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GET /api/v1/entities/?format=api&page=108
{ "count": 36040, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=109", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=107", "results": [ { "gene_data": { "alias": [ "dJ20C7.5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21024", "gene_name": "cullin 7", "omim_gene": [ "609577" ], "alias_name": null, "gene_symbol": "CUL7", "hgnc_symbol": "CUL7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:43005355-43021683", "ensembl_id": "ENSG00000044090" } }, "GRch38": { "90": { "location": "6:43037617-43053945", "ensembl_id": "ENSG00000044090" } } }, "hgnc_date_symbol_changed": "2004-03-22" }, "entity_type": "gene", "entity_name": "CUL7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20301654", "26850509", "17675530" ], "evidence": [ "Expert Review Green", "Expert list", "Literature" ], "phenotypes": [ "3-M syndrome 1 - MIM#273750", "Yakut short stature syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 28, "hash_id": null, "name": "Skeletal Dysplasia_Fetal", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.", "status": "public", "version": "0.246", "version_created": "2026-03-02T10:22:48.751874+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 157, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MOZ", "ZC2HC6A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13013", "gene_name": "lysine acetyltransferase 6A", "omim_gene": [ "601408" ], "alias_name": [ "Monocytic leukemia zinc finger protein" ], "gene_symbol": "KAT6A", "hgnc_symbol": "KAT6A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:41786997-41909508", "ensembl_id": "ENSG00000083168" } }, "GRch38": { "90": { "location": "8:41929479-42051990", "ensembl_id": "ENSG00000083168" } } }, "hgnc_date_symbol_changed": "2011-07-21" }, "entity_type": "gene", "entity_name": "KAT6A", "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": "0.248", "version_created": "2026-03-19T12:51:18.584438+11:00", "relevant_disorders": [ "Autism", "HP:0000717" ], "stats": { "number_of_genes": 157, "number_of_strs": 0, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "URP2", "KIND3", "MIG2B", "MGC10966", "MIG-2", "UNC112C" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23151", "gene_name": "fermitin family member 3", "omim_gene": [ "607901" ], "alias_name": [ "kindlin-3" ], "gene_symbol": "FERMT3", "hgnc_symbol": "FERMT3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:63974150-63991354", "ensembl_id": "ENSG00000149781" } }, "GRch38": { "90": { "location": "11:64206678-64223886", "ensembl_id": "ENSG00000149781" } } }, "hgnc_date_symbol_changed": "2007-12-14" }, "entity_type": "gene", "entity_name": "FERMT3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Leukocyte adhesion deficiency, type III, MIM#\t612840" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 54, "hash_id": null, "name": "Bleeding and Platelet Disorders", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with coagulation, platelet and blood vessel disorders that predispose to bleeding and to thrombosis.", "status": "public", "version": "1.77", "version_created": "2026-04-08T12:32:35.286494+10:00", "relevant_disorders": [ "Abnormal bleeding", "HP:0001892;Abnormal thrombosis", "HP:0001977" ], "stats": { "number_of_genes": 140, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SUTAL", "BLOC2S1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15597", "gene_name": "HPS3, biogenesis of lysosomal organelles complex 2 subunit 1", "omim_gene": [ "606118" ], "alias_name": null, "gene_symbol": "HPS3", "hgnc_symbol": "HPS3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:148847371-148891519", "ensembl_id": "ENSG00000163755" } }, "GRch38": { "90": { "location": "3:149129584-149173732", "ensembl_id": "ENSG00000163755" } } }, "hgnc_date_symbol_changed": "2001-06-13" }, "entity_type": "gene", "entity_name": "HPS3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11455388", "31880485", "31621111", "30990103" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hermansky-Pudlak syndrome 3, MIM# 614072", "MONDO:0013555" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 54, "hash_id": null, "name": "Bleeding and Platelet Disorders", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with coagulation, platelet and blood vessel disorders that predispose to bleeding and to thrombosis.", "status": "public", "version": "1.77", "version_created": "2026-04-08T12:32:35.286494+10:00", "relevant_disorders": [ "Abnormal bleeding", "HP:0001892;Abnormal thrombosis", "HP:0001977" ], "stats": { "number_of_genes": 140, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9024", "gene_name": "plakophilin 2", "omim_gene": [ "602861" ], "alias_name": null, "gene_symbol": "PKP2", "hgnc_symbol": "PKP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:32943679-33049774", "ensembl_id": "ENSG00000057294" } }, "GRch38": { "90": { "location": "12:32790745-32896840", "ensembl_id": "ENSG00000057294" } } }, "hgnc_date_symbol_changed": "1997-08-28" }, "entity_type": "gene", "entity_name": "PKP2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Brugada syndrome, MONDO:0015263" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "disputed" ], "panel": { "id": 60, "hash_id": null, "name": "Brugada syndrome", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.46", "version_created": "2026-02-06T09:29:49.325637+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 23, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "AHD", "AWS", "HJ1", "CD339" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6188", "gene_name": "jagged 1", "omim_gene": [ "601920" ], "alias_name": null, "gene_symbol": "JAG1", "hgnc_symbol": "JAG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:10618332-10654694", "ensembl_id": "ENSG00000101384" } }, "GRch38": { "90": { "location": "20:10637684-10674107", "ensembl_id": "ENSG00000101384" } } }, "hgnc_date_symbol_changed": "1997-05-22" }, "entity_type": "gene", "entity_name": "JAG1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40257159", "37337769", "32883240" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Alagille syndrome 1, MIM#\t118450" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 66, "hash_id": null, "name": "Cataract", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.", "status": "public", "version": "1.3", "version_created": "2026-03-31T18:43:23.306556+11:00", "relevant_disorders": [ "Cataract", "HP:0000518" ], "stats": { "number_of_genes": 258, "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" }, { "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:2397", "gene_name": "crystallin beta B1", "omim_gene": [ "600929" ], "alias_name": null, "gene_symbol": "CRYBB1", "hgnc_symbol": "CRYBB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:26995242-27014052", "ensembl_id": "ENSG00000100122" } }, "GRch38": { "90": { "location": "22:26599278-26618088", "ensembl_id": "ENSG00000100122" } } }, "hgnc_date_symbol_changed": "1994-08-18" }, "entity_type": "gene", "entity_name": "CRYBB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12360425", "16110300", "17460281", "21972112" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cataract 17, multiple types, MIM# 611544" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 66, "hash_id": null, "name": "Cataract", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.", "status": "public", "version": "1.3", "version_created": "2026-03-31T18:43:23.306556+11:00", "relevant_disorders": [ "Cataract", "HP:0000518" ], "stats": { "number_of_genes": 258, "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" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GAA1", "hGAA1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4446", "gene_name": "glycosylphosphatidylinositol anchor attachment 1", "omim_gene": [ "603048" ], "alias_name": [ "GPI transamidase subunit" ], "gene_symbol": "GPAA1", "hgnc_symbol": "GPAA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:145137493-145141119", "ensembl_id": "ENSG00000197858" } }, "GRch38": { "90": { "location": "8:144082590-144086216", "ensembl_id": "ENSG00000197858" } } }, "hgnc_date_symbol_changed": "1998-12-09" }, "entity_type": "gene", "entity_name": "GPAA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29100095" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Glycosylphosphatidylinositol biosynthesis defect 15, MIM#\t617810" ], "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": "1.85", "version_created": "2026-04-02T10:46:27.496905+11:00", "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": [] }, { "gene_data": { "alias": [ "MGC12981", "FLJ30131", "ccp1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28178", "gene_name": "coiled-coil domain containing 115", "omim_gene": [ "613734" ], "alias_name": null, "gene_symbol": "CCDC115", "hgnc_symbol": "CCDC115", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:131095814-131099922", "ensembl_id": "ENSG00000136710" } }, "GRch38": { "90": { "location": "2:130338241-130342349", "ensembl_id": "ENSG00000136710" } } }, "hgnc_date_symbol_changed": "2006-07-03" }, "entity_type": "gene", "entity_name": "CCDC115", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "26833332" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Congenital disorder of glycosylation, type IIo (MIM# \t616828)" ], "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": "1.85", "version_created": "2026-04-02T10:46:27.496905+11:00", "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": [ "K2p3.1", "TASK", "TASK-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6278", "gene_name": "potassium two pore domain channel subfamily K member 3", "omim_gene": [ "603220" ], "alias_name": null, "gene_symbol": "KCNK3", "hgnc_symbol": "KCNK3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:26915619-26956288", "ensembl_id": "ENSG00000171303" } }, "GRch38": { "90": { "location": "2:26692690-26733420", "ensembl_id": "ENSG00000171303" } } }, "hgnc_date_symbol_changed": "1997-12-12" }, "entity_type": "gene", "entity_name": "KCNK3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36195757" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, KCNK3-related", "developmental delay with sleep apnoea (DDSA)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 71, "hash_id": null, "name": "Central Hypoventilation", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed by and is maintained by VCGS.