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GET /api/v1/entities/?format=api&page=140
{ "count": 36093, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=141", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=139", "results": [ { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6325", "gene_name": "kinesin family member 5C", "omim_gene": [ "604593" ], "alias_name": null, "gene_symbol": "KIF5C", "hgnc_symbol": "KIF5C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:149632819-149883273", "ensembl_id": "ENSG00000168280" } }, "GRch38": { "90": { "location": "2:148875250-149026759", "ensembl_id": "ENSG00000168280" } } }, "hgnc_date_symbol_changed": "1998-08-24" }, "entity_type": "gene", "entity_name": "KIF5C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23603762", "23033978", "32562872" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Brain Malformations Flagship" ], "phenotypes": [ "Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 18, "hash_id": null, "name": "Polymicrogyria and Schizencephaly", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nPlease consider the broader 'Malformations of cortical development' superpanel, particularly in the presence of complex or atypical imaging findings.", "status": "public", "version": "0.207", "version_created": "2026-04-23T11:38:11.019015+10:00", "relevant_disorders": [ "Polymicrogyria", "HP:0002126;Schizencephaly", "HP:0010636" ], "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "INPP5G", "PARK20" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11503", "gene_name": "synaptojanin 1", "omim_gene": [ "604297" ], "alias_name": [ "phosphoinositide 5-phosphatase", "synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1", "inositol polyphosphate-5-phosphatase G" ], "gene_symbol": "SYNJ1", "hgnc_symbol": "SYNJ1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:34001069-34100359", "ensembl_id": "ENSG00000159082" } }, "GRch38": { "90": { "location": "21:32628759-32728048", "ensembl_id": "ENSG00000159082" } } }, "hgnc_date_symbol_changed": "1999-10-14" }, "entity_type": "gene", "entity_name": "SYNJ1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23804563", "23804577", "27496670", "33841314" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Parkinson disease 20, early-onset, MIM# 615530" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 26, "hash_id": null, "name": "Early-onset Parkinson disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "2.55", "version_created": "2026-04-17T16:01:21.596122+10:00", "relevant_disorders": [ "Abnormality of extrapyramidal motor function", "HP:0002071" ], "stats": { "number_of_genes": 129, "number_of_strs": 14, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PI31" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9571", "gene_name": "proteasome inhibitor subunit 1", "omim_gene": null, "alias_name": [ "proteasome inhibitor hP131 subunit" ], "gene_symbol": "PSMF1", "hgnc_symbol": "PSMF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:1093906-1160596", "ensembl_id": "ENSG00000125818" } }, "GRch38": { "90": { "location": "20:1113263-1189415", "ensembl_id": "ENSG00000125818" } } }, "hgnc_date_symbol_changed": "1999-04-15" }, "entity_type": "gene", "entity_name": "PSMF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 26, "hash_id": null, "name": "Early-onset Parkinson disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "2.55", "version_created": "2026-04-17T16:01:21.596122+10:00", "relevant_disorders": [ "Abnormality of extrapyramidal motor function", "HP:0002071" ], "stats": { "number_of_genes": 129, "number_of_strs": 14, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "K2p18.1", "TRESK-2", "TRESK2", "TRESK", "TRIK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19439", "gene_name": "potassium two pore domain channel subfamily K member 18", "omim_gene": [ "613655" ], "alias_name": [ "TWIK related spinal cord K+ channel" ], "gene_symbol": "KCNK18", "hgnc_symbol": "KCNK18", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:118957000-118969810", "ensembl_id": "ENSG00000186795" } }, "GRch38": { "90": { "location": "10:117197489-117210299", "ensembl_id": "ENSG00000186795" } } }, "hgnc_date_symbol_changed": "2005-01-07" }, "entity_type": "gene", "entity_name": "KCNK18", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20871611", "32394190", "30573346", "23904616", "22355750" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "{Migraine, with or without aura, susceptibility to, 13}, MIM# 613656" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 40, "hash_id": null, "name": "Alternating Hemiplegia and Hemiplegic Migraine", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH.\r\n\r\nPlease also refer to the Episodic Ataxia and Paroxysmal Dyskinesia panels.", "status": "public", "version": "1.0", "version_created": "2026-03-24T16:22:18.980474+11:00", "relevant_disorders": [ "Hemiplegia", "HP:0002301;Migraine", "HP:0002076" ], "stats": { "number_of_genes": 18, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "JNK", "JNK1", "SAPK1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6881", "gene_name": "mitogen-activated protein kinase 8", "omim_gene": [ "601158" ], "alias_name": [ "JUN N-terminal kinase" ], "gene_symbol": "MAPK8", "hgnc_symbol": "MAPK8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:49514698-49647403", "ensembl_id": "ENSG00000107643" } }, "GRch38": { "90": { "location": "10:48306639-48439360", "ensembl_id": "ENSG00000107643" } } }, "hgnc_date_symbol_changed": "1998-04-28" }, "entity_type": "gene", "entity_name": "MAPK8", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31784499" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Chronic mucocutaneous candidiasis", "Connective tissue disorders" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 44, "hash_id": null, "name": "Aortopathy_Connective Tissue Disorders", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt contains genes that cause isolated thoracic aortic aneurysm; connective tissue disorders, including Ehlers Danlos syndromes and cutis laxa; and other syndromic/multi-system disorders where connective tissue involvement is prominent.\r\n\r\nThis panel incorporates assessments from the ClinGen Familial Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel (PMID: 30071989) and the \r\nThe 2017 international classification of the Ehlers-Danlos syndromes (PMID: 28306229).\r\n\r\nThe panel has been compared against the Genomics England PanelApp 'Thoracic Aortic Aneurysm and Dissection' and 'Ehlers Danlos syndrome' panels, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England.\r\n\r\nFurther comparison and consolidation undertaken against the Genomics England/GMS 'Thoracic aortic aneurysm and dissection' panel V4.0 in July 2025.", "status": "public", "version": "1.105", "version_created": "2026-02-05T18:09:24.690760+11:00", "relevant_disorders": [ "Aortic aneurysm", "HP:0004942;Joint dislocation", "HP:0001373;Cutis laxa", "HP:0000973; Ectopia lentis", "HP:0001083;Arachnodactyly", "HP:0001166" ], "stats": { "number_of_genes": 100, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11769", "gene_name": "transforming growth factor beta 3", "omim_gene": [ "190230" ], "alias_name": [ "prepro-transforming growth factor beta-3" ], "gene_symbol": "TGFB3", "hgnc_symbol": "TGFB3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:76424442-76449334", "ensembl_id": "ENSG00000119699" } }, "GRch38": { "90": { "location": "14:75958099-75982991", "ensembl_id": "ENSG00000119699" } } }, "hgnc_date_symbol_changed": "1989-05-10" }, "entity_type": "gene", "entity_name": "TGFB3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23824657" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Loeys-Dietz syndrome 5, MI# 615582" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 47, "hash_id": null, "name": "Arthrogryposis", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.", "status": "public", "version": "1.19", "version_created": "2026-04-02T19:32:17.814766+11:00", "relevant_disorders": [ "Flexion contracture", "HP:0001371" ], "stats": { "number_of_genes": 241, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2188", "gene_name": "collagen type XII alpha 1 chain", "omim_gene": [ "120320" ], "alias_name": [ "collagen type XII proteoglycan" ], "gene_symbol": "COL12A1", "hgnc_symbol": "COL12A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:75794042-75915767", "ensembl_id": "ENSG00000111799" } }, "GRch38": { "90": { "location": "6:75084326-75206051", "ensembl_id": "ENSG00000111799" } } }, "hgnc_date_symbol_changed": "1992-03-24" }, "entity_type": "gene", "entity_name": "COL12A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28973083", "24334604" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ullrich congenital muscular dystrophy 2 , MIM# 616470" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 47, "hash_id": null, "name": "Arthrogryposis", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.", "status": "public", "version": "1.19", "version_created": "2026-04-02T19:32:17.814766+11:00", "relevant_disorders": [ "Flexion contracture", "HP:0001371" ], "stats": { "number_of_genes": 241, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "AS", "ANCR", "E6-AP", "FLJ26981" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12496", "gene_name": "ubiquitin protein ligase E3A", "omim_gene": [ "601623" ], "alias_name": [ "Angelman syndrome" ], "gene_symbol": "UBE3A", "hgnc_symbol": "UBE3A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:25582381-25684128", "ensembl_id": "ENSG00000114062" } }, "GRch38": { "90": { "location": "15:25333728-25439056", "ensembl_id": "ENSG00000114062" } } }, "hgnc_date_symbol_changed": "1993-10-21" }, "entity_type": "gene", "entity_name": "UBE3A", "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": "0.249", "version_created": "2026-04-18T18:49:11.555064+10:00", "relevant_disorders": [ "Autism", "HP:0000717" ], "stats": { "number_of_genes": 157, "number_of_strs": 0, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MASS", "OCTD", "SGS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3603", "gene_name": "fibrillin 1", "omim_gene": [ "134797" ], "alias_name": [ "Marfan syndrome", "asprosin" ], "gene_symbol": "FBN1", "hgnc_symbol": "FBN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:48700503-48938046", "ensembl_id": "ENSG00000166147" } }, "GRch38": { "90": { "location": "15:48408306-48645849", "ensembl_id": "ENSG00000166147" } } }, "hgnc_date_symbol_changed": "1987-09-11" }, "entity_type": "gene", "entity_name": "FBN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Marfan syndrome, MIM# 154700" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 54, "hash_id": null, "name": "Bleeding and Platelet Disorders", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with coagulation, platelet and blood vessel disorders that predispose to bleeding and to thrombosis.", "status": "public", "version": "1.77", "version_created": "2026-04-08T12:32:35.286494+10:00", "relevant_disorders": [ "Abnormal bleeding", "HP:0001892;Abnormal thrombosis", "HP:0001977" ], "stats": { "number_of_genes": 140, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "hCsl4p", "Csl4p", "CSL4", "Ski4p", "SKI4", "CGI-108", "p13" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17286", "gene_name": "exosome component 1", "omim_gene": [ "606493" ], "alias_name": [ "CSL4 exosomal core protein homolog (yeast)" ], "gene_symbol": "EXOSC1", "hgnc_symbol": "EXOSC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:99195899-99205774", "ensembl_id": "ENSG00000171311" } }, "GRch38": { "90": { "location": "10:97436142-97446017", "ensembl_id": "ENSG00000171311" } } }, "hgnc_date_symbol_changed": "2004-03-26" }, "entity_type": "gene", "entity_name": "EXOSC1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33463720" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Pontocerebellar hypoplasia, type 1F, MIM#\t619304" ], "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": [] }, { "gene_data": { "alias": [ "KIAA0699" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17208", "gene_name": "BICD cargo adaptor 2", "omim_gene": [ "609797" ], "alias_name": null, "gene_symbol": "BICD2", "hgnc_symbol": "BICD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:95473645-95527094", "ensembl_id": "ENSG00000185963" } }, "GRch38": { "90": { "location": "9:92711363-92764812", "ensembl_id": "ENSG00000185963" } } }, "hgnc_date_symbol_changed": "2003-11-14" }, "entity_type": "gene", "entity_name": "BICD2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35896821" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, BICD2-related (MONDO#0700092)" ], "mode_of_inheritance": "BOTH monoallelic and 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": [ "Kv3.3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6235", "gene_name": "potassium voltage-gated channel subfamily C member 3", "omim_gene": [ "176264" ], "alias_name": null, "gene_symbol": "KCNC3", "hgnc_symbol": "KCNC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:50815194-50836772", "ensembl_id": "ENSG00000131398" } }, "GRch38": { "90": { "location": "19:50311937-50333515", "ensembl_id": "ENSG00000131398" } } }, "hgnc_date_symbol_changed": "1991-08-13" }, "entity_type": "gene", "entity_name": "KCNC3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "16501573", "25497598", "25981959", "25981959" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia 13, MIM# 605259" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [] }, { "gene_data": { "alias": [ "KCa1.1", "mSLO1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6284", "gene_name": "potassium calcium-activated channel subfamily M alpha 1", "omim_gene": [ "600150" ], "alias_name": [ "BK channel alpha subunit", "maxiK channel", "big potassium channel alpha subunit" ], "gene_symbol": "KCNMA1", "hgnc_symbol": "KCNMA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:78629359-79398353", "ensembl_id": "ENSG00000156113" } }, "GRch38": { "90": { "location": "10:76869601-77638369", "ensembl_id": "ENSG00000156113" } } }, "hgnc_date_symbol_changed": "1994-12-15" }, "entity_type": "gene", "entity_name": "KCNMA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15937479", "26195193" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 74, "hash_id": null, "name": "Brain Channelopathies", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed by and is maintained by VCGS.\r\n\r\nBrain channelopathies typically cause episodes of neurological dysfunction including a combination of ataxia, dystonia, abnormal extra movements, leg stiffness, weakness, headache and nausea. The episodes can last a few minutes or hours. Some patients have a primary headache in the form of hemiplegic migraine.\r\n\r\nThe Alternating Hemiplegia_Hemiplegic Migraine, Paroxysmal Dyskinesia, Ataxia and Dystonia panels may be considered where the clinical presentation is less clearly indicative of a brain channelopathy.\r\n\r\nThis panel has been compared against the Genomics England 'Brain Channelopathy' panel with all discordances resolved and reciprocal feedback provided to Genomics England PanelApp, 20/8/20.", "status": "public", "version": "1.5", "version_created": "2025-10-16T17:46:30.269069+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "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": [ "PXAAA1", "PAF-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8859", "gene_name": "peroxisomal biogenesis factor 6", "omim_gene": [ "601498" ], "alias_name": null, "gene_symbol": "PEX6", "hgnc_symbol": "PEX6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:42931608-42946958", "ensembl_id": "ENSG00000124587" } }, "GRch38": { "90": { "location": "6:42963870-42979220", "ensembl_id": "ENSG00000124587" } } }, "hgnc_date_symbol_changed": "1997-05-22" }, "entity_type": "gene", "entity_name": "PEX6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 78, "hash_id": null, "name": "Cholestasis", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed by and is maintained by VCGS.\r\n\r\nIt includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause cholestasis.\r\n\r\nPlease also consider using the Liver Failure_Paediatric panel if clinically indicated.\r\n\r\nThe content of this panel has been compared against the Genomics England PanelApp 'Cholestasis' panel V1.21, with all discrepancies reviewed and resolved, and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.10", "version_created": "2026-03-26T17:26:27.105917+11:00", "relevant_disorders": [ "Cholestasis HP:0001396" ], "stats": { "number_of_genes": 99, "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": [ "JM2", "XPID", "AIID", "PIDX", "DIETER", "SCURFIN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6106", "gene_name": "forkhead box P3", "omim_gene": [ "300292" ], "alias_name": null, "gene_symbol": "FOXP3", "hgnc_symbol": "FOXP3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:49106897-49121288", "ensembl_id": "ENSG00000049768" } }, "GRch38": { "90": { "location": "X:49250436-49264826", "ensembl_id": "ENSG00000049768" } } }, "hgnc_date_symbol_changed": "2002-09-20" }, "entity_type": "gene", "entity_name": "FOXP3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked , MIM#304790" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [ "treatable" ], "panel": { "id": 89, "hash_id": null, "name": "Congenital Diarrhoea", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nCongenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. Severe chronic diarrhoea may be the main clinical manifestation or it may be a component of a more complex multi-organ or systemic disease.\r\n\r\nCDDs can be classified in four groups: (i) defects of digestion, absorption and transport of nutrients and electrolytes; (ii) defects of enterocyte differentiation and polarisation; (iii) defects of enteroendocrine cell differentiation; (iv) defects of modulation of intestinal immune response.", "status": "public", "version": "1.30", "version_created": "2025-11-20T10:28:34.792243+11:00", "relevant_disorders": [ "Diarrhea HP:0002014" ], "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CYP4AH1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23198", "gene_name": "cytochrome P450 family 4 subfamily V member 2", "omim_gene": [ "608614" ], "alias_name": null, "gene_symbol": "CYP4V2", "hgnc_symbol": "CYP4V2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:187112674-187134610", "ensembl_id": "ENSG00000145476" } }, "GRch38": { "90": { "location": "4:186191520-186213456", "ensembl_id": "ENSG00000145476" } } }, "hgnc_date_symbol_changed": "2004-07-05" }, "entity_type": "gene", "entity_name": "CYP4V2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15042513" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Bietti crystalline corneoretinal dystrophy, MIM# 210370" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 91, "hash_id": null, "name": "Corneal Dystrophy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe corneal dystrophies are a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea, causing opacification. The corneal dystrophies can be divided into three groups based on the sole or predominant anatomical location of the abnormalities: (a). the anterior corneal dystrophies affect primarily the corneal epithelium and its basement membrane or Bowman layer and the superficial corneal stroma, (b).the stromal corneal dystrophies affect the corneal stroma, (c). the posterior corneal dystrophies affect the Descemet membrane and the corneal endothelium. \r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Corneal Dystrophy' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 27/07/2020.", "status": "public", "version": "1.21", "version_created": "2026-02-22T15:53:37.257206+11:00", "relevant_disorders": [ "Abnormal corneal morphology", "HP:0000481" ], "stats": { "number_of_genes": 33, "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": [ "CLP", "MLP", "CMD1M" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2472", "gene_name": "cysteine and glycine rich protein 3", "omim_gene": [ "600824" ], "alias_name": [ "cardiac LIM protein" ], "gene_symbol": "CSRP3", "hgnc_symbol": "CSRP3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:19203578-19232120", "ensembl_id": "ENSG00000129170" } }, "GRch38": { "90": { "location": "11:19182030-19210573", "ensembl_id": "ENSG00000129170" } } }, "hgnc_date_symbol_changed": "1999-07-21" }, "entity_type": "gene", "entity_name": "CSRP3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18505755", "30681346" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cardiomyopathy, hypertrophic, 12, MIM#\t612124" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 111, "hash_id": null, "name": "Hypertrophic cardiomyopathy", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hypertrophic cardiomyopathy or isolated left ventricular hypertrophy (including sarcomere, sarcomere-associated and syndromic conditions), typically with onset in adolescence or adulthood. For early-onset hypertrophic cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel was developed by VCGS and is maintained by VCGS and RMH. It has been compared against the Genomics England 'Hypertrophic Cardiomyopathy - teen and adult' panel and incorporates gene-disease validity assessments by the ClinGen HCM working group (PMID: 30681346), 5/8/2020 and Hereditary Cardiovascular Disorders Gene Curation Expert Panel (PMID: 39132495).", "status": "public", "version": "1.26", "version_created": "2026-04-28T10:50:20.751827+10:00", "relevant_disorders": [ "Hypertrophic cardiomyopathy", "HP:0001639" ], "stats": { "number_of_genes": 64, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2582", "gene_name": "cylicin 1", "omim_gene": [ "300768" ], "alias_name": null, "gene_symbol": "CYLC1", "hgnc_symbol": "CYLC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:83116154-83141705", "ensembl_id": "ENSG00000183035" } }, "GRch38": { "90": { "location": "X:83861126-83886699", "ensembl_id": "ENSG00000183035" } } }, "hgnc_date_symbol_changed": "1998-03-20" }, "entity_type": "gene", "entity_name": "CYLC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spermatogenic failure, X-linked, 8, MIM#\t301119" ], "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": "1.4808", "version_created": "2026-04-28T11:59:15.160244+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6018, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RC3", "KIAA0856", "DFNA71" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2938", "gene_name": "Dmx like 2", "omim_gene": [ "612186" ], "alias_name": [ "rabconnectin 3" ], "gene_symbol": "DMXL2", "hgnc_symbol": "DMXL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:51739908-51915030", "ensembl_id": "ENSG00000104093" } }, "GRch38": { "90": { "location": "15:51447711-51622833", "ensembl_id": "ENSG00000104093" } } }, "hgnc_date_symbol_changed": "1998-04-27" }, "entity_type": "gene", "entity_name": "DMXL2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31688942", "30237576" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 81, MIM#\t618663" ], "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": "1.4808", "version_created": "2026-04-28T11:59:15.160244+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6018, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1190", "DKFZp434N0615" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26955", "gene_name": "zinc finger and BTB domain containing 47", "omim_gene": null, "alias_name": null, "gene_symbol": "ZBTB47", "hgnc_symbol": "ZBTB47", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:42695176-42709072", "ensembl_id": "ENSG00000114853" } }, "GRch38": { "90": { "location": "3:42653684-42665854", "ensembl_id": "ENSG00000114853" } } }, "hgnc_date_symbol_changed": "2006-09-19" }, "entity_type": "gene", "entity_name": "ZBTB47", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "37743782" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder (MONDO#0700092), ZBTB47-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": "1.4808", "version_created": "2026-04-28T11:59:15.160244+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6018, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ10546", "KIAA1585", "msl-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25544", "gene_name": "MSL complex subunit 2", "omim_gene": [ "614802" ], "alias_name": [ "male-specific lethal-2 homolog (Drosophila)" ], "gene_symbol": "MSL2", "hgnc_symbol": "MSL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:135867764-135916083", "ensembl_id": "ENSG00000174579" } }, "GRch38": { "90": { "location": "3:136148922-136197241", "ensembl_id": "ENSG00000174579" } } }, "hgnc_date_symbol_changed": "2008-10-29" }, "entity_type": "gene", "entity_name": "MSL2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31332282", "33057194", "38815585", "38702431" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Karayol-Borroto-Haghshenas neurodevelopmental syndrome, MIM# 620985" ], "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": "1.4808", "version_created": "2026-04-28T11:59:15.160244+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6018, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ20467", "FBB18", "CILD26", "Kur" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1301", "gene_name": "chromosome 21 open reading frame 59", "omim_gene": [ "615494" ], "alias_name": [ "kurly homolog (zebrafish)" ], "gene_symbol": "C21orf59", "hgnc_symbol": "C21orf59", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:33964389-33985176", "ensembl_id": "ENSG00000159079" } }, "GRch38": { "90": { "location": "21:32592079-32612866", "ensembl_id": "ENSG00000159079" } } }, "hgnc_date_symbol_changed": "2000-06-28" }, "entity_type": "gene", "entity_name": "C21orf59", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24094744" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ciliary dyskinesia, primary, 26, MIM# 615500" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder", "new gene name" ], "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": "1.4808", "version_created": "2026-04-28T11:59:15.160244+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6018, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SLIM1", "KYO-T", "bA535K18.1", "FHL1B", "XMPMA", "FLH1A", "MGC111107" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3702", "gene_name": "four and a half LIM domains 1", "omim_gene": [ "300163" ], "alias_name": [ "Four-and-a-half LIM domains 1", "LIM protein SLIMMER" ], "gene_symbol": "FHL1", "hgnc_symbol": "FHL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:135229559-135293518", "ensembl_id": "ENSG00000022267" } }, "GRch38": { "90": { "location": "X:136146702-136211359", "ensembl_id": "ENSG00000022267" } } }, "hgnc_date_symbol_changed": "1997-08-28" }, "entity_type": "gene", "entity_name": "FHL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19716112", "20186852", "20301609", "18179901", "25274776", "34366191", "18274675", "19181672" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Reducing body myopathy MONDO:0019948", "X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680" ], "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": 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": "1.4808", "version_created": "2026-04-28T11:59:15.160244+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6018, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4083", "gene_name": "gamma-aminobutyric acid type A receptor beta3 subunit", "omim_gene": [ "137192" ], "alias_name": [ "GABA(A) receptor, beta 3" ], "gene_symbol": "GABRB3", "hgnc_symbol": "GABRB3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:26788693-27184686", "ensembl_id": "ENSG00000166206" } }, "GRch38": { "90": { "location": "15:26543546-26939539", "ensembl_id": "ENSG00000166206" } } }, "hgnc_date_symbol_changed": "1991-06-05" }, "entity_type": "gene", "entity_name": "GABRB3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23934111", "27476654" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 43, MIM# 617113" ], "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": "1.4808", "version_created": "2026-04-28T11:59:15.160244+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6018, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RPD3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13315", "gene_name": "histone deacetylase 8", "omim_gene": [ "300269" ], "alias_name": null, "gene_symbol": "HDAC8", "hgnc_symbol": "HDAC8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:71549366-71792953", "ensembl_id": "ENSG00000147099" } }, "GRch38": { "90": { "location": "X:72329516-72573103", "ensembl_id": "ENSG00000147099" } } }, "hgnc_date_symbol_changed": "2002-09-06" }, "entity_type": "gene", "entity_name": "HDAC8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30614194", "24403048" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cornelia de Lange syndrome 5, MIM# 300882" ], "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": 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": "1.4808", "version_created": "2026-04-28T11:59:15.160244+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6018, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CI-13kA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7713", "gene_name": "NADH:ubiquinone oxidoreductase subunit S6", "omim_gene": [ "603848" ], "alias_name": [ "complex I 13kDa subunit A", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial" ], "gene_symbol": "NDUFS6", "hgnc_symbol": "NDUFS6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:1801514-1816719", "ensembl_id": "ENSG00000145494" } }, "GRch38": { "90": { "location": "5:1801400-1816605", "ensembl_id": "ENSG00000145494" } } }, "hgnc_date_symbol_changed": "1995-11-08" }, "entity_type": "gene", "entity_name": "NDUFS6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15372108", "19259137", "30948790" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232" ], "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": "1.4808", "version_created": "2026-04-28T11:59:15.160244+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6018, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "OPLA", "5-Opase" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8149", "gene_name": "5-oxoprolinase, ATP-hydrolysing", "omim_gene": [ "614243" ], "alias_name": null, "gene_symbol": "OPLAH", "hgnc_symbol": "OPLAH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:145106167-145118735", "ensembl_id": "ENSG00000178814" } }, "GRch38": { "90": { "location": "8:144051266-144063965", "ensembl_id": "ENSG00000178814" } } }, "hgnc_date_symbol_changed": "1999-12-10" }, "entity_type": "gene", "entity_name": "OPLAH", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27604308", "27477828" ], "evidence": [ "Expert Review Amber", "Expert Review Amber", "NHS GMS", "Victorian Clinical Genetics Services" ], "phenotypes": [ "5-oxoprolinase deficiency MIM#260005", "Disorders of the gamma-glutamyl cycle" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "disputed" ], "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": "1.4808", "version_created": "2026-04-28T11:59:15.160244+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6018, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9988", "gene_name": "regulatory factor X associated protein", "omim_gene": [ "601861" ], "alias_name": null, "gene_symbol": "RFXAP", "hgnc_symbol": "RFXAP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:37393361-37403241", "ensembl_id": "ENSG00000133111" } }, "GRch38": { "90": { "location": "13:36819224-36829104", "ensembl_id": "ENSG00000133111" } } }, "hgnc_date_symbol_changed": "1997-11-05" }, "entity_type": "gene", "entity_name": "RFXAP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9118943", "32875002", "11258423" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Bare lymphocyte syndrome, type II, complementation group D MIM# 209920", "Low CD4+ T cells", "reduced MHC II expression on lymphocytes", "Normal-low Ig levels", "Failure to thrive", "respiratory/gastrointestinal infections", "liver/biliary tract disease", "diarrhoea", "Severe autoimmune cytopaenia", "agammaglobulinaemia" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "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": "1.4808", "version_created": "2026-04-28T11:59:15.160244+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6018, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:10856", "gene_name": "sucrase-isomaltase", "omim_gene": [ "609845" ], "alias_name": [ "Oligosaccharide alpha-1,6-glucosidase", "alpha-glucosidase" ], "gene_symbol": "SI", "hgnc_symbol": "SI", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:164696686-164796283", "ensembl_id": "ENSG00000090402" } }, "GRch38": { "90": { "location": "3:164978898-165078495", "ensembl_id": "ENSG00000090402" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "SI", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "3149304", "31557950" ], "evidence": [ "Expert Review Green", "Expert Review", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Sucrase-isomaltase deficiency, congenital #222900" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4808", "version_created": "2026-04-28T11:59:15.160244+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6018, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "OAT4L", "RST", "URAT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17989", "gene_name": "solute carrier family 22 member 12", "omim_gene": [ "607096" ], "alias_name": null, "gene_symbol": "SLC22A12", "hgnc_symbol": "SLC22A12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:64358113-64369820", "ensembl_id": "ENSG00000197891" } }, "GRch38": { "90": { "location": "11:64590641-64602353", "ensembl_id": "ENSG00000197891" } } }, "hgnc_date_symbol_changed": "2002-07-31" }, "entity_type": "gene", "entity_name": "SLC22A12", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "14655203", "34412930", "34756726", "34829836", "26821810" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypouricemia, renal, MIM# 220150, MONDO:0020728" ], "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": "1.4808", "version_created": "2026-04-28T11:59:15.160244+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6018, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SNF2LB", "NURF140", "ISWI", "SWI", "hSNF2L" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11097", "gene_name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1", "omim_gene": [ "300012" ], "alias_name": null, "gene_symbol": "SMARCA1", "hgnc_symbol": "SMARCA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:128580480-128657477", "ensembl_id": "ENSG00000102038" } }, "GRch38": { "90": { "location": "X:129446501-129523500", "ensembl_id": "ENSG00000102038" } } }, "hgnc_date_symbol_changed": "1992-11-30" }, "entity_type": "gene", "entity_name": "SMARCA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26740508", "26539891", "29249292", "37841849", "41213919" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, SMARCA1-related" ], "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": "1.4808", "version_created": "2026-04-28T11:59:15.160244+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6018, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:18122", "gene_name": "SRY-box 17", "omim_gene": [ "610928" ], "alias_name": null, "gene_symbol": "SOX17", "hgnc_symbol": "SOX17", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:55370495-55373448", "ensembl_id": "ENSG00000164736" } }, "GRch38": { "90": { "location": "8:54457935-54460888", "ensembl_id": "ENSG00000164736" } } }, "hgnc_date_symbol_changed": "2002-02-15" }, "entity_type": "gene", "entity_name": "SOX17", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29650961", "31406341", "20960469" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Vesicoureteral reflux 3 MIM#613674", "Pulmonary hypertension, primary, 7, MIM# 621248" ], "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": "1.4808", "version_created": "2026-04-28T11:59:15.160244+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6018, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MCPH7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10879", "gene_name": "STIL, centriolar assembly protein", "omim_gene": [ "181590" ], "alias_name": null, "gene_symbol": "STIL", "hgnc_symbol": "STIL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:47715811-47779819", "ensembl_id": "ENSG00000123473" } }, "GRch38": { "90": { "location": "1:47250139-47314147", "ensembl_id": "ENSG00000123473" } } }, "hgnc_date_symbol_changed": "2005-11-29" }, "entity_type": "gene", "entity_name": "STIL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19215732", "22989186", "25218063", "33132204", "32677750", "29230157" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Microcephaly 7, primary, autosomal recessive, MIM# 