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GET /api/v1/entities/?format=api&page=266
{ "count": 36038, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=267", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=265", "results": [ { "gene_data": { "alias": [ "CD171" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6470", "gene_name": "L1 cell adhesion molecule", "omim_gene": [ "308840" ], "alias_name": [ "neural cell adhesion molecule L1" ], "gene_symbol": "L1CAM", "hgnc_symbol": "L1CAM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153126969-153174677", "ensembl_id": "ENSG00000198910" } }, "GRch38": { "90": { "location": "X:153861514-153909223", "ensembl_id": "ENSG00000198910" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "L1CAM", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9926316", "27066571" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Brain Malformations Flagship" ], "phenotypes": [ "L1CAM-related disease" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": "0.204", "version_created": "2025-12-18T09:49:46.643708+11:00", "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": [ "FLJ20069", "ORF1", "JBTS3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21575", "gene_name": "Abelson helper integration site 1", "omim_gene": [ "608894" ], "alias_name": [ "Jouberin" ], "gene_symbol": "AHI1", "hgnc_symbol": "AHI1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:135604670-135818914", "ensembl_id": "ENSG00000135541" } }, "GRch38": { "90": { "location": "6:135283532-135497776", "ensembl_id": "ENSG00000135541" } } }, "hgnc_date_symbol_changed": "2003-08-22" }, "entity_type": "gene", "entity_name": "AHI1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15467982" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Brain Malformations Flagship" ], "phenotypes": [ "Joubert syndrome 3, MIM# 608629" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": "0.204", "version_created": "2025-12-18T09:49:46.643708+11:00", "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": [ "SSV" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8800", "gene_name": "platelet derived growth factor subunit B", "omim_gene": [ "190040" ], "alias_name": [ "oncogene SIS", "becaplermin" ], "gene_symbol": "PDGFB", "hgnc_symbol": "PDGFB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:39619364-39640756", "ensembl_id": "ENSG00000100311" } }, "GRch38": { "90": { "location": "22:39223359-39244751", "ensembl_id": "ENSG00000100311" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PDGFB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23913003" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Basal ganglia calcification, idiopathic, 5, MIM# 615483" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 26, "hash_id": null, "name": "Early-onset Parkinson disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "2.51", "version_created": "2026-03-30T11:47:22.375379+11:00", "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": [ "RALDH3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:409", "gene_name": "aldehyde dehydrogenase 1 family member A3", "omim_gene": [ "600463" ], "alias_name": [ "retinaldehyde dehydrogenase 3" ], "gene_symbol": "ALDH1A3", "hgnc_symbol": "ALDH1A3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:101417919-101456831", "ensembl_id": "ENSG00000184254" } }, "GRch38": { "90": { "location": "15:100877714-100916626", "ensembl_id": "ENSG00000184254" } } }, "hgnc_date_symbol_changed": "1994-07-07" }, "entity_type": "gene", "entity_name": "ALDH1A3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23312594", "23591992", "30200890", "28890889", "26873617", "24777706" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Microphthalmia, isolated 8, MIM# 615113" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 42, "hash_id": null, "name": "Anophthalmia_Microphthalmia_Coloboma", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS, and contains genes associated with isolated and syndromic anophthalmia, microphthalmia and coloboma.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Anophthalmia or Microphthalmia' v1.31 and 'Ocular coloboma' v1.38 panels, with discrepancies reviewed and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.57", "version_created": "2026-03-03T11:23:37.804849+11:00", "relevant_disorders": [ "Anophthalmia", "HP:0000528;Microphthalmia", "HP:0000568;Coloboma", "HP:0000589" ], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ZNF925" ], "biotype": "protein_coding", "hgnc_id": "HGNC:32550", "gene_name": "zinc finger and BTB domain containing 42", "omim_gene": [ "613915" ], "alias_name": null, "gene_symbol": "ZBTB42", "hgnc_symbol": "ZBTB42", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:105266933-105271049", "ensembl_id": "ENSG00000179627" } }, "GRch38": { "90": { "location": "14:104800596-104804712", "ensembl_id": "ENSG00000179627" } } }, "hgnc_date_symbol_changed": "2006-03-15" }, "entity_type": "gene", "entity_name": "ZBTB42", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25055871" ], "evidence": [ "Expert Review Amber", "Expert Review" ], "phenotypes": [ "Lethal congenital contracture syndrome 6, MIM# 616248" ], "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": [] }, { "gene_data": { "alias": [ "SARCOSIN", "Krp1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16905", "gene_name": "kelch like family member 41", "omim_gene": [ "607701" ], "alias_name": [ "sarcomeric muscle protein" ], "gene_symbol": "KLHL41", "hgnc_symbol": "KLHL41", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:170366212-170382772", "ensembl_id": "ENSG00000239474" } }, "GRch38": { "90": { "location": "2:169509702-169526262", "ensembl_id": "ENSG00000239474" } } }, "hgnc_date_symbol_changed": "2013-01-08" }, "entity_type": "gene", "entity_name": "KLHL41", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24268659", "30986853", "28939701", "28826497" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Nemaline myopathy 9, MIM# 615731" ], "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": [ "GOK", "D11S4896E" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11386", "gene_name": "stromal interaction molecule 1", "omim_gene": [ "605921" ], "alias_name": null, "gene_symbol": "STIM1", "hgnc_symbol": "STIM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:3875757-4114439", "ensembl_id": "ENSG00000167323" } }, "GRch38": { "90": { "location": "11:3854527-4093210", "ensembl_id": "ENSG00000167323" } } }, "hgnc_date_symbol_changed": "1997-02-05" }, "entity_type": "gene", "entity_name": "STIM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23332920", "31448844" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Myopathy, tubular aggregate, 1 160565", "Stormorken syndrome 185070" ], "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": [ "KIAA1034", "FLJ21474" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21637", "gene_name": "SATB homeobox 2", "omim_gene": [ "608148" ], "alias_name": null, "gene_symbol": "SATB2", "hgnc_symbol": "SATB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:200134223-200335989", "ensembl_id": "ENSG00000119042" } }, "GRch38": { "90": { "location": "2:199269500-199471266", "ensembl_id": "ENSG00000119042" } } }, "hgnc_date_symbol_changed": "2003-07-08" }, "entity_type": "gene", "entity_name": "SATB2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 51, "hash_id": null, "name": "Autism", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.248", "version_created": "2026-03-19T12:51:18.584438+11:00", "relevant_disorders": [ "Autism", "HP:0000717" ], "stats": { "number_of_genes": 157, "number_of_strs": 0, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FI", "C3b-INA", "KAF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5394", "gene_name": "complement factor I", "omim_gene": [ "217030" ], "alias_name": [ "Konglutinogen-activating factor", "C3b-inactivator" ], "gene_symbol": "CFI", "hgnc_symbol": "CFI", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:110661852-110723335", "ensembl_id": "ENSG00000205403" } }, "GRch38": { "90": { "location": "4:109740694-109802179", "ensembl_id": "ENSG00000205403" } } }, "hgnc_date_symbol_changed": "2006-02-10" }, "entity_type": "gene", "entity_name": "CFI", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "{Haemolytic uremic syndrome, atypical, susceptibility to, 3}, MIM#\t612923" ], "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": [] }, { "gene_data": { "alias": [ "L27" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10328", "gene_name": "ribosomal protein L27", "omim_gene": [ "607526" ], "alias_name": [ "60S ribosomal protein L27" ], "gene_symbol": "RPL27", "hgnc_symbol": "RPL27", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:41150290-41154976", "ensembl_id": "ENSG00000131469" } }, "GRch38": { "90": { "location": "17:42998273-43002959", "ensembl_id": "ENSG00000131469" } } }, "hgnc_date_symbol_changed": "1994-05-16" }, "entity_type": "gene", "entity_name": "RPL27", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25424902" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Diamond-Blackfan anemia 16, MIM# 617408" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 56, "hash_id": null, "name": "Bone Marrow Failure", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "Bone marrow failure (BMF) refers to the decreased production of one or more major haematopoietic lineages which leads to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.", "status": "public", "version": "1.141", "version_created": "2026-03-17T18:48:23.244194+11:00", "relevant_disorders": [ "Abnormality of multiple cell lineages of the bone marrow", "HP:0012145" ], "stats": { "number_of_genes": 151, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Gwt1", "FLJ37433" ], "biotype": null, "hgnc_id": "HGNC:23213", "gene_name": "phosphatidylinositol glycan anchor biosynthesis class W", "omim_gene": [ "610275" ], "alias_name": null, "gene_symbol": "PIGW", "hgnc_symbol": "PIGW", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:34890847-34895159", "ensembl_id": "ENSG00000184886" } }, "GRch38": { "90": { "location": "17:36535020-36539310", "ensembl_id": "ENSG00000277161" } } }, "hgnc_date_symbol_changed": "2003-10-14" }, "entity_type": "gene", "entity_name": "PIGW", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24367057", "27626616", "30813920", "32198969" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glycosylphosphatidylinositol biosynthesis defect 11, MIM#\t616025" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 68, "hash_id": null, "name": "Congenital Disorders of Glycosylation", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital Disorders of Glycosylation' panel v2.4 with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.85", "version_created": "2026-04-02T10:46:27.496905+11:00", "relevant_disorders": [ "Abnormal transferrin saturation", "HP:0040135" ], "stats": { "number_of_genes": 141, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "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": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Wilson disease, MIM# 277900" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": [ "MRP7", "ABC35", "TNR-CFTR", "dJ760C5.1", "CFTR/MRP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1884", "gene_name": "cystic fibrosis transmembrane conductance regulator", "omim_gene": [ "602421" ], "alias_name": [ "ATP-binding cassette sub-family C, member 7" ], "gene_symbol": "CFTR", "hgnc_symbol": "CFTR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:117105838-117356025", "ensembl_id": "ENSG00000001626" } }, "GRch38": { "90": { "location": "7:117465784-117715971", "ensembl_id": "ENSG00000001626" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "CFTR", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25097709" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cystic fibrosis, MIM# 219700" ], "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": [ "p300", "KAT3B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3373", "gene_name": "E1A binding protein p300", "omim_gene": [ "602700" ], "alias_name": [ "histone acetyltransferase p300" ], "gene_symbol": "EP300", "hgnc_symbol": "EP300", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:41487790-41576081", "ensembl_id": "ENSG00000100393" } }, "GRch38": { "90": { "location": "22:41091786-41180079", "ensembl_id": "ENSG00000100393" } } }, "hgnc_date_symbol_changed": "1998-07-31" }, "entity_type": "gene", "entity_name": "EP300", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31137009", "33442921", "2240025", "31414570", "33043588" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Rubinstein-Taybi syndrome 2, OMIM #613684" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 118, "hash_id": null, "name": "Hyperinsulinism", "disease_group": "Endocrine disorders", "disease_sub_group": "", "description": "This panel was developed by and is maintained by VCGS and RMH.