\r\n\r\nMore than 90% of individuals with congenital central hypoventilation syndrome have variants in the PHOX2B gene, most commonly an expansion of the polyalanine tract, which may not be tractable by all NGS assays.", "status": "public", "version": "1.7", "version_created": "2026-01-04T18:41:11.422790+11:00", "relevant_disorders": [ "Central hypoventilation HP:0007110" ], "stats": { "number_of_genes": 12, "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": [ "FLJ14566", "AGO61" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25902", "gene_name": "protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)", "omim_gene": [ "614828" ], "alias_name": null, "gene_symbol": "POMGNT2", "hgnc_symbol": "POMGNT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:43120724-43147568", "ensembl_id": "ENSG00000144647" } }, "GRch38": { "90": { "location": "3:43079232-43106076", "ensembl_id": "ENSG00000144647" } } }, "hgnc_date_symbol_changed": "2013-08-22" }, "entity_type": "gene", "entity_name": "POMGNT2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22958903", "27066570" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 (MIM#614830)" ], "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": [ "B17.2L", "MMTN", "mimitin" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28086", "gene_name": "NADH:ubiquinone oxidoreductase complex assembly factor 2", "omim_gene": [ "609653" ], "alias_name": [ "Myc-induced mitochondrial protein" ], "gene_symbol": "NDUFAF2", "hgnc_symbol": "NDUFAF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:60240956-60448853", "ensembl_id": "ENSG00000164182" } }, "GRch38": { "90": { "location": "5:60945129-61153037", "ensembl_id": "ENSG00000164182" } } }, "hgnc_date_symbol_changed": "2008-02-15" }, "entity_type": "gene", "entity_name": "NDUFAF2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID:33528536", "PMID:34364746" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Cerebral palsy", "Mitochondrial complex I deficiency nuclear type 10 (OMIM 618233)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "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": 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": 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": "0.534", "version_created": "2026-03-30T13:14:35.719896+11:00", "relevant_disorders": [ "Abnormal heart morphology HP:0001627" ], "stats": { "number_of_genes": 253, "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": [ "RAD51L2", "FANCO" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9820", "gene_name": "RAD51 paralog C", "omim_gene": [ "602774" ], "alias_name": null, "gene_symbol": "RAD51C", "hgnc_symbol": "RAD51C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:56769934-56811703", "ensembl_id": "ENSG00000108384" } }, "GRch38": { "90": { "location": "17:58692573-58735611", "ensembl_id": "ENSG00000108384" } } }, "hgnc_date_symbol_changed": "1998-02-26" }, "entity_type": "gene", "entity_name": "RAD51C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20400963", "29278735" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Fanconi anemia, complementation group O, MIM# 613390" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 79, "hash_id": null, "name": "Chromosome Breakage Disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was created and is maintained by VCGS.\r\n\r\nChromosomal instability syndromes are a group of inherited disorders associated with chromosomal instability and breakage either spontaneously or in response to DNA damaging agents. They include ataxia telangiectasia, Bloom syndrome, Fanconi anaemia, Nijmegen breakage syndrome, immunodeficiency/centromeric instability/facial anomalies syndrome, Cockayne syndrome, trichothiodystrophy, xeroderma pigmentosum, DNA ligase I deficiency, and DNA recombinase repair defects.\r\n\r\nTypical features include impairment of growth, immunodeficiency, predisposition to infectious disease, and the risk of developing certain types of malignancies.", "status": "public", "version": "1.24", "version_created": "2025-10-16T15:58:38.818741+11:00", "relevant_disorders": [ "Chromosome breakage HP:0040012" ], "stats": { "number_of_genes": 60, "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": [ "HO3", "HARSR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4817", "gene_name": "histidyl-tRNA synthetase 2, mitochondrial", "omim_gene": [ "600783" ], "alias_name": [ "histidine tRNA ligase 2, mitochondrial (putative)" ], "gene_symbol": "HARS2", "hgnc_symbol": "HARS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:140071011-140078889", "ensembl_id": "ENSG00000112855" } }, "GRch38": { "90": { "location": "5:140691426-140699291", "ensembl_id": "ENSG00000112855" } } }, "hgnc_date_symbol_changed": "2007-02-23" }, "entity_type": "gene", "entity_name": "HARS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 27650058", "21464306", "27087618" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Perrault syndrome 2, MIM# 614926" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.50", "version_created": "2026-04-12T14:14:27.453739+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 142, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KRT5A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6442", "gene_name": "keratin 5", "omim_gene": [ "148040" ], "alias_name": null, "gene_symbol": "KRT5", "hgnc_symbol": "KRT5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:52908359-52914471", "ensembl_id": "ENSG00000186081" } }, "GRch38": { "90": { "location": "12:52514575-52520687", "ensembl_id": "ENSG00000186081" } } }, "hgnc_date_symbol_changed": "1991-09-12" }, "entity_type": "gene", "entity_name": "KRT5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Dowling-Degos disease 1, MIM# 179850", "Epidermolysis bullosa simplex-MCR, MIM# 609352", "Epidermolysis bullosa simplex-MP 131960", "Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760", "Epidermolysis bullosa simplex, Koebner type, MIM# 131900", "Epidermolysis bullosa simplex, recessive 1, MIM# 601001", "Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Dnahc9", "KIAA0357", "HL20", "HL-20", "DNAL1", "DYH9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2953", "gene_name": "dynein axonemal heavy chain 9", "omim_gene": [ "603330" ], "alias_name": null, "gene_symbol": "DNAH9", "hgnc_symbol": "DNAH9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:11501748-11873065", "ensembl_id": "ENSG00000007174" } }, "GRch38": { "90": { "location": "17:11598431-11969748", "ensembl_id": "ENSG00000007174" } } }, "hgnc_date_symbol_changed": "1997-02-05" }, "entity_type": "gene", "entity_name": "DNAH9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 30471717", "30471718" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Ciliary dyskinesia, primary, 40\t618300" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 108, "hash_id": null, "name": "Heterotaxy", "disease_group": "Dysmorphic and congenital abnormality syndromes", "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 PanelApp 'Laterality disorders and isomerism' panel V1.19, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.45", "version_created": "2026-03-17T16:09:39.911604+11:00", "relevant_disorders": [ "Heterotaxy", "HP:0030853; Dextrocardia", "HP:0001651; Asplenia", "HP:0001746; Abnormal spatial orientation of cardiac segments", "HP:0011534; Polysplenia", "HP:0001748;Midline liver", "HP:0034188" ], "stats": { "number_of_genes": 67, "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": [ "PDIA1", "PROHB", "DSI", "GIT", "PDI", "PO4HB", "P4Hbeta" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8548", "gene_name": "prolyl 4-hydroxylase subunit beta", "omim_gene": [ "176790" ], "alias_name": [ "protein disulfide isomerase-associated 1", "protein disulfide isomerase family A, member 1", "collagen prolyl 4-hydroxylase beta" ], "gene_symbol": "P4HB", "hgnc_symbol": "P4HB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:79801035-79818570", "ensembl_id": "ENSG00000185624" } }, "GRch38": { "90": { "location": "17:81843159-81860694", "ensembl_id": "ENSG00000185624" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "P4HB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30063094", "29263160", "25683117", "29384951" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Cole-Carpenter syndrome 1, MIM#112240" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [ "ARTEMIS", "FLJ11360", "SNM1C", "A-SCID" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17642", "gene_name": "DNA cross-link repair 1C", "omim_gene": [ "605988" ], "alias_name": [ "PSO2 homolog (S. cerevisiae)" ], "gene_symbol": "DCLRE1C", "hgnc_symbol": "DCLRE1C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:14939358-14996431", "ensembl_id": "ENSG00000152457" } }, "GRch38": { "90": { "location": "10:14897359-14954432", "ensembl_id": "ENSG00000152457" } } }, "hgnc_date_symbol_changed": "2002-01-18" }, "entity_type": "gene", "entity_name": "DCLRE1C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12055248, 34220820, 11336668, 19953608, 15731174, 16540517, 18034425, 12504013, 15699179" ], "evidence": [ "Expert list", "Expert Review Green" ], "phenotypes": [ "Severe combined immunodeficiency due to DCLRE1C deficiency, MONDO:0011225" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 123, "hash_id": null, "name": "Inflammatory bowel disease", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.126", "version_created": "2025-10-16T15:50:33.114198+11:00", "relevant_disorders": [ "Gastrointestinal inflammation", "HP:0004386" ], "stats": { "number_of_genes": 85, "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": [ "APRF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11364", "gene_name": "signal transducer and activator of transcription 3", "omim_gene": [ "102582" ], "alias_name": null, "gene_symbol": "STAT3", "hgnc_symbol": "STAT3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:40465342-40540586", "ensembl_id": "ENSG00000168610" } }, "GRch38": { "90": { "location": "17:42313324-42388568", "ensembl_id": "ENSG00000168610" } } }, "hgnc_date_symbol_changed": "1995-11-08" }, "entity_type": "gene", "entity_name": "STAT3", "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": 123, "hash_id": null, "name": "Inflammatory bowel disease", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.126", "version_created": "2025-10-16T15:50:33.114198+11:00", "relevant_disorders": [ "Gastrointestinal inflammation", "HP:0004386" ], "stats": { "number_of_genes": 85, "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": [ "SREBP1", "bHLHd1", "SREBP-1c", "SREBP1a" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11289", "gene_name": "sterol regulatory element binding transcription factor 1", "omim_gene": [ "184756" ], "alias_name": null, "gene_symbol": "SREBF1", "hgnc_symbol": "SREBF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:17713713-17740325", "ensembl_id": "ENSG00000072310" } }, "GRch38": { "90": { "location": "17:17810399-17837002", "ensembl_id": "ENSG00000072310" } } }, "hgnc_date_symbol_changed": "1994-11-23" }, "entity_type": "gene", "entity_name": "SREBF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32497488", "31790666", "32902915" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016", "Mucoepithelial dysplasia, hereditary, MIM#158310" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 124, "hash_id": null, "name": "Ichthyosis and Porokeratosis", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and RMH. It contains genes that cause non-syndromic and syndromic ichthyosis and porokeratosis.", "status": "public", "version": "1.25", "version_created": "2026-03-19T12:26:58.874178+11:00", "relevant_disorders": [ "Ichthyosis", "HP:0008064;Porokeratosis", "HP:0200044" ], "stats": { "number_of_genes": 65, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11773", "gene_name": "transforming growth factor beta receptor 2", "omim_gene": [ "190182" ], "alias_name": null, "gene_symbol": "TGFBR2", "hgnc_symbol": "TGFBR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:30647994-30735634", "ensembl_id": "ENSG00000163513" } }, "GRch38": { "90": { "location": "3:30606502-30694142", "ensembl_id": "ENSG00000163513" } } }, "hgnc_date_symbol_changed": "1993-09-30" }, "entity_type": "gene", "entity_name": "TGFBR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30071989", "27879313" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Loeys-Dietz syndrome 2 , MIM#610168" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "cardiac" ], "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": null }, { "gene_data": { "alias": [ "NHE6", "KIAA0267" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11079", "gene_name": "solute carrier family 9 member A6", "omim_gene": [ "300231" ], "alias_name": null, "gene_symbol": "SLC9A6", "hgnc_symbol": "SLC9A6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:135067598-135129423", "ensembl_id": "ENSG00000198689" } }, "GRch38": { "90": { "location": "X:135973841-136047269", "ensembl_id": "ENSG00000198689" } } }, "hgnc_date_symbol_changed": "1999-07-30" }, "entity_type": "gene", "entity_name": "SLC9A6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18342287", "19377476", "25044251", "33278113", "32569089", "31879735", "35198730", "39810750", "35198730", "31192222" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Intellectual developmental disorder, X-linked syndromic, Christianson type MIM#300243", "Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement, MIM# 