612703", "MONDO:0012989" ], "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": "1.4808", "version_created": "2026-04-28T11:59:15.160244+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6018, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FSSV", "DA2B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11946", "gene_name": "troponin I2, fast skeletal type", "omim_gene": [ "191043" ], "alias_name": [ "troponin I, fast-twitch skeletal muscle isoform", "troponin I fast twitch 2" ], "gene_symbol": "TNNI2", "hgnc_symbol": "TNNI2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:1860219-1862910", "ensembl_id": "ENSG00000130598" } }, "GRch38": { "90": { "location": "11:1838989-1841680", "ensembl_id": "ENSG00000130598" } } }, "hgnc_date_symbol_changed": "1989-12-11" }, "entity_type": "gene", "entity_name": "TNNI2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "17194691", "25340332" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Arthrogryposis, distal, type 2B1 (MIM#601680)" ], "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": "1.4808", "version_created": "2026-04-28T11:59:15.160244+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6018, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ14848" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12712", "gene_name": "VPS33B, late endosome and lysosome associated", "omim_gene": [ "608552" ], "alias_name": null, "gene_symbol": "VPS33B", "hgnc_symbol": "VPS33B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:91541646-91565833", "ensembl_id": "ENSG00000184056" } }, "GRch38": { "90": { "location": "15:90998416-91022603", "ensembl_id": "ENSG00000184056" } } }, "hgnc_date_symbol_changed": "1999-11-19" }, "entity_type": "gene", "entity_name": "VPS33B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31240160", "31777725", "24415890", "15052268" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)" ], "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": "1.4808", "version_created": "2026-04-28T11:59:15.160244+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6018, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CFD1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8042", "gene_name": "nucleotide binding protein 2", "omim_gene": [ "610779" ], "alias_name": null, "gene_symbol": "NUBP2", "hgnc_symbol": "NUBP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:1832902-1839192", "ensembl_id": "ENSG00000095906" } }, "GRch38": { "90": { "location": "16:1782901-1789191", "ensembl_id": "ENSG00000095906" } } }, "hgnc_date_symbol_changed": "1999-05-25" }, "entity_type": "gene", "entity_name": "NUBP2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39867373" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092" ], "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": "1.4808", "version_created": "2026-04-28T11:59:15.160244+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6018, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "LBP-9", "CRTR1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17925", "gene_name": "transcription factor CP2 like 1", "omim_gene": [ "609785" ], "alias_name": null, "gene_symbol": "TFCP2L1", "hgnc_symbol": "TFCP2L1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:121974163-122042783", "ensembl_id": "ENSG00000115112" } }, "GRch38": { "90": { "location": "2:121216587-121285207", "ensembl_id": "ENSG00000115112" } } }, "hgnc_date_symbol_changed": "2004-01-05" }, "entity_type": "gene", "entity_name": "TFCP2L1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40569305", "33097957" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Inherited renal tubular disease, MONDO:0015962, TFGP2L1-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4808", "version_created": "2026-04-28T11:59:15.160244+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6018, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CMKAR2", "CD182" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6027", "gene_name": "C-X-C motif chemokine receptor 2", "omim_gene": [ "146928" ], "alias_name": null, "gene_symbol": "CXCR2", "hgnc_symbol": "CXCR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:218990012-219001976", "ensembl_id": "ENSG00000180871" } }, "GRch38": { "90": { "location": "2:218125289-218137253", "ensembl_id": "ENSG00000180871" } } }, "hgnc_date_symbol_changed": "2009-11-25" }, "entity_type": "gene", "entity_name": "CXCR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24777453" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "WHIM syndrome 2, 619407" ], "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": "1.4808", "version_created": "2026-04-28T11:59:15.160244+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6018, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "bHLHb32", "HERP1", "HESR2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4881", "gene_name": "hes related family bHLH transcription factor with YRPW motif 2", "omim_gene": [ "604674" ], "alias_name": null, "gene_symbol": "HEY2", "hgnc_symbol": "HEY2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:126068810-126082415", "ensembl_id": "ENSG00000135547" } }, "GRch38": { "90": { "location": "6:125747664-125761269", "ensembl_id": "ENSG00000135547" } } }, "hgnc_date_symbol_changed": "1999-10-12" }, "entity_type": "gene", "entity_name": "HEY2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32820247", "40481234" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Congenital heart disease, MONDO:0005453, HEY2-related", "thoracic aortic aneurysms" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4808", "version_created": "2026-04-28T11:59:15.160244+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6018, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ36601", "RP13-11B7.1", "MGC34831" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26708", "gene_name": "cilia and flagella associated protein 47", "omim_gene": null, "alias_name": null, "gene_symbol": "CFAP47", "hgnc_symbol": "CFAP47", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:35937851-36008269", "ensembl_id": "ENSG00000165164" } }, "GRch38": { "90": { "location": "X:35919734-36385319", "ensembl_id": "ENSG00000165164" } } }, "hgnc_date_symbol_changed": "2015-02-03" }, "entity_type": "gene", "entity_name": "CFAP47", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33472045", "39698362" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spermatogenic failure, X-linked, 3, MIM# 301059", "Cystic kidney disease MONDO:0002473" ], "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": 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": "1.4808", "version_created": "2026-04-28T11:59:15.160244+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6018, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:14543", "gene_name": "WNK lysine deficient protein kinase 3", "omim_gene": [ "300358" ], "alias_name": null, "gene_symbol": "WNK3", "hgnc_symbol": "WNK3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:54219256-54385075", "ensembl_id": "ENSG00000196632" } }, "GRch38": { "90": { "location": "X:54192823-54358642", "ensembl_id": "ENSG00000196632" } } }, "hgnc_date_symbol_changed": "2005-01-22" }, "entity_type": "gene", "entity_name": "WNK3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35678782" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Prieto syndrome, MIM# 309610" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "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 primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.428", "version_created": "2026-04-26T12:52:13.066925+10:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1518" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29300", "gene_name": "KN motif and ankyrin repeat domains 2", "omim_gene": [ "614610" ], "alias_name": null, "gene_symbol": "KANK2", "hgnc_symbol": "KANK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:11274943-11308467", "ensembl_id": "ENSG00000197256" } }, "GRch38": { "90": { "location": "19:11164267-11197791", "ensembl_id": "ENSG00000197256" } } }, "hgnc_date_symbol_changed": "2008-01-29" }, "entity_type": "gene", "entity_name": "KANK2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25961457" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Nephrotic syndrome, type 16, MIM#617783" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 144, "hash_id": null, "name": "Proteinuria", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "To be used in individuals with suspected nephrotic syndrome and related conditions, part of the Renal Glomerular Disease Superpanel.\r\n\r\n09/01/2020: This panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.", "status": "public", "version": "0.239", "version_created": "2026-03-12T18:51:41.043263+11:00", "relevant_disorders": [ "Proteinuria HP:0000093" ], "stats": { "number_of_genes": 88, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ND5", "NAD5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7461", "gene_name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5", "omim_gene": [ "516005" ], "alias_name": [ "complex I ND5 subunit", "NADH-ubiquinone oxidoreductase chain 5" ], "gene_symbol": "MT-ND5", "hgnc_symbol": "MT-ND5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:12337-14148", "ensembl_id": "ENSG00000198786" } }, "GRch38": { "90": { "location": "MT:12337-14148", "ensembl_id": "ENSG00000198786" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-ND5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "17400793", "11938446", "12624137", "18495510", "23918514", "17535832", "29506874", "23034978", "16816025", "9299505", "18977334" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-ND5-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "panel": { "id": 149, "hash_id": null, "name": "Optic Atrophy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and RMH and contains genes associated with isolated and complex optic atrophy.", "status": "public", "version": "1.72", "version_created": "2026-03-31T18:57:17.873049+11:00", "relevant_disorders": [ "Optic atrophy", "HP:0000648" ], "stats": { "number_of_genes": 80, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:37247", "gene_name": "BLOC-1 related complex subunit 8", "omim_gene": [ "616601" ], "alias_name": null, "gene_symbol": "BORCS8", "hgnc_symbol": "BORCS8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:19287712-19303400", "ensembl_id": "ENSG00000254901" } }, "GRch38": { "90": { "location": "19:19176903-19192591", "ensembl_id": "ENSG00000254901" } } }, "hgnc_date_symbol_changed": "2015-08-07" }, "entity_type": "gene", "entity_name": "BORCS8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38128568" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 149, "hash_id": null, "name": "Optic Atrophy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and RMH and contains genes associated with isolated and complex optic atrophy.", "status": "public", "version": "1.72", "version_created": "2026-03-31T18:57:17.873049+11:00", "relevant_disorders": [ "Optic atrophy", "HP:0000648" ], "stats": { "number_of_genes": 80, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NPHP7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29450", "gene_name": "GLIS family zinc finger 2", "omim_gene": [ "608539" ], "alias_name": [ "nephrocystin-7" ], "gene_symbol": "GLIS2", "hgnc_symbol": "GLIS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:4364762-4389598", "ensembl_id": "ENSG00000126603" } }, "GRch38": { "90": { "location": "16:4314761-4339597", "ensembl_id": "ENSG00000126603" } } }, "hgnc_date_symbol_changed": "2004-07-16" }, "entity_type": "gene", "entity_name": "GLIS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17618285", "23559409", "31676329" ], "evidence": [ "Expert Review Green", "KidGen_CilioNephronop v38.1.0" ], "phenotypes": [ "Nephronophthisis 7, OMIM#611498", "MONDO:0012680" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 193, "hash_id": null, "name": "Renal Ciliopathies and Nephronophthisis", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen", "status": "public", "version": "1.53", "version_created": "2026-03-19T17:14:29.802874+11:00", "relevant_disorders": [ "Abnormality of renal medullary morphology", "HP:0025361; Renal cyst", "HP:0000107" ], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1037", "ADP", "DCAF9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29175", "gene_name": "WD