\r\n\r\nThis panel contains genes associated with hyperinsulinism (non-syndromic and syndromic). \r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital hyperinsulinism' panel V3.5, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nFor severe, persistent hypoglycaemia, consider also applying the Metabolic Disorders Superpanel, or more specifically, the Glycogen Storage Diseases and Fatty Acid Oxidation Defects panels.\r\n\r\nIf features of the following diagnoses, request alternate genetic test listed:\r\na) Beckwith-Wiedeman syndrome - request BWS methylation studies\r\nb) Congenital central hypoventilation syndrome - request PHOX2B poly-A expansion repeat testing", "status": "public", "version": "1.51", "version_created": "2026-03-09T16:58:00.909830+11:00", "relevant_disorders": [ "Hyperinsulinaemia", "HP:0000842;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 35, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PEX", "HPDR1", "HYP1", "XLH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8918", "gene_name": "phosphate regulating endopeptidase homolog X-linked", "omim_gene": [ "300550" ], "alias_name": null, "gene_symbol": "PHEX", "hgnc_symbol": "PHEX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:22050559-22269427", "ensembl_id": "ENSG00000102174" } }, "GRch38": { "90": { "location": "X:22032441-22251310", "ensembl_id": "ENSG00000102174" } } }, "hgnc_date_symbol_changed": "1986-01-06" }, "entity_type": "gene", "entity_name": "PHEX", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12727977", "30682568" ], "evidence": [ "Expert Review Green", "Expert Review Green", "KidGen_CalcPhos v38.1.0", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypophosphatemic rickets, MIM#307800" ], "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": [ "SV/CNV" ], "panel": { "id": 122, "hash_id": null, "name": "Hypophosphataemia or rickets", "disease_group": "Endocrine disorders; Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hypophosphataemia or rickets. \r\n\r\nIt has been compared against the Genomics England PanelApp 'hypophosphataemia or rickets' panel V4.1, with all discrepancies reviewed and resolved (October 2025).", "status": "public", "version": "0.53", "version_created": "2026-02-05T11:00:41.159014+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 19, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BLAU", "CD", "PSORAS1", "CLR16.3", "NLRC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5331", "gene_name": "nucleotide binding oligomerization domain containing 2", "omim_gene": [ "605956" ], "alias_name": [ "nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2" ], "gene_symbol": "NOD2", "hgnc_symbol": "NOD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:50727514-50766988", "ensembl_id": "ENSG00000167207" } }, "GRch38": { "90": { "location": "16:50693603-50734041", "ensembl_id": "ENSG00000167207" } } }, "hgnc_date_symbol_changed": "2006-12-08" }, "entity_type": "gene", "entity_name": "NOD2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "11385576", "17804789" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "{Inflammatory bowel disease 1, Crohn disease}\t266600", "{Yao syndrome}\t617321" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 123, "hash_id": null, "name": "Inflammatory bowel disease", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.126", "version_created": "2025-10-16T15:50:33.114198+11:00", "relevant_disorders": [ "Gastrointestinal inflammation", "HP:0004386" ], "stats": { "number_of_genes": 85, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Kir3.2", "GIRK2", "KATP2", "BIR1", "hiGIRK2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6267", "gene_name": "potassium voltage-gated channel subfamily J member 6", "omim_gene": [ "600877" ], "alias_name": null, "gene_symbol": "KCNJ6", "hgnc_symbol": "KCNJ6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:38979678-39288749", "ensembl_id": "ENSG00000157542" } }, "GRch38": { "90": { "location": "21:37607376-37916446", "ensembl_id": "ENSG00000157542" } } }, "hgnc_date_symbol_changed": "1995-04-13" }, "entity_type": "gene", "entity_name": "KCNJ6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25620207", "29852244" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Keppen-Lubinsky syndrome, MIM# 614098", "MONDO:0013572" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 130, "hash_id": null, "name": "Lipodystrophy_Lipoatrophy", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.", "status": "public", "version": "1.42", "version_created": "2026-02-17T18:29:33.924527+11:00", "relevant_disorders": [ "Lipodystrophy", "HP:0009125" ], "stats": { "number_of_genes": 39, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Hb-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6458", "gene_name": "keratin 81", "omim_gene": [ "602153" ], "alias_name": [ "hard keratin type II 1" ], "gene_symbol": "KRT81", "hgnc_symbol": "KRT81", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:52679697-52685318", "ensembl_id": "ENSG00000205426" } }, "GRch38": { "90": { "location": "12:52285913-52291534", "ensembl_id": "ENSG00000205426" } } }, "hgnc_date_symbol_changed": "2006-07-17" }, "entity_type": "gene", "entity_name": "KRT81", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9402962", "22628999" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Monilethrix, MIM# 621169" ], "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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ11506", "p34" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25662", "gene_name": "alpha and gamma adaptin binding protein", "omim_gene": [ "614888" ], "alias_name": null, "gene_symbol": "AAGAB", "hgnc_symbol": "AAGAB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:67493371-67547533", "ensembl_id": "ENSG00000103591" } }, "GRch38": { "90": { "location": "15:67201033-67255195", "ensembl_id": "ENSG00000103591" } } }, "hgnc_date_symbol_changed": "2009-07-20" }, "entity_type": "gene", "entity_name": "AAGAB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30451279", "26608363" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Keratoderma, palmoplantar, punctate type IA (MIM#148600)" ], "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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "JM1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28909", "gene_name": "coiled-coil domain containing 22", "omim_gene": [ "300859" ], "alias_name": null, "gene_symbol": "CCDC22", "hgnc_symbol": "CCDC22", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:49091927-49106987", "ensembl_id": "ENSG00000101997" } }, "GRch38": { "90": { "location": "X:49235467-49250526", "ensembl_id": "ENSG00000101997" } } }, "hgnc_date_symbol_changed": "2005-07-24" }, "entity_type": "gene", "entity_name": "CCDC22", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21826058", "24916641", "34020006", "33059814", "31971710" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ritscher-Schinzel syndrome 2, MIM# 300963" ], "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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ORCAM", "CDO", "CDON1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17104", "gene_name": "cell adhesion associated, oncogene regulated", "omim_gene": [ "608707" ], "alias_name": [ "cell adhesion molecule-related/down-regulated by oncogenes" ], "gene_symbol": "CDON", "hgnc_symbol": "CDON", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:125825691-125933230", "ensembl_id": "ENSG00000064309" } }, "GRch38": { "90": { "location": "11:125955796-126063335", "ensembl_id": "ENSG00000064309" } } }, "hgnc_date_symbol_changed": "2001-11-02" }, "entity_type": "gene", "entity_name": "CDON", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21802063", "26529631", "26728615", "23071453" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Holoprosencephaly 11, MIM# 614226", "MONDO:0013642" ], "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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8522", "gene_name": "orthodenticle homeobox 2", "omim_gene": [ "600037" ], "alias_name": null, "gene_symbol": "OTX2", "hgnc_symbol": "OTX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:57267425-57277197", "ensembl_id": "ENSG00000165588" } }, "GRch38": { "90": { "location": "14:56799905-56810479", "ensembl_id": "ENSG00000165588" } } }, "hgnc_date_symbol_changed": "1994-02-08" }, "entity_type": "gene", "entity_name": "OTX2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Microphthalmia, syndromic 5, MIM# 610125", "Pituitary hormone deficiency, combined, 6, MIM# 613986", "Retinal dystrophy, early-onset, with or without pituitary dysfunction, MIM# 610125" ], "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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "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": [ "20440071", "19028668", "26416264", "26849169", "27068579", "26445815", "28173822l", "24334608" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Deafness, autosomal recessive 57, MIM# 618003", "Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472" ], "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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PHOX1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9142", "gene_name": "paired related homeobox 1", "omim_gene": [ "167420" ], "alias_name": null, "gene_symbol": "PRRX1", "hgnc_symbol": "PRRX1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:170631869-170708560", "ensembl_id": "ENSG00000116132" } }, "GRch38": { "90": { "location": "1:170662728-170739419", "ensembl_id": "ENSG00000116132" } } }, "hgnc_date_symbol_changed": "2003-11-14" }, "entity_type": "gene", "entity_name": "PRRX1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21294718", "22211708", "22674740", "23444262" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Agnathia-otocephaly complex, MIM# 202650" ], "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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "EL2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11272", "gene_name": "spectrin