301142" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "EST45597", "umat", "MTABC3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:47", "gene_name": "ATP binding cassette subfamily B member 6 (Langereis blood group)", "omim_gene": [ "605452" ], "alias_name": [ "ATP-binding cassette half-transporter" ], "gene_symbol": "ABCB6", "hgnc_symbol": "ABCB6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:220074490-220083712", "ensembl_id": "ENSG00000115657" } }, "GRch38": { "90": { "location": "2:219209768-219218990", "ensembl_id": "ENSG00000115657" } } }, "hgnc_date_symbol_changed": "1999-10-26" }, "entity_type": "gene", "entity_name": "ABCB6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23180570", "22226084", "24281366" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Pseudohyperkalemia, familial, 2, due to red cell leak, MIM# 609153", "Microphthalmia, isolated, with coloboma 7, MIM# 614497", "Dyschromatosis universalis hereditaria 3, MIM# 615402" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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:2910", "gene_name": "delta like canonical Notch ligand 4", "omim_gene": [ "605185" ], "alias_name": null, "gene_symbol": "DLL4", "hgnc_symbol": "DLL4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:41221538-41231237", "ensembl_id": "ENSG00000128917" } }, "GRch38": { "90": { "location": "15:40929340-40939072", "ensembl_id": "ENSG00000128917" } } }, "hgnc_date_symbol_changed": "2000-07-31" }, "entity_type": "gene", "entity_name": "DLL4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26299364", "33899511", "31261205", "29924900" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Adams-Oliver syndrome 6, MIM#616589" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "EEF1AL", "HS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3192", "gene_name": "eukaryotic translation elongation factor 1 alpha 2", "omim_gene": [ "602959" ], "alias_name": null, "gene_symbol": "EEF1A2", "hgnc_symbol": "EEF1A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:62119366-62130505", "ensembl_id": "ENSG00000101210" } }, "GRch38": { "90": { "location": "20:63488013-63499315", "ensembl_id": "ENSG00000101210" } } }, "hgnc_date_symbol_changed": "1995-08-15" }, "entity_type": "gene", "entity_name": "EEF1A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "24697219", "32196822", "32160274", "32062104", "31893083" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mental retardation, autosomal dominant 38, MIM# 616393", "MONDO:0014617", "Developmental and epileptic encephalopathy 33, MIM# 616409", "MONDO:0014625" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "EZH1", "ENX-1", "KMT6", "KMT6A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3527", "gene_name": "enhancer of zeste 2 polycomb repressive complex 2 subunit", "omim_gene": [ "601573" ], "alias_name": null, "gene_symbol": "EZH2", "hgnc_symbol": "EZH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:148504475-148581413", "ensembl_id": "ENSG00000106462" } }, "GRch38": { "90": { "location": "7:148807383-148884321", "ensembl_id": "ENSG00000106462" } } }, "hgnc_date_symbol_changed": "1995-12-21" }, "entity_type": "gene", "entity_name": "EZH2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29244146", "23865096" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Weaver syndrome MIM#277590" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "RNF113", "Cwc24" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12974", "gene_name": "ring finger protein 113A", "omim_gene": [ "300951" ], "alias_name": null, "gene_symbol": "RNF113A", "hgnc_symbol": "RNF113A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:119004497-119005791", "ensembl_id": "ENSG00000125352" } }, "GRch38": { "90": { "location": "X:119870475-119871827", "ensembl_id": "ENSG00000125352" } } }, "hgnc_date_symbol_changed": "2005-03-22" }, "entity_type": "gene", "entity_name": "RNF113A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25612912", "31793730", "31880405" ], "evidence": [ "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Trichothiodystrophy 5, nonphotosensitive", "OMIM #300953" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": null, "hgnc_id": "HGNC:11285", "gene_name": "steroid 5 alpha-reductase 2", "omim_gene": [ "607306" ], "alias_name": [ "3-oxo-5-alpha-steroid 4-dehydrogenase 2" ], "gene_symbol": "SRD5A2", "hgnc_symbol": "SRD5A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:31747550-31806136", "ensembl_id": "ENSG00000049319" } }, "GRch38": { "90": { "location": "2:31522480-31581067", "ensembl_id": "ENSG00000277893" } } }, "hgnc_date_symbol_changed": "1991-05-21" }, "entity_type": "gene", "entity_name": "SRD5A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "1944596", "12843198", "35331321", "35154247", "35135181" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Pseudovaginal perineoscrotal hypospadias, MIM# 264600" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "GalNAc-T2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4124", "gene_name": "polypeptide N-acetylgalactosaminyltransferase 2", "omim_gene": [ "602274" ], "alias_name": [ "polypeptide GalNAc transferase 2" ], "gene_symbol": "GALNT2", "hgnc_symbol": "GALNT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:230193536-230417870", "ensembl_id": "ENSG00000143641" } }, "GRch38": { "90": { "location": "1:230057990-230282124", "ensembl_id": "ENSG00000143641" } } }, "hgnc_date_symbol_changed": "1996-10-26" }, "entity_type": "gene", "entity_name": "GALNT2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32293671" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Congenital disorder of glycosylation MONDO:0015286" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "CAPZ", "CAPPA2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1490", "gene_name": "capping actin protein of muscle Z-line alpha subunit 2", "omim_gene": [ "601571" ], "alias_name": [ "F-actin capping protein alpha-2 subunit" ], "gene_symbol": "CAPZA2", "hgnc_symbol": "CAPZA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:116451124-116562103", "ensembl_id": "ENSG00000198898" } }, "GRch38": { "90": { "location": "7:116811070-116922049", "ensembl_id": "ENSG00000198898" } } }, "hgnc_date_symbol_changed": "1994-05-26" }, "entity_type": "gene", "entity_name": "CAPZA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32338762", "38374166", "35856264" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, CAPZA2-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "DNEL2", "FLJ40457" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2946", "gene_name": "dynein axonemal heavy chain 17", "omim_gene": [ "610063" ], "alias_name": null, "gene_symbol": "DNAH17", "hgnc_symbol": "DNAH17", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:76419778-76573476", "ensembl_id": "ENSG00000187775" } }, "GRch38": { "90": { "location": "17:78423697-78577394", "ensembl_id": "ENSG00000187775" } } }, "hgnc_date_symbol_changed": "1999-02-12" }, "entity_type": "gene", "entity_name": "DNAH17", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "https://search.clinicalgenome.org/CCID:004669" ], "evidence": [ "Expert Review Green", "Other" ], "phenotypes": [ "spermatogenic failure 39 (MONDO:0032845)" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "ICBP90", "Np95", "FLJ21925", "RNF106", "TDRD22" ], "biotype": null, "hgnc_id": "HGNC:12556", "gene_name": "ubiquitin like with PHD and ring finger domains 1", "omim_gene": [ "607990" ], "alias_name": null, "gene_symbol": "UHRF1", "hgnc_symbol": "UHRF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:4903092-4962165", "ensembl_id": "ENSG00000034063" } }, "GRch38": { "90": { "location": "19:4903080-4962154", "ensembl_id": "ENSG00000276043" } } }, "hgnc_date_symbol_changed": "2000-03-15" }, "entity_type": "gene", "entity_name": "UHRF1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29574422", "28976982", "36458887", "40825131" ], "evidence": [ "Expert Review Amber", "Expert Review" ], "phenotypes": [ "Multi locus imprinting disturbance in offspring", "chromosome instability" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "JKTBP", "laAUF1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5037", "gene_name": "heterogeneous nuclear ribonucleoprotein D like", "omim_gene": [ "607137" ], "alias_name": null, "gene_symbol": "HNRNPDL", "hgnc_symbol": "HNRNPDL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:83343717-83351294", "ensembl_id": "ENSG00000152795" } }, "GRch38": { "90": { "location": "4:82422564-82430408", "ensembl_id": "ENSG00000152795" } } }, "hgnc_date_symbol_changed": "2013-06-12" }, "entity_type": "gene", "entity_name": "HNRNPDL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24647604", "31267206", "31995753", "32407983", "32904822", "32367994" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Muscular dystrophy, limb-girdle, autosomal dominant 3 MIM#609115" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "ME2", "HFMI2", "FMI2", "CDHF9", "ADGRC1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1850", "gene_name": "cadherin EGF LAG seven-pass G-type receptor 1", "omim_gene": [ "604523" ], "alias_name": [ "flamingo homolog 2 (Drosophila)", "adhesion G protein-coupled receptor C1" ], "gene_symbol": "CELSR1", "hgnc_symbol": "CELSR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:46756731-46933067", "ensembl_id": "ENSG00000075275" } }, "GRch38": { "90": { "location": "22:46360834-46537170", "ensembl_id": "ENSG00000075275" } } }, "hgnc_date_symbol_changed": "2000-02-14" }, "entity_type": "gene", "entity_name": "CELSR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26855770", "31215153", "31403174", "36453712", "38272662", "41530147" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Lymphatic malformation 9 (MIM#619319)", "Neurodevelopmental disorder, MONDO:0700092, CELSR1-related" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "p190", "Caspr", "CNTNAP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8011", "gene_name": "contactin associated protein 1", "omim_gene": [ "602346" ], "alias_name": [ "neurexin 4" ], "gene_symbol": "CNTNAP1", "hgnc_symbol": "CNTNAP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:40834631-40851832", "ensembl_id": "ENSG00000108797" } }, "GRch38": { "90": { "location": "17:42682613-42699814", "ensembl_id": "ENSG00000108797" } } }, "hgnc_date_symbol_changed": "1998-10-14" }, "entity_type": "gene", "entity_name": "CNTNAP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24319099", "28254648" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Lethal congenital contracture syndrome 7, MIM#\t616286", "MONDO:0014569" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 139, "hash_id": null, "name": "Multiple pterygium syndrome_Fetal akinesia sequence", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel contains genes associated with severe perinatal disorders presenting with joint contractures, webbing and reduced fetal movements in particular those associated with:\r\n-fetal akinesia deformation sequence (FADS);\r\n-multiple pterygium syndromes;\r\n-lethal congenital contractures syndromes.\r\n\r\nPlease also consider a broader range of neurological conditions covered by the Congenital Myasthenia, Myopathy - paediatric onset, Arthrogryposis and Neuropathy panels, as well as the Intellectual disability panel.", "status": "public", "version": "1.11", "version_created": "2026-02-25T14:53:33.284450+11:00", "relevant_disorders": [ "Pterygium", "HP:0001059; Akinesia", "HP:0002304; Fetal akinesia sequence", "HP:0001989" ], "stats": { "number_of_genes": 28, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:20356", "gene_name": "GON7, KEOPS complex subunit", "omim_gene": [ "617436" ], "alias_name": null, "gene_symbol": "GON7", "hgnc_symbol": "GON7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:93669239-93673439", "ensembl_id": "ENSG00000170270" } }, "GRch38": { "90": { "location": "14:93202894-93207094", "ensembl_id": "ENSG00000170270" } } }, "hgnc_date_symbol_changed": "2016-07-08" }, "entity_type": "gene", "entity_name": "GON7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31481669" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Galloway-Mowat syndrome 9, MIM# 619603" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "panel": { "id": 144, "hash_id": null, "name": "Proteinuria", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "To be used in individuals with suspected nephrotic syndrome and related conditions, part of the Renal Glomerular Disease Superpanel.