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GET /api/v1/entities/?format=api&page=125
{ "count": 36124, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=126", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=124", "results": [ { "gene_data": { "alias": [ "RAIDD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2340", "gene_name": "CASP2 and RIPK1 domain containing adaptor with death domain", "omim_gene": [ "603454" ], "alias_name": [ "RIP-associated ICH1/CED3-homologous protein with death domain" ], "gene_symbol": "CRADD", "hgnc_symbol": "CRADD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:94071151-94288616", "ensembl_id": "ENSG00000169372" } }, "GRch38": { "90": { "location": "12:93677375-93894840", "ensembl_id": "ENSG00000169372" } } }, "hgnc_date_symbol_changed": "1999-05-07" }, "entity_type": "gene", "entity_name": "CRADD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27773430" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Brain Malformations Flagship" ], "phenotypes": [ "Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 15, "hash_id": null, "name": "Lissencephaly and Band Heterotopia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Brain Malformations flagship, and is maintained by VCGS. It is a consensus panel used by RMH.\r\n\r\nIt contains genes associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri, either occurring in isolation or as part of a more complex disorder. The spectrum of lissencephaly ranges from absent (agyria) or decreased (pachygyria) convolutions of the cortex to less severe malformation known as subcortical band heterotopia.\r\n\r\nPlease also consider the Cobblestone Malformations panel and the broader Malformations of cortical development superpanel if features are not entirely typical.", "status": "public", "version": "1.30", "version_created": "2026-01-19T11:50:01.984105+11:00", "relevant_disorders": [ "Lissencephaly HP:0001339;Subcortical band heterotopia HP:0032409" ], "stats": { "number_of_genes": 46, "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": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian 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": [ "FBX1", "FBXO1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1591", "gene_name": "cyclin F", "omim_gene": [ "600227" ], "alias_name": null, "gene_symbol": "CCNF", "hgnc_symbol": "CCNF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:2479395-2508855", "ensembl_id": "ENSG00000162063" } }, "GRch38": { "90": { "location": "16:2429394-2458854", "ensembl_id": "ENSG00000162063" } } }, "hgnc_date_symbol_changed": "1994-05-18" }, "entity_type": "gene", "entity_name": "CCNF", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29102476", "31577344", "27080313", "28105640", "31445393", "28852778" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.49", "version_created": "2026-04-23T12:45:48.200383+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [] }, { "gene_data": { "alias": [ "EAD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2226", "gene_name": "collagen like tail subunit of asymmetric acetylcholinesterase", "omim_gene": [ "603033" ], "alias_name": [ "single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase", "collagenic tail of endplate acetylcholinesterase", "AChE Q subunit", "acetylcholinesterase-associated collagen" ], "gene_symbol": "COLQ", "hgnc_symbol": "COLQ", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:15491640-15563258", "ensembl_id": "ENSG00000206561" } }, "GRch38": { "90": { "location": "3:15450133-15521751", "ensembl_id": "ENSG00000206561" } } }, "hgnc_date_symbol_changed": "1998-09-14" }, "entity_type": "gene", "entity_name": "COLQ", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9689136", "9758617", "11865139", "32978031", "31831253" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Myasthenic syndrome, congenital, 5, MIM# 603034" ], "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": [ "KIAA0243", "LAM", "hamartin" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12362", "gene_name": "TSC complex subunit 1", "omim_gene": [ "605284" ], "alias_name": [ "hamartin" ], "gene_symbol": "TSC1", "hgnc_symbol": "TSC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:135766735-135820020", "ensembl_id": "ENSG00000165699" } }, "GRch38": { "90": { "location": "9:132891348-132944633", "ensembl_id": "ENSG00000165699" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "TSC1", "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": 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": "0.250", "version_created": "2026-04-29T19:13:12.780175+10:00", "relevant_disorders": [ "Autism", "HP:0000717" ], "stats": { "number_of_genes": 158, "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": [ "DA9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3604", "gene_name": "fibrillin 2", "omim_gene": [ "612570" ], "alias_name": [ "fibrillin 5" ], "gene_symbol": "FBN2", "hgnc_symbol": "FBN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:127593601-127994878", "ensembl_id": "ENSG00000138829" } }, "GRch38": { "90": { "location": "5:128257909-128659185", "ensembl_id": "ENSG00000138829" } } }, "hgnc_date_symbol_changed": "1991-08-21" }, "entity_type": "gene", "entity_name": "FBN2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Contractural arachnodactyly, congenital 121050", "Macular degeneration, early-onset 616118" ], "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": "1.78", "version_created": "2026-04-28T15:02:15.205532+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": [ "D22S676", "D22S750", "TC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11653", "gene_name": "transcobalamin 2", "omim_gene": [ "613441" ], "alias_name": [ "macrocytic anemia" ], "gene_symbol": "TCN2", "hgnc_symbol": "TCN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:31002825-31023265", "ensembl_id": "ENSG00000185339" } }, "GRch38": { "90": { "location": "22:30606838-30627278", "ensembl_id": "ENSG00000185339" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "TCN2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 24305960, 7980584, 7849710, 20352340, 18956254, 32841161, 33023511, 30124850" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Transcobalamin II deficiency, MIM#275350" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 56, "hash_id": null, "name": "Bone Marrow Failure", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "Bone marrow failure (BMF) refers to the decreased production of one or more major haematopoietic lineages which leads to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.", "status": "public", "version": "1.145", "version_created": "2026-04-29T13:45:06.770739+10:00", "relevant_disorders": [ "Abnormality of multiple cell lineages of the bone marrow", "HP:0012145" ], "stats": { "number_of_genes": 151, "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" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "TPO", "MPLLG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11795", "gene_name": "thrombopoietin", "omim_gene": [ "600044" ], "alias_name": [ "prepro-thrombopoietin", "megakaryocyte stimulating factor", "myeloproliferative leukemia virus oncogene ligand", "megakaryocyte growth and development factor", "MPL ligand", "megakaryocyte colony-stimulating factor", "c-mpl ligand", "thrombopoietin nirs variant 1" ], "gene_symbol": "THPO", "hgnc_symbol": "THPO", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:184089723-184095932", "ensembl_id": "ENSG00000090534" } }, "GRch38": { "90": { "location": "3:184371935-184378144", "ensembl_id": "ENSG00000090534" } } }, "hgnc_date_symbol_changed": "1994-11-04" }, "entity_type": "gene", "entity_name": "THPO", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24085763", "28559357", "29191945", "36226497" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 56, "hash_id": null, "name": "Bone Marrow Failure", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "Bone marrow failure (BMF) refers to the decreased production of one or more major haematopoietic lineages which leads to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.", "status": "public", "version": "1.145", "version_created": "2026-04-29T13:45:06.770739+10:00", "relevant_disorders": [ "Abnormality of multiple cell lineages of the bone marrow", "HP:0012145" ], "stats": { "number_of_genes": 151, "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" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ12716", "gry", "foigr" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25751", "gene_name": "trafficking protein particle complex 11", "omim_gene": [ "614138" ], "alias_name": [ "gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)" ], "gene_symbol": "TRAPPC11", "hgnc_symbol": "TRAPPC11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:184580420-184634745", "ensembl_id": "ENSG00000168538" } }, "GRch38": { "90": { "location": "4:183659267-183713594", "ensembl_id": "ENSG00000168538" } } }, "hgnc_date_symbol_changed": "2011-12-12" }, "entity_type": "gene", "entity_name": "TRAPPC11", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23830518", "26322222", "29855340", "30105108", "26912795", "27707803", "27862579", "28484880" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "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": "1.88", "version_created": "2026-04-29T19:07:54.905474+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": [ "DPCK", "NBP", "CoASY", "PPAT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29932", "gene_name": "Coenzyme A synthase", "omim_gene": [ "609855" ], "alias_name": null, "gene_symbol": "COASY", "hgnc_symbol": "COASY", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:40713485-40718295", "ensembl_id": "ENSG00000068120" } }, "GRch38": { "90": { "location": "17:42561467-42566277", "ensembl_id": "ENSG00000068120" } } }, "hgnc_date_symbol_changed": "2004-03-22" }, "entity_type": "gene", "entity_name": "COASY", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30089828", "27021474", "24360804", "35499143" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Neurodegeneration with brain iron accumulation 6\t615643", "Pontocerebellar hypoplasia, type 12\t618266" ], "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": [ "KIAA0304", "MLL2", "TRX2", "HRX2", "WBP7", "MLL1B", "MLL4", "CXXC10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15840", "gene_name": "lysine methyltransferase 2B", "omim_gene": [ "606834" ], "alias_name": [ "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4" ], "gene_symbol": "KMT2B", "hgnc_symbol": "KMT2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:36208921-36229779", "ensembl_id": "ENSG00000272333" } }, "GRch38": { "90": { "location": "19:35718019-35738878", "ensembl_id": "ENSG00000272333" } } }, "hgnc_date_symbol_changed": "2013-05-09" }, "entity_type": "gene", "entity_name": "KMT2B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29276005", "23426673", "33150406", "23665959", "37504561", "28902362", "21646717" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Dystonia 28,Childhood-onset", "DYT28(617284)", "Intellectual Developmental disorder, Autosomal dominant", "MRD68(619934)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 76, "hash_id": null, "name": "Congenital Heart Defect", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.", "status": "public", "version": "0.540", "version_created": "2026-04-29T17:20:21.794068+10:00", "relevant_disorders": [ "Abnormal heart morphology HP:0001627" ], "stats": { "number_of_genes": 254, "number_of_strs": 1, "number_of_regions": 10 }, "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": [ "KIAA1208", "MGC4170" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29670", "gene_name": "N-acetylglucosamine-1-phosphate transferase alpha and beta subunits", "omim_gene": [ "607840" ], "alias_name": null, "gene_symbol": "GNPTAB", "hgnc_symbol": "GNPTAB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:102139275-102224716", "ensembl_id": "ENSG00000111670" } }, "GRch38": { "90": { "location": "12:101745497-101830938", "ensembl_id": "ENSG00000111670" } } }, "hgnc_date_symbol_changed": "2005-09-11" }, "entity_type": "gene", "entity_name": "GNPTAB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24891900", "24060719" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "GNPTAB-mucolipidosis MONDO:0100122", "Mucolipidosis II alpha/beta, MIM# 252500", "Mucolipidosis III alpha/beta, MIM# 252600" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 93, "hash_id": null, "name": "Craniosynostosis", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH. It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.", "status": "public", "version": "1.85", "version_created": "2026-04-07T13:46:55.940488+10:00", "relevant_disorders": [ "Craniosynostosis HP:0001363" ], "stats": { "number_of_genes": 105, "number_of_strs": 0, "number_of_regions": 2 }, "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": [ "GRCC10", "C10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29521", "gene_name": "chromosome 12 open reading frame 57", "omim_gene": [ "615140" ], "alias_name": [ "gene rich cluster C10 gene" ], "gene_symbol": "C12orf57", "hgnc_symbol": "C12orf57", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:7052141-7055166", "ensembl_id": "ENSG00000111678" } }, "GRch38": { "90": { "location": "12:6942978-6946003", "ensembl_id": "ENSG00000111678" } } }, "hgnc_date_symbol_changed": "2006-01-27" }, "entity_type": "gene", "entity_name": "C12orf57", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "29383837", "31853307" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Temtamy syndrome MIM#218340" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 115, "hash_id": null, "name": "Hydrocephalus_Ventriculomegaly", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.", "status": "public", "version": "0.134", "version_created": "2026-01-28T12:49:29.963583+11:00", "relevant_disorders": [ "Hydrocephalus", "HP:0000238; Ventriculomegaly", "HP:0002119" ], "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0693", "CREST" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15592", "gene_name": "SS18L1, nBAF chromatin remodeling complex subunit", "omim_gene": [ "606472" ], "alias_name": [ "calcium-responsive transactivator" ], "gene_symbol": "SS18L1", "hgnc_symbol": "SS18L1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:60718822-60757540", "ensembl_id": "ENSG00000184402" } }, "GRch38": { "90": { "location": "20:62143795-62182484", "ensembl_id": "ENSG00000184402" } } }, "hgnc_date_symbol_changed": "2001-04-26" }, "entity_type": "gene", "entity_name": "SS18L1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25888396", "24360741", "23708140", "30976389" ], "evidence": [ "Expert Review Amber", "Expert Review" ], "phenotypes": [ "amyotrophic lateral sclerosis (MONDO:0004976)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 126, "hash_id": null, "name": "Incidentalome", "disease_group": "", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).", "status": "public", "version": "0.433", "version_created": "2026-03-25T17:03:27.624542+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 161, "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": [] }, { "gene_data": { "alias": [ "HNPP", "GAS3", "Sp110" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9118", "gene_name": "peripheral myelin protein 22", "omim_gene": [ "601097" ], "alias_name": null, "gene_symbol": "PMP22", "hgnc_symbol": "PMP22", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:15133095-15168643", "ensembl_id": "ENSG00000109099" } }, "GRch38": { "90": { "location": "17:15229777-15265326", "ensembl_id": "ENSG00000109099" } } }, "hgnc_date_symbol_changed": "1992-11-05" }, "entity_type": "gene", "entity_name": "PMP22", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32356557", "32412171", "31777123", "32719652" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Charcot-Marie-Tooth disease, type 1A, MIM# 118220", "Charcot-Marie-Tooth disease, type 1E, MIM# 118300", "Dejerine-Sottas disease, MIM# 145900", "Neuropathy, recurrent, with pressure palsies 162500", "Roussy-Levy syndrome 180800" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [ "SV/CNV" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "THO2", "dJ506G2.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19073", "gene_name": "THO complex 2", "omim_gene": [ "300395" ], "alias_name": null, "gene_symbol": "THOC2", "hgnc_symbol": "THOC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:122734412-122866906", "ensembl_id": "ENSG00000125676" } }, "GRch38": { "90": { "location": "X:123600561-123733056", "ensembl_id": "ENSG00000125676" } } }, "hgnc_date_symbol_changed": "2002-12-09" }, "entity_type": "gene", "entity_name": "THOC2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26166480", "32116545", "29851191", "32960281" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mental retardation, X-linked 12/35 MIM#300957" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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:4079", "gene_name": "gamma-aminobutyric acid type A receptor alpha5 subunit", "omim_gene": [ "137142" ], "alias_name": [ "GABA(A) receptor, alpha 5" ], "gene_symbol": "GABRA5", "hgnc_symbol": "GABRA5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:27111510-27194354", "ensembl_id": "ENSG00000186297" } }, "GRch38": { "90": { "location": "15:26866363-26949207", "ensembl_id": "ENSG00000186297" } } }, "hgnc_date_symbol_changed": "1992-08-07" }, "entity_type": "gene", "entity_name": "GABRA5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31056671", "29961870" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 79", "OMIM #618559" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "ATPIB", "ML-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13533", "gene_name": "ATPase phospholipid transporting 8A2", "omim_gene": [ "605870" ], "alias_name": null, "gene_symbol": "ATP8A2", "hgnc_symbol": "ATP8A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:25946209-26599989", "ensembl_id": "ENSG00000132932" } }, "GRch38": { "90": { "location": "13:25372071-26025851", "ensembl_id": "ENSG00000132932" } } }, "hgnc_date_symbol_changed": "2000-09-25" }, "entity_type": "gene", "entity_name": "ATP8A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22892528", "31612321" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "Nav1.6", "NaCh6", "PN4", "CerIII", "CIAT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10596", "gene_name": "sodium voltage-gated channel alpha subunit 8", "omim_gene": [ "600702" ], "alias_name": null, "gene_symbol": "SCN8A", "hgnc_symbol": "SCN8A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:51984050-52206648", "ensembl_id": "ENSG00000196876" } }, "GRch38": { "90": { "location": "12:51590266-51812864", "ensembl_id": "ENSG00000196876" } } }, "hgnc_date_symbol_changed": "1995-08-23" }, "entity_type": "gene", "entity_name": "SCN8A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "31625145", "29726066", "27098556", "28702509", "16236810", "31904124", "31887642", "31675620", "30615093" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Developmental and epileptic encephalopathy 13, MIM#614558, dominant and recessive", "Myoclonus, familial, 2, MIM# 618364", "paroxysmal kinesigenic dyskinesias", "Cognitive impairment with or without cerebellar ataxia, MIM# 614306" ], "mode_of_inheritance": "BOTH monoallelic and 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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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:11598", "gene_name": "T-box 20", "omim_gene": [ "606061" ], "alias_name": null, "gene_symbol": "TBX20", "hgnc_symbol": "TBX20", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:35242042-35293758", "ensembl_id": "ENSG00000164532" } }, "GRch38": { "90": { "location": "7:35202430-35254147", "ensembl_id": "ENSG00000164532" } } }, "hgnc_date_symbol_changed": "2000-08-31" }, "entity_type": "gene", "entity_name": "TBX20", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17668378", "19762328", "33585493", "29089047" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Atrial septal defect 4, MIM# 611363" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "nexilin", "NELIN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29557", "gene_name": "nexilin F-actin binding protein", "omim_gene": [ "613121" ], "alias_name": null, "gene_symbol": "NEXN", "hgnc_symbol": "NEXN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:78354198-78409580", "ensembl_id": "ENSG00000162614" } }, "GRch38": { "90": { "location": "1:77888513-77943895", "ensembl_id": "ENSG00000162614" } } }, "hgnc_date_symbol_changed": "2004-01-09" }, "entity_type": "gene", "entity_name": "NEXN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33947203", "33949776", "35166435", "32058062" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cardiomyopathy, dilated, 2M, autosomal recessive, MIM# 621261", "Cardiomyopathy, dilated 1CC - MIM#613122" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "BCNG-1", "HAC-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4845", "gene_name": "hyperpolarization activated cyclic nucleotide gated potassium channel 1", "omim_gene": [ "602780" ], "alias_name": null, "gene_symbol": "HCN1", "hgnc_symbol": "HCN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:45259349-45696253", "ensembl_id": "ENSG00000164588" } }, "GRch38": { "90": { "location": "5:45254950-45696498", "ensembl_id": "ENSG00000164588" } } }, "hgnc_date_symbol_changed": "1998-08-20" }, "entity_type": "gene", "entity_name": "HCN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24747641", "30351409", "30351409" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Developmental and epileptic encephalopathy 24, MIM# 615871", "Generalized epilepsy with febrile seizures plus, type 10, MIM# 618482" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "ATIII", "MGC22579" ], "biotype": "protein_coding", "hgnc_id": "HGNC:775", "gene_name": "serpin family C member 1", "omim_gene": [ "107300" ], "alias_name": [ "antithrombin III", "signal peptide antithrombin part 1", "coding sequence signal peptide antithrombin part 1", "antithrombin (aa 375-432)" ], "gene_symbol": "SERPINC1", "hgnc_symbol": "SERPINC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:173872947-173886516", "ensembl_id": "ENSG00000117601" } }, "GRch38": { "90": { "location": "1:173903804-173917378", "ensembl_id": "ENSG00000117601" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "SERPINC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31359133", "30356112", "23910795", "28317092", "29747524", "11018075", "14590998" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "hereditary antithrombin deficiency MONDO:0013144", "Thrombophilia 7 due to antithrombin III deficiency, MIM#613118" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "KIAA0083" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2939", "gene_name": "DNA replication helicase/nuclease 2", "omim_gene": [ "601810" ], "alias_name": null, "gene_symbol": "DNA2", "hgnc_symbol": "DNA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:70173821-70231879", "ensembl_id": "ENSG00000138346" } }, "GRch38": { "90": { "location": "10:68414064-68472121", "ensembl_id": "ENSG00000138346" } } }, "hgnc_date_symbol_changed": "2008-01-08" }, "entity_type": "gene", "entity_name": "DNA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24389050", "31045292", "23352259", "25635128", "28554558", "37133451" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Rothmund-Thomson syndrome, type 4, MIM# 620819", "Seckel syndrome 