alpha, erythrocytic 1", "omim_gene": [ "182860" ], "alias_name": [ "elliptocytosis 2" ], "gene_symbol": "SPTA1", "hgnc_symbol": "SPTA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:158580496-158656488", "ensembl_id": "ENSG00000163554" } }, "GRch38": { "90": { "location": "1:158610706-158686698", "ensembl_id": "ENSG00000163554" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "SPTA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9075575", "8018926", "29484404", "27667160", "31333484", "8941647", "3785322" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Elliptocytosis-2 MIM# 130600", "Pyropoikilocytosis MIM# 266140", "Spherocytosis, type 3 MIM# 270970" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TGX" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11781", "gene_name": "transglutaminase 5", "omim_gene": [ "603805" ], "alias_name": null, "gene_symbol": "TGM5", "hgnc_symbol": "TGM5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:43524793-43559055", "ensembl_id": "ENSG00000104055" } }, "GRch38": { "90": { "location": "15:43232595-43266857", "ensembl_id": "ENSG00000104055" } } }, "hgnc_date_symbol_changed": "1999-03-19" }, "entity_type": "gene", "entity_name": "TGM5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16380904" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Peeling skin syndrome 2, MIM#\t609796" ], "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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:23663", "gene_name": "vitamin K epoxide reductase complex subunit 1", "omim_gene": [ "608547" ], "alias_name": null, "gene_symbol": "VKORC1", "hgnc_symbol": "VKORC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:31102163-31107301", "ensembl_id": "ENSG00000167397" } }, "GRch38": { "90": { "location": "16:31090842-31095980", "ensembl_id": "ENSG00000167397" } } }, "hgnc_date_symbol_changed": "2004-02-04" }, "entity_type": "gene", "entity_name": "VKORC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "14765194", "21900891", "28198005" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM# 607473", "Warfarin resistance, MIM# 122700" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SAP145", "SF3b1", "Cus1", "SF3b145" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10769", "gene_name": "splicing factor 3b subunit 2", "omim_gene": [ "605591" ], "alias_name": null, "gene_symbol": "SF3B2", "hgnc_symbol": "SF3B2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:65818200-65836779", "ensembl_id": "ENSG00000087365" } }, "GRch38": { "90": { "location": "11:66050729-66069308", "ensembl_id": "ENSG00000087365" } } }, "hgnc_date_symbol_changed": "2000-02-29" }, "entity_type": "gene", "entity_name": "SF3B2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34344887" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Craniofacial microsomia, MIM#164210" ], "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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "E1k" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8124", "gene_name": "oxoglutarate dehydrogenase", "omim_gene": [ "613022" ], "alias_name": null, "gene_symbol": "OGDH", "hgnc_symbol": "OGDH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:44646171-44748665", "ensembl_id": "ENSG00000105953" } }, "GRch38": { "90": { "location": "7:44606572-44709066", "ensembl_id": "ENSG00000105953" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "OGDH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32383294", "36520152" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Oxoglutarate dehydrogenase deficiency, MIM# 203740", "Developmental delay", "ataxia", "seizure", "raised lactate" ], "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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:22219", "gene_name": "KIAA1549", "omim_gene": [ "613344" ], "alias_name": null, "gene_symbol": "KIAA1549", "hgnc_symbol": "KIAA1549", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:138516126-138666064", "ensembl_id": "ENSG00000122778" } }, "GRch38": { "90": { "location": "7:138831381-138981318", "ensembl_id": "ENSG00000122778" } } }, "hgnc_date_symbol_changed": "2008-04-22" }, "entity_type": "gene", "entity_name": "KIAA1549", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30120214", "34027671" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "retinitis pigmentosa 86 MONDO:0032834" ], "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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ32389", "Hsp20", "PPP1R91" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26511", "gene_name": "heat shock protein family B (small) member 6", "omim_gene": [ "610695" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 91" ], "gene_symbol": "HSPB6", "hgnc_symbol": "HSPB6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:36245469-36248980", "ensembl_id": "ENSG00000004776" } }, "GRch38": { "90": { "location": "19:35754569-35758079", "ensembl_id": "ENSG00000004776" } } }, "hgnc_date_symbol_changed": "2004-05-12" }, "entity_type": "gene", "entity_name": "HSPB6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29157081" ], "evidence": [ "Literature" ], "phenotypes": [ "Dilated cardiomyopathy, MONDO:0005021, HSPB6-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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "LGMD2M" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3622", "gene_name": "fukutin", "omim_gene": [ "607440" ], "alias_name": null, "gene_symbol": "FKTN", "hgnc_symbol": "FKTN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:108320411-108403399", "ensembl_id": "ENSG00000106692" } }, "GRch38": { "90": { "location": "9:105558130-105641118", "ensembl_id": "ENSG00000106692" } } }, "hgnc_date_symbol_changed": "2007-11-21" }, "entity_type": "gene", "entity_name": "FKTN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9690476", "19017726", "20301385", "28680109" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy MONDO:0018276" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 141, "hash_id": null, "name": "Muscular dystrophy and myopathy_Paediatric", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.122", "version_created": "2026-04-02T11:45:25.115390+11:00", "relevant_disorders": [ "Muscular dystrophy", "HP:0003560; Elevated circulating creatine kinase concentration", "HP:0003236; Myopathy", "HP:0003198" ], "stats": { "number_of_genes": 146, "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": [ "KIAA0605" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14631", "gene_name": "ADAMTS like 2", "omim_gene": [ "612277" ], "alias_name": null, "gene_symbol": "ADAMTSL2", "hgnc_symbol": "ADAMTSL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:136397286-136440641", "ensembl_id": "ENSG00000197859" } }, "GRch38": { "90": { "location": "9:133532164-133575519", "ensembl_id": "ENSG00000197859" } } }, "hgnc_date_symbol_changed": "2005-01-12" }, "entity_type": "gene", "entity_name": "ADAMTSL2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36896612" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 150, "hash_id": null, "name": "Osteopetrosis", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with osteopetrosis, a group of hereditary metabolic bone diseases, all of which detrimentally affect bone growth and remodelling leading to generalized osteosclerosis.\r\n\r\nThe panel includes skeletal dysplasias and syndromic disorders associated with bone sclerosis that can overlap with the clinical presentation of classical osteopetrosis.\r\n\r\nThis panel was developed and is maintained by VCGS. It has been compared against the Genomics England PanelApp 'osteopetrosis' panel V1.35, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nUpdated following literature review December 2025.", "status": "public", "version": "1.0", "version_created": "2025-12-22T12:45:57.007049+11:00", "relevant_disorders": [ "Increased bone mineral density", "HP:0011001" ], "stats": { "number_of_genes": 37, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ASH1", "HASH1", "bHLHa46" ], "biotype": "protein_coding", "hgnc_id": "HGNC:738", "gene_name": "achaete-scute family bHLH transcription factor 1", "omim_gene": [ "100790" ], "alias_name": null, "gene_symbol": "ASCL1", "hgnc_symbol": "ASCL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:103351464-103354294", "ensembl_id": "ENSG00000139352" } }, "GRch38": { "90": { "location": "12:102957686-102960516", "ensembl_id": "ENSG00000139352" } } }, "hgnc_date_symbol_changed": "1993-12-09" }, "entity_type": "gene", "entity_name": "ASCL1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "14532329" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Central hypoventilation syndrome, congenital, MIM# 209880" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 162, "hash_id": null, "name": "Pulmonary Fibrosis_Interstitial Lung Disease", "disease_group": "Respiratory disorders", "disease_sub_group": "", "description": "This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.", "status": "public", "version": "1.10", "version_created": "2026-03-17T11:39:32.713501+11:00", "relevant_disorders": [ "Pulmonary fibrosis", "HP:0002206; Abnormal pulmonary interstitial morphology", "HP:0006530" ], "stats": { "number_of_genes": 97, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "WDR140", "WDR10p", "SPG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13556", "gene_name": "intraflagellar transport 122", "omim_gene": [ "606045" ], "alias_name": null, "gene_symbol": "IFT122", "hgnc_symbol": "IFT122", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:129158968-129239198", "ensembl_id": "ENSG00000163913" } }, "GRch38": { "90": { "location": "3:129440036-129520507", "ensembl_id": "ENSG00000163913" } } }, "hgnc_date_symbol_changed": "2005-11-02" }, "entity_type": "gene", "entity_name": "IFT122", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29037998", "20493458", "23826986", "26792575", "29220510", "28370949", "27681595", "27681595" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cranioectodermal dysplasia 1, MIM# 218330", "MONDO:0021093", "Beemer-Langer syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 179, "hash_id": null, "name": "Skeletal Ciliopathies", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. \r\n\r\nThis panel contains genes associated with skeletal ciliopathies (including short rib polydactyly and jeune asphyxiating thoracic dystrophy).\r\n\r\nIt has been compared against the Genomics England PanelApp Skeletal Ciliopathy panel, with all differences resolved and reciprocal feedback provided to Genomics England, 24/05/2020.