\r\n\r\n09/01/2020: This panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.", "status": "public", "version": "0.239", "version_created": "2026-03-12T18:51:41.043263+11:00", "relevant_disorders": [ "Proteinuria HP:0000093" ], "stats": { "number_of_genes": 88, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HYPB", "HIF-1", "KIAA1732", "FLJ23184", "KMT3A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18420", "gene_name": "SET domain containing 2", "omim_gene": [ "612778" ], "alias_name": null, "gene_symbol": "SETD2", "hgnc_symbol": "SETD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:47057919-47205457", "ensembl_id": "ENSG00000181555" } }, "GRch38": { "90": { "location": "3:47016429-47163967", "ensembl_id": "ENSG00000181555" } } }, "hgnc_date_symbol_changed": "2006-02-15" }, "entity_type": "gene", "entity_name": "SETD2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29681085" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Luscan-Lumish syndrome, MIM#616831" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 151, "hash_id": null, "name": "Overgrowth", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with generalised overgrowth of prenatal or postnatal onset. Generalised overgrowth is characterised by a relatively proportionate increase in stature (length or height) and/or head circumference at least two standard deviations above the mean compared to the age‐related peer group. This panel does not contain genes causing segmental overgrowth.\r\n\r\nChromosomal testing/methylation studies are recommended prior to sequencing for the diagnosis of Beckwith-Wiedemann syndrome.\r\n\r\nPlease also refer to the Macrocephaly panel if head growth is primarily or disproportionately affected.", "status": "public", "version": "1.21", "version_created": "2026-04-01T17:27:51.801810+11:00", "relevant_disorders": [ "Overgrowth", "HP:0001548; Tall stature", "HP:0000098; Increased body weight", "HP:0004324" ], "stats": { "number_of_genes": 31, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "WAGR", "WIT-2", "AWT1", "NPHS4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12796", "gene_name": "Wilms tumor 1", "omim_gene": [ "607102" ], "alias_name": null, "gene_symbol": "WT1", "hgnc_symbol": "WT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:32409321-32457176", "ensembl_id": "ENSG00000184937" } }, "GRch38": { "90": { "location": "11:32387775-32435630", "ensembl_id": "ENSG00000184937" } } }, "hgnc_date_symbol_changed": "1989-04-13" }, "entity_type": "gene", "entity_name": "WT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 152, "hash_id": null, "name": "Cancer Predisposition_Paediatric", "disease_group": "Cancer", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.133", "version_created": "2026-01-12T09:35:45.797477+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 106, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "L35A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10345", "gene_name": "ribosomal protein L35a", "omim_gene": [ "180468" ], "alias_name": null, "gene_symbol": "RPL35A", "hgnc_symbol": "RPL35A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:197676858-197683481", "ensembl_id": "ENSG00000182899" } }, "GRch38": { "90": { "location": "3:197949987-197956610", "ensembl_id": "ENSG00000182899" } } }, "hgnc_date_symbol_changed": "1991-11-29" }, "entity_type": "gene", "entity_name": "RPL35A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18535205", "32241839" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Diamond-Blackfan anaemia 5, MIM# 612528", "MONDO:0012925" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "SV/CNV" ], "panel": { "id": 163, "hash_id": null, "name": "Radial Ray Abnormalities", "disease_group": "Dysmorphic and congenital abnormality syndromes", "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 PanelApp 'Radial Dysplasia' panel and all differences have been resolved, with reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.21", "version_created": "2026-01-15T11:51:47.687282+11:00", "relevant_disorders": [ "Abnormality of radial ray", "HP:0410049" ], "stats": { "number_of_genes": 62, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "EDJ", "HEDJ", "ERdj3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14889", "gene_name": "DnaJ heat shock protein family (Hsp40) member B11", "omim_gene": [ "611341" ], "alias_name": null, "gene_symbol": "DNAJB11", "hgnc_symbol": "DNAJB11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:186285192-186315061", "ensembl_id": "ENSG00000090520" } }, "GRch38": { "90": { "location": "3:186567403-186585800", "ensembl_id": "ENSG00000090520" } } }, "hgnc_date_symbol_changed": "2001-03-09" }, "entity_type": "gene", "entity_name": "DNAJB11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29706351, 29777155, 32631624, 35664268, 32775842, 33129895, 34177435" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061", "Ivermark II syndrome." ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 194, "hash_id": null, "name": "Renal Macrocystic Disease", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel is developed was developed and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause macrocystic kidney disease. Many of the disorders also have a polycystic liver disease, either as the predominant phenotype or in association with primary kidney cysts.", "status": "public", "version": "1.0", "version_created": "2026-03-24T16:17:17.075108+11:00", "relevant_disorders": [ "Renal cyst", "HP:0000107" ], "stats": { "number_of_genes": 31, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ABP-280" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3754", "gene_name": "filamin A", "omim_gene": [ "300017" ], "alias_name": [ "actin binding protein 280", "alpha filamin" ], "gene_symbol": "FLNA", "hgnc_symbol": "FLNA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153576892-153603006", "ensembl_id": "ENSG00000196924" } }, "GRch38": { "90": { "location": "X:154348524-154374638", "ensembl_id": "ENSG00000196924" } } }, "hgnc_date_symbol_changed": "1993-03-18" }, "entity_type": "gene", "entity_name": "FLNA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30089473" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Heterotopia, periventricular, 1, MIM#\t300049" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "U2" ], "biotype": "snRNA", "hgnc_id": "HGNC:10152", "gene_name": "RNA, U2 small nuclear 2, pseudogene", "omim_gene": null, "alias_name": null, "gene_symbol": "RNU2-2P", "hgnc_symbol": "RNU2-2P", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:62609091-62609281", "ensembl_id": "ENSG00000222328" } }, "GRch38": { "90": { "location": "11:62841619-62841809", "ensembl_id": "ENSG00000222328" } } }, "hgnc_date_symbol_changed": "2013-05-16" }, "entity_type": "gene", "entity_name": "RNU2-2P", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40210679", "40442284", "40950445" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy 119, MIM# 621304" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [ "new gene name", "non-coding gene" ], "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": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "KIAA1176", "KCC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13818", "gene_name": "solute carrier family 12 member 5", "omim_gene": [ "606726" ], "alias_name": null, "gene_symbol": "SLC12A5", "hgnc_symbol": "SLC12A5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:44650356-44688784", "ensembl_id": "ENSG00000124140" } }, "GRch38": { "90": { "location": "20:46021690-46060152", "ensembl_id": "ENSG00000124140" } } }, "hgnc_date_symbol_changed": "2000-11-09" }, "entity_type": "gene", "entity_name": "SLC12A5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26333769", "27436767", "24928908", "30763027", "24668262" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Developmental and epileptic encephalopathy 34, MIM# 616645", "{Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "KIAA0905", "ABP125", "ABP130" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17052", "gene_name": "SEC31 homolog A, COPII coat complex component", "omim_gene": [ "610257" ], "alias_name": null, "gene_symbol": "SEC31A", "hgnc_symbol": "SEC31A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:83739814-83822319", "ensembl_id": "ENSG00000138674" } }, "GRch38": { "90": { "location": "4:82818661-82901166", "ensembl_id": "ENSG00000138674" } } }, "hgnc_date_symbol_changed": "2006-09-07" }, "entity_type": "gene", "entity_name": "SEC31A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30464055", "40508110" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Halperin-Birk syndrome, MIM# \t618651" ], "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": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "CI-49" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7708", "gene_name": "NADH:ubiquinone oxidoreductase core subunit S2", "omim_gene": [ "602985" ], "alias_name": [ "complex I 49kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial" ], "gene_symbol": "NDUFS2", "hgnc_symbol": "NDUFS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:161166894-161184185", "ensembl_id": "ENSG00000158864" } }, "GRch38": { "90": { "location": "1:161197104-161214395", "ensembl_id": "ENSG00000158864" } } }, "hgnc_date_symbol_changed": "1992-06-30" }, "entity_type": "gene", "entity_name": "NDUFS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28031252", "31411514", "22036843", "20819849", "11220739", "23266820", "31411514" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Mitochondrial Flagship" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 203, "hash_id": null, "name": "Mitochondrial disease", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.", "status": "public", "version": "1.16", "version_created": "2026-03-13T18:22:35.610861+11:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 438, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SCO1L" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10604", "gene_name": "SCO2, cytochrome c oxidase assembly protein", "omim_gene": [ "604272" ], "alias_name": null, "gene_symbol": "SCO2", "hgnc_symbol": "SCO2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:50961997-50964868", "ensembl_id": "ENSG00000130489" } }, "GRch38": { "90": { "location": "22:50523568-50525606", "ensembl_id": "ENSG00000130489" } } }, "hgnc_date_symbol_changed": "1999-10-12" }, "entity_type": "gene", "entity_name": "SCO2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 205, "hash_id": null, "name": "Callosome", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.593", "version_created": "2026-04-02T11:47:10.809612+11:00", "relevant_disorders": [ "Abnormal corpus callosum morphology", "HP:0001273" ], "stats": { "number_of_genes": 459, "number_of_strs": 2, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MG61", "PORC", "PPN", "por" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17652", "gene_name": "porcupine O-acyltransferase", "omim_gene": [ "300651" ], "alias_name": null, "gene_symbol": "PORCN", "hgnc_symbol": "PORCN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:48367350-48379202", "ensembl_id": "ENSG00000102312" } }, "GRch38": { "90": { "location": "X:48508962-48520814", "ensembl_id": "ENSG00000102312" } } }, "hgnc_date_symbol_changed": "2004-05-12" }, "entity_type": "gene", "entity_name": "PORCN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 205, "hash_id": null, "name": "Callosome", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.593", "version_created": "2026-04-02T11:47:10.809612+11:00", "relevant_disorders": [ "Abnormal corpus callosum morphology", "HP:0001273" ], "stats": { "number_of_genes": 459, "number_of_strs": 2, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZp762H1311", "FLJ22445", "JBTS15" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12370", "gene_name": "centrosomal protein 41", "omim_gene": [ "610523" ], "alias_name": null, "gene_symbol": "CEP41", "hgnc_symbol": "CEP41", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:130033612-130082274", "ensembl_id": "ENSG00000106477" } }, "GRch38": { "90": { "location": "7:130393771-130442433", "ensembl_id": "ENSG00000106477" } } }, "hgnc_date_symbol_changed": "2011-10-04" }, "entity_type": "gene", "entity_name": "CEP41", "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": [ "ZCW3", "KIAA0852", "AC004542.C22.