8, MIM#615807", "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "HOGA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8091", "gene_name": "ornithine aminotransferase", "omim_gene": [ "613349" ], "alias_name": [ "Ornithine aminotransferase", "ornithine aminotransferase precursor", "gyrate atrophy" ], "gene_symbol": "OAT", "hgnc_symbol": "OAT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:126085872-126107545", "ensembl_id": "ENSG00000065154" } }, "GRch38": { "90": { "location": "10:124397303-124418976", "ensembl_id": "ENSG00000065154" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "OAT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "1618792", "2220818", "3339136", "3417397", "2916581", "1737786", "33463379" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "P2Y8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15524", "gene_name": "P2Y receptor family member 8", "omim_gene": [ "300525" ], "alias_name": null, "gene_symbol": "P2RY8", "hgnc_symbol": "P2RY8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:1581465-1656000", "ensembl_id": "ENSG00000182162" } }, "GRch38": { "90": { "location": "X:1462572-1537107", "ensembl_id": "ENSG00000182162" } } }, "hgnc_date_symbol_changed": "2001-06-25" }, "entity_type": "gene", "entity_name": "P2RY8", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34889940" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Systemic lupus erythematosus, MONDO:0007915, P2RY8-related" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "SUG1", "p45/SUG", "TBP10", "p45", "S8", "TRIP1", "SUG-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9552", "gene_name": "proteasome 26S subunit, ATPase 5", "omim_gene": [ "601681" ], "alias_name": null, "gene_symbol": "PSMC5", "hgnc_symbol": "PSMC5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:61904512-61909379", "ensembl_id": "ENSG00000087191" } }, "GRch38": { "90": { "location": "17:63827152-63832026", "ensembl_id": "ENSG00000087191" } } }, "hgnc_date_symbol_changed": "1995-12-08" }, "entity_type": "gene", "entity_name": "PSMC5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33057194", "38776958", "38293138" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Yu-Kury neurodevelopmental syndrome, MIM# 621565" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "dJ186O1.1", "DDDD", "EMRE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25055", "gene_name": "single-pass membrane protein with aspartate rich tail 1", "omim_gene": [ "615588" ], "alias_name": [ "essential MCU regulator" ], "gene_symbol": "SMDT1", "hgnc_symbol": "SMDT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:42475695-42480288", "ensembl_id": "ENSG00000183172" } }, "GRch38": { "90": { "location": "22:42079691-42084284", "ensembl_id": "ENSG00000183172" } } }, "hgnc_date_symbol_changed": "2013-03-08" }, "entity_type": "gene", "entity_name": "SMDT1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "37454773" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Mitochondrial disease, MONDO:0044970, SMDT1-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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "BAM22", "AP105A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:554", "gene_name": "adaptor related protein complex 1 beta 1 subunit", "omim_gene": [ "600157" ], "alias_name": null, "gene_symbol": "AP1B1", "hgnc_symbol": "AP1B1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:29723669-29819168", "ensembl_id": "ENSG00000100280" } }, "GRch38": { "90": { "location": "22:29327680-29423179", "ensembl_id": "ENSG00000100280" } } }, "hgnc_date_symbol_changed": "2000-09-01" }, "entity_type": "gene", "entity_name": "AP1B1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31630791, 31630788, 33452671, 33349978, 35144013, 37657632, 32969855" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Ichthyosiform erythroderma, corneal involvement, and hearing loss MONDO:0009440" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 153, "hash_id": null, "name": "Palmoplantar Keratoderma and Erythrokeratoderma", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.", "status": "public", "version": "0.144", "version_created": "2026-03-08T22:20:02.332483+11:00", "relevant_disorders": [ "Palmoplantar keratoderma", "HP:0000982; Erythrokeratoderma", "MONDO:0019270" ], "stats": { "number_of_genes": 73, "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" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CGI-58", "NCIE2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21396", "gene_name": "abhydrolase domain containing 5", "omim_gene": [ "604780" ], "alias_name": null, "gene_symbol": "ABHD5", "hgnc_symbol": "ABHD5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:43731605-43775863", "ensembl_id": "ENSG00000011198" } }, "GRch38": { "90": { "location": "3:43690113-43734371", "ensembl_id": "ENSG00000011198" } } }, "hgnc_date_symbol_changed": "2003-06-16" }, "entity_type": "gene", "entity_name": "ABHD5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "16181472" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Chanarin-Dorfman syndrome (MIM#275630)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 153, "hash_id": null, "name": "Palmoplantar Keratoderma and Erythrokeratoderma", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.", "status": "public", "version": "0.144", "version_created": "2026-03-08T22:20:02.332483+11:00", "relevant_disorders": [ "Palmoplantar keratoderma", "HP:0000982; Erythrokeratoderma", "MONDO:0019270" ], "stats": { "number_of_genes": 73, "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" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FBLN4", "UPH1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3219", "gene_name": "EGF containing fibulin extracellular matrix protein 2", "omim_gene": [ "604633" ], "alias_name": [ "fibulin 4" ], "gene_symbol": "EFEMP2", "hgnc_symbol": "EFEMP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:65633912-65641063", "ensembl_id": "ENSG00000172638" } }, "GRch38": { "90": { "location": "11:65866441-65873592", "ensembl_id": "ENSG00000172638" } } }, "hgnc_date_symbol_changed": "2000-03-01" }, "entity_type": "gene", "entity_name": "EFEMP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Cutis laxa, autosomal recessive, type IB MIM# 614437" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 162, "hash_id": null, "name": "Pulmonary Fibrosis_Interstitial Lung Disease", "disease_group": "Respiratory disorders", "disease_sub_group": "", "description": "This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.", "status": "public", "version": "1.11", "version_created": "2026-04-28T14:26:42.495816+10:00", "relevant_disorders": [ "Pulmonary fibrosis", "HP:0002206; Abnormal pulmonary interstitial morphology", "HP:0006530" ], "stats": { "number_of_genes": 98, "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" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Cav3.2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1395", "gene_name": "calcium voltage-gated channel subunit alpha1 H", "omim_gene": [ "607904" ], "alias_name": null, "gene_symbol": "CACNA1H", "hgnc_symbol": "CACNA1H", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:1203241-1271771", "ensembl_id": "ENSG00000196557" } }, "GRch38": { "90": { "location": "16:1153121-1221772", "ensembl_id": "ENSG00000196557" } } }, "hgnc_date_symbol_changed": "1999-01-08" }, "entity_type": "gene", "entity_name": "CACNA1H", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27729216", "25907736", "31126930" ], "evidence": [ "Expert Review Green", "KidGen_AldoHypertension v38.1.0" ], "phenotypes": [ "Hyperaldosteronism, familial, type IV MIM#617027", "MONDO:0014875" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 190, "hash_id": null, "name": "Hypertension and Aldosterone disorders", "disease_group": "Renal and urinary tract disorders; Endocrine disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hypertension and aldosterone disorders. \r\n\r\nThis panel was created and is maintained by the KidGen Collaborative. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Extreme early-onset hypertension' panel V1.23, with all discrepancies reviewed and resolved (January 2026).", "status": "public", "version": "1.18", "version_created": "2026-01-08T17:00:09.030229+11:00", "relevant_disorders": [ "Hypertension", "HP:0000822; Abnormal circulating aldosterone", "HP:0040085" ], "stats": { "number_of_genes": 24, "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": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MEK2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6842", "gene_name": "mitogen-activated protein kinase kinase 2", "omim_gene": [ "601263" ], "alias_name": null, "gene_symbol": "MAP2K2", "hgnc_symbol": "MAP2K2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:4090319-4124126", "ensembl_id": "ENSG00000126934" } }, "GRch38": { "90": { "location": "19:4090321-4124129", "ensembl_id": "ENSG00000126934" } } }, "hgnc_date_symbol_changed": "1993-11-05" }, "entity_type": "gene", "entity_name": "MAP2K2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "20358587", "16439621", "18042262" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cardiofaciocutaneous syndrome 4, MIM# 615280" ], "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": "1.414", "version_created": "2026-04-29T19:08:58.015652+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1157, "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": [ "FGE", "UNQ3037" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20376", "gene_name": "sulfatase modifying factor 1", "omim_gene": [ "607939" ], "alias_name": null, "gene_symbol": "SUMF1", "hgnc_symbol": "SUMF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:3742498-4508965", "ensembl_id": "ENSG00000144455" } }, "GRch38": { "90": { "location": "3:3700814-4467281", "ensembl_id": "ENSG00000144455" } } }, "hgnc_date_symbol_changed": "2004-04-30" }, "entity_type": "gene", "entity_name": "SUMF1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36980153", "36959582" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Multiple sulfatase deficiency MIM#272200" ], "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": "1.414", "version_created": "2026-04-29T19:08:58.015652+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1157, "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": [ "SCEH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3151", "gene_name": "enoyl-CoA hydratase, short chain 1", "omim_gene": [ "602292" ], "alias_name": [ "short chain enoyl-CoA hydratase" ], "gene_symbol": "ECHS1", "hgnc_symbol": "ECHS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:135175984-135187193", "ensembl_id": "ENSG00000127884" } }, "GRch38": { "90": { "location": "10:133362480-133373689", "ensembl_id": "ENSG00000127884" } } }, "hgnc_date_symbol_changed": "1996-12-17" }, "entity_type": "gene", "entity_name": "ECHS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 29575569", "35098523" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277" ], "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": "1.414", "version_created": "2026-04-29T19:08:58.015652+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1157, "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": [ "CPT1-L", "L-CPT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2328", "gene_name": "carnitine palmitoyltransferase 1A", "omim_gene": [ "600528" ], "alias_name": null, "gene_symbol": "CPT1A", "hgnc_symbol": "CPT1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:68522088-68611878", "ensembl_id": "ENSG00000110090" } }, "GRch38": { "90": { "location": "11:68754620-68844410", "ensembl_id": "ENSG00000110090" } } }, "hgnc_date_symbol_changed": "1995-05-30" }, "entity_type": "gene", "entity_name": "CPT1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25778941", "12189492", "23430932" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Literature", "NHS