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GET /api/v1/entities/?format=api&page=246
{ "count": 36040, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=247", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=245", "results": [ { "gene_data": { "alias": [ "KIAA0733" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17075", "gene_name": "TGF-beta activated kinase 1/MAP3K7 binding protein 2", "omim_gene": [ "605101" ], "alias_name": null, "gene_symbol": "TAB2", "hgnc_symbol": "TAB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:149539777-149732749", "ensembl_id": "ENSG00000055208" } }, "GRch38": { "90": { "location": "6:149218641-149411613", "ensembl_id": "ENSG00000055208" } } }, "hgnc_date_symbol_changed": "2010-02-05" }, "entity_type": "gene", "entity_name": "TAB2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34456334", "36000780" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like", "Congenital heart defects, nonsyndromic, 2 (MIM#614980)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 28, "hash_id": null, "name": "Skeletal Dysplasia_Fetal", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.", "status": "public", "version": "0.246", "version_created": "2026-03-02T10:22:48.751874+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 157, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6482", "gene_name": "laminin subunit alpha 2", "omim_gene": [ "156225" ], "alias_name": [ "merosin", "congenital muscular dystrophy" ], "gene_symbol": "LAMA2", "hgnc_symbol": "LAMA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:129204342-129837714", "ensembl_id": "ENSG00000196569" } }, "GRch38": { "90": { "location": "6:128883141-129516569", "ensembl_id": "ENSG00000196569" } } }, "hgnc_date_symbol_changed": "1992-05-06" }, "entity_type": "gene", "entity_name": "LAMA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30055037" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855", "Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138" ], "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": [ "DENN", "KIAA0358", "RAB3GEP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6766", "gene_name": "MAP kinase activating death domain", "omim_gene": [ "603584" ], "alias_name": null, "gene_symbol": "MADD", "hgnc_symbol": "MADD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:47290712-47351582", "ensembl_id": "ENSG00000110514" } }, "GRch38": { "90": { "location": "11:47269161-47330031", "ensembl_id": "ENSG00000110514" } } }, "hgnc_date_symbol_changed": "1999-12-17" }, "entity_type": "gene", "entity_name": "MADD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33723354" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "DEEAH syndrome, MIM#\t619004" ], "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": [ "CALDAG-GEFI" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9879", "gene_name": "RAS guanyl releasing protein 2", "omim_gene": [ "605577" ], "alias_name": [ "calcium- and diacylglycerol-regulated guanine nucleotide exchange factor I" ], "gene_symbol": "RASGRP2", "hgnc_symbol": "RASGRP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:64494383-64512928", "ensembl_id": "ENSG00000068831" } }, "GRch38": { "90": { "location": "11:64726911-64745456", "ensembl_id": "ENSG00000068831" } } }, "hgnc_date_symbol_changed": "1999-07-21" }, "entity_type": "gene", "entity_name": "RASGRP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24958846", "32609603", "32041177", "31724816", "30849270" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Bleeding disorder, platelet-type, 18, MIM#\t615888" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 54, "hash_id": null, "name": "Bleeding and Platelet Disorders", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with coagulation, platelet and blood vessel disorders that predispose to bleeding and to thrombosis.", "status": "public", "version": "1.77", "version_created": "2026-04-08T12:32:35.286494+10:00", "relevant_disorders": [ "Abnormal bleeding", "HP:0001892;Abnormal thrombosis", "HP:0001977" ], "stats": { "number_of_genes": 140, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "K-REV", "RAL1B", "DKFZp586H0723" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9857", "gene_name": "RAP1B, member of RAS oncogene family", "omim_gene": [ "179530" ], "alias_name": null, "gene_symbol": "RAP1B", "hgnc_symbol": "RAP1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:69004619-69054372", "ensembl_id": "ENSG00000127314" } }, "GRch38": { "90": { "location": "12:68610839-68671901", "ensembl_id": "ENSG00000127314" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "RAP1B", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35451551", "32627184", "26280580" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654" ], "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": [] }, { "gene_data": { "alias": [ "GRP75", "PBP74", "mot-2", "mthsp75" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5244", "gene_name": "heat shock protein family A (Hsp70) member 9", "omim_gene": [ "600548" ], "alias_name": [ "mortalin2", "mortalin" ], "gene_symbol": "HSPA9", "hgnc_symbol": "HSPA9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:137890571-137911133", "ensembl_id": "ENSG00000113013" } }, "GRch38": { "90": { "location": "5:138554882-138575444", "ensembl_id": "ENSG00000113013" } } }, "hgnc_date_symbol_changed": "2006-10-31" }, "entity_type": "gene", "entity_name": "HSPA9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26598328", "32869452" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Even-plus syndrome, MIM#\t616854", "skeletal anomalies", "congenital cardiac and renal anomalies: marked small nose" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 63, "hash_id": null, "name": "Congenital anomalies of the kidney and urinary tract (CAKUT)", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel contains genes associated with nonsyndromic and syndromic congenital anomalies of the kidney and urinary tract (CAKUT).", "status": "public", "version": "0.207", "version_created": "2026-04-15T16:43:07.852176+10:00", "relevant_disorders": [ "Abnormality of the urinary system HP:0000079" ], "stats": { "number_of_genes": 124, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "hEPG5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29331", "gene_name": "ectopic P-granules autophagy protein 5 homolog", "omim_gene": [ "615068" ], "alias_name": null, "gene_symbol": "EPG5", "hgnc_symbol": "EPG5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:43427574-43547240", "ensembl_id": "ENSG00000152223" } }, "GRch38": { "90": { "location": "18:45847609-45967274", "ensembl_id": "ENSG00000152223" } } }, "hgnc_date_symbol_changed": "2011-03-02" }, "entity_type": "gene", "entity_name": "EPG5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23222957", "26917586" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Vici syndrome, MIM# 242840" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 66, "hash_id": null, "name": "Cataract", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.", "status": "public", "version": "1.3", "version_created": "2026-03-31T18:43:23.306556+11:00", "relevant_disorders": [ "Cataract", "HP:0000518" ], "stats": { "number_of_genes": 258, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:28983", "gene_name": "transmembrane protein 94", "omim_gene": null, "alias_name": null, "gene_symbol": "TMEM94", "hgnc_symbol": "TMEM94", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:73437240-73496171", "ensembl_id": "ENSG00000177728" } }, "GRch38": { "90": { "location": "17:75441159-75500090", "ensembl_id": "ENSG00000177728" } } }, "hgnc_date_symbol_changed": "2015-10-07" }, "entity_type": "gene", "entity_name": "TMEM94", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "Intellectual developmental disorder with cardiac defects and dysmorphic facies" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "30526868" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 76, "hash_id": null, "name": "Congenital Heart Defect", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.", "status": "public", "version": "0.534", "version_created": "2026-03-30T13:14:35.719896+11:00", "relevant_disorders": [ "Abnormal heart morphology HP:0001627" ], "stats": { "number_of_genes": 253, "number_of_strs": 1, "number_of_regions": 10 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1345", "MKS6", "JBTS9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29253", "gene_name": "coiled-coil and C2 domain containing 2A", "omim_gene": [ "612013" ], "alias_name": [ "Meckel syndrome, type 6" ], "gene_symbol": "CC2D2A", "hgnc_symbol": "CC2D2A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:15471489-15603180", "ensembl_id": "ENSG00000048342" } }, "GRch38": { "90": { "location": "4:15469865-15601557", "ensembl_id": "ENSG00000048342" } } }, "hgnc_date_symbol_changed": "2007-10-19" }, "entity_type": "gene", "entity_name": "CC2D2A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22241855", "27081510" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "COACH syndrome 2, MIM# 619111", "Joubert syndrome 9, 612285", "Meckel syndrome 6, 612284" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 84, "hash_id": null, "name": "Ciliopathies", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.", "status": "public", "version": "1.99", "version_created": "2026-02-26T20:47:06.255758+11:00", "relevant_disorders": [ "Ciliopathy", "MONDO:0005308" ], "stats": { "number_of_genes": 158, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NY-REN-58", "NPHP18" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17966", "gene_name": "centrosomal protein 83", "omim_gene": [ "615847" ], "alias_name": null, "gene_symbol": "CEP83", "hgnc_symbol": "CEP83", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:94700225-94853764", "ensembl_id": "ENSG00000173588" } }, "GRch38": { "90": { "location": "12:94306449-94459988", "ensembl_id": "ENSG00000173588" } } }, "hgnc_date_symbol_changed": "2014-03-06" }, "entity_type": "gene", "entity_name": "CEP83", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24882706", "33938610" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Nephronophthisis 18, MIM# 615862", "MONDO:0014374", "Retinal dystrophy", "ID" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 84, "hash_id": null, "name": "Ciliopathies", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.", "status": "public", "version": "1.99", "version_created": "2026-02-26T20:47:06.255758+11:00", "relevant_disorders": [ "Ciliopathy", "MONDO:0005308" ], "stats": { "number_of_genes": 158, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "nicein-125kDa", "kalinin-140kDa", "BM600-125kDa" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6490", "gene_name": "laminin subunit beta 3", "omim_gene": [ "150310" ], "alias_name": null, "gene_symbol": "LAMB3", "hgnc_symbol": "LAMB3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:209788215-209825811", "ensembl_id": "ENSG00000196878" } }, "GRch38": { "90": { "location": "1:209614870-209652466", "ensembl_id": "ENSG00000196878" } } }, "hgnc_date_symbol_changed": "1993-12-14" }, "entity_type": "gene", "entity_name": "LAMB3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11023379", "7706760" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700", "Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "UNC18B", "Hunc18b" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11445", "gene_name": "syntaxin binding protein 2", "omim_gene": [ "601717" ], "alias_name": null, "gene_symbol": "STXBP2", "hgnc_symbol": "STXBP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:7701767-7712759", "ensembl_id": "ENSG00000076944" } }, "GRch38": { "90": { "location": "19:7636881-7647873", "ensembl_id": "ENSG00000076944" } } }, "hgnc_date_symbol_changed": "1996-12-27" }, "entity_type": "gene", "entity_name": "STXBP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 123, "hash_id": null, "name": "Inflammatory bowel disease", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.126", "version_created": "2025-10-16T15:50:33.114198+11:00", "relevant_disorders": [ "Gastrointestinal inflammation", "HP:0004386" ], "stats": { "number_of_genes": 85, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2481", "gene_name": "cystatin A", "omim_gene": [ "184600" ], "alias_name": [ "stefin A" ], "gene_symbol": "CSTA", "hgnc_symbol": "CSTA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:122044091-122060819", "ensembl_id": "ENSG00000121552" } }, "GRch38": { "90": { "location": "3:122325244-122341972", "ensembl_id": "ENSG00000121552" } } }, "hgnc_date_symbol_changed": "1990-02-06" }, "entity_type": "gene", "entity_name": "CSTA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "21944047", "23534700", "25400170" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Peeling skin syndrome 4 MIM#607936", "exfoliative ichthyosis" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 124, "hash_id": null, "name": "Ichthyosis and Porokeratosis", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and RMH. It contains genes that cause non-syndromic and syndromic ichthyosis and porokeratosis.", "status": "public", "version": "1.25", "version_created": "2026-03-19T12:26:58.874178+11:00", "relevant_disorders": [ "Ichthyosis", "HP:0008064;Porokeratosis", "HP:0200044" ], "stats": { "number_of_genes": 65, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DYT18", "DYT9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11005", "gene_name": "solute carrier family 2 member 1", "omim_gene": [ "138140" ], "alias_name": null, "gene_symbol": "SLC2A1", "hgnc_symbol": "SLC2A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:43391052-43424530", "ensembl_id": "ENSG00000117394" } }, "GRch38": { "90": { "location": "1:42925375-42959173", "ensembl_id": "ENSG00000117394" } } }, "hgnc_date_symbol_changed": "1994-11-18" }, "entity_type": "gene", "entity_name": "SLC2A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18451999", "20129935", "10980529", "20221955", "31196579" ], "evidence": [ "Expert Review Green", "Expert list", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "GLUT1 deficiency syndrome, MONDO:0000188", "GLUT1 deficiency syndrome 1, infantile onset, severe, MIM#606777", "Dystonia 9, MIM#601042", "Stomatin-deficient cryohydrocytosis with neurologic defects, MIM#608885", "GLUT1 deficiency syndrome 2, childhood onset, MIM#612126", "{Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "sytXIV", "FLJ34198" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23143", "gene_name": "synaptotagmin 