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23573", "gene_name": "MORC family CW-type zinc finger 2", "omim_gene": [ "616661" ], "alias_name": null, "gene_symbol": "MORC2", "hgnc_symbol": "MORC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:31321117-31364284", "ensembl_id": "ENSG00000133422" } }, "GRch38": { "90": { "location": "22:30925130-30968298", "ensembl_id": "ENSG00000133422" } } }, "hgnc_date_symbol_changed": "2005-06-15" }, "entity_type": "gene", "entity_name": "MORC2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32693025" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090", "Developmental delay", "Intellectual disability", "Growth retardation", "Microcephaly", "Craniofacial dysmorphism", "Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688" ], "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": [ "PSF2", "RING11", "D6S217E" ], "biotype": "protein_coding", "hgnc_id": "HGNC:44", "gene_name": "transporter 2, ATP binding cassette subfamily B member", "omim_gene": [ "170261" ], "alias_name": null, "gene_symbol": "TAP2", "hgnc_symbol": "TAP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:32789610-32806557", "ensembl_id": "ENSG00000204267" } }, "GRch38": { "90": { "location": "6:32821833-32838780", "ensembl_id": "ENSG00000204267" } } }, "hgnc_date_symbol_changed": "1992-06-25" }, "entity_type": "gene", "entity_name": "TAP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "7517574", "9232449", "10560675", "27861817" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "MHC class I deficiency 2, MIM#\t620813", "Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571", "Low CD8", "absent MHC I on lymphocytes", "Vasculitis", "pyoderma gangrenosum", "recurrent bacterial/viral respiratory infections", "bronchiectasis" ], "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": "1.145", "version_created": "2026-03-02T21:55:19.238904+11:00", "relevant_disorders": [ "Combined immunodeficiency", "MONDO:0015131; Combined immunodeficiency", "HP:0005387" ], "stats": { "number_of_genes": 170, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1358", "gene_name": "complement C9", "omim_gene": [ "120940" ], "alias_name": null, "gene_symbol": "C9", "hgnc_symbol": "C9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:39284364-39424970", "ensembl_id": "ENSG00000113600" } }, "GRch38": { "90": { "location": "5:39284262-39424868", "ensembl_id": "ENSG00000113600" } } }, "hgnc_date_symbol_changed": "1989-03-08" }, "entity_type": "gene", "entity_name": "C9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9570574", "9703418", "9144525", "31440263", "9634479" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "C9 deficiency MIM#613825" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": [ "TIP60", "PLIP", "cPLA2", "HTATIP1", "ESA1", "ZC2HC5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5275", "gene_name": "lysine acetyltransferase 5", "omim_gene": [ "601409" ], "alias_name": [ "Tat interacting protein, 60kDa", "K-acetyltransferase 5" ], "gene_symbol": "KAT5", "hgnc_symbol": "KAT5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:65479467-65487075", "ensembl_id": "ENSG00000172977" } }, "GRch38": { "90": { "location": "11:65711996-65719604", "ensembl_id": "ENSG00000172977" } } }, "hgnc_date_symbol_changed": "2008-07-04" }, "entity_type": "gene", "entity_name": "KAT5", "confidence_level": "3", "penetrance": 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": [ "32822602" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103", "Severe global developmental delay", "Intellectual disability", "Seizures", "Microcephaly", "Behavioral abnormality", "Sleep disturbance", "Morphological abnormality of the central nervous system", "Short stature", "Oral cleft", "Abnormality of the face" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, 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": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "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": [ "hWNT5A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12784", "gene_name": "Wnt family member 5A", "omim_gene": [ "164975" ], "alias_name": [ "WNT-5A protein" ], "gene_symbol": "WNT5A", "hgnc_symbol": "WNT5A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:55499743-55523973", "ensembl_id": "ENSG00000114251" } }, "GRch38": { "90": { "location": "3:55465715-55490539", "ensembl_id": "ENSG00000114251" } } }, "hgnc_date_symbol_changed": "1993-07-06" }, "entity_type": "gene", "entity_name": "WNT5A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Robinow syndrome, autosomal dominant 1", "OMIM# 180700" ], "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": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "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": [ "Gem" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17493", "gene_name": "geminin, DNA replication inhibitor", "omim_gene": [ "602842" ], "alias_name": null, "gene_symbol": "GMNN", "hgnc_symbol": "GMNN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:24775159-24786327", "ensembl_id": "ENSG00000112312" } }, "GRch38": { "90": { "location": "6:24774931-24786099", "ensembl_id": "ENSG00000112312" } } }, "hgnc_date_symbol_changed": "2002-08-19" }, "entity_type": "gene", "entity_name": "GMNN", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26637980" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Meier-Gorlin syndrome 6, MIM#\t616835" ], "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": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "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": [ "cblG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7468", "gene_name": "5-methyltetrahydrofolate-homocysteine methyltransferase", "omim_gene": [ "156570" ], "alias_name": null, "gene_symbol": "MTR", "hgnc_symbol": "MTR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:236958610-237067281", "ensembl_id": "ENSG00000116984" } }, "GRch38": { "90": { "location": "1:236795281-236903981", "ensembl_id": "ENSG00000116984" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "MTR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8968736", "8968737", "9683607", "12068375" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940" ], "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": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "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": [ "HSPC192", "FLJ10595", "FLJ21788", "LARS1", "LEUS", "RNTLS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6512", "gene_name": "leucyl-tRNA synthetase", "omim_gene": [ "151350" ], "alias_name": [ "leucine tRNA ligase 1, cytoplasmic" ], "gene_symbol": "LARS", "hgnc_symbol": "LARS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:145492601-145562223", "ensembl_id": "ENSG00000133706" } }, "GRch38": { "90": { "location": "5:146113038-146182660", "ensembl_id": "ENSG00000133706" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "LARS", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "32699352" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Infantile liver failure syndrome 1, MIM# 615438", "Seizures", "Intellectual disability", "Encephalopathy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 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": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "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": [ "BLOS1", "BORCS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4200", "gene_name": "biogenesis of lysosomal organelles complex 1 subunit 1", "omim_gene": [ "601444" ], "alias_name": [ "GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1", "BLOC-1 Subunit 1", "Biogenesis of Lysosome-related Organelles complex-1 Subunit 1" ], "gene_symbol": "BLOC1S1", "hgnc_symbol": "BLOC1S1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:56109820-56113871", "ensembl_id": "ENSG00000135441" } }, "GRch38": { "90": { "location": "12:55716037-55720087", "ensembl_id": "ENSG00000135441" } } }, "hgnc_date_symbol_changed": "2004-05-26" }, "entity_type": "gene", "entity_name": "BLOC1S1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33875846" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, BLOC1S1-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "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": [ "KIAA0024", "PSSA", "PSS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9587", "gene_name": "phosphatidylserine synthase 1", "omim_gene": [ "612792" ], "alias_name": null, "gene_symbol": "PTDSS1", "hgnc_symbol": "PTDSS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:97273943-97349223", "ensembl_id": "ENSG00000156471" } }, "GRch38": { "90": { "location": "8:96261715-96336995", "ensembl_id": "ENSG00000156471" } } }, "hgnc_date_symbol_changed": "2000-01-21" }, "entity_type": "gene", "entity_name": "PTDSS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24241535", "29341480", "31403251" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Lenz-Majewski hyperostotic dwarfism MIM#151050" ], "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": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "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": [ "JBTS12" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30497", "gene_name": "kinesin family member 7", "omim_gene": [ "611254" ], "alias_name": null, "gene_symbol": "KIF7", "hgnc_symbol": "KIF7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:90152020-90198682", "ensembl_id": "ENSG00000166813" } }, "GRch38": { "90": { "location": "15:89608789-89655451", "ensembl_id": "ENSG00000166813" } } }, "hgnc_date_symbol_changed": "2005-02-07" }, "entity_type": "gene", "entity_name": "KIF7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Illumina TruGenome Clinical Sequencing Services", "UKGTN", "Radboud University Medical Center, Nijmegen", "Expert Review Green", "NHS GMS", "Expert list", "Emory Genetics Laboratory", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hydrolethalus syndrome 2 614120", "Acrocallosal syndrome 200990", "Joubert syndrome 12 200990", "Al-Gazali-Bakalinova syndrome 607131" ], "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": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "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": null }, { "gene_data": { "alias": [ "FLJ12240", "L19", "KIAA0999", "QSK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29165", "gene_name": "SIK family kinase 3", "omim_gene": [ "614776" ], "alias_name": null, "gene_symbol": "SIK3", "hgnc_symbol": "SIK3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:116714118-116969153", "ensembl_id": "ENSG00000160584" } }, "GRch38": { "90": { "location": "11:116843402-117098437", "ensembl_id": "ENSG00000160584" } } }, "hgnc_date_symbol_changed": "2009-09-04" }, "entity_type": "gene", "entity_name": "SIK3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30232230", "22318228" ], "evidence": [ "Expert Review Amber", "Literature", "Expert list" ], "phenotypes": [ "Spondyloepimetaphyseal dysplasia, Krakow type - #618162" ], "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": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "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": null }, { "gene_data": { "alias": [ "IDD", "MED", "EDM3", "FLJ90759", "DJ885L7.4.