GMS" ], "phenotypes": [ "CPT deficiency, hepatic, type IA MIM#255120" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "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": "1.23", "version_created": "2026-04-30T15:32:02.669324+10:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 439, "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": [ "B8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7685", "gene_name": "NADH:ubiquinone oxidoreductase subunit A2", "omim_gene": [ "602137" ], "alias_name": [ "complex I B8 subunit" ], "gene_symbol": "NDUFA2", "hgnc_symbol": "NDUFA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:140018325-140027370", "ensembl_id": "ENSG00000131495" } }, "GRch38": { "90": { "location": "5:140638740-140647785", "ensembl_id": "ENSG00000131495" } } }, "hgnc_date_symbol_changed": "1996-08-30" }, "entity_type": "gene", "entity_name": "NDUFA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28857146", "32154054", "18513682" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235" ], "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": null }, { "gene_data": { "alias": [ "bA387M24.3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21624", "gene_name": "kinesin light chain 4", "omim_gene": null, "alias_name": null, "gene_symbol": "KLC4", "hgnc_symbol": "KLC4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:43008515-43042837", "ensembl_id": "ENSG00000137171" } }, "GRch38": { "90": { "location": "6:43040777-43075099", "ensembl_id": "ENSG00000137171" } } }, "hgnc_date_symbol_changed": "2005-09-13" }, "entity_type": "gene", "entity_name": "KLC4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26423925" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy, MIM# 621129" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": [] }, { "gene_data": { "alias": [ "71-7A", "JBTS10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2567", "gene_name": "OFD1, centriole and centriolar satellite protein", "omim_gene": [ "300170" ], "alias_name": null, "gene_symbol": "OFD1", "hgnc_symbol": "OFD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:13752832-13787480", "ensembl_id": "ENSG00000046651" } }, "GRch38": { "90": { "location": "X:13734745-13769353", "ensembl_id": "ENSG00000046651" } } }, "hgnc_date_symbol_changed": "1998-10-01" }, "entity_type": "gene", "entity_name": "OFD1", "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": [ "p62", "p60", "p62B", "A170" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11280", "gene_name": "sequestosome 1", "omim_gene": [ "601530" ], "alias_name": null, "gene_symbol": "SQSTM1", "hgnc_symbol": "SQSTM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:179233388-179265078", "ensembl_id": "ENSG00000161011" } }, "GRch38": { "90": { "location": "5:179806398-179838078", "ensembl_id": "ENSG00000161011" } } }, "hgnc_date_symbol_changed": "2000-06-13" }, "entity_type": "gene", "entity_name": "SQSTM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27545679" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": [ "HERA-B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3424", "gene_name": "Era like 12S mitochondrial rRNA chaperone 1", "omim_gene": [ "607435" ], "alias_name": null, "gene_symbol": "ERAL1", "hgnc_symbol": "ERAL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:27181956-27188085", "ensembl_id": "ENSG00000132591" } }, "GRch38": { "90": { "location": "17:28854938-28861067", "ensembl_id": "ENSG00000132591" } } }, "hgnc_date_symbol_changed": "1999-11-19" }, "entity_type": "gene", "entity_name": "ERAL1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28449065" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Perrault syndrome 6, MIM#\t617565" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 209, "hash_id": null, "name": "Deafness_IsolatedAndComplex", "disease_group": "Hearing and ear disorders", "disease_sub_group": "", "description": "This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.361", "version_created": "2026-04-11T11:20:22.713350+10:00", "relevant_disorders": [ "Hearing impairment", "HP:0000365" ], "stats": { "number_of_genes": 348, "number_of_strs": 1, "number_of_regions": 2 }, "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": [ "FLJ13096" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25784", "gene_name": "DDB1 and CUL4 associated factor 17", "omim_gene": [ "612515" ], "alias_name": [ "Woodhouse-Sakati syndrome" ], "gene_symbol": "DCAF17", "hgnc_symbol": "DCAF17", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:172290727-172341562", "ensembl_id": "ENSG00000115827" } }, "GRch38": { "90": { "location": "2:171434217-171485052", "ensembl_id": "ENSG00000115827" } } }, "hgnc_date_symbol_changed": "2009-07-17" }, "entity_type": "gene", "entity_name": "DCAF17", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "19026396", "20507343", "35002959", "34877714", "34732557", "34590781" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Woodhouse-Sakati syndrome, MIM# 241080" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 209, "hash_id": null, "name": "Deafness_IsolatedAndComplex", "disease_group": "Hearing and ear disorders", "disease_sub_group": "", "description": "This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.361", "version_created": "2026-04-11T11:20:22.713350+10:00", "relevant_disorders": [ "Hearing impairment", "HP:0000365" ], "stats": { "number_of_genes": 348, "number_of_strs": 1, "number_of_regions": 2 }, "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": [ "KIAA0389" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7605", "gene_name": "myosin VI", "omim_gene": [ "600970" ], "alias_name": null, "gene_symbol": "MYO6", "hgnc_symbol": "MYO6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:76458909-76629254", "ensembl_id": "ENSG00000196586" } }, "GRch38": { "90": { "location": "6:75749192-75919537", "ensembl_id": "ENSG00000196586" } } }, "hgnc_date_symbol_changed": "1996-04-04" }, "entity_type": "gene", "entity_name": "MYO6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24105371", "11468689", "25999546", "25227905", "18348273", "27171474" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Deafness Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Deafness, autosomal dominant 22, MIM# 606346", "Deafness, autosomal recessive 37, MIM# 607821" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 209, "hash_id": null, "name": "Deafness_IsolatedAndComplex", "disease_group": "Hearing and ear disorders", "disease_sub_group": "", "description": "This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.361", "version_created": "2026-04-11T11:20:22.713350+10:00", "relevant_disorders": [ "Hearing impairment", "HP:0000365" ], "stats": { "number_of_genes": 348, "number_of_strs": 1, "number_of_regions": 2 }, "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": [ "KIAA1082", "NET22" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1337", "gene_name": "lysine demethylase 3B", "omim_gene": [ "609373" ], "alias_name": null, "gene_symbol": "KDM3B", "hgnc_symbol": "KDM3B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:137688285-137772717", "ensembl_id": "ENSG00000120733" } }, "GRch38": { "90": { "location": "5:138352596-138437028", "ensembl_id": "ENSG00000120733" } } }, "hgnc_date_symbol_changed": "2009-04-06" }, "entity_type": "gene", "entity_name": "KDM3B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30929739" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Diets-Jongmans syndrome, MIM# 618846", "Intellectual disability", "short stature", "deafness" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 209, "hash_id": null, "name": "Deafness_IsolatedAndComplex", "disease_group": "Hearing and ear disorders", "disease_sub_group": "", "description": "This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.361", "version_created": "2026-04-11T11:20:22.713350+10:00", "relevant_disorders": [ "Hearing impairment", "HP:0000365" ], "stats": { "number_of_genes": 348, "number_of_strs": 1, "number_of_regions": 2 }, "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": [ "MYBP-C", "FHC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7551", "gene_name": "myosin binding protein C, cardiac", "omim_gene": [ "600958" ], "alias_name": null, "gene_symbol": "MYBPC3", "hgnc_symbol": "MYBPC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:47352957-47374253", "ensembl_id": "ENSG00000134571" } }, "GRch38": { "90": { "location": "11:47331397-47352702", "ensembl_id": "ENSG00000134571" } } }, "hgnc_date_symbol_changed": "1995-05-30" }, "entity_type": "gene", "entity_name": "MYBPC3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance" ], "phenotypes": [ "Cardiomyopathy, dilated, 1MM, MIM# 615396", "Cardiomyopathy, hypertrophic, 4, MIM# 115197", "Left ventricular noncompaction 10, MIM# 615396" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 221, "hash_id": null, "name": "Additional findings_Adult", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.", "status": "public", "version": "2.0", "version_created": "2026-03-16T10:56:03.168206+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 136, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "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": null }, { "gene_data": { "alias": [ "HCA4", "MAGEG1", "MAGEL3", "NSE3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7677", "gene_name": "NSE3 homolog, SMC5-SMC6 complex component", "omim_gene": [ "608243" ], "alias_name": null, "gene_symbol": "NSMCE3", "hgnc_symbol": "NSMCE3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:29560353-29562033", "ensembl_id": "ENSG00000185115" } }, "GRch38": { "90": { "location": "15:29264992-29269829", "ensembl_id": "ENSG00000185115" } } }, "hgnc_date_symbol_changed": "2015-11-19" }, "entity_type": "gene", "entity_name": "NSMCE3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27427983", "40728043", "33741030" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "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": "1.147", "version_created": "2026-04-28T14:29:47.878410+10:00", "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": [ "FHR-4", "FHR4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16979", "gene_name": "complement factor H related 4", "omim_gene": [ "605337" ], "alias_name": null, "gene_symbol": "CFHR4", "hgnc_symbol": "CFHR4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:196819371-196888102", "ensembl_id": "ENSG00000134365" } }, "GRch38": { "90": { "location": "1:196850241-196918972", "ensembl_id": "ENSG00000134365" } } }, "hgnc_date_symbol_changed": "2006-02-28" }, "entity_type": "gene", "entity_name": "CFHR4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 224, "hash_id": null, "name": "Complement Deficiencies", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains all the genes that are associated with complement deficiencies.