\r\n\r\nConsider applying the broader Skeletal Dysplasia panel if the clinical presentation is not entirely typical of a skeletal ciliopathy.", "status": "public", "version": "1.23", "version_created": "2026-02-26T20:48:41.390236+11:00", "relevant_disorders": [ "Short rib", "HP:0000773; Polydactyly", "HP:0010442; Bell-shaped thorax", "HP:0001591" ], "stats": { "number_of_genes": 37, "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": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ22329" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26182", "gene_name": "collagen beta(1-O)galactosyltransferase 1", "omim_gene": [ "617531" ], "alias_name": [ "Procollagen galactosyltransferase", "Hydroxylysine galactosyltransferase" ], "gene_symbol": "COLGALT1", "hgnc_symbol": "COLGALT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:17666403-17693971", "ensembl_id": "ENSG00000130309" } }, "GRch38": { "90": { "location": "19:17555594-17583162", "ensembl_id": "ENSG00000130309" } } }, "hgnc_date_symbol_changed": "2013-02-27" }, "entity_type": "gene", "entity_name": "COLGALT1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30412317", "33709034", "31759980" ], "evidence": [ "Expert Review Amber", "Expert Review", "Expert Review Green", "Other" ], "phenotypes": [ "Brain small vessel disease 3 MIM#618360" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:18550", "gene_name": "immediate early response 3 interacting protein 1", "omim_gene": [ "609382" ], "alias_name": null, "gene_symbol": "IER3IP1", "hgnc_symbol": "IER3IP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:44681413-44702745", "ensembl_id": "ENSG00000134049" } }, "GRch38": { "90": { "location": "18:47152834-47176374", "ensembl_id": "ENSG00000134049" } } }, "hgnc_date_symbol_changed": "2005-01-18" }, "entity_type": "gene", "entity_name": "IER3IP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21835305", "22991235", "24138066", "28711742" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231", "Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "trnE" ], "biotype": "Mt_tRNA", "hgnc_id": "HGNC:7479", "gene_name": "mitochondrially encoded tRNA glutamic acid", "omim_gene": [ "590025" ], "alias_name": null, "gene_symbol": "MT-TE", "hgnc_symbol": "MT-TE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:14674-14742", "ensembl_id": "ENSG00000210194" } }, "GRch38": { "90": { "location": "MT:14674-14742", "ensembl_id": "ENSG00000210194" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-TE", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "8155739", "21194154", "17715279", "23334599", "7726155", "7726154", "9353617", "15048886", "15670724", "23847141", "23334599", "17266923", "17056256" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-TE-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "panel": { "id": 203, "hash_id": null, "name": "Mitochondrial disease", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.", "status": "public", "version": "1.16", "version_created": "2026-03-13T18:22:35.610861+11:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 438, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PPO" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9280", "gene_name": "protoporphyrinogen oxidase", "omim_gene": [ "600923" ], "alias_name": null, "gene_symbol": "PPOX", "hgnc_symbol": "PPOX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:161136200-161147803", "ensembl_id": "ENSG00000143224" } }, "GRch38": { "90": { "location": "1:161166410-161178013", "ensembl_id": "ENSG00000143224" } } }, "hgnc_date_symbol_changed": "1988-08-31" }, "entity_type": "gene", "entity_name": "PPOX", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25778941", "9811936", "12859407", "30476629" ], "evidence": [ "Expert Review Green", "Expert Review Green", "NHS GMS", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Porphyria variegata\tMIM#176200" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 203, "hash_id": null, "name": "Mitochondrial disease", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.", "status": "public", "version": "1.16", "version_created": "2026-03-13T18:22:35.610861+11:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 438, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ10842" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21869", "gene_name": "acylglycerol kinase", "omim_gene": [ "610345" ], "alias_name": null, "gene_symbol": "AGK", "hgnc_symbol": "AGK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:141250989-141355044", "ensembl_id": "ENSG00000006530" } }, "GRch38": { "90": { "location": "7:141551189-141655244", "ensembl_id": "ENSG00000006530" } } }, "hgnc_date_symbol_changed": "2007-01-11" }, "entity_type": "gene", "entity_name": "AGK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22415731", "25208612", "22415731", "25208612", "37354892" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Sengers syndrome, MIM#212350", "Cataract 38 MIM#614691" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 203, "hash_id": null, "name": "Mitochondrial disease", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.", "status": "public", "version": "1.16", "version_created": "2026-03-13T18:22:35.610861+11:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 438, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11474", "gene_name": "SURF1, cytochrome c oxidase assembly factor", "omim_gene": [ "185620" ], "alias_name": [ "surfeit locus protein 1" ], "gene_symbol": "SURF1", "hgnc_symbol": "SURF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:136218610-136223552", "ensembl_id": "ENSG00000148290" } }, "GRch38": { "90": { "location": "9:133351755-133356676", "ensembl_id": "ENSG00000148290" } } }, "hgnc_date_symbol_changed": "1989-11-29" }, "entity_type": "gene", "entity_name": "SURF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 205, "hash_id": null, "name": "Callosome", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.593", "version_created": "2026-04-02T11:47:10.809612+11:00", "relevant_disorders": [ "Abnormal corpus callosum morphology", "HP:0001273" ], "stats": { "number_of_genes": 459, "number_of_strs": 2, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ23356", "SgK196" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26267", "gene_name": "protein-O-mannose kinase", "omim_gene": [ "615247" ], "alias_name": null, "gene_symbol": "POMK", "hgnc_symbol": "POMK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:42948658-42978577", "ensembl_id": "ENSG00000185900" } }, "GRch38": { "90": { "location": "8:43093506-43123434", "ensembl_id": "ENSG00000185900" } } }, "hgnc_date_symbol_changed": "2013-08-22" }, "entity_type": "gene", "entity_name": "POMK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 205, "hash_id": null, "name": "Callosome", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.593", "version_created": "2026-04-02T11:47:10.809612+11:00", "relevant_disorders": [ "Abnormal corpus callosum morphology", "HP:0001273" ], "stats": { "number_of_genes": 459, "number_of_strs": 2, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DAP12", "PLO-SL", "KARAP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12449", "gene_name": "TYRO protein tyrosine kinase binding protein", "omim_gene": [ "604142" ], "alias_name": [ "killer activating receptor associated protein", "DNAX-activation protein 12" ], "gene_symbol": "TYROBP", "hgnc_symbol": "TYROBP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:36395303-36399197", "ensembl_id": "ENSG00000011600" } }, "GRch38": { "90": { "location": "19:35904401-35908295", "ensembl_id": "ENSG00000011600" } } }, "hgnc_date_symbol_changed": "1998-06-25" }, "entity_type": "gene", "entity_name": "TYROBP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 206, "hash_id": null, "name": "Regression", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.611", "version_created": "2026-04-07T13:48:08.700916+10:00", "relevant_disorders": [ "Developmental regression", "HP:0002376" ], "stats": { "number_of_genes": 442, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CIA1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14280", "gene_name": "cytosolic iron-sulfur assembly component 1", "omim_gene": [ "604333" ], "alias_name": null, "gene_symbol": "CIAO1", "hgnc_symbol": "CIAO1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:96931870-96939087", "ensembl_id": "ENSG00000144021" } }, "GRch38": { "90": { "location": "2:96266132-96273349", "ensembl_id": "ENSG00000144021" } } }, "hgnc_date_symbol_changed": "2006-11-23" }, "entity_type": "gene", "entity_name": "CIAO1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38411040", "38196629" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Multiple mitochondrial dysfunctions syndrome 10, MIM#620960" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 206, "hash_id": null, "name": "Regression", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.611", "version_created": "2026-04-07T13:48:08.700916+10:00", "relevant_disorders": [ "Developmental regression", "HP:0002376" ], "stats": { "number_of_genes": 442, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MM1", "KIAA0315", "PLEXB2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9104", "gene_name": "plexin B2", "omim_gene": [ "604293" ], "alias_name": null, "gene_symbol": "PLXNB2", "hgnc_symbol": "PLXNB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:50713408-50746056", "ensembl_id": "ENSG00000196576" } }, "GRch38": { "90": { "location": "22:50274979-50307627", "ensembl_id": "ENSG00000196576" } } }, "hgnc_date_symbol_changed": "1999-11-19" }, "entity_type": "gene", "entity_name": "PLXNB2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38458752" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Syndromic disease MONDO:0002254, PLXNB2 -related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 209, "hash_id": null, "name": "Deafness_IsolatedAndComplex", "disease_group": "Hearing and ear disorders", "disease_sub_group": "", "description": "This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.361", "version_created": "2026-04-11T11:20:22.713350+10:00", "relevant_disorders": [ "Hearing impairment", "HP:0000365" ], "stats": { "number_of_genes": 348, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RAD10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3433", "gene_name": "ERCC excision repair 1, endonuclease non-catalytic subunit", "omim_gene": [ "126380" ], "alias_name": null, "gene_symbol": "ERCC1", "hgnc_symbol": "ERCC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:45910591-45982086", "ensembl_id": "ENSG00000012061" } }, "GRch38": { "90": { "location": "19:45407333-45478828", "ensembl_id": "ENSG00000012061" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "ERCC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17273966", "23623389", "32557569", "26085086", "33315086" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Cerebrooculofacioskeletal syndrome 4, MIM# 610758", "MONDO:0012554" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "P5CR2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30262", "gene_name": "pyrroline-5-carboxylate reductase 2", "omim_gene": [ "616406" ], "alias_name": null, "gene_symbol": "PYCR2", "hgnc_symbol": "PYCR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:226107578-226111978", "ensembl_id": "ENSG00000143811" } }, "GRch38": { "90": { "location": "1:225919877-225924340", "ensembl_id": "ENSG00000143811" } } }, "hgnc_date_symbol_changed": "2004-03-11" }, "entity_type": "gene", "entity_name": "PYCR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25865492", "27130255" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Leukodystrophy, hypomyelinating, 10, MIM# 616420" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Nav1.2", "HBSCII", "HBSCI" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10588", "gene_name": "sodium voltage-gated channel alpha subunit 2", "omim_gene": [ "182390" ], "alias_name": null, "gene_symbol": "SCN2A", "hgnc_symbol": "SCN2A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:166095912-166248818", "ensembl_id": "ENSG00000136531" } }, "GRch38": { "90": { "location": "2:165194993-165392310", "ensembl_id": "ENSG00000136531" } } }, "hgnc_date_symbol_changed": "2007-01-23" }, "entity_type": "gene", "entity_name": "SCN2A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31230762", "31904126", "28256214", "31904120", "31924505", "31205438", "1325650", "17021166" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Developmental