14", "omim_gene": [ "610949" ], "alias_name": null, "gene_symbol": "SYT14", "hgnc_symbol": "SYT14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:210111538-210337636", "ensembl_id": "ENSG00000143469" } }, "GRch38": { "90": { "location": "1:209938174-210171389", "ensembl_id": "ENSG00000143469" } } }, "hgnc_date_symbol_changed": "2003-09-17" }, "entity_type": "gene", "entity_name": "SYT14", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21835308" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "THES" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23639", "gene_name": "tetratricopeptide repeat domain 37", "omim_gene": [ "614589" ], "alias_name": [ "thespin" ], "gene_symbol": "TTC37", "hgnc_symbol": "TTC37", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:94799599-94890711", "ensembl_id": "ENSG00000198677" } }, "GRch38": { "90": { "location": "5:95463895-95555007", "ensembl_id": "ENSG00000198677" } } }, "hgnc_date_symbol_changed": "2008-06-11" }, "entity_type": "gene", "entity_name": "TTC37", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20176027", "17318842" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Trichohepatoenteric syndrome 1, MIM# 222470" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TUBGCP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12417", "gene_name": "tubulin gamma 1", "omim_gene": [ "191135" ], "alias_name": null, "gene_symbol": "TUBG1", "hgnc_symbol": "TUBG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:40761694-40767252", "ensembl_id": "ENSG00000131462" } }, "GRch38": { "90": { "location": "17:42609676-42615234", "ensembl_id": "ENSG00000131462" } } }, "hgnc_date_symbol_changed": "2000-01-20" }, "entity_type": "gene", "entity_name": "TUBG1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23603762", "31086189" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Strap" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19274", "gene_name": "tetratricopeptide repeat domain 5", "omim_gene": null, "alias_name": null, "gene_symbol": "TTC5", "hgnc_symbol": "TTC5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:20724717-20774153", "ensembl_id": "ENSG00000136319" } }, "GRch38": { "90": { "location": "14:20256558-20305994", "ensembl_id": "ENSG00000136319" } } }, "hgnc_date_symbol_changed": "2003-11-25" }, "entity_type": "gene", "entity_name": "TTC5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29302074", "32439809" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244", "Central hypotonia", "Global developmental delay", "Intellectual disability", "Abnormality of nervous system morphology", "Microcephaly", "Abnormality of the face", "Behavioral abnormality", "Abnormality of the genitourinary system" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ACAD2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6186", "gene_name": "isovaleryl-CoA dehydrogenase", "omim_gene": [ "607036" ], "alias_name": null, "gene_symbol": "IVD", "hgnc_symbol": "IVD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:40697686-40728146", "ensembl_id": "ENSG00000128928" } }, "GRch38": { "90": { "location": "15:40405795-40435947", "ensembl_id": "ENSG00000128928" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "IVD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15486829" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Isovaleric acidaemia, MIM# 243500" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HN", "16S" ], "biotype": "Mt_rRNA", "hgnc_id": "HGNC:7471", "gene_name": "mitochondrially encoded 16S RNA", "omim_gene": [ "561010" ], "alias_name": [ "humanin", "formyl-humanin" ], "gene_symbol": "MT-RNR2", "hgnc_symbol": "MT-RNR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:1671-3229", "ensembl_id": "ENSG00000210082" } }, "GRch38": { "90": { "location": "MT:1671-3229", "ensembl_id": "ENSG00000210082" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-RNR2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29233888", "17761147", "24367055" ], "evidence": [ "Expert Review Red", "Expert Review", "Literature", "Literature", "Expert Review" ], "phenotypes": [ "mitochondrial disease MONDO:0044970, MT-RNR2-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3535", "gene_name": "coagulation factor II, thrombin", "omim_gene": [ "176930" ], "alias_name": [ "prepro-coagulation factor II" ], "gene_symbol": "F2", "hgnc_symbol": "F2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:46740730-46761056", "ensembl_id": "ENSG00000180210" } }, "GRch38": { "90": { "location": "11:46719180-46739506", "ensembl_id": "ENSG00000180210" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "F2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30297698", "7740448", "9863703", "19598065" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "{Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD", "{Stroke, ischemic, susceptibility to} 601367 Mu", "Dysprothrombinemia 613679 AR", "Hypoprothrombinemia 613679 AR", "Thrombophilia due to thrombin defect 188050 AD" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [ "UTR" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZP727M231", "DKFZp586C1223", "dJ756N5.2", "TRRP4AP", "PPP1R158" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16181", "gene_name": "transient receptor potential cation channel subfamily C member 4 associated protein", "omim_gene": [ "608430" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 158" ], "gene_symbol": "TRPC4AP", "hgnc_symbol": "TRPC4AP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:33590207-33680674", "ensembl_id": "ENSG00000100991" } }, "GRch38": { "90": { "location": "20:35002404-35092871", "ensembl_id": "ENSG00000100991" } } }, "hgnc_date_symbol_changed": "2003-10-08" }, "entity_type": "gene", "entity_name": "TRPC4AP", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32428920", "26786105" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Thyroid hypoplasia, MONDO:0019861, TRPC4AP-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NADC3", "SDCT2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14430", "gene_name": "solute carrier family 13 member 3", "omim_gene": [ "606411" ], "alias_name": null, "gene_symbol": "SLC13A3", "hgnc_symbol": "SLC13A3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:45186463-45304714", "ensembl_id": "ENSG00000158296" } }, "GRch38": { "90": { "location": "20:46557823-46684467", "ensembl_id": "ENSG00000158296" } } }, "hgnc_date_symbol_changed": "2001-06-13" }, "entity_type": "gene", "entity_name": "SLC13A3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30635937", "35527102", "https://www.neurology.org/doi/full/10.1212/NXG.0000000000200101 (No PMID)" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:16902", "gene_name": "branched chain ketoacid dehydrogenase kinase", "omim_gene": [ "614901" ], "alias_name": null, "gene_symbol": "BCKDK", "hgnc_symbol": "BCKDK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:31117428-31124110", "ensembl_id": "ENSG00000103507" } }, "GRch38": { "90": { "location": "16:31106107-31112791", "ensembl_id": "ENSG00000103507" } } }, "hgnc_date_symbol_changed": "2005-01-20" }, "entity_type": "gene", "entity_name": "BCKDK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22956686", "24449431" ], "evidence": [ "Expert Review Green", "NHS GMS", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923", "disorder of branched-chain amino acid metabolism" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20644", "G4-1", "G5PR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17485", "gene_name": "protein phosphatase 2 regulatory subunit B''gamma", "omim_gene": [ "615902" ], "alias_name": null, "gene_symbol": "PPP2R3C", "hgnc_symbol": "PPP2R3C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:35554673-35591723", "ensembl_id": "ENSG00000092020" } }, "GRch38": { "90": { "location": "14:35085467-35122517", "ensembl_id": "ENSG00000092020" } } }, "hgnc_date_symbol_changed": "2007-01-22" }, "entity_type": "gene", "entity_name": "PPP2R3C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30893644", "34714774", "34750818" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM # 618419" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ARC92", "ACID1", "TCBAP0758", "DKFZp434K0512" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28845", "gene_name": "mediator complex subunit 25", "omim_gene": [ "610197" ], "alias_name": null, "gene_symbol": "MED25", "hgnc_symbol": "MED25", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:50321539-50342073", "ensembl_id": "ENSG00000104973" } }, "GRch38": { "90": { "location": "19:49818279-49838816", "ensembl_id": "ENSG00000104973" } } }, "hgnc_date_symbol_changed": "2004-11-09" }, "entity_type": "gene", "entity_name": "MED25", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25792360", "32816121" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449", "Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0147", "SCRB1", "Vartul" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30377", "gene_name": "scribbled planar cell polarity protein", "omim_gene": [ "607733" ], "alias_name": null, "gene_symbol": "SCRIB", "hgnc_symbol": "SCRIB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:144873090-144897549", "ensembl_id": "ENSG00000180900" } }, "GRch38": { "90": { "location": "8:143790920-143815379", "ensembl_id": "ENSG00000180900" } } }, "hgnc_date_symbol_changed": "2004-05-21" }, "entity_type": "gene", "entity_name": "SCRIB", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24140112", "23922697" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NCKX1", "NCKX", "RODX", "KIAA0702", "HsT17412", "CSNB1D" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10975", "gene_name": "solute carrier family 24 member 1", "omim_gene": [ "603617" ], "alias_name": null, "gene_symbol": "SLC24A1", "hgnc_symbol": "SLC24A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:65903704-65953333", "ensembl_id": "ENSG00000074621" } }, "GRch38": { "90": { "location": "15:65611366-65660995", "ensembl_id": "ENSG00000074621" } } }, "hgnc_date_symbol_changed": "1999-02-18" }, "entity_type": "gene", "entity_name": "SLC24A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "35486108", "35446361", "20850105", "26822852" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Night blindness, congenital stationary (complete), 1D, autosomal recessive, MIM#613830, MONDO:0013450" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "C2F", "NEP1", "Grcc2f" ], "biotype": null, "hgnc_id": "HGNC:16912", "gene_name": "EMG1, N1-specific pseudouridine methyltransferase", "omim_gene": [ "611531" ], "alias_name": null, "gene_symbol": "EMG1", "hgnc_symbol": "EMG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:7072408-7105520", "ensembl_id": "ENSG00000126749" } }, "GRch38": { "90": { "location": "12:6970893-6979941", "ensembl_id": "ENSG00000126749" } } }, "hgnc_date_symbol_changed": "2006-01-12" }, "entity_type": "gene", "entity_name": "EMG1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "19463982" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Bowen-Conradi syndrome, MIM#211180" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "QIL1", "P117", "MIC13" ], "biotype": "protein_coding", "hgnc_id": "HGNC:33702", "gene_name": "chromosome 19 open reading frame 70", "omim_gene": [ "616658" ], "alias_name": null, "gene_symbol": "C19orf70", "hgnc_symbol": "C19orf70", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:5678432-5680907", "ensembl_id": "ENSG00000174917" } }, "GRch38": { "90": { "location": "19:5678421-5680896", "ensembl_id": "ENSG00000174917" } } }, "hgnc_date_symbol_changed": "2008-08-06" }, "entity_type": "gene", "entity_name": "C19orf70", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29618761", "27623147", "27485409" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 37, MIM#\t618329" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ11838" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25686", "gene_name": "phosphopantothenoylcysteine synthetase", "omim_gene": [ "609853" ], "alias_name": null, "gene_symbol": "PPCS", "hgnc_symbol": "PPCS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:42921788-42939056", "ensembl_id": "ENSG00000127125" } }, "GRch38": { "90": { "location": "1:42456117-42473385", "ensembl_id": "ENSG00000127125" } } }, "hgnc_date_symbol_changed": "2005-07-25" }, "entity_type": "gene", "entity_name": "PPCS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "35616428", "29754768" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cardiomyopathy, dilated, 2C, MIM# 618189" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NARS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7643", "gene_name": "asparaginyl-tRNA synthetase", "omim_gene": [ "108410" ], "alias_name": [ "asparagine tRNA ligase 1, cytoplasmic" ], "gene_symbol": "NARS", "hgnc_symbol": "NARS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:55267888-55289445", "ensembl_id": "ENSG00000134440" } }, "GRch38": { "90": { "location": "18:57600656-57622213", "ensembl_id": "ENSG00000134440" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "NARS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32738225", "38495304", "38769024" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091", "Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092", "Hereditary peripheral neuropathy, MONDO:0020127, NARS-related" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SL15", "Lec35", "PQLC5", "CDGIf" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7207", "gene_name": "mannose-P-dolichol utilization defect 1", "omim_gene": [ "604041" ], "alias_name": null, "gene_symbol": "MPDU1", "hgnc_symbol": "MPDU1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:7486847-7496107", "ensembl_id": "ENSG00000129255" } }, "GRch38": { "90": { "location": "17:7583529-7592789", "ensembl_id": "ENSG00000129255" } } }, "hgnc_date_symbol_changed": "1999-05-25" }, "entity_type": "gene", "entity_name": "MPDU1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "11733564", "11733556", "31741824", "29721919" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Congenital disorder of glycosylation, type If, MIM# 609180", "MPDU1-CDG, MONDO:0012211" ], "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": [] }, { "gene_data": { "alias": [ "KIAA1851" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22932", "gene_name": "GDP-mannose pyrophosphorylase B", "omim_gene": [ "615320" ], "alias_name": [ "mannose-1-phosphate