\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\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": "1.2", "version_created": "2025-10-30T13:50:05.331358+11:00", "relevant_disorders": [ "Abnormality of complement system", "HP:0005339" ], "stats": { "number_of_genes": 34, "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3530", "gene_name": "coagulation factor XII", "omim_gene": [ "610619" ], "alias_name": null, "gene_symbol": "F12", "hgnc_symbol": "F12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:176829141-176836577", "ensembl_id": "ENSG00000131187" } }, "GRch38": { "90": { "location": "5:177402140-177409576", "ensembl_id": "ENSG00000131187" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "F12", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "26193639", "16638441", "17381464", "21849258", "17186468", "19178938", "30463937", "23994767" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Angioedema, hereditary, 3, MIM# 610618" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "founder" ], "panel": { "id": 226, "hash_id": null, "name": "Hereditary angioedema", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This 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). It is currently maintained by VCGS.", "status": "public", "version": "1.11", "version_created": "2025-09-09T18:38:39.926214+10:00", "relevant_disorders": [ "Angioedema", "HP:0100665" ], "stats": { "number_of_genes": 7, "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" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NFE1B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4171", "gene_name": "GATA binding protein 2", "omim_gene": [ "137295" ], "alias_name": null, "gene_symbol": "GATA2", "hgnc_symbol": "GATA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:128198270-128212028", "ensembl_id": "ENSG00000179348" } }, "GRch38": { "90": { "location": "3:128479427-128493185", "ensembl_id": "ENSG00000179348" } } }, "hgnc_date_symbol_changed": "1992-11-03" }, "entity_type": "gene", "entity_name": "GATA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26395816", "27169477", "29493060", "30564229", "31350183", "33410496", "33684095", "34040617" ], "evidence": [ "Expert Review Green", "Expert list", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "GATA2 deficiency with susceptibility to MDS/AML (MONDO:0042982)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "treatable" ], "panel": { "id": 229, "hash_id": null, "name": "Disorders of immune dysregulation", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\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": "1.43", "version_created": "2026-04-06T13:01:39.255117+10:00", "relevant_disorders": [ "Immune dysregulation", "HP:0002958" ], "stats": { "number_of_genes": 118, "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": [ "RNASEHI", "RNHIA", "RNHL", "AGS4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18518", "gene_name": "ribonuclease H2 subunit A", "omim_gene": [ "606034" ], "alias_name": null, "gene_symbol": "RNASEH2A", "hgnc_symbol": "RNASEH2A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:12917394-12924452", "ensembl_id": "ENSG00000104889" } }, "GRch38": { "90": { "location": "19:12802063-12813638", "ensembl_id": "ENSG00000104889" } } }, "hgnc_date_symbol_changed": "2002-06-05" }, "entity_type": "gene", "entity_name": "RNASEH2A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Aicardi-Goutieres syndrome 4, MIM#\t610333" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\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 Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "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": [ "SRM160", "POP101", "MGC39488" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16638", "gene_name": "serine and arginine repetitive matrix 1", "omim_gene": [ "605975" ], "alias_name": [ "Ser/Arg-related nuclear matrix protein", "plenty of prolines 101-like" ], "gene_symbol": "SRRM1", "hgnc_symbol": "SRRM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:24958207-24999758", "ensembl_id": "ENSG00000133226" } }, "GRch38": { "90": { "location": "1:24631716-24673267", "ensembl_id": "ENSG00000133226" } } }, "hgnc_date_symbol_changed": "2001-09-24" }, "entity_type": "gene", "entity_name": "SRRM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41145827" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, SRRM1-related" ], "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": "1.780", "version_created": "2026-04-30T15:03:16.542762+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2529, "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": [ "MLRQ", "CI-9k" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7687", "gene_name": "NDUFA4, mitochondrial complex associated", "omim_gene": [ "603833" ], "alias_name": [ "complex I 9kDa subunit", "NADH-ubiquinone oxidoreductase MLRQ subunit" ], "gene_symbol": "NDUFA4", "hgnc_symbol": "NDUFA4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:10971578-10979883", "ensembl_id": "ENSG00000189043" } }, "GRch38": { "90": { "location": "7:10931951-10940256", "ensembl_id": "ENSG00000189043" } } }, "hgnc_date_symbol_changed": "1996-08-30" }, "entity_type": "gene", "entity_name": "NDUFA4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39967265" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "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": "1.780", "version_created": "2026-04-30T15:03:16.542762+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2529, "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": [ "CDG1N" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30220", "gene_name": "RFT1 homolog", "omim_gene": [ "611908" ], "alias_name": [ "congenital disorder of glycosylation 1N" ], "gene_symbol": "RFT1", "hgnc_symbol": "RFT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:53122499-53164478", "ensembl_id": "ENSG00000163933" } }, "GRch38": { "90": { "location": "3:53088483-53130462", "ensembl_id": "ENSG00000163933" } } }, "hgnc_date_symbol_changed": "2005-01-19" }, "entity_type": "gene", "entity_name": "RFT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18313027", "19701946", "19856127", "23111317", "30071302", "29923091", "27927990", "26892341" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Congenital disorder of glycosylation, type In, MIM# 612015", "RFT1-CDG, MONDO:0012783" ], "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": "1.780", "version_created": "2026-04-30T15:03:16.542762+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2529, "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": [ "IFCR", "gp280" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2548", "gene_name": "cubilin", "omim_gene": [ "602997" ], "alias_name": [ "intrinsic factor-cobalamin receptor" ], "gene_symbol": "CUBN", "hgnc_symbol": "CUBN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:16865963-17171830", "ensembl_id": "ENSG00000107611" } }, "GRch38": { "90": { "location": "10:16823964-17129831", "ensembl_id": "ENSG00000107611" } } }, "hgnc_date_symbol_changed": "1998-11-02" }, "entity_type": "gene", "entity_name": "CUBN", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [ "Megaloblastic anemia-1, Finnish type, MIM#261100", "Proteinuria" ], "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": "1.780", "version_created": "2026-04-30T15:03:16.542762+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2529, "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": [ "PI4KII", "DKFZP761G1923", "PIK42A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30031", "gene_name": "phosphatidylinositol 4-kinase type 2 alpha", "omim_gene": [ "609763" ], "alias_name": null, "gene_symbol": "PI4K2A", "hgnc_symbol": "PI4K2A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:99344131-99436191", "ensembl_id": "ENSG00000155252" } }, "GRch38": { "90": { "location": "10:97640686-97676434", "ensembl_id": "ENSG00000155252" } } }, "hgnc_date_symbol_changed": "2007-08-02" }, "entity_type": "gene", "entity_name": "PI4K2A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30564627", "35880319", "19581584" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, MIM# 620732" ], "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": "1.780", "version_created": "2026-04-30T15:03:16.542762+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2529, "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": [ "SCO-spondin", "KIAA0543", "FLJ36112" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21998", "gene_name": "SCO-spondin", "omim_gene": [ "617356" ], "alias_name": [ "subcommissural organ spondin", "SCO protein, thrombospondin domain containing" ], "gene_symbol": "SSPO", "hgnc_symbol": "SSPO", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:149473131-149531068", "ensembl_id": "ENSG00000197558" } }, "GRch38": { "90": { "location": "7:149776042-149833979", "ensembl_id": "ENSG00000197558" } } }, "hgnc_date_symbol_changed": "2005-11-25" }, "entity_type": "gene", "entity_name": "SSPO", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 41077560" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, SSPOP-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "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": "1.780", "version_created": "2026-04-30T15:03:16.542762+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2529, "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": [ "KIAA0311", "mAKAP", "AKAP100", "PRKA6", "ADAP6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:376", "gene_name": "A-kinase anchoring protein 6", "omim_gene": [ "604691" ], "alias_name": [ "protein kinase A anchoring protein 6" ], "gene_symbol": "AKAP6", "hgnc_symbol": "AKAP6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:32798479-33300567", "ensembl_id": "ENSG00000151320" } }, "GRch38": { "90": { "location": "14:32329273-32837681", "ensembl_id": "ENSG00000151320" } } }, "hgnc_date_symbol_changed": "1999-09-16" }, "entity_type": "gene", "entity_name": "AKAP6", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28600779" ], "evidence": [ "Expert Review Amber", "Genetic Health Queensland", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, AKAP6-related" ], "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": "1.780", "version_created": "2026-04-30T15:03:16.542762+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2529, "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": [ "UNQ6077", "FLJ39207", "KIAA0268", "TANGO", "TANGO1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24008", "gene_name": "MIA family member 3, ER export factor", "omim_gene": [ "613455" ], "alias_name": [ "C219 reactive peptide", "transport and golgi organization" ], "gene_symbol": "MIA3", "hgnc_symbol": "MIA3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:222791428-222841354", "ensembl_id": "ENSG00000154305" } }, "GRch38": { "90": { "location": "1:222618086-222668012", "ensembl_id": "ENSG00000154305" } } }, "hgnc_date_symbol_changed": "2006-07-25" }, "entity_type": "gene", "entity_name": "MIA3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32101163", "33778321", "40948380", "40119123" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.444", "version_created": "2026-04-30T17:18:26.299482+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 639, "number_of_strs": 4, "number_of_regions": 7 }, "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": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ABS", "MGC8828" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18674", "gene_name": "DEAD-box helicase 41", "omim_gene": [ "608170" ], "alias_name": null, "gene_symbol": "DDX41", "hgnc_symbol": "DDX41", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:176938578-176944470", "ensembl_id": "ENSG00000183258" } }, "GRch38": { "90": { "location": "5:177511577-177517469", "ensembl_id": "ENSG00000183258" } } }, "hgnc_date_symbol_changed": "2003-06-13" }, "entity_type": "gene", "entity_name": "DDX41", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39453476" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Bone dysplasia, ichthyosis, and dysmorphism" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.444", "version_created": "2026-04-30T17:18:26.299482+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 639, "number_of_strs": 4, "number_of_regions": 7 }, "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": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4083", "gene_name": "gamma-aminobutyric acid type A receptor beta3 subunit", "omim_gene": [ "137192" ], "alias_name": [ "GABA(A) receptor, beta 3" ], "gene_symbol": "GABRB3", "hgnc_symbol": "GABRB3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:26788693-27184686", "ensembl_id": "ENSG00000166206" } }, "GRch38": { "90": { "location": "15:26543546-26939539", "ensembl_id": "ENSG00000166206" } } }, "hgnc_date_symbol_changed": "1991-06-05" }, "entity_type": "gene", "entity_name": "GABRB3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "37647766" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy 43 MIM#617113" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [ "AYP1", "AGS3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24116", "gene_name": "ribonuclease H2 subunit C", "omim_gene": [ "610330" ], "alias_name": [ "Aicardi-Goutieres syndrome 3" ], "gene_symbol": "RNASEH2C", "hgnc_symbol": "RNASEH2C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:65482367-65488418", "ensembl_id": "ENSG00000172922" } }, "GRch38": { "90": { "location": "11:65714896-65720947", "ensembl_id": "ENSG00000172922" } } }, "hgnc_date_symbol_changed": "2006-08-17" }, "entity_type": "gene", "entity_name": "RNASEH2C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20131292", "23322642" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Aicardi-Goutieres syndrome 3 MIM#610329" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "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": "0.346", "version_created": "2026-04-29T13:58:21.830729+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": [ "NKX6B", "GTX", "NKX6.