and tetratricopeptide repeats 1", "omim_gene": null, "alias_name": [ "adipose homolog (Drosophila)", "DDB1 and CUL4 associated factor 9" ], "gene_symbol": "WDTC1", "hgnc_symbol": "WDTC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:27561007-27635110", "ensembl_id": "ENSG00000142784" } }, "GRch38": { "90": { "location": "1:27234516-27308633", "ensembl_id": "ENSG00000142784" } } }, "hgnc_date_symbol_changed": "2003-12-22" }, "entity_type": "gene", "entity_name": "WDTC1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41793087" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder MONDO:0700092, WDTC1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.413", "version_created": "2026-04-28T11:53:52.998599+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1156, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC: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": "", "publications": [], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance" ], "phenotypes": [ "Colorectal cancer, hereditary nonpolyposis, type 5, MIM# 614350" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 221, "hash_id": null, "name": "Additional findings_Adult", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.", "status": "public", "version": "2.0", "version_created": "2026-03-16T10:56:03.168206+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 136, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ10335", "FAAP43", "Pog" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20748", "gene_name": "Fanconi anemia complementation group L", "omim_gene": [ "608111" ], "alias_name": null, "gene_symbol": "FANCL", "hgnc_symbol": "FANCL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:58386378-58468507", "ensembl_id": "ENSG00000115392" } }, "GRch38": { "90": { "location": "2:58159243-58241372", "ensembl_id": "ENSG00000115392" } } }, "hgnc_date_symbol_changed": "2003-10-15" }, "entity_type": "gene", "entity_name": "FANCL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Fanconi anaemia, complementation group L, MIM# 614083" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 221, "hash_id": null, "name": "Additional findings_Adult", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.", "status": "public", "version": "2.0", "version_created": "2026-03-16T10:56:03.168206+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 136, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CD283" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11849", "gene_name": "toll like receptor 3", "omim_gene": [ "603029" ], "alias_name": null, "gene_symbol": "TLR3", "hgnc_symbol": "TLR3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:186990306-187009223", "ensembl_id": "ENSG00000164342" } }, "GRch38": { "90": { "location": "4:186069152-186088069", "ensembl_id": "ENSG00000164342" } } }, "hgnc_date_symbol_changed": "1998-06-25" }, "entity_type": "gene", "entity_name": "TLR3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 231, "hash_id": null, "name": "Defects of intrinsic and innate immunity", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause defects in intrinsic and innate immunity, including the following:\r\n- Mendelian susceptibility to mycobacterial disease (MSMD)\r\n- Epidermodysplasia verruciformis (HPV)\r\n- Predisposition to severe viral infection\r\n- Herpes simplex encephalitis (HSE)\r\n- Predisposition to mucocutaneous candidiasis\r\n- Other inborn errors of immunity related to non-haematopoietic tissues\r\n- Other inborn errors of immunity related to leukocytes\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).", "status": "public", "version": "1.39", "version_created": "2026-04-15T16:26:05.053680+10:00", "relevant_disorders": [ "Unusual infections", "HP:0032101" ], "stats": { "number_of_genes": 86, "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": [ "CED", "TGFbeta" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11766", "gene_name": "transforming growth factor beta 1", "omim_gene": [ "190180" ], "alias_name": [ "Camurati-Engelmann disease", "prepro-transforming growth factor beta-1" ], "gene_symbol": "TGFB1", "hgnc_symbol": "TGFB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:41807492-41859816", "ensembl_id": "ENSG00000105329" } }, "GRch38": { "90": { "location": "19:41301587-41353911", "ensembl_id": "ENSG00000105329" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "TGFB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert list", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [ "umccr" ], "panel": { "id": 243, "hash_id": null, "name": "Immune_markers_WTS_UMCCR", "disease_group": "Cancer", "disease_sub_group": "", "description": "Author: Jacek Marzec, jacek.marzec@unimelb.edu.au\r\n\r\nPurpose: panel of immune markers used to assess pre-existing anti-cancer immunity and likelihood of response to immunotherapy. This set of genes is used in UMCCR WTS report \"Immune markers\" section\r\n\r\nSource: https://www.omniseq.com\r\n\r\nGithub: https://github.com/umccr/RNAsum", "status": "public", "version": "0.77", "version_created": "2025-11-03T15:30:48.145923+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 71, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HNPCC", "FCC2", "HNPCC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7127", "gene_name": "mutL homolog 1", "omim_gene": [ "120436" ], "alias_name": null, "gene_symbol": "MLH1", "hgnc_symbol": "MLH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:37034823-37107380", "ensembl_id": "ENSG00000076242" } }, "GRch38": { "90": { "location": "3:36993332-37050918", "ensembl_id": "ENSG00000076242" } } }, "hgnc_date_symbol_changed": "1993-11-24" }, "entity_type": "gene", "entity_name": "MLH1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Mismatch repair cancer syndrome, OMIM #276300", "Muir-Torre syndrome, OMIM #158320" ], "mode_of_inheritance": "BOTH monoallelic and 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": "1.762", "version_created": "2026-04-28T11:36:05.095608+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0561" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19036", "gene_name": "microtubule associated serine/threonine kinase 3", "omim_gene": [ "612258" ], "alias_name": null, "gene_symbol": "MAST3", "hgnc_symbol": "MAST3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:18208603-18262502", "ensembl_id": "ENSG00000099308" } }, "GRch38": { "90": { "location": "19:18097793-18151692", "ensembl_id": "ENSG00000099308" } } }, "hgnc_date_symbol_changed": "2004-02-10" }, "entity_type": "gene", "entity_name": "MAST3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34185323", "35095415" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy 108, MIM#620115" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 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": "1.762", "version_created": "2026-04-28T11:36:05.095608+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:869", "gene_name": "ATPase copper transporting alpha", "omim_gene": [ "300011" ], "alias_name": [ "copper pump 1", "copper-transporting ATPase 1" ], "gene_symbol": "ATP7A", "hgnc_symbol": "ATP7A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:77166194-77305892", "ensembl_id": "ENSG00000165240" } }, "GRch38": { "90": { "location": "X:77910656-78050395", "ensembl_id": "ENSG00000165240" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ATP7A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "NHS GMS", "Expert Review Green", "UKGTN", "Expert Review Green", "Radboud University Medical Center, Nijmegen", "NHS GMS", "Expert list", "Emory Genetics Laboratory", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spinal muscular atrophy, distal, 300489", "Menkes disease 309400", "Occipital horn syndrome 304150" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": "0.434", "version_created": "2026-04-28T10:59:04.105653+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 634, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC15631", "ARMD6", "CORD11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18286", "gene_name": "retina and anterior neural fold homeobox 2", "omim_gene": [ "610362" ], "alias_name": null, "gene_symbol": "RAX2", "hgnc_symbol": "RAX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:3769087-3772233", "ensembl_id": "ENSG00000173976" } }, "GRch38": { "90": { "location": "19:3769089-3772221", "ensembl_id": "ENSG00000173976" } } }, "hgnc_date_symbol_changed": "2007-08-28" }, "entity_type": "gene", "entity_name": "RAX2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30607024" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Retinitis pigmentosa-95 (RP95), MIM#620102" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 277, "hash_id": null, "name": "Retinitis pigmentosa", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.", "status": "public", "version": "0.246", "version_created": "2026-04-24T16:58:06.901564+10:00", "relevant_disorders": [ "Abnormal retinal morphology", "HP:0000479" ], "stats": { "number_of_genes": 159, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4396", "gene_name": "G protein subunit beta 1", "omim_gene": [ "139380" ], "alias_name": [ "transducin beta chain 1", "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1" ], "gene_symbol": "GNB1", "hgnc_symbol": "GNB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:1716729-1822495", "ensembl_id": "ENSG00000078369" } }, "GRch38": { "90": { "location": "1:1785285-1891117", "ensembl_id": "ENSG00000078369" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "GNB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30194818", "27108799", "27668284", "31034681" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Mental retardation, autosomal dominant 42, MIM# 616973", "Myoclonus dystonia" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 290, "hash_id": null, "name": "Dystonia and Chorea", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.", "status": "public", "version": "0.344", "version_created": "2026-04-06T11:07:45.734922+10:00", "relevant_disorders": [ "Dystonia", "HP:0001332; Chorea", "HP:0002072" ], "stats": { "number_of_genes": 198, "number_of_strs": 9, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7765", "gene_name": "neurofibromin 1", "omim_gene": [ "613113" ], "alias_name": [ "neurofibromatosis", "von Recklinghausen disease", "Watson disease" ], "gene_symbol": "NF1", "hgnc_symbol": "NF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:29421945-29709134", "ensembl_id": "ENSG00000196712" } }, "GRch38": { "90": { "location": "17:31094927-31382116", "ensembl_id": "ENSG00000196712" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "NF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19845691", "16380919", "12707950" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Neurofibromatosis, type 1 162200", "Neurofibromatosis-Noonan syndrome 601321" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3098, "hash_id": null, "name": "Lymphoedema", "disease_group": "Cardiovascular disorders", "disease_sub_group": "Lymphatic Disorders", "description": "The panel contains genes associated with nonsyndromic and syndromic lymphoedema.", "status": "public", "version": "0.32", "version_created": "2026-02-06T22:04:55.315713+11:00", "relevant_disorders": [ "Lymphedema", "HP:0001004" ], "stats": { "number_of_genes": 59, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Nav1.7", "PN1", "NE-NA", "NENA", "ETHA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10597", "gene_name": "sodium voltage-gated channel alpha subunit 9", "omim_gene": [ "603415" ], "alias_name": null, "gene_symbol": "SCN9A", "hgnc_symbol": "SCN9A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:167051695-167232503", "ensembl_id": "ENSG00000169432" } }, "GRch38": { "90": { "location": "2:166195185-166375993", "ensembl_id": "ENSG00000169432" } } }, "hgnc_date_symbol_changed": "1996-04-12" }, "entity_type": "gene", "entity_name": "SCN9A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16392115", "17167479", "17470132", "17145499", "17679678", "25316021", "15958509", "28665811", "23596073", "24817410", "28235406", "16216943", "24813307", "14985375", "1536168" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "HSAN2D, autosomal recessive, AR, 243000", "Erythermalgia, primary, AD, 133020", "Small fiber