guanyltransferase beta" ], "gene_symbol": "GMPPB", "hgnc_symbol": "GMPPB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:49754277-49761384", "ensembl_id": "ENSG00000173540" } }, "GRch38": { "90": { "location": "3:49716844-49723951", "ensembl_id": "ENSG00000173540" } } }, "hgnc_date_symbol_changed": "2005-01-10" }, "entity_type": "gene", "entity_name": "GMPPB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review", "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "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": [ "KIAA1097", "VDU1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20059", "gene_name": "ubiquitin specific peptidase 33", "omim_gene": [ "615146" ], "alias_name": null, "gene_symbol": "USP33", "hgnc_symbol": "USP33", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:78161672-78225537", "ensembl_id": "ENSG00000077254" } }, "GRch38": { "90": { "location": "1:77695987-77759852", "ensembl_id": "ENSG00000077254" } } }, "hgnc_date_symbol_changed": "2003-09-04" }, "entity_type": "gene", "entity_name": "USP33", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36928819" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Renal hypertension MONDO:0001105" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 190, "hash_id": null, "name": "Hypertension and Aldosterone disorders", "disease_group": "Renal and urinary tract disorders; Endocrine disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hypertension and aldosterone disorders. \r\n\r\nThis panel was created and is maintained by the KidGen Collaborative. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Extreme early-onset hypertension' panel V1.23, with all discrepancies reviewed and resolved (January 2026).", "status": "public", "version": "1.18", "version_created": "2026-01-08T17:00:09.030229+11:00", "relevant_disorders": [ "Hypertension", "HP:0000822; Abnormal circulating aldosterone", "HP:0040085" ], "stats": { "number_of_genes": 24, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "trnG" ], "biotype": "Mt_tRNA", "hgnc_id": "HGNC:7486", "gene_name": "mitochondrially encoded tRNA glycine", "omim_gene": [ "590035" ], "alias_name": null, "gene_symbol": "MT-TG", "hgnc_symbol": "MT-TG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:9991-10058", "ensembl_id": "ENSG00000210164" } }, "GRch38": { "90": { "location": "MT:9991-10058", "ensembl_id": "ENSG00000210164" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-TG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "8079988", "9199564", "11971101", "16120360", "32337339", "35432167", "10090480" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-TG-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "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:3629", "gene_name": "farnesyl-diphosphate farnesyltransferase 1", "omim_gene": [ "184420" ], "alias_name": [ "squalene synthase" ], "gene_symbol": "FDFT1", "hgnc_symbol": "FDFT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:11653082-11696818", "ensembl_id": "ENSG00000079459" } }, "GRch38": { "90": { "location": "8:11795573-11839309", "ensembl_id": "ENSG00000079459" } } }, "hgnc_date_symbol_changed": "1993-07-26" }, "entity_type": "gene", "entity_name": "FDFT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29909962" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Squalene synthase deficiency, MIM# 618156" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5099", "gene_name": "homeobox A1", "omim_gene": [ "142955" ], "alias_name": null, "gene_symbol": "HOXA1", "hgnc_symbol": "HOXA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:27132612-27135615", "ensembl_id": "ENSG00000105991" } }, "GRch38": { "90": { "location": "7:27092993-27095996", "ensembl_id": "ENSG00000105991" } } }, "hgnc_date_symbol_changed": "1990-06-15" }, "entity_type": "gene", "entity_name": "HOXA1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2553", "gene_name": "cullin 3", "omim_gene": [ "603136" ], "alias_name": null, "gene_symbol": "CUL3", "hgnc_symbol": "CUL3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:225334867-225450110", "ensembl_id": "ENSG00000036257" } }, "GRch38": { "90": { "location": "2:224470150-224585397", "ensembl_id": "ENSG00000036257" } } }, "hgnc_date_symbol_changed": "1998-10-29" }, "entity_type": "gene", "entity_name": "CUL3", "confidence_level": "2", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "32341456" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with or without autism or seizures, MIM# 619239", "Global developmental delay", "Intellectual disability", "Seizures", "Abnormality of cardiovascular system morphology", "Abnormality of the palate" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "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": [ "TREM-2", "Trem2a", "Trem2b", "Trem2c" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17761", "gene_name": "triggering receptor expressed on myeloid cells 2", "omim_gene": [ "605086" ], "alias_name": null, "gene_symbol": "TREM2", "hgnc_symbol": "TREM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:41126244-41130924", "ensembl_id": "ENSG00000095970" } }, "GRch38": { "90": { "location": "6:41158506-41163186", "ensembl_id": "ENSG00000095970" } } }, "hgnc_date_symbol_changed": "2002-08-09" }, "entity_type": "gene", "entity_name": "TREM2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 36820836", "24910390" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 MIM#618193" ], "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": [ "MRPS29", "DAP-3", "MRP-S29", "bMRP-10", "MGC126058", "MGC126059", "DKFZp686G12159" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2673", "gene_name": "death associated protein 3", "omim_gene": [ "602074" ], "alias_name": [ "mitochondrial 28S ribosomal protein S29" ], "gene_symbol": "DAP3", "hgnc_symbol": "DAP3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:155657751-155708801", "ensembl_id": "ENSG00000132676" } }, "GRch38": { "90": { "location": "1:155687960-155739010", "ensembl_id": "ENSG00000132676" } } }, "hgnc_date_symbol_changed": "1999-05-14" }, "entity_type": "gene", "entity_name": "DAP3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39701103" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Perrault syndrome 7, MIM# 621101" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 203, "hash_id": null, "name": "Mitochondrial disease", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.", "status": "public", "version": "1.16", "version_created": "2026-03-13T18:22:35.610861+11:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 438, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0719", "Tom70" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11985", "gene_name": "translocase of outer mitochondrial membrane 70", "omim_gene": [ "606081" ], "alias_name": null, "gene_symbol": "TOMM70", "hgnc_symbol": "TOMM70", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:100082275-100120242", "ensembl_id": "ENSG00000154174" } }, "GRch38": { "90": { "location": "3:100363431-100401398", "ensembl_id": "ENSG00000154174" } } }, "hgnc_date_symbol_changed": "2016-02-26" }, "entity_type": "gene", "entity_name": "TOMM70", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31907385" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Mitochondrial