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19321", "gene_name": "NK6 homeobox 2", "omim_gene": [ "605955" ], "alias_name": null, "gene_symbol": "NKX6-2", "hgnc_symbol": "NKX6-2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:134598297-134599556", "ensembl_id": "ENSG00000148826" } }, "GRch38": { "90": { "location": "10:132783179-132786052", "ensembl_id": "ENSG00000148826" } } }, "hgnc_date_symbol_changed": "2002-10-03" }, "entity_type": "gene", "entity_name": "NKX6-2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30285346", "28575651", "28969374" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MIM#617560" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "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": "0.346", "version_created": "2026-04-29T13:58:21.830729+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": null }, { "gene_data": { "alias": [ "EIF-2Balpha", "EIF-2B", "EIF2BA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3257", "gene_name": "eukaryotic translation initiation factor 2B subunit alpha", "omim_gene": [ "606686" ], "alias_name": null, "gene_symbol": "EIF2B1", "hgnc_symbol": "EIF2B1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:124104953-124118313", "ensembl_id": "ENSG00000111361" } }, "GRch38": { "90": { "location": "12:123620406-123633766", "ensembl_id": "ENSG00000111361" } } }, "hgnc_date_symbol_changed": "1991-03-04" }, "entity_type": "gene", "entity_name": "EIF2B1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Leukoencephalopathy with vanishing white matter, MIM#\t603896" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 298, "hash_id": null, "name": "Leukodystrophy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.", "status": "public", "version": "0.394", "version_created": "2026-04-07T13:49:15.516142+10:00", "relevant_disorders": [ "Leukodystrophy", "HP:0002415; Abnormal cerebral white matter morphology", "HP:0002500; Abnormal CNS myelination", "HP:0011400" ], "stats": { "number_of_genes": 262, "number_of_strs": 3, "number_of_regions": 1 }, "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:6522", "gene_name": "lecithin-cholesterol acyltransferase", "omim_gene": [ "606967" ], "alias_name": [ "phosphatidylcholine--sterol O-acyltransferase" ], "gene_symbol": "LCAT", "hgnc_symbol": "LCAT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:67973653-67978034", "ensembl_id": "ENSG00000213398" } }, "GRch38": { "90": { "location": "16:67939750-67944131", "ensembl_id": "ENSG00000213398" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "LCAT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30720493", "6624548" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Fish-eye disease MIM#136120", "Norum disease MIM#245900", "Disorders of high density lipoprotein metabolism" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 332, "hash_id": null, "name": "Dyslipidaemia", "disease_group": "Endocrine disorders; Cardiovascular disorders", "disease_sub_group": "", "description": "This panel contains genes that cause dyslipidaemia, abnormal amount of lipids (e.g. triglycerides, cholesterol and/or fat phospholipids). It contains all the genes that cause hyperlipidaemias. It was developed for use by the Royal Melbourne Hospital endocrine genetics clinic.", "status": "public", "version": "0.51", "version_created": "2026-04-03T15:42:30.681985+11:00", "relevant_disorders": [ "Abnormal circulating lipid concentration", "HP:0003119" ], "stats": { "number_of_genes": 29, "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": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3239", "gene_name": "early growth response 2", "omim_gene": [ "129010" ], "alias_name": [ "Krox-20 homolog, Drosophila" ], "gene_symbol": "EGR2", "hgnc_symbol": "EGR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:64571756-64679660", "ensembl_id": "ENSG00000122877" } }, "GRch38": { "90": { "location": "10:62811996-62919900", "ensembl_id": "ENSG00000122877" } } }, "hgnc_date_symbol_changed": "1988-08-31" }, "entity_type": "gene", "entity_name": "EGR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "11523566", "31852952" ], "evidence": [ "Victorian Clinical Genetics Services", "Royal Melbourne Hospital", "Expert Review Green", "Expert Review Green", "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Charcot-Marie-Tooth disease, type 1D 607678 AD", "Dejerine-Sottas disease 145900 AD, AR", "Hypomyelinating neuropathy, congenital, 1 605253 AD, AR" ], "mode_of_inheritance": "BOTH monoallelic and 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": [ "RIF1", "FLJ11269" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30299", "gene_name": "ligand dependent nuclear receptor interacting factor 1", "omim_gene": [ "615354" ], "alias_name": [ "receptor interacting factor 1" ], "gene_symbol": "LRIF1", "hgnc_symbol": "LRIF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:111489807-111506701", "ensembl_id": "ENSG00000121931" } }, "GRch38": { "90": { "location": "1:110947185-110964079", "ensembl_id": "ENSG00000121931" } } }, "hgnc_date_symbol_changed": "2011-04-15" }, "entity_type": "gene", "entity_name": "LRIF1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32467133" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Facioscapulohumeral muscular dystrophy MONDO:0001347" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "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": [ "FBL4", "FBL5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13601", "gene_name": "F-box and leucine rich repeat protein 4", "omim_gene": [ "605654" ], "alias_name": null, "gene_symbol": "FBXL4", "hgnc_symbol": "FBXL4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:99316420-99395849", "ensembl_id": "ENSG00000112234" } }, "GRch38": { "90": { "location": "6:98868538-98948006", "ensembl_id": "ENSG00000112234" } } }, "hgnc_date_symbol_changed": "2000-09-27" }, "entity_type": "gene", "entity_name": "FBXL4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (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": [ "GS27", "Bos1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4431", "gene_name": "golgi SNAP receptor complex member 2", "omim_gene": [ "604027" ], "alias_name": null, "gene_symbol": "GOSR2", "hgnc_symbol": "GOSR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:45000483-45105003", "ensembl_id": "ENSG00000108433" } }, "GRch38": { "90": { "location": "17:46923075-46975524", "ensembl_id": "ENSG00000108433" } } }, "hgnc_date_symbol_changed": "1999-04-23" }, "entity_type": "gene", "entity_name": "GOSR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Epilepsy, progressive myoclonic 6, 614018 (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": [ "DALRD1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9870", "gene_name": "arginyl-tRNA synthetase", "omim_gene": [ "107820" ], "alias_name": [ "arginine tRNA ligase 1, cytoplasmic" ], "gene_symbol": "RARS", "hgnc_symbol": "RARS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:167913450-167946304", "ensembl_id": "ENSG00000113643" } }, "GRch38": { "90": { "location": "5:168486445-168519299", "ensembl_id": "ENSG00000113643" } } }, "hgnc_date_symbol_changed": "1996-10-26" }, "entity_type": "gene", "entity_name": "RARS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Leukodystrophy, hypomyelinating, 9, 616140 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2652", "gene_name": "cytochrome P450 family 7 subfamily B member 1", "omim_gene": [ "603711" ], "alias_name": null, "gene_symbol": "CYP7B1", "hgnc_symbol": "CYP7B1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:65500320-65711318", "ensembl_id": "ENSG00000172817" } }, "GRch38": { "90": { "location": "8:64587763-64798761", "ensembl_id": "ENSG00000172817" } } }, "hgnc_date_symbol_changed": "1999-06-02" }, "entity_type": "gene", "entity_name": "CYP7B1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Bile acid synthesis defect, congenital, 3, 613812 (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": [ "Nav1.5", "LQT3", "HB1", "HBBD", "PFHB1", "IVF", "HB2", "HH1", "SSS1", "CDCD2", "CMPD2", "ICCD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10593", "gene_name": "sodium voltage-gated channel alpha subunit 5", "omim_gene": [ "600163" ], "alias_name": [ "long QT syndrome 3" ], "gene_symbol": "SCN5A", "hgnc_symbol": "SCN5A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:38589548-38691164", "ensembl_id": "ENSG00000183873" } }, "GRch38": { "90": { "location": "3:38548057-38649673", "ensembl_id": "ENSG00000183873" } } }, "hgnc_date_symbol_changed": "1992-04-10" }, "entity_type": "gene", "entity_name": "SCN5A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30356112", "29579189", "28294644", "16684018" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Atrial fibrillation, familial, 10 MIM#614022" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3141, "hash_id": null, "name": "Stroke", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.", "status": "public", "version": "1.48", "version_created": "2026-03-31T17:20:59.161732+11:00", "relevant_disorders": [ "Stroke", "HP:0001297" ], "stats": { "number_of_genes": 75, "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": [] }, { "gene_data": { "alias": [ "ALK3", "CD292" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1076", "gene_name": "bone morphogenetic protein receptor type 1A", "omim_gene": [ "601299" ], "alias_name": null, "gene_symbol": "BMPR1A", "hgnc_symbol": "BMPR1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:88516407-88692595", "ensembl_id": "ENSG00000107779" } }, "GRch38": { "90": { "location": "10:86756601-86932838", "ensembl_id": "ENSG00000107779" } } }, "hgnc_date_symbol_changed": "1994-12-12" }, "entity_type": "gene", "entity_name": "BMPR1A", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28505269", "34794894", "31769494", "20363875" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Primary ovarian insufficiency" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3166, "hash_id": null, "name": "Primary Ovarian Insufficiency_Premature Ovarian Failure", "disease_group": "Endocrine disorders", "disease_sub_group": "Gonadal and sex development disorders", "description": "This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.", "status": "public", "version": "0.414", "version_created": "2026-04-13T17:24:24.650771+10:00", "relevant_disorders": [ "Premature ovarian insufficiency", "HP:0008209" ], "stats": { "number_of_genes": 164, "number_of_strs": 2, "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": "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": [] }, { "gene_data": { "alias": [ "MGC12676", "KIAA1297", "SPEGalpha", "SPEGbeta", "BPEG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16901", "gene_name": "SPEG complex locus", "omim_gene": [ "615950" ], "alias_name": null, "gene_symbol": "SPEG", "hgnc_symbol": "SPEG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:220299568-220363009", "ensembl_id": "ENSG00000072195" } }, "GRch38": { "90": { "location": "2:219434846-219498287", "ensembl_id": "ENSG00000072195" } } }, "hgnc_date_symbol_changed": "2006-04-27" }, "entity_type": "gene", "entity_name": "SPEG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32925938", "33794647" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Dilated cardiomyopathy", "centronuclear myopathy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": "0.231", "version_created": "2026-04-28T11:37:58.412234+10:00", "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:443", "gene_name": "ALS2, alsin Rho guanine nucleotide exchange factor", "omim_gene": [ "606352" ], "alias_name": [ "alsin" ], "gene_symbol": "ALS2", "hgnc_symbol": "ALS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:202565277-202645912", "ensembl_id": "ENSG00000003393" } }, "GRch38": { "90": { "location": "2:201700554-201781189", "ensembl_id": "ENSG00000003393" } } }, "hgnc_date_symbol_changed": "1992-11-19" }, "entity_type": "gene", "entity_name": "ALS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Amyotrophic lateral sclerosis" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NPHP9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13387", "gene_name": "NIMA related kinase 8", "omim_gene": [ "609799" ], "alias_name": null, "gene_symbol": "NEK8", "hgnc_symbol": "NEK8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:27052915-27070473", "ensembl_id": "ENSG00000160602" } }, "GRch38": { "90": { "location": "17:28725897-28743455", "ensembl_id": "ENSG00000160602" } } }, "hgnc_date_symbol_changed": "2004-10-20" }, "entity_type": "gene", "entity_name": "NEK8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33131162", "23418306", "26862157", "26697755", "26967905", "23274954", "31633649" ], "evidence": [ "Expert Review Green", "BabySeq Category C gene" ], "phenotypes": [ "Renal-hepatic-pancreatic dysplasia 2, MIM# 615415", "MONDO:0014174" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DCT1", "DMT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10908", "gene_name": "solute carrier family 11 member 2", "omim_gene": [ "600523" ], "alias_name": null, "gene_symbol": "SLC11A2", "hgnc_symbol": "SLC11A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:51373184-51422349", "ensembl_id": "ENSG00000110911" } }, "GRch38": { "90": { "location": "12:50979401-51028566", "ensembl_id": "ENSG00000110911" } } }, "hgnc_date_symbol_changed": "1995-12-19" }, "entity_type": "gene", "entity_name": "SLC11A2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Anemia, hypochromic microcytic" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12591", "gene_name": "uroporphyrinogen decarboxylase", "omim_gene": [ "613521" ], "alias_name": null, "gene_symbol": "UROD", "hgnc_symbol": "UROD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:45477819-45481247", "ensembl_id": "ENSG00000126088" } }, "GRch38": { "90": { "location": "1:45012147-45015575", "ensembl_id": "ENSG00000126088" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "UROD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Porphyria, hepatoerythropoietic" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RP11-479E16.1", "FLJ31204", "FAAH-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26440", "gene_name": "fatty acid amide hydrolase 2", "omim_gene": [ "300654" ], "alias_name": null, "gene_symbol": "FAAH2", "hgnc_symbol": "FAAH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:57313139-57515629", "ensembl_id": "ENSG00000165591" } }, "GRch38": { "90": { "location": "X:57286706-57489196", "ensembl_id": "ENSG00000165591" } } }, "hgnc_date_symbol_changed": "2006-11-24" }, "entity_type": "gene", "entity_name": "FAAH2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Autism spectrum disorder" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "U5-15kD", "DIM1", "HsT161", "DIB1", "SNRNP15" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30551", "gene_name": "thioredoxin like 4A", "omim_gene": [ "611595" ], "alias_name": [ "similar to S. pombe dim1+" ], "gene_symbol": "TXNL4A", "hgnc_symbol": "TXNL4A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:77732867-77793949", "ensembl_id": "ENSG00000141759" } }, "GRch38": { "90": { "location": "18:79970811-80033949", "ensembl_id": "ENSG00000141759" } } }, "hgnc_date_symbol_changed": "2004-08-12" }, "entity_type": "gene", "entity_name": "TXNL4A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25434003" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Burn-McKeown syndrome, MIM# 608572", "Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "SV/CNV", "5'UTR" ], "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": "0.318", "version_created": "2026-04-27T11:53:17.890231+10:00", "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4135", "gene_name": "galactose-1-phosphate uridylyltransferase", "omim_gene": [ "606999" ], "alias_name": null, "gene_symbol": "GALT", "hgnc_symbol": "GALT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:34638130-34651032", "ensembl_id": "ENSG00000213930" } }, "GRch38": { "90": { "location": "9:34638133-34651035", "ensembl_id": "ENSG00000213930" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "GALT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Galactosaemia, MIM#230400" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 3400, "hash_id": null, "name": "Liver Failure_Paediatric", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause liver failure in children.\r\n\r\nPlease also consider using the Cholestasis panel if clinically indicated.", "status": "public", "version": "1.33", "version_created": "2026-01-08T17:48:33.703909+11:00", "relevant_disorders": [ "Liver failure", "HP:0001399" ], "stats": { "number_of_genes": 68, "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": [ "TRX1", "HRX", "ALL-1", "HTRX1", "CXXC7", "MLL1A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7132", "gene_name": "lysine methyltransferase 2A", "omim_gene": [ "159555" ], "alias_name": null, "gene_symbol": "KMT2A", "hgnc_symbol": "KMT2A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:118307205-118397539", "ensembl_id": "ENSG00000118058" } }, "GRch38": { "90": { "location": "11:118436490-118526832", "ensembl_id": "ENSG00000118058" } } }, "hgnc_date_symbol_changed": "2013-05-09" }, "entity_type": "gene", "entity_name": "KMT2A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22795537", "25810209", "29574747", "33783954" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Wiedemann-Steiner syndrome", "OMIM #605130" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3631, "hash_id": null, "name": "Growth failure", "disease_group": "", "disease_sub_group": "", "description": "This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.", "status": "public", "version": "1.107", "version_created": "2026-04-30T15:03:50.139368+10:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 5 }, "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": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "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:8772", "gene_name": "phosphodiesterase 10A", "omim_gene": [ "610652" ], "alias_name": [ "cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A" ], "gene_symbol": "PDE10A", "hgnc_symbol": "PDE10A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:165740776-166400091", "ensembl_id": "ENSG00000112541" } }, "GRch38": { "90": { "location": "6:165327287-165986603", "ensembl_id": "ENSG00000112541" } } }, "hgnc_date_symbol_changed": "1999-07-30" }, "entity_type": "gene", "entity_name": "PDE10A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27058446" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Dyskinesia, limb and orofacial, infantile-onset, MIM#616921", "Striatal degeneration, autosomal dominant, MIM#616922" ], "mode_of_inheritance": "BOTH monoallelic and 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": "1.576", "version_created": "2026-04-29T19:01:52.053429+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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12592", "gene_name": "uroporphyrinogen III synthase", "omim_gene": [ "606938" ], "alias_name": [ "congenital erythropoietic porphyria" ], "gene_symbol": "UROS", "hgnc_symbol": "UROS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:127477146-127511817", "ensembl_id": "ENSG00000188690" } }, "GRch38": { "90": { "location": "10:125784980-125823248", "ensembl_id": "ENSG00000188690" } } }, "hgnc_date_symbol_changed": "1991-09-13" }, "entity_type": "gene", "entity_name": "UROS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34187847", "34828434", "15065102" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Porphyria, congenital erythropoietic - MIM#263700", "hydrops fetalis", "multiple congenital anomalies" ], "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": "1.576", "version_created": "2026-04-29T19:01:52.053429+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": [ "FAAP250" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23168", "gene_name": "Fanconi anemia complementation group M", "omim_gene": [ "609644" ], "alias_name": null, "gene_symbol": "FANCM", "hgnc_symbol": "FANCM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:45605143-45670093", "ensembl_id": "ENSG00000187790" } }, "GRch38": { "90": { "location": "14:45135940-45200890", "ensembl_id": "ENSG00000187790" } } }, "hgnc_date_symbol_changed": "2005-09-01" }, "entity_type": "gene", "entity_name": "FANCM", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Fanconi anaemia" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "refuted" ], "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": "1.576", "version_created": "2026-04-29T19:01:52.053429+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": [ "KIAA1823", "MGC14797", "CENP-31" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18145", "gene_name": "PHD finger protein 6", "omim_gene": [ "300414" ], "alias_name": [ "centromere protein 31" ], "gene_symbol": "PHF6", "hgnc_symbol": "PHF6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:133507283-133562820", "ensembl_id": "ENSG00000156531" } }, "GRch38": { "90": { "location": "X:134373253-134428791", "ensembl_id": "ENSG00000156531" } } }, "hgnc_date_symbol_changed": "2002-02-28" }, "entity_type": "gene", "entity_name": "PHF6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32399860" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Borjeson-Forssman-Lehmann syndrome, OMIM:301900" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3764, "hash_id": null, "name": "Severe early-onset obesity", "disease_group": "Endocrine disorders", "disease_sub_group": "", "description": "This panel contains genes associated with syndromic and non-syndromic causes of severe, early-onset obesity (weight >3 standard deviations above the mean, with onset before the age of 5 years).