and epileptic encephalopathy 11, MIM#\t613721" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CGI-97", "FLJ10917", "SDS", "SWDS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19440", "gene_name": "SBDS, ribosome maturation factor", "omim_gene": [ "607444" ], "alias_name": null, "gene_symbol": "SBDS", "hgnc_symbol": "SBDS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:66452664-66460588", "ensembl_id": "ENSG00000126524" } }, "GRch38": { "90": { "location": "7:66987677-66995601", "ensembl_id": "ENSG00000126524" } } }, "hgnc_date_symbol_changed": "2003-07-02" }, "entity_type": "gene", "entity_name": "SBDS", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19906387" ], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [ "Shwachman-Diamond syndrome, MIM#260400" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8661", "gene_name": "protocadherin 9", "omim_gene": [ "603581" ], "alias_name": null, "gene_symbol": "PCDH9", "hgnc_symbol": "PCDH9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:66876967-67804468", "ensembl_id": "ENSG00000184226" } }, "GRch38": { "90": { "location": "13:66302834-67230445", "ensembl_id": "ENSG00000184226" } } }, "hgnc_date_symbol_changed": "1998-04-21" }, "entity_type": "gene", "entity_name": "PCDH9", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ25530", "hepaCAM", "GLIALCAM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26361", "gene_name": "hepatic and glial cell adhesion molecule", "omim_gene": [ "611642" ], "alias_name": [ "glial cell adhesion molecule" ], "gene_symbol": "HEPACAM", "hgnc_symbol": "HEPACAM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:124789089-124806308", "ensembl_id": "ENSG00000165478" } }, "GRch38": { "90": { "location": "11:124919193-124936412", "ensembl_id": "ENSG00000165478" } } }, "hgnc_date_symbol_changed": "2007-01-22" }, "entity_type": "gene", "entity_name": "HEPACAM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21419380", "24202401", "27389245", "31372844", "21419380", "24202401", "27322623" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Megalencephalic leukoencephalopathy with subcortical cysts 2A MONDO:0013490", "Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability MONDO:0013491" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CTP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10979", "gene_name": "solute carrier family 25 member 1", "omim_gene": [ "190315" ], "alias_name": null, "gene_symbol": "SLC25A1", "hgnc_symbol": "SLC25A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:19163095-19166343", "ensembl_id": "ENSG00000100075" } }, "GRch38": { "90": { "location": "22:19175575-19178830", "ensembl_id": "ENSG00000100075" } } }, "hgnc_date_symbol_changed": "1996-08-01" }, "entity_type": "gene", "entity_name": "SLC25A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31527857", "26870663" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072", "Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BS", "RECQL3", "RECQ2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1058", "gene_name": "Bloom syndrome RecQ like helicase", "omim_gene": [ "604610" ], "alias_name": null, "gene_symbol": "BLM", "hgnc_symbol": "BLM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:91260558-91358859", "ensembl_id": "ENSG00000197299" } }, "GRch38": { "90": { "location": "15:90717327-90816165", "ensembl_id": "ENSG00000197299" } } }, "hgnc_date_symbol_changed": "1992-11-06" }, "entity_type": "gene", "entity_name": "BLM", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [ "Bloom syndrome, MIM# 210900" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "M8-9", "APT6M8-9", "ATP6M8-9", "PRR", "RENR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18305", "gene_name": "ATPase H+ transporting accessory protein 2", "omim_gene": [ "300556" ], "alias_name": [ "prorenin receptor", "renin receptor" ], "gene_symbol": "ATP6AP2", "hgnc_symbol": "ATP6AP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:40440146-40465889", "ensembl_id": "ENSG00000182220" } }, "GRch38": { "90": { "location": "X:40579372-40606848", "ensembl_id": "ENSG00000182220" } } }, "hgnc_date_symbol_changed": "2003-08-29" }, "entity_type": "gene", "entity_name": "ATP6AP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Congenital disorder of glycosylation, type IIr MIM#301045 Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "dJ230I3.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21483", "gene_name": "solute carrier family 35 member F1", "omim_gene": null, "alias_name": null, "gene_symbol": "SLC35F1", "hgnc_symbol": "SLC35F1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:118228689-118638839", "ensembl_id": "ENSG00000196376" } }, "GRch38": { "90": { "location": "6:117907526-118317676", "ensembl_id": "ENSG00000196376" } } }, "hgnc_date_symbol_changed": "2003-11-26" }, "entity_type": "gene", "entity_name": "SLC35F1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33821533" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, SLC35F1-associated", "Rett-like syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KCa2.2", "hSK2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6291", "gene_name": "potassium calcium-activated channel subfamily N member 2", "omim_gene": [ "605879" ], "alias_name": [ "small conductance calcium-activated potassium channel 2" ], "gene_symbol": "KCNN2", "hgnc_symbol": "KCNN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:113696642-113832337", "ensembl_id": "ENSG00000080709" } }, "GRch38": { "90": { "location": "5:114360945-114496500", "ensembl_id": "ENSG00000080709" } } }, "hgnc_date_symbol_changed": "1998-04-07" }, "entity_type": "gene", "entity_name": "KCNN2", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "33242881" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MED", "THBS5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2227", "gene_name": "cartilage oligomeric matrix protein", "omim_gene": [ "600310" ], "alias_name": [ "thrombospondin-5" ], "gene_symbol": "COMP", "hgnc_symbol": "COMP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:18893583-18902123", "ensembl_id": "ENSG00000105664" } }, "GRch38": { "90": { "location": "19:18782773-18791314", "ensembl_id": "ENSG00000105664" } } }, "hgnc_date_symbol_changed": "1994-05-24" }, "entity_type": "gene", "entity_name": "COMP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Illumina TruGenome Clinical Sequencing Services", "Expert", "Eligibility statement prior genetic testing", "Expert Review Green", "NHS GMS", "Emory Genetics Laboratory" ], "phenotypes": [ "Epiphyseal dysplasia, multiple, 1 132400", "Pseudoachondroplasia 177170" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DAP12", "PLO-SL", "KARAP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12449", "gene_name": "TYRO protein tyrosine kinase binding protein", "omim_gene": [ "604142" ], "alias_name": [ "killer activating receptor associated protein", "DNAX-activation protein 12" ], "gene_symbol": "TYROBP", "hgnc_symbol": "TYROBP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:36395303-36399197", "ensembl_id": "ENSG00000011600" } }, "GRch38": { "90": { "location": "19:35904401-35908295", "ensembl_id": "ENSG00000011600" } } }, "hgnc_date_symbol_changed": "1998-06-25" }, "entity_type": "gene", "entity_name": "TYROBP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert Review Green", "NHS GMS", "Emory Genetics Laboratory", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Nasu-Hakola disease 221770" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "JP-3", "CAGL237", "HDL2", "JP3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14203", "gene_name": "junctophilin 3", "omim_gene": [ "605268" ], "alias_name": null, "gene_symbol": "JPH3", "hgnc_symbol": "JPH3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:87635441-87731762", "ensembl_id": "ENSG00000154118" } }, "GRch38": { "90": { "location": "16:87601835-87698156", "ensembl_id": "ENSG00000154118" } } }, "hgnc_date_symbol_changed": "2000-12-08" }, "entity_type": "gene", "entity_name": "JPH3", "confidence_level": "2", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "PMID: 36273396" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "paroxysmal dystonia, intellectual disability" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 259, "hash_id": null, "name": "Paroxysmal Dyskinesia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.", "status": "public", "version": "0.145", "version_created": "2026-01-09T20:58:50.808183+11:00", "relevant_disorders": [ "Paroxysmal dyskinesia", "HP:0007166" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ND4", "NAD4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7459", "gene_name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4", "omim_gene": [ "516003" ], "alias_name": [ "complex I ND4 subunit", "NADH-ubiquinone oxidoreductase chain 4" ], "gene_symbol": "MT-ND4", "hgnc_symbol": "MT-ND4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:10760-12137", "ensembl_id": "ENSG00000198886" } }, "GRch38": { "90": { "location": "MT:10760-12137", "ensembl_id": "ENSG00000198886" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-ND4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "12707444", "16120329", "15576045", "20502985", "27761019", "32445240", "32659360", "3201231" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-ND4-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "sWSS2608", "LCA11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6052", "gene_name": "inosine monophosphate dehydrogenase 1", "omim_gene": [ "146690" ], "alias_name": null, "gene_symbol": "IMPDH1", "hgnc_symbol": "IMPDH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:128032331-128050306", "ensembl_id": "ENSG00000106348" } }, "GRch38": { "90": { "location": "7:128392277-128410252", "ensembl_id": "ENSG00000106348" } } }, "hgnc_date_symbol_changed": "1992-12-08" }, "entity_type": "gene", "entity_name": "IMPDH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16384941" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green" ], "phenotypes": [ "Retinitis pigmentosa 10, 180105", "Leber Congenital Amaurosis", "Leber congenital amaurosis 11" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": "0.245", "version_created": "2026-03-28T13:33:23.781842+11:00", "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": null }, { "gene_data": { "alias": [ "DDX2B", "EIF4A", "BM-010" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3284", "gene_name": "eukaryotic translation initiation factor 4A2", "omim_gene": [ "601102" ], "alias_name": null, "gene_symbol": "EIF4A2", "hgnc_symbol": "EIF4A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:186500994-186507689", "ensembl_id": "ENSG00000156976" } }, "GRch38": { "90": { "location": "3:186783205-186789900", "ensembl_id": "ENSG00000156976" } } }, "hgnc_date_symbol_changed": "1995-05-10" }, "entity_type": "gene", "entity_name": "EIF4A2", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "37485550" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MIM# 620455" ], "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": [ "EIF2Bgamma", "EIF-2B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3259", "gene_name": "eukaryotic translation initiation factor 2B subunit gamma", "omim_gene": [ "606273" ], "alias_name": null, "gene_symbol": "EIF2B3", "hgnc_symbol": "EIF2B3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:45316450-45452282", "ensembl_id": "ENSG00000070785" } }, "GRch38": { "90": { "location": "1:44850522-44986722", "ensembl_id": "ENSG00000070785" } } }, "hgnc_date_symbol_changed": "1998-10-16" }, "entity_type": "gene", "entity_name": "EIF2B3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Leukoencephalopathy with vanishing white matter, MIM#\t603896" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 298, "hash_id": null, "name": "Leukodystrophy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.", "status": "public", "version": "0.394", "version_created": "2026-04-07T13:49:15.516142+10:00", "relevant_disorders": [ "Leukodystrophy", "HP:0002415; Abnormal cerebral white matter morphology", "HP:0002500; Abnormal CNS myelination", "HP:0011400" ], "stats": { "number_of_genes": 262, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "D12S1889", "NKHC", "MY050" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6323", "gene_name": "kinesin family member 5A", "omim_gene": [ "602821" ], "alias_name": null, "gene_symbol": "KIF5A", "hgnc_symbol": "KIF5A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:57943781-57980415", "ensembl_id": "ENSG00000155980" } }, "GRch38": { "90": { "location": "12:57549998-57586632", "ensembl_id": "ENSG00000155980" } } }, "hgnc_date_symbol_changed": "1998-08-24" }, "entity_type": "gene", "entity_name": "KIF5A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "16489470", "21623771", "15452312", "18853458", "16476820" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Spastic paraplegia 10, autosomal dominant, MIM#\t604187" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 317, "hash_id": null, "name": "Hereditary Spastic Paraplegia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.", "status": "public", "version": "1.149", "version_created": "2026-03-19T11:56:36.708923+11:00", "relevant_disorders": [ "Spasticity", "HP:0001257" ], "stats": { "number_of_genes": 176, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC33302" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28486", "gene_name": "major facilitator superfamily domain containing 8", "omim_gene": [ "611124" ], "alias_name": null, "gene_symbol": "MFSD8", "hgnc_symbol": "MFSD8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:128838960-128887150", "ensembl_id": "ENSG00000164073" } }, "GRch38": { "90": { "location": "4:127917732-127966034", "ensembl_id": "ENSG00000164073" } } }, "hgnc_date_symbol_changed": "2007-02-19" }, "entity_type": "gene", "entity_name": "MFSD8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert list", "Royal Melbourne Hospital", "Expert Review Green" ], "phenotypes": [ "Ceroid lipofuscinosis, neuronal, 7 610951" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 331, "hash_id": null, "name": "Progressive Myoclonic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause progressive myoclonic epilepsies (PME) and neuronal ceroid lipofuscinoses (NCLs). It is maintained by Royal Melbourne Hospital.", "status": "public", "version": "0.28", "version_created": "2025-11-21T09:34:57.163082+11:00", "relevant_disorders": [ "Myoclonic seizure", "HP:0032794" ], "stats": { "number_of_genes": 33, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:32331", "gene_name": "chromosome 1 open reading frame 194", "omim_gene": null, "alias_name": null, "gene_symbol": "C1orf194", "hgnc_symbol": "C1orf194", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:109648573-109656479", "ensembl_id": "ENSG00000179902" } }, "GRch38": { "90": { "location": "1:109105951-109113857", "ensembl_id": "ENSG00000179902" } } }, "hgnc_date_symbol_changed": "2006-06-30" }, "entity_type": "gene", "entity_name": "C1orf194", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31199454", "32592472" ], "evidence": [ "Literature", "Literature", "Expert Review Amber", "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Charcot-Marie-Tooth disease, intermediate or demyelinating" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "D22S674" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7631", "gene_name": "alpha-N-acetylgalactosaminidase", "omim_gene": [ "104170" ], "alias_name": null, "gene_symbol": "NAGA", "hgnc_symbol": "NAGA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:42454358-42466846", "ensembl_id": "ENSG00000198951" } }, "GRch38": { "90": { "location": "22:42058354-42070842", "ensembl_id": "ENSG00000198951" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "NAGA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "Kanzaki disease, MIM#609242" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ14888", "HSPC264" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25928", "gene_name": "WD repeat domain 73", "omim_gene": [ "616144" ], "alias_name": null, "gene_symbol": "WDR73", "hgnc_symbol": "WDR73", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:85185999-85197574", "ensembl_id": "ENSG00000177082" } }, "GRch38": { "90": { "location": "15:84639281-84654343", "ensembl_id": "ENSG00000177082" } } }, "hgnc_date_symbol_changed": "2005-05-26" }, "entity_type": "gene", "entity_name": "WDR73", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Galloway-Mowat syndrome, 251300 (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:3974", "gene_name": "formimidoyltransferase cyclodeaminase", "omim_gene": [ "606806" ], "alias_name": null, "gene_symbol": "FTCD", "hgnc_symbol": "FTCD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:47556176-47575481", "ensembl_id": "ENSG00000160282" } }, "GRch38": { "90": { "location": "21:46136262-46155567", "ensembl_id": "ENSG00000160282" } } }, "hgnc_date_symbol_changed": "1999-07-23" }, "entity_type": "gene", "entity_name": "FTCD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Glutamate formiminotransferase deficiency, 229100 (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": [ "PACT", "RAX", "HSD14", "DYT16" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9438", "gene_name": "protein activator of interferon induced protein kinase EIF2AK2", "omim_gene": [ "603424" ], "alias_name": [ "protein activator of the interferon-induced protein kinase" ], "gene_symbol": "PRKRA", "hgnc_symbol": "PRKRA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:179296141-179316239", "ensembl_id": "ENSG00000180228" } }, "GRch38": { "90": { "location": "2:178431414-178451512", "ensembl_id": "ENSG00000180228" } } }, "hgnc_date_symbol_changed": "1999-12-07" }, "entity_type": "gene", "entity_name": "PRKRA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29279192", "25142429" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Dystonia 16, MIM#612067" ], "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": [ "CDGS", "CDG1a", "PMI", "PMI1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9115", "gene_name": "phosphomannomutase 2", "omim_gene": [ "601785" ], "alias_name": [ "phosphomannose isomerase 1", "mannose-6-phosphate isomerase" ], "gene_symbol": "PMM2", "hgnc_symbol": "PMM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:8882680-8943188", "ensembl_id": "ENSG00000140650" } }, "GRch38": { "90": { "location": "16:8788823-8849331", "ensembl_id": "ENSG00000140650" } } }, "hgnc_date_symbol_changed": "1997-05-22" }, "entity_type": "gene", "entity_name": "PMM2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301289, 31902100, 25497157, 33583911" ], "evidence": [ "Expert List", "Expert Review Green" ], "phenotypes": [ "Primary ovarian failure, MONDO:0005387", "Congenital disorder of glycosylation, type Ia 212065" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3166, "hash_id": null, "name": "Primary Ovarian Insufficiency_Premature Ovarian Failure", "disease_group": "Endocrine disorders", "disease_sub_group": "Gonadal and sex development disorders", "description": "This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.", "status": "public", "version": "0.410", "version_created": "2026-04-06T10:52:55.877866+10:00", "relevant_disorders": [ "Premature ovarian insufficiency", "HP:0008209" ], "stats": { "number_of_genes": 164, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ALP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20767", "gene_name": "PDZ and LIM domain 3", "omim_gene": [ "605889" ], "alias_name": null, "gene_symbol": "PDLIM3", "hgnc_symbol": "PDLIM3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:186422851-186456766", "ensembl_id": "ENSG00000154553" } }, "GRch38": { "90": { "location": "4:185500660-185535612", "ensembl_id": "ENSG00000154553" } } }, "hgnc_date_symbol_changed": "2004-02-06" }, "entity_type": "gene", "entity_name": "PDLIM3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25163546", "30681346", "26455666", "20801532" ], "evidence": [ "Expert Review Red", "Literature", "South West GLH", "NHS GMS" ], "phenotypes": [ "Hypertrophic cardiomyopathy" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3270, "hash_id": null, "name": "Cardiomyopathy_Paediatric", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.", "status": "public", "version": "0.229", "version_created": "2026-03-31T18:53:53.165018+11:00", "relevant_disorders": [ "Cardiomyopathy", "HP:0001638;Abnormality of the myocardium", "HP:0001637" ], "stats": { "number_of_genes": 252, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:27424", "gene_name": "RNA binding motif protein 20", "omim_gene": [ "613171" ], "alias_name": null, "gene_symbol": "RBM20", "hgnc_symbol": "RBM20", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:112404155-112599227", "ensembl_id": "ENSG00000203867" } }, "GRch38": { "90": { "location": "10:110644397-110839469", "ensembl_id": "ENSG00000203867" } } }, "hgnc_date_symbol_changed": "2004-04-07" }, "entity_type": "gene", "entity_name": "RBM20", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "BabySeq Category B gene" ], "phenotypes": [ "Cardiomyopathy, dilated, 1DD" ], "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": [ "KIAA0089" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28956", "gene_name": "glycerol-3-phosphate dehydrogenase 1 like", "omim_gene": [ "611778" ], "alias_name": null, "gene_symbol": "GPD1L", "hgnc_symbol": "GPD1L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:32147181-32210205", "ensembl_id": "ENSG00000152642" } }, "GRch38": { "90": { "location": "3:32105689-32168713", "ensembl_id": "ENSG00000152642" } } }, "hgnc_date_symbol_changed": "2004-07-29" }, "entity_type": "gene", "entity_name": "GPD1L", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "BabySeq Category B gene" ], "phenotypes": [ "Brugada syndrome" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2217", "gene_name": "collagen type IX alpha 1 chain", "omim_gene": [ "120210" ], "alias_name": null, "gene_symbol": "COL9A1", "hgnc_symbol": "COL9A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:70924764-71012786", "ensembl_id": "ENSG00000112280" } }, "GRch38": { "90": { "location": "6:70215061-70303083", "ensembl_id": "ENSG00000112280" } } }, "hgnc_date_symbol_changed": "1989-05-08" }, "entity_type": "gene", "entity_name": "COL9A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "BabySeq Category C gene" ], "phenotypes": [ "Stickler syndrome, type IV, MIM#614134" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:329", "gene_name": "agrin", "omim_gene": [ "103320" ], "alias_name": null, "gene_symbol": "AGRN", "hgnc_symbol": "AGRN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:955503-991496", "ensembl_id": "ENSG00000188157" } }, "GRch38": { "90": { "location": "1:1020123-1056118", "ensembl_id": "ENSG00000188157" } } }, "hgnc_date_symbol_changed": "2007-02-16" }, "entity_type": "gene", "entity_name": "AGRN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Myasthenia, limb-girdle, familial" ], "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": [ "AIF", "CMTX4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8768", "gene_name": "apoptosis inducing factor mitochondria associated 1", "omim_gene": [ "300169" ], "alias_name": null, "gene_symbol": "AIFM1", "hgnc_symbol": "AIFM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:129263337-129299861", "ensembl_id": "ENSG00000156709" } }, "GRch38": { "90": { "location": "X:130129362-130165887", "ensembl_id": "ENSG00000156709" } } }, "hgnc_date_symbol_changed": "2006-11-16" }, "entity_type": "gene", "entity_name": "AIFM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Cowchock syndrome" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0609" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6511", "gene_name": "LARGE xylosyl- and glucuronyltransferase 1", "omim_gene": [ "603590" ], "alias_name": [ "like-acetylglucosaminyltransferase" ], "gene_symbol": "LARGE1", "hgnc_symbol": "LARGE1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:33558212-34318829", "ensembl_id": "ENSG00000133424" } }, "GRch38": { "90": { "location": "22:33162226-33922841", "ensembl_id": "ENSG00000133424" } } }, "hgnc_date_symbol_changed": "2016-05-31" }, "entity_type": "gene", "entity_name": "LARGE1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Walker-Warburg 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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8896", "gene_name": "phosphoglycerate kinase 1", "omim_gene": [ "311800" ], "alias_name": null, "gene_symbol": "PGK1", "hgnc_symbol": "PGK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:77320685-77384793", "ensembl_id": "ENSG00000102144" } }, "GRch38": { "90": { "location": "X:78065188-78129296", "ensembl_id": "ENSG00000102144" } } }, "hgnc_date_symbol_changed": "1989-04-24" }, "entity_type": "gene", "entity_name": "PGK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16740138", "6412025", "28580215", "20151463" ], "evidence": [ "Expert Review Green", "London South GLH", "NHS GMS" ], "phenotypes": [ "Phosphoglycerate kinase 1 deficiency MIM# 300653" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3366, "hash_id": null, "name": "Red cell disorders", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.", "status": "public", "version": "1.52", "version_created": "2026-03-28T15:18:36.006857+11:00", "relevant_disorders": [ "Abnormal erythrocyte morphology", "HP:0001877" ], "stats": { "number_of_genes": 116, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CDA-I", "CDAI" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1713", "gene_name": "codanin 1", "omim_gene": [ "607465" ], "alias_name": null, "gene_symbol": "CDAN1", "hgnc_symbol": "CDAN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:43015757-43029324", "ensembl_id": "ENSG00000140326" } }, "GRch38": { "90": { "location": "15:42723559-42737126", "ensembl_id": "ENSG00000140326" } } }, "hgnc_date_symbol_changed": "1998-04-07" }, "entity_type": "gene", "entity_name": "CDAN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16098079", "12434312", "32518175" ], "evidence": [ "Expert Review Green", "Yorkshire and North East GLH", "NHS GMS", "Wessex and West Midlands GLH", "North West GLH", "London South GLH", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Dyserythropoietic anaemia, congenital, type Ia, 224120" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3366, "hash_id": null, "name": "Red cell disorders", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.", "status": "public", "version": "1.52", "version_created": "2026-03-28T15:18:36.006857+11:00", "relevant_disorders": [ "Abnormal erythrocyte morphology", "HP:0001877" ], "stats": { "number_of_genes": 116, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:10887", "gene_name": "SIX homeobox 1", "omim_gene": [ "601205" ], "alias_name": null, "gene_symbol": "SIX1", "hgnc_symbol": "SIX1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:61110133-61124977", "ensembl_id": "ENSG00000126778" } }, "GRch38": { "90": { "location": "14:60643415-60658259", "ensembl_id": "ENSG00000126778" } } }, "hgnc_date_symbol_changed": "1995-09-29" }, "entity_type": "gene", "entity_name": "SIX1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green" ], "phenotypes": [ "BOS3", "BRANCHIOOTIC SYNDROME 3" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "UMPH1", "PSN1", "PN-I", "UMPH", "P5'N-1", "cN-III", "p36", "POMP", "hUMP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17820", "gene_name": "5'-nucleotidase, cytosolic IIIA", "omim_gene": [ "606224" ], "alias_name": [ "lupin" ], "gene_symbol": "NT5C3A", "hgnc_symbol": "NT5C3A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:33053742-33102409", "ensembl_id": "ENSG00000122643" } }, "GRch38": { "90": { "location": "7:33014114-33062797", "ensembl_id": "ENSG00000122643" } } }, "hgnc_date_symbol_changed": "2013-03-06" }, "entity_type": "gene", "entity_name": "NT5C3A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "11369620", "11369620" ], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "Anemia, hemolytic, due to UMPH1 deficiency MIM#266120", "disorder of pyrimidine metabolism" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3468, "hash_id": null, "name": "Miscellaneous Metabolic Disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.60", "version_created": "2026-01-15T15:39:27.439934+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 149, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GCS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4311", "gene_name": "glutamate-cysteine ligase catalytic subunit", "omim_gene": [ "606857" ], "alias_name": null, "gene_symbol": "GCLC", "hgnc_symbol": "GCLC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:53362139-53481768", "ensembl_id": "ENSG00000001084" } }, "GRch38": { "90": { "location": "6:53497341-53616970", "ensembl_id": "ENSG00000001084" } } }, "hgnc_date_symbol_changed": "1993-11-24" }, "entity_type": "gene", "entity_name": "GCLC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27604308", "10515893", "18024385", "11118286", "10733484", "12663448" ], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency MIM#230450", "Disorders of the gamma-glutamyl cycle" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3468, "hash_id": null, "name": "Miscellaneous Metabolic Disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.60", "version_created": "2026-01-15T15:39:27.439934+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 149, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "hCTR1", "CTR1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11016", "gene_name": "solute carrier family 31 member 1", "omim_gene": [ "603085" ], "alias_name": null, "gene_symbol": "SLC31A1", "hgnc_symbol": "SLC31A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:115983808-116028674", "ensembl_id": "ENSG00000136868" } }, "GRch38": { "90": { "location": "9:113221562-113264492", "ensembl_id": "ENSG00000136868" } } }, "hgnc_date_symbol_changed": "1997-10-16" }, "entity_type": "gene", "entity_name": "SLC31A1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 35913762", "36562171" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Neurodegeneration and seizures due to copper transport defect, MIM# 620306" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "fumarase" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3700", "gene_name": "fumarate hydratase", "omim_gene": [ "136850" ], "alias_name": null, "gene_symbol": "FH", "hgnc_symbol": "FH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:241660903-241683061", "ensembl_id": "ENSG00000091483" } }, "GRch38": { "90": { "location": "1:241497603-241519761", "ensembl_id": "ENSG00000091483" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "FH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23137060" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Expert list" ], "phenotypes": [ "Fumarase deficiency, MIM# 606812" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0266", "CDG1P" ], "biotype": "protein_coding", "hgnc_id": "HGNC:32456", "gene_name": "ALG11, alpha-1,2-mannosyltransferase", "omim_gene": [ "613666" ], "alias_name": [ "GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase" ], "gene_symbol": "ALG11", "hgnc_symbol": "ALG11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:52586534-52603800", "ensembl_id": "ENSG00000253710" } }, "GRch38": { "90": { "location": "13:52012398-52029664", "ensembl_id": "ENSG00000253710" } } }, "hgnc_date_symbol_changed": "2006-03-24" }, "entity_type": "gene", "entity_name": "ALG11", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Congenital disorder of glycosylation, type Ip, MIM# 613661" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "UBOX1", "CHIP", "SDCCAG7", "HSPABP2", "NY-CO-7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11427", "gene_name": "STIP1 homology and U-box containing protein 1", "omim_gene": [ "607207" ], "alias_name": null, "gene_symbol": "STUB1", "hgnc_symbol": "STUB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:730224-732870", "ensembl_id": "ENSG00000103266" } }, "GRch38": { "90": { "location": "16:680224-682870", "ensembl_id": "ENSG00000103266" } } }, "hgnc_date_symbol_changed": "1999-11-25" }, "entity_type": "gene", "entity_name": "STUB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24113144", "24742043" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Spinocerebellar ataxia, autosomal recessive 16 MIM#615768" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SREC-II", "SREC2", "HUMZD58C02" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19869", "gene_name": "scavenger receptor class F member 2", "omim_gene": [ "613619" ], "alias_name": null, "gene_symbol": "SCARF2", "hgnc_symbol": "SCARF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:20778874-20792146", "ensembl_id": "ENSG00000244486" } }, "GRch38": { "90": { "location": "22:20424815-20437826", "ensembl_id": "ENSG00000244486" } } }, "hgnc_date_symbol_changed": "2003-02-13" }, "entity_type": "gene", "entity_name": "SCARF2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23808541", "33783941", "19449421", "35256560", "1609830" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Van den Ende-Gupta syndrome, MIM#600920" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RP55" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13210", "gene_name": "ADP ribosylation factor like GTPase 6", "omim_gene": [ "608845" ], "alias_name": null, "gene_symbol": "ARL6", "hgnc_symbol": "ARL6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:97483365-97519953", "ensembl_id": "ENSG00000113966" } }, "GRch38": { "90": { "location": "3:97764521-97801242", "ensembl_id": "ENSG00000113966" } } }, "hgnc_date_symbol_changed": "2004-08-18" }, "entity_type": "gene", "entity_name": "ARL6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15258860", "32361989", "31888296", "25402481", "31736247", "19858128" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Bardet-Biedl syndrome 3, MIM# 600151" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FMF", "TRIM20" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6998", "gene_name": "MEFV, pyrin innate immunity regulator", "omim_gene": [ "608107" ], "alias_name": [ "marenostrin" ], "gene_symbol": "MEFV", "hgnc_symbol": "MEFV", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:3292028-3306627", "ensembl_id": "ENSG00000103313" } }, "GRch38": { "90": { "location": "16:3242028-3256627", "ensembl_id": "ENSG00000103313" } } }, "hgnc_date_symbol_changed": "1989-10-30" }, "entity_type": "gene", "entity_name": "MEFV", "confidence_level": "1", "penetrance": "Incomplete", "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Familial Mediterranean fever, AR (MIM#249100)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CRP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1836", "gene_name": "CCAAT/enhancer binding protein epsilon", "omim_gene": [ "600749" ], "alias_name": null, "gene_symbol": "CEBPE", "hgnc_symbol": "CEBPE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:23586513-23588825", "ensembl_id": "ENSG00000092067" } }, "GRch38": { "90": { "location": "14:23117304-23119616", "ensembl_id": "ENSG00000092067" } } }, "hgnc_date_symbol_changed": "1992-06-24" }, "entity_type": "gene", "entity_name": "CEBPE", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Specific granule deficiency, MIM# 245480" ], "mode_of_inheritance": "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": [] }, { "gene_data": { "alias": [ "ttv" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3512", "gene_name": "exostosin glycosyltransferase 1", "omim_gene": [ "608177" ], "alias_name": [ "Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase" ], "gene_symbol": "EXT1", "hgnc_symbol": "EXT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:118806729-119124092", "ensembl_id": "ENSG00000182197" } }, "GRch38": { "90": { "location": "8:117794490-118111853", "ensembl_id": "ENSG00000182197" } } }, "hgnc_date_symbol_changed": "1993-05-04" }, "entity_type": "gene", "entity_name": "EXT1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Exostoses, multiple, type 1, MIM# 133700" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PCLN1", "HOMG3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2037", "gene_name": "claudin 16", "omim_gene": [ "603959" ], "alias_name": [ "paracellin-1", "hypomagnesemia 3, with hypercalciuria and nephrocalcinosis" ], "gene_symbol": "CLDN16", "hgnc_symbol": "CLDN16", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:190040330-190129932", "ensembl_id": "ENSG00000113946" } }, "GRch38": { "90": { "location": "3:190322541-190412143", "ensembl_id": "ENSG00000113946" } } }, "hgnc_date_symbol_changed": "2000-01-07" }, "entity_type": "gene", "entity_name": "CLDN16", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16501001", "32869508", "10878661", "26426912" ], "evidence": [ "Expert Review Green", "KidGen_Magnesium v38.1.0" ], "phenotypes": [ "amelogenesis imperfecta MONDO#0019507, CLDN16-related", "Hypomagnesemia 3, renal MIM#248250" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3993, "hash_id": null, "name": "Renal Tubulopathies and related disorders", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.", "status": "public", "version": "1.26", "version_created": "2026-03-30T10:01:51.458813+11:00", "relevant_disorders": [ "Renal tubular dysfunction", "HP:0000124; Nephrolithiasis", "HP:0000787; Abnormal circulating aldosterone", "HP:0040085" ], "stats": { "number_of_genes": 134, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ENaCgamma", "SCNEG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10602", "gene_name": "sodium channel epithelial 1 gamma subunit", "omim_gene": [ "600761" ], "alias_name": null, "gene_symbol": "SCNN1G", "hgnc_symbol": "SCNN1G", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:23194036-23228204", "ensembl_id": "ENSG00000166828" } }, "GRch38": { "90": { "location": "16:23182715-23216883", "ensembl_id": "ENSG00000166828" } } }, "hgnc_date_symbol_changed": "1995-05-10" }, "entity_type": "gene", "entity_name": "SCNN1G", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22207244", "31655555", "28484659", "30801930" ], "evidence": [ "Expert Review Green", "KidGen_AldoHypertension v38.1.0", "Expert Review Green", "KidGen_AldoHypertension v38.1.0" ], "phenotypes": [ "Pseudohypoaldosteronism, type I, MIM# 264350", "Liddle syndrome 2, MIM# 618114" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3993, "hash_id": null, "name": "Renal Tubulopathies and related disorders", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.", "status": "public", "version": "1.26", "version_created": "2026-03-30T10:01:51.458813+11:00", "relevant_disorders": [ "Renal tubular dysfunction", "HP:0000124; Nephrolithiasis", "HP:0000787; Abnormal circulating aldosterone", "HP:0040085" ], "stats": { "number_of_genes": 134, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CPAP", "BM032", "LAP", "LIP1", "Sas-4", "SASS4", "SCKL4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17272", "gene_name": "centromere protein J", "omim_gene": [ "609279" ], "alias_name": [ "centrosomal P4.1-associated protein" ], "gene_symbol": "CENPJ", "hgnc_symbol": "CENPJ", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:25457171-25497018", "ensembl_id": "ENSG00000151849" } }, "GRch38": { "90": { "location": "13:24882284-24922889", "ensembl_id": "ENSG00000151849" } } }, "hgnc_date_symbol_changed": "2002-02-15" }, "entity_type": "gene", "entity_name": "CENPJ", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "36334884" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Microcephaly 6, primary MIM#608393", "Seckel syndrome 4 MIM#613676" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4225, "hash_id": null, "name": "Prepair 500+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.0", "version_created": "2025-05-30T02:52:12.758302+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 629, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:14938", "gene_name": "phosphatidylinositol glycan anchor biosynthesis class T", "omim_gene": [ "610272" ], "alias_name": [ "GPI transamidase subunit" ], "gene_symbol": "PIGT", "hgnc_symbol": "PIGT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:44044717-44054884", "ensembl_id": "ENSG00000124155" } }, "GRch38": { "90": { "location": "20:45416067-45456934", "ensembl_id": "ENSG00000124155" } } }, "hgnc_date_symbol_changed": "2001-03-27" }, "entity_type": "gene", "entity_name": "PIGT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30976099", "25943031", "24906948", "24906948", "24906948", "28728837", "28728837", "28728837" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4225, "hash_id": null, "name": "Prepair 500+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.0", "version_created": "2025-05-30T02:52:12.758302+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 629, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CRALBP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10024", "gene_name": "retinaldehyde binding protein 1", "omim_gene": [ "180090" ], "alias_name": null, "gene_symbol": "RLBP1", "hgnc_symbol": "RLBP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:89753100-89764982", "ensembl_id": "ENSG00000140522" } }, "GRch38": { "90": { "location": "15:89209869-89221751", "ensembl_id": "ENSG00000140522" } } }, "hgnc_date_symbol_changed": "1991-05-15" }, "entity_type": "gene", "entity_name": "RLBP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9326942" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "Other disorders of vitamin metabolism", "RLBP1-related retinopathy MONDO:0100444" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4257, "hash_id": null, "name": "Vitamin metabolism disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "The gene panel contains genes that cause inborn errors of vitamin metabolism.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.7", "version_created": "2024-09-18T09:35:00.495806+10:00", "relevant_disorders": [ "Abnormality of vitamin metabolism", "HP:0100508" ], "stats": { "number_of_genes": 62, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HNPCC", "HNPCC1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7325", "gene_name": "mutS homolog 2", "omim_gene": [ "609309" ], "alias_name": null, "gene_symbol": "MSH2", "hgnc_symbol": "MSH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:47630108-47789450", "ensembl_id": "ENSG00000095002" } }, "GRch38": { "90": { "location": "2:47402969-47562311", "ensembl_id": "ENSG00000095002" } } }, "hgnc_date_symbol_changed": "1993-07-28" }, "entity_type": "gene", "entity_name": "MSH2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Malignant pancreatic neoplasm, MONDO:0009831", "Lynch syndrome 1, MONDO:0007356", "Mismatch repair cancer syndrome 2, MONDO:0030840", "Lynch syndrome 1, MIM#120435", "Mismatch repair cancer syndrome 2, MIM#619096" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4370, "hash_id": null, "name": "Pancreatic Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with pancreatic cancer. \r\n\r\nFurther information on the testing criteria for pancreatic cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3906-pancreatic-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with pancreatic cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:32:06.575750+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 12, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "H_DJ0042M02.9", "HNPCC4", "MLH4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9122", "gene_name": "PMS1 homolog 2, mismatch repair system component", "omim_gene": [ "600259" ], "alias_name": null, "gene_symbol": "PMS2", "hgnc_symbol": "PMS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:6012870-6048756", "ensembl_id": "ENSG00000122512" } }, "GRch38": { "90": { "location": "7:5973239-6009125", "ensembl_id": "ENSG00000122512" } } }, "hgnc_date_symbol_changed": "1994-12-13" }, "entity_type": "gene", "entity_name": "PMS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Prostate cancer, MONDO:0008315", "Lynch syndrome 4, MONDO:0013699", "Mismatch repair cancer syndrome 4, MONDO:0030843", "Lynch syndrome 4, MIM#614337", "Mismatch repair cancer syndrome 4, MIM#619101" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4372, "hash_id": null, "name": "Prostate Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with prostate cancer. \r\n\r\nFurther information on the testing criteria for prostate cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3648-prostate-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with prostate cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:34:57.086516+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 12, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GTT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18063", "gene_name": "StAR related lipid transfer domain containing 7", "omim_gene": [ "616712" ], "alias_name": null, "gene_symbol": "STARD7", "hgnc_symbol": "STARD7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:96850597-96874563", "ensembl_id": "ENSG00000084090" } }, "GRch38": { "90": { "location": "2:96184859-96208825", "ensembl_id": "ENSG00000084090" } } }, "hgnc_date_symbol_changed": "2002-01-24" }, "entity_type": "str", "entity_name": "STARD7_FAME2_ATTTC", "confidence_level": "3", "penetrance": null, "publications": [ "11701600", "24114805", "31664034" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Epilepsy, familial adult myoclonic, 2 MIM#607876" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "ATTTC", "chromosome": "2", "grch37_coordinates": [ 96862805, 96862859 ], "grch38_coordinates": [ 96197067, 96197121 ], "normal_repeats": 0, "pathogenic_repeats": 661, "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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] } } ] }