disease, MONDO:0044970, TOMM70-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 203, "hash_id": null, "name": "Mitochondrial disease", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.", "status": "public", "version": "1.16", "version_created": "2026-03-13T18:22:35.610861+11:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 438, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:14974", "gene_name": "sorting nexin 10", "omim_gene": [ "614780" ], "alias_name": null, "gene_symbol": "SNX10", "hgnc_symbol": "SNX10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:26331541-26413949", "ensembl_id": "ENSG00000086300" } }, "GRch38": { "90": { "location": "7:26291895-26374329", "ensembl_id": "ENSG00000086300" } } }, "hgnc_date_symbol_changed": "2001-04-10" }, "entity_type": "gene", "entity_name": "SNX10", "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": [ "CI-75k" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7707", "gene_name": "NADH:ubiquinone oxidoreductase core subunit S1", "omim_gene": [ "157655" ], "alias_name": [ "complex I 75kDa subunit", "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial" ], "gene_symbol": "NDUFS1", "hgnc_symbol": "NDUFS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:206979541-207024327", "ensembl_id": "ENSG00000023228" } }, "GRch38": { "90": { "location": "2:206114817-206159603", "ensembl_id": "ENSG00000023228" } } }, "hgnc_date_symbol_changed": "1992-04-03" }, "entity_type": "gene", "entity_name": "NDUFS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24952175", "20382551", "21203893" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 205, "hash_id": null, "name": "Callosome", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.593", "version_created": "2026-04-02T11:47:10.809612+11:00", "relevant_disorders": [ "Abnormal corpus callosum morphology", "HP:0001273" ], "stats": { "number_of_genes": 459, "number_of_strs": 2, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ATF6A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:791", "gene_name": "activating transcription factor 6", "omim_gene": [ "605537" ], "alias_name": [ "activating transcription factor 6 alpha" ], "gene_symbol": "ATF6", "hgnc_symbol": "ATF6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:161736084-161933860", "ensembl_id": "ENSG00000118217" } }, "GRch38": { "90": { "location": "1:161766294-161964070", "ensembl_id": "ENSG00000118217" } } }, "hgnc_date_symbol_changed": "1999-12-15" }, "entity_type": "gene", "entity_name": "ATF6", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39570676" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "ATF6-related retinopathy MONDO:0100447" ], "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": [ "COX2", "CO2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7421", "gene_name": "mitochondrially encoded cytochrome c oxidase II", "omim_gene": [ "516040" ], "alias_name": null, "gene_symbol": "MT-CO2", "hgnc_symbol": "MT-CO2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:7586-8269", "ensembl_id": "ENSG00000198712" } }, "GRch38": { "90": { "location": "MT:7586-8269", "ensembl_id": "ENSG00000198712" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-CO2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34325999", "30315213", "28521807", "10205264", "10486321", "11558799", "18245391", "23616164", "31167410", "23965802", "30030519" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "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": [ "MLTKalpha", "MLTKbeta", "ZAK", "MLTK", "MLK7", "MRK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17797", "gene_name": "mitogen-activated protein kinase kinase kinase 20", "omim_gene": [ "609479" ], "alias_name": [ "ZAK1 homolog, leucine zipper and sterile-alpha motif kinase (Dictyostelium)", "mixed lineage kinase 7" ], "gene_symbol": "MAP3K20", "hgnc_symbol": "MAP3K20", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:173940163-174132738", "ensembl_id": "ENSG00000091436" } }, "GRch38": { "90": { "location": "2:173075435-173268010", "ensembl_id": "ENSG00000091436" } } }, "hgnc_date_symbol_changed": "2016-10-19" }, "entity_type": "gene", "entity_name": "MAP3K20", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38451290" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Syndromic disease, MONDO:0002254, MAP3K20-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 209, "hash_id": null, "name": "Deafness_IsolatedAndComplex", "disease_group": "Hearing and ear disorders", "disease_sub_group": "", "description": "This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.361", "version_created": "2026-04-11T11:20:22.713350+10:00", "relevant_disorders": [ "Hearing impairment", "HP:0000365" ], "stats": { "number_of_genes": 348, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Hsal1", "ZNF794" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10524", "gene_name": "spalt like transcription factor 1", "omim_gene": [ "602218" ], "alias_name": null, "gene_symbol": "SALL1", "hgnc_symbol": "SALL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:51169886-51185278", "ensembl_id": "ENSG00000103449" } }, "GRch38": { "90": { "location": "16:51135975-51151367", "ensembl_id": "ENSG00000103449" } } }, "hgnc_date_symbol_changed": "1996-10-11" }, "entity_type": "gene", "entity_name": "SALL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Deafness Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Townes-Brocks syndrome 1, MIM#107480" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 209, "hash_id": null, "name": "Deafness_IsolatedAndComplex", "disease_group": "Hearing and ear disorders", "disease_sub_group": "", "description": "This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.361", "version_created": "2026-04-11T11:20:22.713350+10:00", "relevant_disorders": [ "Hearing impairment", "HP:0000365" ], "stats": { "number_of_genes": 348, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GATD5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2519", "gene_name": "CTP synthase 1", "omim_gene": [ "123860" ], "alias_name": null, "gene_symbol": "CTPS1", "hgnc_symbol": "CTPS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:41445007-41478235", "ensembl_id": "ENSG00000171793" } }, "GRch38": { "90": { "location": "1:40979335-41012565", "ensembl_id": "ENSG00000171793" } } }, "hgnc_date_symbol_changed": "2012-05-02" }, "entity_type": "gene", "entity_name": "CTPS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24870241" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Immunodeficiency 24, MIM#\t615897", "Recurrent/chronic bacterial and viral infections (EBV, VZV)", "EBV lymphoproliferation", "B-cell non-Hodgkin lymphoma" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 229, "hash_id": null, "name": "Disorders of immune dysregulation", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).", "status": "public", "version": "1.43", "version_created": "2026-04-06T13:01:39.255117+10:00", "relevant_disorders": [ "Immune dysregulation", "HP:0002958" ], "stats": { "number_of_genes": 118, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RPC1", "RPC155", "hRPC155" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30074", "gene_name": "RNA polymerase III subunit