\r\n\r\nIf other growth parameters are affected, please consider the Overgrowth and the Macrocephaly_Megalencephaly panels.", "status": "public", "version": "1.32", "version_created": "2026-04-20T20:39:13.285624+10:00", "relevant_disorders": [ "Obesity", "HP:0001513" ], "stats": { "number_of_genes": 59, "number_of_strs": 0, "number_of_regions": 3 }, "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": [ "JTK1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12440", "gene_name": "tyrosine kinase 2", "omim_gene": [ "176941" ], "alias_name": null, "gene_symbol": "TYK2", "hgnc_symbol": "TYK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:10461209-10491352", "ensembl_id": "ENSG00000105397" } }, "GRch38": { "90": { "location": "19:10350529-10380676", "ensembl_id": "ENSG00000105397" } } }, "hgnc_date_symbol_changed": "1990-09-10" }, "entity_type": "gene", "entity_name": "TYK2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17088085", "26304966", "34569645", "32537443" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Immunodeficiency 35, MIM #611521" ], "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": [ "MGC13453", "N33", "OST3A", "MRT7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30242", "gene_name": "tumor suppressor candidate 3", "omim_gene": [ "601385" ], "alias_name": [ "oligosaccharyltransferase 3 homolog A (S. cerevisiae)", "Magnesium uptake/transporter TUSC3" ], "gene_symbol": "TUSC3", "hgnc_symbol": "TUSC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:15274724-15624158", "ensembl_id": "ENSG00000104723" } }, "GRch38": { "90": { "location": "8:15417215-15766649", "ensembl_id": "ENSG00000104723" } } }, "hgnc_date_symbol_changed": "2004-01-20" }, "entity_type": "gene", "entity_name": "TUSC3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18452889", "18455129", "21739581", "27148795", "31606977", "28397838", "18452889", "23825019" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Intellectual developmental disorder, autosomal recessive 7 MIM#611093" ], "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": [ "DKFZp547M236", "ZnT-10", "ZRC1", "ZNT8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25355", "gene_name": "solute carrier family 30 member 10", "omim_gene": [ "611146" ], "alias_name": [ "zinc transporter 8" ], "gene_symbol": "SLC30A10", "hgnc_symbol": "SLC30A10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:219858769-220131989", "ensembl_id": "ENSG00000196660" } }, "GRch38": { "90": { "location": "1:219685427-219958647", "ensembl_id": "ENSG00000196660" } } }, "hgnc_date_symbol_changed": "2005-09-06" }, "entity_type": "gene", "entity_name": "SLC30A10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "38283630", "34877518", "22341971" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Hypermanganesemia with dystonia 1, MIM#613280" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9456", "gene_name": "protein S", "omim_gene": [ "176880" ], "alias_name": null, "gene_symbol": "PROS1", "hgnc_symbol": "PROS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:93591881-93692910", "ensembl_id": "ENSG00000184500" } }, "GRch38": { "90": { "location": "3:93873033-93974066", "ensembl_id": "ENSG00000184500" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "PROS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Thrombophilia 5 due to protein S deficiency, autosomal recessive #614514" ], "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": [ "nudE", "FLJ20101", "NDE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17619", "gene_name": "nudE neurodevelopment protein 1", "omim_gene": [ "609449" ], "alias_name": null, "gene_symbol": "NDE1", "hgnc_symbol": "NDE1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:15737124-15820210", "ensembl_id": "ENSG00000072864" } }, "GRch38": { "90": { "location": "16:15643267-15726353", "ensembl_id": "ENSG00000072864" } } }, "hgnc_date_symbol_changed": "2003-04-10" }, "entity_type": "gene", "entity_name": "NDE1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30637988", "21529751", "34562061" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Lissencephaly 4 (with microcephaly), MIM#614019" ], "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": [ "PDLIM6", "KIAA0613", "ZASP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15710", "gene_name": "LIM domain binding 3", "omim_gene": [ "605906" ], "alias_name": [ "cypher", "oracle", "Z-band alternatively spliced PDZ motif protein" ], "gene_symbol": "LDB3", "hgnc_symbol": "LDB3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:88428206-88495825", "ensembl_id": "ENSG00000122367" } }, "GRch38": { "90": { "location": "10:86668449-86736068", "ensembl_id": "ENSG00000122367" } } }, "hgnc_date_symbol_changed": "2001-12-04" }, "entity_type": "gene", "entity_name": "LDB3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Myofibrillar myopathy" ], "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": [ "VAMP-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12642", "gene_name": "vesicle associated membrane protein 1", "omim_gene": [ "185880" ], "alias_name": null, "gene_symbol": "VAMP1", "hgnc_symbol": "VAMP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:6571403-6580153", "ensembl_id": "ENSG00000139190" } }, "GRch38": { "90": { "location": "12:6462237-6470987", "ensembl_id": "ENSG00000139190" } } }, "hgnc_date_symbol_changed": "1990-03-14" }, "entity_type": "gene", "entity_name": "VAMP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28168212", "28253535", "28600779", "17102983" ], "evidence": [ "Expert Review Green", "BabySeq Category C gene", "BeginNGS" ], "phenotypes": [ "Myasthenic syndrome, congenital, 25, MIM# 618323" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "neurological" ], "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": [ "querkopf", "qkf", "Morf", "MOZ2", "ZC2HC6B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17582", "gene_name": "lysine acetyltransferase 6B", "omim_gene": [ "605880" ], "alias_name": [ "MOZ-related factor" ], "gene_symbol": "KAT6B", "hgnc_symbol": "KAT6B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:76585340-76792380", "ensembl_id": "ENSG00000156650" } }, "GRch38": { "90": { "location": "10:74825582-75032622", "ensembl_id": "ENSG00000156650" } } }, "hgnc_date_symbol_changed": "2011-07-21" }, "entity_type": "gene", "entity_name": "KAT6B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "SBBYSS syndrome MIM #603736", "Genitopatellar syndrome MIM #606170" ], "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": [ "LAL", "CESD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6617", "gene_name": "lipase A, lysosomal acid type", "omim_gene": [ "613497" ], "alias_name": [ "Wolman disease", "lysosomal acid lipase", "sterol esterase" ], "gene_symbol": "LIPA", "hgnc_symbol": "LIPA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:90973326-91174314", "ensembl_id": "ENSG00000107798" } }, "GRch38": { "90": { "location": "10:89213569-89414557", "ensembl_id": "ENSG00000107798" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "LIPA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Wolman disease, Cholesterol ester storage disease" ], "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": [ "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": [ "23168288", "20423733", "20829228", "19879535", "22395865", "24200904", "29212896" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Arrhythmogenic right ventricular cardiomyopathy", "Cardiomyopathy, dilated, 1I, MIM# 604765", "Myopathy, myofibrillar, 1 , MIM#601419" ], "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": [ "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": [ "17277775", "19088120", "27864101", "33737016", "18566967" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Osteogenesis imperfecta, type VIII, MIM#610915" ], "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": [ "CAB56184", "c316G12.3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23026", "gene_name": "N-acetylglucosamine-1-phosphate transferase gamma subunit", "omim_gene": [ "607838" ], "alias_name": [ "GlcNAc-phosphotransferase gamma-subunit" ], "gene_symbol": "GNPTG", "hgnc_symbol": "GNPTG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:1401924-1413352", "ensembl_id": "ENSG00000090581" } }, "GRch38": { "90": { "location": "16:1351923-1364113", "ensembl_id": "ENSG00000090581" } } }, "hgnc_date_symbol_changed": "2004-10-01" }, "entity_type": "gene", "entity_name": "GNPTG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10712439", "19370764:19659762", "33507475", "33023972", "32651481" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Mucolipidosis III gamma, MIM# 252605" ], "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": [ "GA2", "EMA", "MADD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3481", "gene_name": "electron transfer flavoprotein alpha subunit", "omim_gene": [ "608053" ], "alias_name": [ "glutaric aciduria II" ], "gene_symbol": "ETFA", "hgnc_symbol": "ETFA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:76507696-76603813", "ensembl_id": "ENSG00000140374" } }, "GRch38": { "90": { "location": "15:76215355-76311472", "ensembl_id": "ENSG00000140374" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ETFA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31904027" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Glutaric acidemia IIA, MIM# 231680" ], "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": [ "NOS1", "ZC2HC12A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23044", "gene_name": "nanos C2HC-type zinc finger 1", "omim_gene": [ "608226" ], "alias_name": null, "gene_symbol": "NANOS1", "hgnc_symbol": "NANOS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:120789228-120793854", "ensembl_id": "ENSG00000188613" } }, "GRch38": { "90": { "location": "10:119029716-119033732", "ensembl_id": "ENSG00000188613" } } }, "hgnc_date_symbol_changed": "2003-12-01" }, "entity_type": "gene", "entity_name": "NANOS1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23315541" ], "evidence": [ "Literature", "Expert Review Amber", "Expert Review Amber", "Literature" ], "phenotypes": [ "spermatogenic failure MONDO:0004983" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": "1.156", "version_created": "2026-04-30T15:46:29.604965+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 269, "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1488", "gene_name": "capping actin protein of muscle Z-line alpha subunit 1", "omim_gene": [ "601580" ], "alias_name": null, "gene_symbol": "CAPZA1", "hgnc_symbol": "CAPZA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:113161795-113214241", "ensembl_id": "ENSG00000116489" } }, "GRch38": { "90": { "location": "1:112619173-112671619", "ensembl_id": "ENSG00000116489" } } }, "hgnc_date_symbol_changed": "1994-05-26" }, "entity_type": "gene", "entity_name": "CAPZA1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41858859" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Infertility disorder, MONDO:0005047" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": "1.156", "version_created": "2026-04-30T15:46:29.604965+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 269, "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": [ "Phox2b", "NBPhox" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9143", "gene_name": "paired like homeobox 2b", "omim_gene": [ "603851" ], "alias_name": null, "gene_symbol": "PHOX2B", "hgnc_symbol": "PHOX2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:41746099-41750987", "ensembl_id": "ENSG00000109132" } }, "GRch38": { "90": { "location": "4:41744082-41748970", "ensembl_id": "ENSG00000109132" } } }, "hgnc_date_symbol_changed": "2003-02-14" }, "entity_type": "str", "entity_name": "PHOX2B_CCHS_GCN", "confidence_level": "3", "penetrance": null, "publications": [ "12640453", "34012823", "20301600", "18798833" ], "evidence": [ "Expert list", "Expert Review Green", "Expert list" ], "phenotypes": [ "Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "GCN", "chromosome": "4", "grch37_coordinates": [ 41747989, 41748048 ], "grch38_coordinates": [ 41745972, 41746031 ], "normal_repeats": 20, "pathogenic_repeats": 25, "tags": [ "paediatric-onset" ], "panel": { "id": 110, "hash_id": null, "name": "Hirschsprung disease", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.28", "version_created": "2026-01-04T18:41:54.183701+11:00", "relevant_disorders": [ "Aganglionic megacolon", "HP:0002251" ], "stats": { "number_of_genes": 14, "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": [] } } ] }