neuropathy, AD,133020", "Insensitivity to pain, congenital, AR, 243000", "Paroxysmal extreme pain disorder, AD, 167400" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3126, "hash_id": null, "name": "Pain syndromes", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Mendelian disorders of pain perception, including insensitivity to pain or increased pain perception, with thanks to Genomics England PanelApp.", "status": "public", "version": "0.38", "version_created": "2026-02-22T15:47:27.675595+11:00", "relevant_disorders": [ "Pain", "HP:0012531" ], "stats": { "number_of_genes": 31, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ21439" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11226", "gene_name": "SPG11, spatacsin vesicle trafficking associated", "omim_gene": [ "610844" ], "alias_name": [ "spatacsin" ], "gene_symbol": "SPG11", "hgnc_symbol": "SPG11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:44854894-44955876", "ensembl_id": "ENSG00000104133" } }, "GRch38": { "90": { "location": "15:44562696-44663678", "ensembl_id": "ENSG00000104133" } } }, "hgnc_date_symbol_changed": "1999-10-08" }, "entity_type": "gene", "entity_name": "SPG11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Spastic paraplegia 11, autosomal recessive, 604360 (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": [ "Pwdmp", "KIAA1638", "FLJ23127", "ORF26", "DYF-2", "Oseg6", "IFT144", "NPHP13" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18340", "gene_name": "WD repeat domain 19", "omim_gene": [ "608151" ], "alias_name": [ "intraflagellar transport 144 homolog (Chlamydomonas)" ], "gene_symbol": "WDR19", "hgnc_symbol": "WDR19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:39184024-39287430", "ensembl_id": "ENSG00000157796" } }, "GRch38": { "90": { "location": "4:39182404-39285810", "ensembl_id": "ENSG00000157796" } } }, "hgnc_date_symbol_changed": "2002-04-26" }, "entity_type": "gene", "entity_name": "WDR19", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Senior-Loken syndrome 8, 616307 (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": [ "AIBP", "MGC119143", "MGC119144", "MGC119145", "YJEFN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18453", "gene_name": "NAD(P)HX epimerase", "omim_gene": [ "608862" ], "alias_name": [ "apoA-I binding protein", "NAD(P)H-hydrate epimerase" ], "gene_symbol": "NAXE", "hgnc_symbol": "NAXE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:156561554-156564091", "ensembl_id": "ENSG00000163382" } }, "GRch38": { "90": { "location": "1:156591762-156594299", "ensembl_id": "ENSG00000163382" } } }, "hgnc_date_symbol_changed": "2016-03-09" }, "entity_type": "gene", "entity_name": "NAXE", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 (3), Autosomal recessive" ], "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": [ "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": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Renal tubular acidosis, distal, autosomal recessive, 602722 (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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:15527", "gene_name": "klotho beta", "omim_gene": [ "611135" ], "alias_name": [ "b-Klotho" ], "gene_symbol": "KLB", "hgnc_symbol": "KLB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:39408473-39453156", "ensembl_id": "ENSG00000134962" } }, "GRch38": { "90": { "location": "4:39406853-39451536", "ensembl_id": "ENSG00000134962" } } }, "hgnc_date_symbol_changed": "2005-10-10" }, "entity_type": "gene", "entity_name": "KLB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28754744" ], "evidence": [ "Expert Review Green", "Literature", "Literature", "Literature" ], "phenotypes": [ "Hypogonadotropic hypogonadism MONDO:0018555, KLB-related" ], "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": "0.226", "version_created": "2026-04-23T15:35:12.037215+10:00", "relevant_disorders": [ "Hypopituitarism", "HP:0040075" ], "stats": { "number_of_genes": 128, "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": [ "nM15" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6814", "gene_name": "MAGE family member L2", "omim_gene": [ "605283" ], "alias_name": null, "gene_symbol": "MAGEL2", "hgnc_symbol": "MAGEL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:23888691-23891175", "ensembl_id": "ENSG00000254585" } }, "GRch38": { "90": { "location": "15:23643544-23647841", "ensembl_id": "ENSG00000254585" } } }, "hgnc_date_symbol_changed": "1999-10-29" }, "entity_type": "gene", "entity_name": "MAGEL2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33820833", "24076603", "31397880", "29599419", "30302899" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Schaaf-Yang syndrome, MIM# 615547" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)", "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": "0.226", "version_created": "2026-04-23T15:35:12.037215+10:00", "relevant_disorders": [ "Hypopituitarism", "HP:0040075" ], "stats": { "number_of_genes": 128, "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": null }, { "gene_data": { "alias": [ "FLJ43269" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26970", "gene_name": "COX20, cytochrome c oxidase assembly factor", "omim_gene": [ "614698" ], "alias_name": null, "gene_symbol": "COX20", "hgnc_symbol": "COX20", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:244998624-245008359", "ensembl_id": "ENSG00000203667" } }, "GRch38": { "90": { "location": "1:244835322-244845057", "ensembl_id": "ENSG00000203667" } } }, "hgnc_date_symbol_changed": "2012-02-24" }, "entity_type": "gene", "entity_name": "COX20", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "MetBioNet", "NHS GMS" ], "phenotypes": [ "Mitochondrial complex IV deficiency, 220110" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3270, "hash_id": null, "name": "Cardiomyopathy_Paediatric", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.", "status": "public", "version": "0.231", "version_created": "2026-04-28T11:37:58.412234+10:00", "relevant_disorders": [ "Cardiomyopathy", "HP:0001638;Abnormality of the myocardium", "HP:0001637" ], "stats": { "number_of_genes": 252, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HRIHFB2122", "KIAA1662", "Tara", "TAP68" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17009", "gene_name": "TRIO and F-actin binding protein", "omim_gene": [ "609761" ], "alias_name": null, "gene_symbol": "TRIOBP", "hgnc_symbol": "TRIOBP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:38093011-38172563", "ensembl_id": "ENSG00000100106" } }, "GRch38": { "90": { "location": "22:37697004-37776556", "ensembl_id": "ENSG00000100106" } } }, "hgnc_date_symbol_changed": "2005-10-04" }, "entity_type": "gene", "entity_name": "TRIOBP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Deafness, autosomal recessive" ], "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": [ "LH2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9082", "gene_name": "procollagen-lysine,2-oxoglutarate 5-dioxygenase 2", "omim_gene": [ "601865" ], "alias_name": [ "lysyl hydroxlase 2", "procollagen-lysine 5-dioxygenase" ], "gene_symbol": "PLOD2", "hgnc_symbol": "PLOD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:145787227-145881440", "ensembl_id": "ENSG00000152952" } }, "GRch38": { "90": { "location": "3:146069440-146163653", "ensembl_id": "ENSG00000152952" } } }, "hgnc_date_symbol_changed": "1996-12-18" }, "entity_type": "gene", "entity_name": "PLOD2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Bruck syndrome" ], "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": [ "merlin", "ACN", "SCH", "BANF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7773", "gene_name": "neurofibromin 2", "omim_gene": [ "607379" ], "alias_name": [ "moesin-ezrin-radixin like", "schwannomin" ], "gene_symbol": "NF2", "hgnc_symbol": "NF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:29999545-30094587", "ensembl_id": "ENSG00000186575" } }, "GRch38": { "90": { "location": "22:29603556-29698598", "ensembl_id": "ENSG00000186575" } } }, "hgnc_date_symbol_changed": "1992-01-01" }, "entity_type": "gene", "entity_name": "NF2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Neurofibromatosis 2" ], "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": [ "NPHS5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6487", "gene_name": "laminin subunit beta 2", "omim_gene": [ "150325" ], "alias_name": [ "laminin S" ], "gene_symbol": "LAMB2", "hgnc_symbol": "LAMB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:49158547-49170551", "ensembl_id": "ENSG00000172037" } }, "GRch38": { "90": { "location": "3:49121114-49133118", "ensembl_id": "ENSG00000172037" } } }, "hgnc_date_symbol_changed": "1992-05-06" }, "entity_type": "gene", "entity_name": "LAMB2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Pierson syndrome" ], "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": [ "Dnahc11", "DPL11", "CILD7", "DNAHC11", "DNAHBL", "DNHBL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2942", "gene_name": "dynein axonemal heavy chain 11", "omim_gene": [ "603339" ], "alias_name": [ "dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like" ], "gene_symbol": "DNAH11", "hgnc_symbol": "DNAH11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:21582833-21941457", "ensembl_id": "ENSG00000105877" } }, "GRch38": { "90": { "location": "7:21543215-21901839", "ensembl_id": "ENSG00000105877" } } }, "hgnc_date_symbol_changed": "1999-02-15" }, "entity_type": "gene", "entity_name": "DNAH11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Primary ciliary dyskinesia" ], "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": [ "ICERE-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2810", "gene_name": "gasdermin E", "omim_gene": [ "608798" ], "alias_name": [ "inversely correlated with estrogen receptor expression" ], "gene_symbol": "DFNA5", "hgnc_symbol": "GSDME", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:24737972-24809244", "ensembl_id": "ENSG00000105928" } }, "GRch38": { "90": { "location": "7:24698353-24758113", "ensembl_id": "ENSG00000105928" } } }, "hgnc_date_symbol_changed": "2017-08-18" }, "entity_type": "gene", "entity_name": "DFNA5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Hearing loss" ], "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": [ "ARC92", "ACID1", "TCBAP0758", "DKFZp434K0512" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28845", "gene_name": "mediator complex subunit 25", "omim_gene": [ "610197" ], "alias_name": null, "gene_symbol": "MED25", "hgnc_symbol": "MED25", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:50321539-50342073", "ensembl_id": "ENSG00000104973" } }, "GRch38": { "90": { "location": "19:49818279-49838816", "ensembl_id": "ENSG00000104973" } } }, "hgnc_date_symbol_changed": "2004-11-09" }, "entity_type": "gene", "entity_name": "MED25", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25792360" ], "evidence": [ "Expert Review Amber" ], "phenotypes": [ "BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME", "BVSYS" ], "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": "0.318", "version_created": "2026-04-27T11:53:17.890231+10:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9330", "gene_name": "polyglutamine binding protein 1", "omim_gene": [ "300463" ], "alias_name": null, "gene_symbol": "PQBP1", "hgnc_symbol": "PQBP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:48755195-48760420", "ensembl_id": "ENSG00000102103" } }, "GRch38": { "90": { "location": "X:48897912-48903143", "ensembl_id": "ENSG00000102103" } } }, "hgnc_date_symbol_changed": "1999-01-12" }, "entity_type": "gene", "entity_name": "PQBP1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "7943045" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Renpenning syndrome, 309500" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": "0.318", "version_created": "2026-04-27T11:53:17.890231+10:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "dGK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2858", "gene_name": "deoxyguanosine kinase", "omim_gene": [ "601465" ], "alias_name": null, "gene_symbol": "DGUOK", "hgnc_symbol": "DGUOK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:74153953-74186088", "ensembl_id": "ENSG00000114956" } }, "GRch38": { "90": { "location": "2:73926826-73958961", "ensembl_id": "ENSG00000114956" } } }, "hgnc_date_symbol_changed": "1996-07-17" }, "entity_type": "gene", "entity_name": "DGUOK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 11687800", "12205643", "15887277" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM 251880", "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM 617070", "portal hypertension, non cirrhotic OMIM 617068" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3379, "hash_id": null, "name": "Congenital ophthalmoplegia", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with congenital ophthalmoplegia including those associated with congenital fibrosis of the extra-ocular muscles (CFEOM), Duane anomaly, Moebius syndrome, and gaze palsies.