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2219", "gene_name": "collagen type IX alpha 3 chain", "omim_gene": [ "120270" ], "alias_name": [ "collagen type IX proteoglycan" ], "gene_symbol": "COL9A3", "hgnc_symbol": "COL9A3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:61447596-61472511", "ensembl_id": "ENSG00000092758" } }, "GRch38": { "90": { "location": "20:62816244-62841159", "ensembl_id": "ENSG00000092758" } } }, "hgnc_date_symbol_changed": "1995-08-15" }, "entity_type": "gene", "entity_name": "COL9A3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Illumina TruGenome Clinical Sequencing Services", "Expert", "Expert Review", "Expert Review Green", "NHS GMS", "Emory Genetics Laboratory", "Victorian Clinical Genetics Services" ], "phenotypes": [ "MED", "Mutiple Epiphyseal Dysplasia", "Multiple Epiphyseal Dysplasia, Dominant", "Epiphyseal dysplasia, multiple, with myopathy", "Stickler syndrome type VI", "multiple epiphyseal dysplasia", "multiple epiphyseal dysplasia 3, with or without myopathy - 600969" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "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": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4454", "gene_name": "glypican 6", "omim_gene": [ "604404" ], "alias_name": [ "glypican proteoglycan 6" ], "gene_symbol": "GPC6", "hgnc_symbol": "GPC6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:93879095-95059655", "ensembl_id": "ENSG00000183098" } }, "GRch38": { "90": { "location": "13:93226842-94407401", "ensembl_id": "ENSG00000183098" } } }, "hgnc_date_symbol_changed": "1999-05-24" }, "entity_type": "gene", "entity_name": "GPC6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19481194", "32655339" ], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "Omodysplasia 1 MIM#258315" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "SV/CNV" ], "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": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "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": 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": [ "Royal Melbourne Hospital", "Expert Review Green" ], "phenotypes": [ "Wolman disease, Cholesterol ester storage disease" ], "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": null }, { "gene_data": { "alias": [ "NKX2.2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7835", "gene_name": "NK2 homeobox 2", "omim_gene": [ "604612" ], "alias_name": null, "gene_symbol": "NKX2-2", "hgnc_symbol": "NKX2-2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:21491648-21494664", "ensembl_id": "ENSG00000125820" } }, "GRch38": { "90": { "location": "20:21511010-21514026", "ensembl_id": "ENSG00000125820" } } }, "hgnc_date_symbol_changed": "2002-10-04" }, "entity_type": "gene", "entity_name": "NKX2-2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24411943", "9584121" ], "evidence": [ "Expert Review Green", "UKGTN" ], "phenotypes": [ "Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3093, "hash_id": null, "name": "Monogenic Diabetes", "disease_group": "Endocrine disorders", "disease_sub_group": "", "description": "This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).", "status": "public", "version": "0.224", "version_created": "2026-04-06T18:03:06.439122+10:00", "relevant_disorders": [ "Diabetes mellitus", "HP:0000819" ], "stats": { "number_of_genes": 109, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:969", "gene_name": "Bardet-Biedl syndrome 4", "omim_gene": [ "600374" ], "alias_name": null, "gene_symbol": "BBS4", "hgnc_symbol": "BBS4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:72978527-73030817", "ensembl_id": "ENSG00000140463" } }, "GRch38": { "90": { "location": "15:72686179-72738476", "ensembl_id": "ENSG00000140463" } } }, "hgnc_date_symbol_changed": "1995-07-11" }, "entity_type": "gene", "entity_name": "BBS4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Bardet-Biedl syndrome 4, 615982 (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": [ "COX3", "COIII", "CO3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7422", "gene_name": "mitochondrially encoded cytochrome c oxidase III", "omim_gene": [ "516050" ], "alias_name": null, "gene_symbol": "MT-CO3", "hgnc_symbol": "MT-CO3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:9207-9990", "ensembl_id": "ENSG00000198938" } }, "GRch38": { "90": { "location": "MT:9207-9990", "ensembl_id": "ENSG00000198938" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-CO3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20525945", "11063732", "33863631", "34054915", "8630495", "9634511", "12414820", "21163656", "16288875", "8630495", "9634511" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Mitochondrial disease MONDO:0044970, MT-CO3-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "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": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11191", "gene_name": "SRY-box 11", "omim_gene": [ "600898" ], "alias_name": [ "SRY-related HMG-box gene 11" ], "gene_symbol": "SOX11", "hgnc_symbol": "SOX11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:5832799-5841516", "ensembl_id": "ENSG00000176887" } }, "GRch38": { "90": { "location": "2:5692667-5701385", "ensembl_id": "ENSG00000176887" } } }, "hgnc_date_symbol_changed": "1995-06-08" }, "entity_type": "gene", "entity_name": "SOX11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29459093", "24886874", "33086258", "33785884", "35642566", "35341651" ], "evidence": [ "Expert Review Green", "Expert Review", "Expert Review", "Expert Review" ], "phenotypes": [ "Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3236, "hash_id": null, "name": "Pituitary hormone deficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.208", "version_created": "2026-04-02T15:15:10.893013+11:00", "relevant_disorders": [ "Hypopituitarism", "HP:0040075" ], "stats": { "number_of_genes": 118, "number_of_strs": 1, "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": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIR2.6", "TTPP2" ], "biotype": null, "hgnc_id": "HGNC:39080", "gene_name": "potassium voltage-gated channel subfamily J member 18", "omim_gene": [ "613236" ], "alias_name": null, "gene_symbol": "KCNJ18", "hgnc_symbol": "KCNJ18", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch38": { "90": { "location": "17:21692523-21704612", "ensembl_id": "ENSG00000260458" } } }, "hgnc_date_symbol_changed": "2010-10-05" }, "entity_type": "gene", "entity_name": "KCNJ18", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Hypokalaemic periodic paralysis" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [ "HSS", "FLJ11729", "PKAN", "HARP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15894", "gene_name": "pantothenate kinase 2", "omim_gene": [ "606157" ], "alias_name": [ "Hallervorden-Spatz syndrome" ], "gene_symbol": "PANK2", "hgnc_symbol": "PANK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:3869486-3907605", "ensembl_id": "ENSG00000125779" } }, "GRch38": { "90": { "location": "20:3888839-3929882", "ensembl_id": "ENSG00000125779" } } }, "hgnc_date_symbol_changed": "2002-09-06" }, "entity_type": "gene", "entity_name": "PANK2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Neurodegeneration with brain iron accumulation 1" ], "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": [ "ACAD2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6186", "gene_name": "isovaleryl-CoA dehydrogenase", "omim_gene": [ "607036" ], "alias_name": null, "gene_symbol": "IVD", "hgnc_symbol": "IVD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:40697686-40728146", "ensembl_id": "ENSG00000128928" } }, "GRch38": { "90": { "location": "15:40405795-40435947", "ensembl_id": "ENSG00000128928" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "IVD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Isovaleric acidemia" ], "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": [ "PBP", "Pc-1", "TRPP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9008", "gene_name": "polycystin 1, transient receptor potential channel interacting", "omim_gene": [ "601313" ], "alias_name": [ "polycystin 1", "transient receptor potential cation channel, subfamily P, member 1" ], "gene_symbol": "PKD1", "hgnc_symbol": "PKD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:2138711-2185899", "ensembl_id": "ENSG00000008710" } }, "GRch38": { "90": { "location": "16:2088710-2135898", "ensembl_id": "ENSG00000008710" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PKD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Polycystic kidney disease" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [ "ERYF1", "NFE1", "GATA-1", "NF-E1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4170", "gene_name": "GATA binding protein 1", "omim_gene": [ "305371" ], "alias_name": [ "nuclear factor, erythroid 1" ], "gene_symbol": "GATA1", "hgnc_symbol": "GATA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:48644962-48652716", "ensembl_id": "ENSG00000102145" } }, "GRch38": { "90": { "location": "X:48786554-48794311", "ensembl_id": "ENSG00000102145" } } }, "hgnc_date_symbol_changed": "1990-09-10" }, "entity_type": "gene", "entity_name": "GATA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30228860", "24766296", "22706301" ], "evidence": [ "Expert Review Green", "Yorkshire and North East GLH", "NHS GMS", "Wessex and West Midlands GLH", "North West GLH", "London South GLH", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367", "Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3366, "hash_id": null, "name": "Red cell disorders", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.", "status": "public", "version": "1.52", "version_created": "2026-03-28T15:18:36.006857+11:00", "relevant_disorders": [ "Abnormal erythrocyte morphology", "HP:0001877" ], "stats": { "number_of_genes": 116, "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": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:132", "gene_name": "actin beta", "omim_gene": [ "102630" ], "alias_name": null, "gene_symbol": "ACTB", "hgnc_symbol": "ACTB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:5566782-5603415", "ensembl_id": "ENSG00000075624" } }, "GRch38": { "90": { "location": "7:5527151-5563784", "ensembl_id": "ENSG00000075624" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ACTB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22366783" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "Baraitser-Winter syndrome 1, MIM# 243310" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "p51", "SHFM4", "EEC3", "p63", "p73L", "OFC8", "KET", "p73H", "NBP", "p53CP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15979", "gene_name": "tumor protein p63", "omim_gene": [ "603273" ], "alias_name": null, "gene_symbol": "TP63", "hgnc_symbol": "TP63", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:189349205-189615068", "ensembl_id": "ENSG00000073282" } }, "GRch38": { "90": { "location": "3:189631416-189897279", "ensembl_id": "ENSG00000073282" } } }, "hgnc_date_symbol_changed": "2002-04-18" }, "entity_type": "gene", "entity_name": "TP63", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Radboud University Medical Center, Nijmegen", "UKGTN", "Illumina TruGenome Clinical Sequencing Services" ], "phenotypes": [ "TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SREC-II", "SREC2", "HUMZD58C02" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19869", "gene_name": "scavenger receptor class F member 2", "omim_gene": [ "613619" ], "alias_name": null, "gene_symbol": "SCARF2", "hgnc_symbol": "SCARF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:20778874-20792146", "ensembl_id": "ENSG00000244486" } }, "GRch38": { "90": { "location": "22:20424815-20437826", "ensembl_id": "ENSG00000244486" } } }, "hgnc_date_symbol_changed": "2003-02-13" }, "entity_type": "gene", "entity_name": "SCARF2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green" ], "phenotypes": [ "VDEGS", "VAN DEN ENDE-GUPTA SYNDROME" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "IG_C_gene", "hgnc_id": "HGNC:5525", "gene_name": "immunoglobulin heavy constant gamma 1 (G1m marker)", "omim_gene": [ "147100" ], "alias_name": null, "gene_symbol": "IGHG1", "hgnc_symbol": "IGHG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:106202680-106209408", "ensembl_id": "ENSG00000211896" } }, "GRch38": { "90": { "location": "14:105736343-105743071", "ensembl_id": "ENSG00000211896" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "IGHG1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "NSW Health Pathology", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 3437, "hash_id": null, "name": "Incidentalome_PREGEN_DRAFT", "disease_group": "", "disease_sub_group": "", "description": "Imported to facilitate update work. Do not use while labeled as DRAFT", "status": "public", "version": "0.43", "version_created": "2021-01-20T16:42:09.286633+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 173, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MTBT1", "tau", "PPND", "FTDP-17", "TAU", "MSTD", "MTBT2", "FLJ31424", "MGC138549", "PPP1R103" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6893", "gene_name": "microtubule associated protein tau", "omim_gene": [ "157140" ], "alias_name": [ "G protein beta1/gamma2 subunit-interacting factor 1", "microtubule-associated protein tau, isoform 4", "protein phosphatase 1, regulatory subunit 103" ], "gene_symbol": "MAPT", "hgnc_symbol": "MAPT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:43971748-44105700", "ensembl_id": "ENSG00000186868" } }, "GRch38": { "90": { "location": "17:45894382-46028334", "ensembl_id": "ENSG00000186868" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "MAPT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "NSW Health Pathology", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 3437, "hash_id": null, "name": "Incidentalome_PREGEN_DRAFT", "disease_group": "", "disease_sub_group": "", "description": "Imported to facilitate update work. Do not use while labeled as DRAFT", "status": "public", "version": "0.43", "version_created": "2021-01-20T16:42:09.286633+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 173, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FALDH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:403", "gene_name": "aldehyde dehydrogenase 3 family member A2", "omim_gene": [ "609523" ], "alias_name": [ "fatty aldehyde dehydrogenase" ], "gene_symbol": "ALDH3A2", "hgnc_symbol": "ALDH3A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:19551449-19580911", "ensembl_id": "ENSG00000072210" } }, "GRch38": { "90": { "location": "17:19648136-19677598", "ensembl_id": "ENSG00000072210" } } }, "hgnc_date_symbol_changed": "1996-06-14" }, "entity_type": "gene", "entity_name": "ALDH3A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "8528251", "31273323" ], "evidence": [ "Expert Review Green", "NHS GMS", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Sjogren-Larsson syndrome MIM#270200", "disorder of lipid metabolism" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3468, "hash_id": null, "name": "Miscellaneous Metabolic Disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.60", "version_created": "2026-01-15T15:39:27.439934+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 149, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HSPC150", "FANCT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25009", "gene_name": "ubiquitin conjugating enzyme E2 T", "omim_gene": [ "610538" ], "alias_name": null, "gene_symbol": "UBE2T", "hgnc_symbol": "UBE2T", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:202300785-202311108", "ensembl_id": "ENSG00000077152" } }, "GRch38": { "90": { "location": "1:202331657-202341980", "ensembl_id": "ENSG00000077152" } } }, "hgnc_date_symbol_changed": "2005-03-21" }, "entity_type": "gene", "entity_name": "UBE2T", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26046368", "32646888" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Fanconi anemia, complementation group T, MIM# 616435" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": "1.102", "version_created": "2026-04-01T10:17:12.005431+11:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 4 }, "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": null }, { "gene_data": { "alias": [ "TEM8", "FLJ21776", "FLJ10601", "ATR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21014", "gene_name": "anthrax toxin receptor 1", "omim_gene": [ "606410" ], "alias_name": [ "anthrax toxin receptor", "tumor endothelial marker 8 precursor" ], "gene_symbol": "ANTXR1", "hgnc_symbol": "ANTXR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:69240310-69476459", "ensembl_id": "ENSG00000169604" } }, "GRch38": { "90": { "location": "2:69013178-69249327", "ensembl_id": "ENSG00000169604" } } }, "hgnc_date_symbol_changed": "2003-08-27" }, "entity_type": "gene", "entity_name": "ANTXR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23602711", "25045128", "31425299", "30575274", "29436111", "28870703" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "GAPO syndrome, MIM# 230740" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": "1.102", "version_created": "2026-04-01T10:17:12.005431+11:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 4 }, "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:4612", "gene_name": "goosecoid homeobox", "omim_gene": [ "138890" ], "alias_name": null, "gene_symbol": "GSC", "hgnc_symbol": "GSC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:95234553-95236562", "ensembl_id": "ENSG00000133937" } }, "GRch38": { "90": { "location": "14:94768216-94770230", "ensembl_id": "ENSG00000133937" } } }, "hgnc_date_symbol_changed": "1993-12-13" }, "entity_type": "gene", "entity_name": "GSC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert list", "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3729, "hash_id": null, "name": "Hand and foot malformations", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.", "status": "public", "version": "0.89", "version_created": "2026-04-07T13:49:34.993963+10:00", "relevant_disorders": [ "Abnormal hand morphology", "HP:0005922; Abnormal foot morphology", "HP:0001760" ], "stats": { "number_of_genes": 101, "number_of_strs": 1, "number_of_regions": 5 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TGT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12612", "gene_name": "ubiquitin specific peptidase 14", "omim_gene": [ "607274" ], "alias_name": null, "gene_symbol": "USP14", "hgnc_symbol": "USP14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:158383-214629", "ensembl_id": "ENSG00000101557" } }, "GRch38": { "90": { "location": "18:158383-214629", "ensembl_id": "ENSG00000101557" } } }, "hgnc_date_symbol_changed": "1999-02-01" }, "entity_type": "gene", "entity_name": "USP14", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 35066879", "38469793" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Syndromic disease MONDO:0002254, USP14-related", "Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features" ], "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": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "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": [] }, { "gene_data": { "alias": [ "GALA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4296", "gene_name": "galactosidase alpha", "omim_gene": [ "300644" ], "alias_name": null, "gene_symbol": "GLA", "hgnc_symbol": "GLA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:100652791-100662913", "ensembl_id": "ENSG00000102393" } }, "GRch38": { "90": { "location": "X:101397803-101407925", "ensembl_id": "ENSG00000102393" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "GLA", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301469" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Fabry disease, 301500" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 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": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "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": [ "FLJ36147", "XTP7" ], "biotype": null, "hgnc_id": "HGNC:30162", "gene_name": "exocyst complex component 3 like 2", "omim_gene": [ "616927" ], "alias_name": null, "gene_symbol": "EXOC3L2", "hgnc_symbol": "EXOC3L2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:45715879-45737469", "ensembl_id": "ENSG00000130201" } }, "GRch38": { "90": { "location": "19:45212621-45245431", "ensembl_id": "ENSG00000283632" } } }, "hgnc_date_symbol_changed": "2007-01-19" }, "entity_type": "gene", "entity_name": "EXOC3L2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28749478", "27894351", "30327448", "34974531" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Brain malformation renal syndrome, MIM# 620943" ], "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": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "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:3687", "gene_name": "fibroblast growth factor 9", "omim_gene": [ "600921" ], "alias_name": [ "glia-activating factor" ], "gene_symbol": "FGF9", "hgnc_symbol": "FGF9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:22245522-22278637", "ensembl_id": "ENSG00000102678" } }, "GRch38": { "90": { "location": "13:21671383-21704498", "ensembl_id": "ENSG00000102678" } } }, "hgnc_date_symbol_changed": "1995-08-15" }, "entity_type": "gene", "entity_name": "FGF9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33140402", "28730625", "19589401", "33174625", "19219044", "28730625" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Multiple synostoses syndrome 3, OMIM # 612961", "Craniosynostosis" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "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": [ "Kop", "HAI-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11247", "gene_name": "serine peptidase inhibitor, Kunitz type 2", "omim_gene": [ "605124" ], "alias_name": [ "placental bikunin" ], "gene_symbol": "SPINT2", "hgnc_symbol": "SPINT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:38734675-38783254", "ensembl_id": "ENSG00000167642" } }, "GRch38": { "90": { "location": "19:38244035-38292614", "ensembl_id": "ENSG00000167642" } } }, "hgnc_date_symbol_changed": "1999-07-23" }, "entity_type": "gene", "entity_name": "SPINT2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30445423", "19185281" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Diarrhoea 3, secretory sodium, congenital, syndromic, MIM#270420" ], "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": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "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": [ "FLJ12229", "COQ8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19041", "gene_name": "coenzyme Q8B", "omim_gene": [ "615567" ], "alias_name": null, "gene_symbol": "COQ8B", "hgnc_symbol": "COQ8B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:41197434-41224112", "ensembl_id": "ENSG00000123815" } }, "GRch38": { "90": { "location": "19:40691529-40718207", "ensembl_id": "ENSG00000123815" } } }, "hgnc_date_symbol_changed": "2016-07-07" }, "entity_type": "gene", "entity_name": "COQ8B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "PMID: 35483523" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Nephrotic syndrome, type 9, 615573 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "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:2212", "gene_name": "collagen type VI alpha 2 chain", "omim_gene": [ "120240" ], "alias_name": null, "gene_symbol": "COL6A2", "hgnc_symbol": "COL6A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:47518011-47552763", "ensembl_id": "ENSG00000142173" } }, "GRch38": { "90": { "location": "21:46098097-46132849", "ensembl_id": "ENSG00000142173" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "COL6A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Bethlem myopathy 1B, MIM# 620725", "Ullrich congenital muscular dystrophy 1B, MIM# 620727" ], "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": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "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": [ "P450c21B", "CA21H", "CPS1", "CAH1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2600", "gene_name": "cytochrome P450 family 21 subfamily A member 2", "omim_gene": [ "613815" ], "alias_name": [ "Steroid 21-monooxygenase" ], "gene_symbol": "CYP21A2", "hgnc_symbol": "CYP21A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:32006042-32009447", "ensembl_id": "ENSG00000231852" } }, "GRch38": { "90": { "location": "6:32038265-32041670", "ensembl_id": "ENSG00000231852" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "CYP21A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "BabySeq Category A gene", "BeginNGS" ], "phenotypes": [ "Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, MIM#201910" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "endocrine", "technically challenging" ], "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": [ "COQ8", "SCAR9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16812", "gene_name": "coenzyme Q8A", "omim_gene": [ "606980" ], "alias_name": [ "coenzyme Q8 homolog (yeast)" ], "gene_symbol": "COQ8A", "hgnc_symbol": "COQ8A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:227085237-227175246", "ensembl_id": "ENSG00000163050" } }, "GRch38": { "90": { "location": "1:226897536-226987545", "ensembl_id": "ENSG00000163050" } } }, "hgnc_date_symbol_changed": "2016-07-07" }, "entity_type": "gene", "entity_name": "COQ8A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32337771" ], "evidence": [ "Expert Review Green", "BeginNGS" ], "phenotypes": [ "Coenzyme Q10 deficiency, primary, 4, MIM#\t612016" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "metabolic" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RDRTA2", "VPP2", "RTADR", "a4", "Vph1", "Stv1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:866", "gene_name": "ATPase H+ transporting V0 subunit a4", "omim_gene": [ "605239" ], "alias_name": null, "gene_symbol": "ATP6V0A4", "hgnc_symbol": "ATP6V0A4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:138391040-138484305", "ensembl_id": "ENSG00000105929" } }, "GRch38": { "90": { "location": "7:138706295-138799560", "ensembl_id": "ENSG00000105929" } } }, "hgnc_date_symbol_changed": "2002-05-10" }, "entity_type": "gene", "entity_name": "ATP6V0A4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10973252", "12414817" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Renal tubular acidosis, distal, autosomal recessive, MIM#602722" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3993, "hash_id": null, "name": "Renal Tubulopathies and related disorders", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.", "status": "public", "version": "1.26", "version_created": "2026-03-30T10:01:51.458813+11:00", "relevant_disorders": [ "Renal tubular dysfunction", "HP:0000124; Nephrolithiasis", "HP:0000787; Abnormal circulating aldosterone", "HP:0040085" ], "stats": { "number_of_genes": 134, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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" }, { "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." } ], "child_panel_ids": [] }, "transcript": null }, { "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": "", "publications": [ "6624548", "30720493" ], "evidence": [ "Expert Review Green", "KidGen_MetabolicRenal v38.1.0", "Expert Review Green" ], "phenotypes": [ "Norum disease MIM#245900", "Fish-Eye disease, MIM# 136120" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3993, "hash_id": null, "name": "Renal Tubulopathies and related disorders", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.", "status": "public", "version": "1.26", "version_created": "2026-03-30T10:01:51.458813+11:00", "relevant_disorders": [ "Renal tubular dysfunction", "HP:0000124; Nephrolithiasis", "HP:0000787; Abnormal circulating aldosterone", "HP:0040085" ], "stats": { "number_of_genes": 134, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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" }, { "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." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NOT56L", "Not56", "CDGS4", "D16Ertd36e" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23056", "gene_name": "ALG3, alpha-1,3- mannosyltransferase", "omim_gene": [ "608750" ], "alias_name": [ "carbohydrate deficient glycoprotein syndrome type IV", "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "dol-P-Man dependent alpha-1,3- mannosyltransferase" ], "gene_symbol": "ALG3", "hgnc_symbol": "ALG3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:183960089-183967336", "ensembl_id": "ENSG00000214160" } }, "GRch38": { "90": { "location": "3:184242301-184249548", "ensembl_id": "ENSG00000214160" } } }, "hgnc_date_symbol_changed": "2003-10-15" }, "entity_type": "gene", "entity_name": "ALG3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31067009", "10581255", "15840742" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Congenital disorder of glycosylation, type Id, MIM#601110" ], "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": "2.0", "version_created": "2025-05-30T02:52:12.758302+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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7329", "gene_name": "mutS homolog 6", "omim_gene": [ "600678" ], "alias_name": null, "gene_symbol": "MSH6", "hgnc_symbol": "MSH6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:47922669-48037240", "ensembl_id": "ENSG00000116062" } }, "GRch38": { "90": { "location": "2:47695530-47810101", "ensembl_id": "ENSG00000116062" } } }, "hgnc_date_symbol_changed": "1995-08-29" }, "entity_type": "gene", "entity_name": "MSH6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Malignant pancreatic neoplasm, MONDO:0009831", "Lynch syndrome 5, MONDO:0013710", "Mismatch repair cancer syndrome 3, MONDO:0030841", "Lynch syndrome 5, MIM#614350", "Mismatch repair cancer syndrome 3, MIM#619097" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4370, "hash_id": null, "name": "Pancreatic Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with pancreatic cancer. \r\n\r\nFurther information on the testing criteria for pancreatic cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3906-pancreatic-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with pancreatic cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:32:06.575750+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 12, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "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": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "EKN1", "FLJ37882", "CILD25" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21493", "gene_name": "dynein axonemal assembly factor 4", "omim_gene": [ "608706" ], "alias_name": [ "dynein, axonemal, assembly factor 4" ], "gene_symbol": "DNAAF4", "hgnc_symbol": "DNAAF4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:55702723-55800432", "ensembl_id": "ENSG00000256061" } }, "GRch38": { "90": { "location": "15:55410525-55508234", "ensembl_id": "ENSG00000256061" } } }, "hgnc_date_symbol_changed": "2017-03-20" }, "entity_type": "gene", "entity_name": "DNAAF4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23872636", "37674365", "37147940", "36583018", "35903363" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Primary ciliary dyskinesia 25, MIM# 615482" ], "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": "1.143", "version_created": "2026-04-13T17:24:02.975530+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 265, "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": null }, { "gene_data": { "alias": [ "bA631M21.2" ], "biotype": null, "hgnc_id": "HGNC:20773", "gene_name": "tubulin beta 8 class VIII", "omim_gene": [ "616768" ], "alias_name": [ "class VIII beta-tubulin" ], "gene_symbol": "TUBB8", "hgnc_symbol": "TUBB8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:92828-120103", "ensembl_id": "ENSG00000173876" } }, "GRch38": { "90": { "location": "10:46892-74163", "ensembl_id": "ENSG00000261456" } } }, "hgnc_date_symbol_changed": "2011-10-10" }, "entity_type": "gene", "entity_name": "TUBB8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26789871", "27273344", "33970371", "39834092" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Oocyte/zygote/embryo maturation arrest 2, MIM# 616780" ], "mode_of_inheritance": "BOTH monoallelic and 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": "1.143", "version_created": "2026-04-13T17:24:02.975530+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 265, "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": null }, { "gene_data": { "alias": [ "PEO", "PEO1", "TWINKLE", "FLJ21832", "TWINL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1160", "gene_name": "twinkle mtDNA helicase", "omim_gene": [ "606075" ], "alias_name": [ "T7 helicase-related protein with intramitochondrial nucleoid localization" ], "gene_symbol": "TWNK", "hgnc_symbol": "TWNK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:102747124-102754158", "ensembl_id": "ENSG00000107815" } }, "GRch38": { "90": { "location": "10:100987367-100994401", "ensembl_id": "ENSG00000107815" } } }, "hgnc_date_symbol_changed": "2016-10-11" }, "entity_type": "gene", "entity_name": "TWNK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28178980", "26970254", "25355836", "25355836", "32281099", "31852434", "31455392" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Perrault syndrome 5, MIM# 616138" ], "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": "1.143", "version_created": "2026-04-13T17:24:02.975530+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 265, "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": null }, { "gene_data": { "alias": [ "MDS010", "MGC32995", "9630046K23Rik", "MDSRP", "hCLP46", "KDELCL1", "Rumi" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22954", "gene_name": "protein O-glucosyltransferase 1", "omim_gene": [ "615618" ], "alias_name": [ "KDELC family like 1" ], "gene_symbol": "POGLUT1", "hgnc_symbol": "POGLUT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:119187785-119213555", "ensembl_id": "ENSG00000163389" } }, "GRch38": { "90": { "location": "3:119468938-119494708", "ensembl_id": "ENSG00000163389" } } }, "hgnc_date_symbol_changed": "2010-09-29" }, "entity_type": "gene", "entity_name": "POGLUT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24387993" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Dowling-Degos disease MONDO:0008371" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PC1", "PC3", "SPC3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8743", "gene_name": "proprotein convertase subtilisin/kexin type 1", "omim_gene": [ "162150" ], "alias_name": [ "prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1" ], "gene_symbol": "PCSK1", "hgnc_symbol": "PCSK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:95726119-95769847", "ensembl_id": "ENSG00000175426" } }, "GRch38": { "90": { "location": "5:96390415-96434143", "ensembl_id": "ENSG00000175426" } } }, "hgnc_date_symbol_changed": "1991-06-07" }, "entity_type": "gene", "entity_name": "PCSK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30383237" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Obesity with impaired prohormone processing MIM#600955" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.115", "version_created": "2026-04-12T14:11:38.693654+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 84, "number_of_strs": 0, "number_of_regions": 1 }, "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 } ] }