T12:00:12.269232+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 278, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2645", "gene_name": "cytochrome P450 family 4 subfamily F member 2", "omim_gene": [ "604426" ], "alias_name": null, "gene_symbol": "CYP4F2", "hgnc_symbol": "CYP4F2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:15988833-16008930", "ensembl_id": "ENSG00000186115" } }, "GRch38": { "90": { "location": "19:15878023-15898120", "ensembl_id": "ENSG00000186115" } } }, "hgnc_date_symbol_changed": "1998-10-07" }, "entity_type": "gene", "entity_name": "CYP4F2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25370453", "20555338", "19207028", "18250228" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Warfarin dosage sensitivity MIM# 122700" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4126, "hash_id": null, "name": "Transplant Co-Morbidity", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma", "status": "public", "version": "0.21", "version_created": "2026-01-16T12:00:12.269232+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 278, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6831", "gene_name": "mannosidase beta", "omim_gene": [ "609489" ], "alias_name": [ "beta-mannosidase A" ], "gene_symbol": "MANBA", "hgnc_symbol": "MANBA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:103552660-103682151", "ensembl_id": "ENSG00000109323" } }, "GRch38": { "90": { "location": "4:102631488-102760994", "ensembl_id": "ENSG00000109323" } } }, "hgnc_date_symbol_changed": "1990-05-25" }, "entity_type": "gene", "entity_name": "MANBA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Mannosidosis, beta, MIM#248510" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4225, "hash_id": null, "name": "Prepair 500+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.1", "version_created": "2026-04-24T17:01:18.976102+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 629, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "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", "Mackenzie's Mission", "Mackenzie's Mission" ], "phenotypes": [ "Pontocerebellar hypoplasia, type 1B, MIM# 614678" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4225, "hash_id": null, "name": "Prepair 500+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.1", "version_created": "2026-04-24T17:01:18.976102+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 629, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RbAp46" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9890", "gene_name": "RB binding protein 7, chromatin remodeling factor", "omim_gene": [ "300825" ], "alias_name": [ "G1/S transition control protein-binding protein RbAp46", "retinoblastoma-binding protein 7", "retinoblastoma-binding protein RbAp46", "histone acetyltransferase type B subunit 2", "retinoblastoma-binding protein p46" ], "gene_symbol": "RBBP7", "hgnc_symbol": "RBBP7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:16857406-16888537", "ensembl_id": "ENSG00000102054" } }, "GRch38": { "90": { "location": "X:16839283-16870414", "ensembl_id": "ENSG00000102054" } } }, "hgnc_date_symbol_changed": "1998-01-23" }, "entity_type": "gene", "entity_name": "RBBP7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39932629", "37843278", "35809576" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Infertility disorder, MONDO:0005047, RBBP7-related" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 4455, "hash_id": null, "name": "Infertility and Recurrent Pregnancy Loss", "disease_group": "", "disease_sub_group": "", "description": "Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.", "status": "public", "version": "1.149", "version_created": "2026-04-26T14:05:44.766760+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 266, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PR55-BETA", "PR52B", "B55beta" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9305", "gene_name": "protein phosphatase 2 regulatory subunit Bbeta", "omim_gene": [ "604325" ], "alias_name": [ "PP2A subunit B isoform beta" ], "gene_symbol": "PPP2R2B", "hgnc_symbol": "PPP2R2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:145967936-146464347", "ensembl_id": "ENSG00000156475" } }, "GRch38": { "90": { "location": "5:146581146-147084784", "ensembl_id": "ENSG00000156475" } } }, "hgnc_date_symbol_changed": "1993-01-25" }, "entity_type": "str", "entity_name": "PPP2R2B_SCA12_CAG", "confidence_level": "3", "penetrance": null, "publications": [ "31286011", "27864267", "33811808", "10581021" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spinocerebellar ataxia 12 MIM#604326" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CAG", "chromosome": "5", "grch37_coordinates": [ 146258292, 146258321 ], "grch38_coordinates": [ 146878729, 146878758 ], "normal_repeats": 32, "pathogenic_repeats": 51, "tags": [], "panel": { "id": 26, "hash_id": null, "name": "Early-onset Parkinson disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "2.55", "version_created": "2026-04-17T16:01:21.596122+10:00", "relevant_disorders": [ "Abnormality of extrapyramidal motor function", "HP:0002071" ], "stats": { "number_of_genes": 129, "number_of_strs": 14, "number_of_regions": 0 }, "types": [ { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "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" } ], "child_panel_ids": [] } } ] }