\r\n\r\nIn addition, it includes genes associated with conditions where ophthalmoplegia can occur in infancy/early childhood as a common/prominent feature of a more complex syndromic, metabolic or neuromuscular condition.", "status": "public", "version": "1.14", "version_created": "2025-12-14T20:52:23.588623+11:00", "relevant_disorders": [ "Abnormality of eye movement", "HP:0000496" ], "stats": { "number_of_genes": 55, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Gsh4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21734", "gene_name": "LIM homeobox 4", "omim_gene": [ "602146" ], "alias_name": null, "gene_symbol": "LHX4", "hgnc_symbol": "LHX4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:180199421-180249380", "ensembl_id": "ENSG00000121454" } }, "GRch38": { "90": { "location": "1:180230286-180278982", "ensembl_id": "ENSG00000121454" } } }, "hgnc_date_symbol_changed": "2003-07-21" }, "entity_type": "gene", "entity_name": "LHX4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11567216", "17527005", "18073311" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Pituitary hormone deficiency, combined, 4, MIM# 262700" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "treatable" ], "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": "1.104", "version_created": "2026-04-26T12:53:45.051003+10:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "hRad50", "RAD50-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9816", "gene_name": "RAD50 double strand break repair protein", "omim_gene": [ "604040" ], "alias_name": null, "gene_symbol": "RAD50", "hgnc_symbol": "RAD50", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:131891711-131980313", "ensembl_id": "ENSG00000113522" } }, "GRch38": { "90": { "location": "5:132556019-132646344", "ensembl_id": "ENSG00000113522" } } }, "hgnc_date_symbol_changed": "1999-07-23" }, "entity_type": "gene", "entity_name": "RAD50", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "19409520", "32212377", "33378670" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Nijmegen breakage syndrome-like disorder, MIM# 613078", "MONDO:0013118" ], "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": "1.104", "version_created": "2026-04-26T12:53:45.051003+10:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FBLN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3600", "gene_name": "fibulin 1", "omim_gene": [ "135820" ], "alias_name": null, "gene_symbol": "FBLN1", "hgnc_symbol": "FBLN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:45898118-45997015", "ensembl_id": "ENSG00000077942" } }, "GRch38": { "90": { "location": "22:45502238-45601135", "ensembl_id": "ENSG00000077942" } } }, "hgnc_date_symbol_changed": "1994-02-08" }, "entity_type": "gene", "entity_name": "FBLN1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24084572" ], "evidence": [ "Expert Review Red", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3729, "hash_id": null, "name": "Hand and foot malformations", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.", "status": "public", "version": "0.89", "version_created": "2026-04-07T13:49:34.993963+10:00", "relevant_disorders": [ "Abnormal hand morphology", "HP:0005922; Abnormal foot morphology", "HP:0001760" ], "stats": { "number_of_genes": 101, "number_of_strs": 1, "number_of_regions": 5 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "hSNF2b", "BRG1", "BAF190", "SNF2", "SWI2", "SNF2-BETA", "SNF2LB", "FLJ39786" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11100", "gene_name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4", "omim_gene": [ "603254" ], "alias_name": [ "SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4" ], "gene_symbol": "SMARCA4", "hgnc_symbol": "SMARCA4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:11071598-11176071", "ensembl_id": "ENSG00000127616" } }, "GRch38": { "90": { "location": "19:10961001-11065395", "ensembl_id": "ENSG00000127616" } } }, "hgnc_date_symbol_changed": "1995-07-17" }, "entity_type": "gene", "entity_name": "SMARCA4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33461977" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Literature" ], "phenotypes": [ "Coffin-Siris syndrome 4, MIM# 614609" ], "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": "1.570", "version_created": "2026-04-28T11:47:47.215845+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2209, "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": [ "CHETK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1938", "gene_name": "choline kinase beta", "omim_gene": [ "612395" ], "alias_name": null, "gene_symbol": "CHKB", "hgnc_symbol": "CHKB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:51017378-51039884", "ensembl_id": "ENSG00000100288" } }, "GRch38": { "90": { "location": "22:50578949-50601455", "ensembl_id": "ENSG00000100288" } } }, "hgnc_date_symbol_changed": "2004-04-19" }, "entity_type": "gene", "entity_name": "CHKB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21665002", "23692895", "24997086" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Muscular dystrophy, congenital, megaconial type, MIM# 602541" ], "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": "1.570", "version_created": "2026-04-28T11:47:47.215845+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2209, "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:3791", "gene_name": "folate receptor 1", "omim_gene": [ "136430" ], "alias_name": [ "folate receptor alpha" ], "gene_symbol": "FOLR1", "hgnc_symbol": "FOLR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:71900602-71907345", "ensembl_id": "ENSG00000110195" } }, "GRch38": { "90": { "location": "11:72189558-72196323", "ensembl_id": "ENSG00000110195" } } }, "hgnc_date_symbol_changed": "1991-08-08" }, "entity_type": "gene", "entity_name": "FOLR1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19732866", "30420205", "27743887" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068" ], "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": "1.570", "version_created": "2026-04-28T11:47:47.215845+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2209, "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": [ "S7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10440", "gene_name": "ribosomal protein S7", "omim_gene": [ "603658" ], "alias_name": null, "gene_symbol": "RPS7", "hgnc_symbol": "RPS7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:3622795-3628509", "ensembl_id": "ENSG00000171863" } }, "GRch38": { "90": { "location": "2:3575205-3580919", "ensembl_id": "ENSG00000171863" } } }, "hgnc_date_symbol_changed": "1997-07-07" }, "entity_type": "gene", "entity_name": "RPS7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19061985", "23718193", "27882484", "32772263" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Diamond-Blackfan anemia 8, MONDO:0012939", "Diamond-Blackfan anemia 8, OMIM:612563" ], "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": "1.570", "version_created": "2026-04-28T11:47:47.215845+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2209, "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": [ "FLJ23403", "FLJ23144", "HsT748", "HsT771", "FLJ34907" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26270", "gene_name": "piezo type mechanosensitive ion channel component 2", "omim_gene": [ "613629" ], "alias_name": null, "gene_symbol": "PIEZO2", "hgnc_symbol": "PIEZO2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:10666480-11148587", "ensembl_id": "ENSG00000154864" } }, "GRch38": { "90": { "location": "18:10666483-11148762", "ensembl_id": "ENSG00000154864" } } }, "hgnc_date_symbol_changed": "2011-08-31" }, "entity_type": "gene", "entity_name": "PIEZO2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24726473", "30941898" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Marden-Walker syndrome, MIM# 248700", "Arthrogryposis, distal, type 3, MIM# 114300" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.570", "version_created": "2026-04-28T11:47:47.215845+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2209, "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": [ "CGTHBA", "RMD11", "NPR3", "MARE", "HS-40" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14124", "gene_name": "NPR3 like, GATOR1 complex subunit", "omim_gene": [ "600928" ], "alias_name": [ "conserved gene telomeric to alpha globin cluster" ], "gene_symbol": "NPRL3", "hgnc_symbol": "NPRL3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:134273-188859", "ensembl_id": "ENSG00000103148" } }, "GRch38": { "90": { "location": "16:84271-138860", "ensembl_id": "ENSG00000103148" } } }, "hgnc_date_symbol_changed": "2010-03-30" }, "entity_type": "gene", "entity_name": "NPRL3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27173016", "26285051", "33461085" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Epilepsy, familial focal, with variable foci 3- MIM#617118" ], "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": "1.570", "version_created": "2026-04-28T11:47:47.215845+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2209, "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": [ "CASP", "LEPREL3", "P3H5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2379", "gene_name": "cartilage associated protein", "omim_gene": [ "605497" ], "alias_name": [ "leprecan-like 3", "prolyl 3-hydroxylase family member 5 (non-enzymatic)" ], "gene_symbol": "CRTAP", "hgnc_symbol": "CRTAP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:33155471-33189265", "ensembl_id": "ENSG00000170275" } }, "GRch38": { "90": { "location": "3:33113979-33147773", "ensembl_id": "ENSG00000170275" } } }, "hgnc_date_symbol_changed": "1999-10-19" }, "entity_type": "gene", "entity_name": "CRTAP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21955071", "19846465", "17192541" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Osteogenesis imperfecta, type VII, 610682 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HS1BP1", "HCLSBP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16915", "gene_name": "HCLS1 associated protein X-1", "omim_gene": [ "605998" ], "alias_name": [ "HCLS1 (and PKD2) associated protein" ], "gene_symbol": "HAX1", "hgnc_symbol": "HAX1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:154244987-154248351", "ensembl_id": "ENSG00000143575" } }, "GRch38": { "90": { "location": "1:154272511-154275875", "ensembl_id": "ENSG00000143575" } } }, "hgnc_date_symbol_changed": "2005-05-19" }, "entity_type": "gene", "entity_name": "HAX1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17187068", "18611981" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Neutropenia, severe congenital 3, autosomal recessive, MIM#610738" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Kir1.1", "ROMK1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6255", "gene_name": "potassium voltage-gated channel subfamily J member 1", "omim_gene": [ "600359" ], "alias_name": null, "gene_symbol": "KCNJ1", "hgnc_symbol": "KCNJ1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:128706210-128737268", "ensembl_id": "ENSG00000151704" } }, "GRch38": { "90": { "location": "11:128836315-128867373", "ensembl_id": "ENSG00000151704" } } }, "hgnc_date_symbol_changed": "1993-08-03" }, "entity_type": "gene", "entity_name": "KCNJ1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Bartter syndrome, type 2, MIM#241200" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0042" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19181", "gene_name": "kinesin family member 14", "omim_gene": [ "611279" ], "alias_name": null, "gene_symbol": "KIF14", "hgnc_symbol": "KIF14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:200520628-200589862", "ensembl_id": "ENSG00000118193" } }, "GRch38": { "90": { "location": "1:200551497-200620734", "ensembl_id": "ENSG00000118193" } } }, "hgnc_date_symbol_changed": "2002-09-12" }, "entity_type": "gene", "entity_name": "KIF14", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29343805", "28892560", "24128419" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Microcephaly 20, primary, autosomal recessive, MIM #617914" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "p62", "p60", "p62B", "A170" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11280", "gene_name": "sequestosome 1", "omim_gene": [ "601530" ], "alias_name": null, "gene_symbol": "SQSTM1", "hgnc_symbol": "SQSTM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:179233388-179265078", "ensembl_id": "ENSG00000161011" } }, "GRch38": { "90": { "location": "5:179806398-179838078", "ensembl_id": "ENSG00000161011" } } }, "hgnc_date_symbol_changed": "2000-06-13" }, "entity_type": "gene", "entity_name": "SQSTM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27545679", "39214971" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM#617145" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Calmbp1", "ASP", "FLJ10517", "FLJ10549" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19048", "gene_name": "abnormal spindle microtubule assembly", "omim_gene": [ "605481" ], "alias_name": null, "gene_symbol": "ASPM", "hgnc_symbol": "ASPM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:197053258-197115824", "ensembl_id": "ENSG00000066279" } }, "GRch38": { "90": { "location": "1:197084128-197146694", "ensembl_id": "ENSG00000066279" } } }, "hgnc_date_symbol_changed": "2002-08-13" }, "entity_type": "gene", "entity_name": "ASPM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18452193", "19332161", "19770472", "27250695", "29243349" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Microcephaly 5, primary, autosomal recessive (MIM#608716)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TNSALP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:438", "gene_name": "alkaline phosphatase, liver/bone/kidney", "omim_gene": [ "171760" ], "alias_name": null, "gene_symbol": "ALPL", "hgnc_symbol": "ALPL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:21835858-21904905", "ensembl_id": "ENSG00000162551" } }, "GRch38": { "90": { "location": "1:21509372-21578412", "ensembl_id": "ENSG00000162551" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ALPL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19500388", "23688511", "32029969", "24569605" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Hypophosphatasia, childhood (MIM#241510)", "Hypophosphatasia, infantile (MIM#241500)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2214", "gene_name": "collagen type VII alpha 1 chain", "omim_gene": [ "120120" ], "alias_name": [ "collagen VII, alpha-1 polypeptide", "LC collagen" ], "gene_symbol": "COL7A1", "hgnc_symbol": "COL7A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:48601506-48632700", "ensembl_id": "ENSG00000114270" } }, "GRch38": { "90": { "location": "3:48564073-48595267", "ensembl_id": "ENSG00000114270" } } }, "hgnc_date_symbol_changed": "1991-11-01" }, "entity_type": "gene", "entity_name": "COL7A1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "EBD inversa, MIM# 226600", "EBD, Bart type MIM# 132000 EBD, localisata variant", "Epidermolysis bullosa dystrophica, MIM# 131750", "Epidermolysis bullosa dystrophica, 226600", "Epidermolysis bullosa pruriginosa 604129", "Epidermolysis bullosa, pretibial, MIM# 131850", "Transient bullous of the newborn 131705" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HFE3", "TFRC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11762", "gene_name": "transferrin receptor 2", "omim_gene": [ "604720" ], "alias_name": null, "gene_symbol": "TFR2", "hgnc_symbol": "TFR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:100218039-100240402", "ensembl_id": "ENSG00000106327" } }, "GRch38": { "90": { "location": "7:100620416-100642779", "ensembl_id": "ENSG00000106327" } } }, "hgnc_date_symbol_changed": "1998-06-03" }, "entity_type": "gene", "entity_name": "TFR2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Hemochromatosis type 3" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11301", "gene_name": "signal recognition particle 54", "omim_gene": [ "604857" ], "alias_name": null, "gene_symbol": "SRP54", "hgnc_symbol": "SRP54", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:35451163-35498773", "ensembl_id": "ENSG00000100883" } }, "GRch38": { "90": { "location": "14:34981957-35029567", "ensembl_id": "ENSG00000100883" } } }, "hgnc_date_symbol_changed": "1991-12-05" }, "entity_type": "gene", "entity_name": "SRP54", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "BeginNGS" ], "phenotypes": [ "Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "treatable", "immunological" ], "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": [ "FLJ23209", "bA108L7.8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26257", "gene_name": "PDZ domain containing 7", "omim_gene": [ "612971" ], "alias_name": null, "gene_symbol": "PDZD7", "hgnc_symbol": "PDZD7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:102767440-102790890", "ensembl_id": "ENSG00000186862" } }, "GRch38": { "90": { "location": "10:101007683-101031157", "ensembl_id": "ENSG00000186862" } } }, "hgnc_date_symbol_changed": "2006-01-24" }, "entity_type": "gene", "entity_name": "PDZD7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "BabySeq Category A gene" ], "phenotypes": [ "Deafness, autosomal recessive 57, MIM# 618003", "Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "deafness" ], "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": [ "SOTV" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3513", "gene_name": "exostosin glycosyltransferase 2", "omim_gene": [ "608210" ], "alias_name": [ "Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase" ], "gene_symbol": "EXT2", "hgnc_symbol": "EXT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:44117099-44266979", "ensembl_id": "ENSG00000151348" } }, "GRch38": { "90": { "location": "11:44095549-44245429", "ensembl_id": "ENSG00000151348" } } }, "hgnc_date_symbol_changed": "1994-06-01" }, "entity_type": "gene", "entity_name": "EXT2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Seizures, scoliosis, and macrocephaly syndrome, MIM#616682" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ13687", "C18orf6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:31042", "gene_name": "growth regulation by estrogen in breast cancer 1 like", "omim_gene": null, "alias_name": null, "gene_symbol": "GREB1L", "hgnc_symbol": "GREB1L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:18822203-19105378", "ensembl_id": "ENSG00000141449" } }, "GRch38": { "90": { "location": "18:21242242-21525417", "ensembl_id": "ENSG00000141449" } } }, "hgnc_date_symbol_changed": "2009-09-08" }, "entity_type": "gene", "entity_name": "GREB1L", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 29955957, 32585897" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Deafness, autosomal dominant 80\tMIM#619274" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "deafness" ], "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": [ "TACI", "CD267", "IGAD2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18153", "gene_name": "TNF receptor superfamily member 13B", "omim_gene": [ "604907" ], "alias_name": null, "gene_symbol": "TNFRSF13B", "hgnc_symbol": "TNFRSF13B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:16832849-16875432", "ensembl_id": "ENSG00000240505" } }, "GRch38": { "90": { "location": "17:16929816-16972118", "ensembl_id": "ENSG00000240505" } } }, "hgnc_date_symbol_changed": "2002-05-22" }, "entity_type": "gene", "entity_name": "TNFRSF13B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 31681716, PMID: 18981294" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Immunodeficiency, common variable, 2 MIM#240500" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [ "treatable", "immunological" ], "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": [ "HGPS", "MADA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6636", "gene_name": "lamin A/C", "omim_gene": [ "150330" ], "alias_name": [ "mandibuloacral dysplasia type A" ], "gene_symbol": "LMNA", "hgnc_symbol": "LMNA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:156052364-156109880", "ensembl_id": "ENSG00000160789" } }, "GRch38": { "90": { "location": "1:156082573-156140089", "ensembl_id": "ENSG00000160789" } } }, "hgnc_date_symbol_changed": "1992-04-09" }, "entity_type": "gene", "entity_name": "LMNA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33947203" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cardiomyopathy, dilated, 1A, MIM# 115200" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4126, "hash_id": null, "name": "Transplant Co-Morbidity", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma", "status": "public", "version": "0.21", "version_created": "2026-01-16T12:00:12.269232+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 278, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SCDO2", "bHLHc6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29659", "gene_name": "mesoderm posterior bHLH transcription factor 2", "omim_gene": [ "605195" ], "alias_name": null, "gene_symbol": "MESP2", "hgnc_symbol": "MESP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:90303822-90321982", "ensembl_id": "ENSG00000188095" } }, "GRch38": { "90": { "location": "15:89760591-89778754", "ensembl_id": "ENSG00000188095" } } }, "hgnc_date_symbol_changed": "2005-10-21" }, "entity_type": "gene", "entity_name": "MESP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18485326", "15122512", "20301771" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Spondylocostal dysostosis 2, MIM #608681" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4225, "hash_id": null, "name": "Prepair 500+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.1", "version_created": "2026-04-24T17:01:18.976102+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 629, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:870", "gene_name": "ATPase copper transporting beta", "omim_gene": [ "606882" ], "alias_name": [ "Wilson disease", "copper pump 2", "copper-transporting ATPase 2" ], "gene_symbol": "ATP7B", "hgnc_symbol": "ATP7B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:52506809-52585630", "ensembl_id": "ENSG00000123191" } }, "GRch38": { "90": { "location": "13:51930436-52012125", "ensembl_id": "ENSG00000123191" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ATP7B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28433102", "35042319", "8298639", "9554743", "10790207", "7626145", "16133174", "28433102" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Wilson disease (MIM#277900)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4225, "hash_id": null, "name": "Prepair 500+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.1", "version_created": "2026-04-24T17:01:18.976102+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 629, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "POLG1", "POLGA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9179", "gene_name": "DNA polymerase gamma, catalytic subunit", "omim_gene": [ "174763" ], "alias_name": null, "gene_symbol": "POLG", "hgnc_symbol": "POLG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:89859534-89878092", "ensembl_id": "ENSG00000140521" } }, "GRch38": { "90": { "location": "15:89305198-89334861", "ensembl_id": "ENSG00000140521" } } }, "hgnc_date_symbol_changed": "1992-02-06" }, "entity_type": "gene", "entity_name": "POLG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission", "Mackenzie's Mission" ], "phenotypes": [ "Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700", "Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM#613662" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4225, "hash_id": null, "name": "Prepair 500+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.1", "version_created": "2026-04-24T17:01:18.976102+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 629, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null } ] }