A", "omim_gene": [ "614258" ], "alias_name": null, "gene_symbol": "POLR3A", "hgnc_symbol": "POLR3A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:79734907-79789303", "ensembl_id": "ENSG00000148606" } }, "GRch38": { "90": { "location": "10:77969251-78029545", "ensembl_id": "ENSG00000148606" } } }, "hgnc_date_symbol_changed": "2004-09-16" }, "entity_type": "gene", "entity_name": "POLR3A", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28783042", "29728610" ], "evidence": [ "Expert Review Amber", "Expert list", "Expert Review Amber", "Expert list" ], "phenotypes": [ "varicella zoster infection MONDO:0005608" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 231, "hash_id": null, "name": "Defects of intrinsic and innate immunity", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause defects in intrinsic and innate immunity, including the following:\r\n- Mendelian susceptibility to mycobacterial disease (MSMD)\r\n- Epidermodysplasia verruciformis (HPV)\r\n- Predisposition to severe viral infection\r\n- Herpes simplex encephalitis (HSE)\r\n- Predisposition to mucocutaneous candidiasis\r\n- Other inborn errors of immunity related to non-haematopoietic tissues\r\n- Other inborn errors of immunity related to leukocytes\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).", "status": "public", "version": "1.39", "version_created": "2026-04-15T16:26:05.053680+10:00", "relevant_disorders": [ "Unusual infections", "HP:0032101" ], "stats": { "number_of_genes": 86, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "p40phox", "SH3PXD4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7662", "gene_name": "neutrophil cytosolic factor 4", "omim_gene": [ "601488" ], "alias_name": [ "neutrophil NADPH oxidase factor 4" ], "gene_symbol": "NCF4", "hgnc_symbol": "NCF4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:37257030-37274057", "ensembl_id": "ENSG00000100365" } }, "GRch38": { "90": { "location": "22:36860988-36878015", "ensembl_id": "ENSG00000100365" } } }, "hgnc_date_symbol_changed": "1996-06-19" }, "entity_type": "gene", "entity_name": "NCF4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19692703", "16880254", "29969437" ], "evidence": [ "Expert Review Green", "Expert list", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 233, "hash_id": null, "name": "Phagocyte Defects", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with abnormalities in phagocyte number, function or both. Susceptibility to infection from phagocytic dysfunction ranges from mild, recurrent skin infections to overwhelming, fatal systemic infection. Affected individuals are more susceptible to bacterial and fungal infections but have a normal resistance to viral infections. Most are diagnosed in infancy due to the severity of the infection or the unusual presentation of the organism, but some are diagnosed in adulthood. Includes:\r\n- Congenital Neutropenias\r\n- Defects of Motility\r\n- Defects of Respiratory Burst\r\n- Other Non-Lymphoid Defects\r\n\r\nUpdated with the 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications. \r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).\r\n\r\nThis panel was merged with and replaces the Melbourne Genomics Immunology Flagship Neutrophil Defects gene panel (22/03/2021).", "status": "public", "version": "1.45", "version_created": "2025-12-15T10:26:57.519304+11:00", "relevant_disorders": [ "Unusual infection", "HP:0032101" ], "stats": { "number_of_genes": 58, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "p180" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9173", "gene_name": "DNA polymerase alpha 1, catalytic subunit", "omim_gene": [ "312040" ], "alias_name": null, "gene_symbol": "POLA1", "hgnc_symbol": "POLA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:24712036-25015103", "ensembl_id": "ENSG00000101868" } }, "GRch38": { "90": { "location": "X:24693919-24996986", "ensembl_id": "ENSG00000101868" } } }, "hgnc_date_symbol_changed": "2006-09-26" }, "entity_type": "gene", "entity_name": "POLA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27019227" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#\t301220" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [ "deep intronic" ], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1667", "gene_name": "CD38 molecule", "omim_gene": [ "107270" ], "alias_name": [ "ADP-ribosyl cyclase 1", "NAD(+) nucleosidase" ], "gene_symbol": "CD38", "hgnc_symbol": "CD38", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:15779898-15854853", "ensembl_id": "ENSG00000004468" } }, "GRch38": { "90": { "location": "4:15778275-15853230", "ensembl_id": "ENSG00000004468" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "CD38", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert list", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [ "umccr" ], "panel": { "id": 243, "hash_id": null, "name": "Immune_markers_WTS_UMCCR", "disease_group": "Cancer", "disease_sub_group": "", "description": "Author: Jacek Marzec, jacek.marzec@unimelb.edu.au\r\n\r\nPurpose: panel of immune markers used to assess pre-existing anti-cancer immunity and likelihood of response to immunotherapy. This set of genes is used in UMCCR WTS report \"Immune markers\" section\r\n\r\nSource: https://www.omniseq.com\r\n\r\nGithub: https://github.com/umccr/RNAsum", "status": "public", "version": "0.77", "version_created": "2025-11-03T15:30:48.145923+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 71, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SATT", "ASCT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10942", "gene_name": "solute carrier family 1 member 4", "omim_gene": [ "600229" ], "alias_name": [ "alanine/serine/cysteine/threonine transporter" ], "gene_symbol": "SLC1A4", "hgnc_symbol": "SLC1A4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:65215611-65250999", "ensembl_id": "ENSG00000115902" } }, "GRch38": { "90": { "location": "2:64988477-65023865", "ensembl_id": "ENSG00000115902" } } }, "hgnc_date_symbol_changed": "1993-12-16" }, "entity_type": "gene", "entity_name": "SLC1A4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29989513", "27193218", "26138499", "26041762", "25930971" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM#\t616657", "MONDO:0014725" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "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": [ "KIAA1857", "Lmnt2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14288", "gene_name": "netrin G2", "omim_gene": null, "alias_name": [ "Netrin-G2" ], "gene_symbol": "NTNG2", "hgnc_symbol": "NTNG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:135037334-135119921", "ensembl_id": "ENSG00000196358" } }, "GRch38": { "90": { "location": "9:132161676-132244534", "ensembl_id": "ENSG00000196358" } } }, "hgnc_date_symbol_changed": "2003-12-03" }, "entity_type": "gene", "entity_name": "NTNG2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31668703", "31692205" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Intellectual disability", "autism", "dysmorphic features", "Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM#\t618718" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11573", "gene_name": "tyrosine aminotransferase", "omim_gene": [ "613018" ], "alias_name": null, "gene_symbol": "TAT", "hgnc_symbol": "TAT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:71599563-71611033", "ensembl_id": "ENSG00000198650" } }, "GRch38": { "90": { "location": "16:71565660-71577130", "ensembl_id": "ENSG00000198650" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "TAT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28255985" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "tyrosinemia type II MONDO:0010160" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "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": [ "AST", "SD", "ISSD", "NSD", "SIALIN", "SLD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10933", "gene_name": "solute carrier family 17 member 5", "omim_gene": [ "604322" ], "alias_name": null, "gene_symbol": "SLC17A5", "hgnc_symbol": "SLC17A5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:74303102-74363878", "ensembl_id": "ENSG00000119899" } }, "GRch38": { "90": { "location": "6:73593379-73654155", "ensembl_id": "ENSG00000119899" } } }, "hgnc_date_symbol_changed": "2000-01-06" }, "entity_type": "gene", "entity_name": "SLC17A5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10581036", "10947946" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Sialic acid storage disorder, infantile, MIM# 269920" ], "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": [ "MGC14993", "MGC23778", "PRO1992", "dJ382I10.6", "DALRD2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21406", "gene_name": "arginyl-tRNA synthetase 2, mitochondrial", "omim_gene": [ "611524" ], "alias_name": [ "arginine tRNA ligase 2, mitochondrial (putative)" ], "gene_symbol": "RARS2", "hgnc_symbol": "RARS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:88224096-88299721", "ensembl_id": "ENSG00000146282" } }, "GRch38": { "90": { "location": "6:87514378-87590003", "ensembl_id": "ENSG00000146282" } } }, "hgnc_date_symbol_changed": "2007-02-23" }, "entity_type": "gene", "entity_name": "RARS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17847012", "20635367", "25809939" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Pontocerebellar hypoplasia, type 6, MIM# 611523" ], "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": [ "MTPB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4803", "gene_name": "hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta", "omim_gene": [ "143450" ], "alias_name": [ "mitochondrial trifunctional protein, beta subunit" ], "gene_symbol": "HADHB", "hgnc_symbol": "HADHB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:26466038-26513336", "ensembl_id": "ENSG00000138029" } }, "GRch38": { "90": { "location": "2:26243170-26290468", "ensembl_id": "ENSG00000138029" } } }, "hgnc_date_symbol_changed": "1994-12-16" }, "entity_type": "gene", "entity_name": "HADHB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Trifunctional protein deficiency, MIM#609015" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "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:2978", "gene_name": "DNA methyltransferase 3 alpha", "omim_gene": [ "602769" ], "alias_name": null, "gene_symbol": "DNMT3A", "hgnc_symbol": "DNMT3A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:25455845-25565459", "ensembl_id": "ENSG00000119772" } }, "GRch38": { "90": { "location": "2:25227855-25342590", "ensembl_id": "ENSG00000119772" } } }, "hgnc_date_symbol_changed": "1998-07-15" }, "entity_type": "gene", "entity_name": "DNMT3A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30478443", "24614070" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Tatton-Brown-Rahman syndrome, MIM#615879", "primordial dwarfism with intellectual disability and microcephaly" ], "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": [ "CIP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17435", "gene_name": "solute carrier family 12 member 9", "omim_gene": [ "616861" ], "alias_name": [ "cation-chloride cotransporter-interacting protein" ], "gene_symbol": "SLC12A9", "hgnc_symbol": "SLC12A9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:100424442-100464631", "ensembl_id": "ENSG00000146828" } }, "GRch38": { "90": { "location": "7:100826820-100867009", "ensembl_id": "ENSG00000146828" } } }, "hgnc_date_symbol_changed": "2003-07-25" }, "entity_type": "gene", "entity_name": "SLC12A9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38334070" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, SLC12A9-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FIR", "SIAHBP1", "RoBPI" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17042", "gene_name": "poly(U) binding splicing factor 60", "omim_gene": [ "604819" ], "alias_name": [ "siah binding protein 1", "FBP interacting repressor", "pyrimidine tract binding splicing factor", "Ro ribonucleoprotein binding protein 1" ], "gene_symbol": "PUF60", "hgnc_symbol": "PUF60", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:144898514-144912029", "ensembl_id": "ENSG00000179950" } }, "GRch38": { "90": { "location": "8:143816344-143829859", "ensembl_id": "ENSG00000179950" } } }, "hgnc_date_symbol_changed": "2007-07-27" }, "entity_type": "gene", "entity_name": "PUF60", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28327570", "24140112", "27804958" ], "evidence": [ "Expert Review Green", "Other", "Literature", "NHS GMS" ], "phenotypes": [ "Verheij syndrome, 615583", "Chromosome 8q24.3 deletion syndrome", "VRJS", "PUF60 syndrome" ], "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": [ "PEO", "PEO1", "TWINKLE", "FLJ21832", "TWINL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1160", "gene_name": "twinkle mtDNA helicase", "omim_gene": [ "606075" ], "alias_name": [ "T7 helicase-related protein with intramitochondrial nucleoid localization" ], "gene_symbol": "TWNK", "hgnc_symbol": "TWNK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:102747124-102754158", "ensembl_id": "ENSG00000107815" } }, "GRch38": { "90": { "location": "10:100987367-100994401", "ensembl_id": "ENSG00000107815" } } }, "hgnc_date_symbol_changed": "2016-10-11" }, "entity_type": "gene", "entity_name": "TWNK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green" ], "phenotypes": [ "Mitochondrial DNA depletion syndrome 7, 271245", "Ataxia Neuropathy Spectrum Disorders, Dominant", "Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286", "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286", "Perrault syndrome 5, 616138", "Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245", "Spinocerebellar Ataxia, Recessive" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FP", "SDHF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10680", "gene_name": "succinate dehydrogenase complex flavoprotein subunit A", "omim_gene": [ "600857" ], "alias_name": [ "succinate dehydrogenase [ubiquinone] flavoprotein subunit", "flavoprotein subunit of complex II" ], "gene_symbol": "SDHA", "hgnc_symbol": "SDHA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:218356-256815", "ensembl_id": "ENSG00000073578" } }, "GRch38": { "90": { "location": "5:218241-256700", "ensembl_id": "ENSG00000073578" } } }, "hgnc_date_symbol_changed": "1995-10-24" }, "entity_type": "gene", "entity_name": "SDHA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green" ], "phenotypes": [ "Mitochondrial respiratory chain complex II deficiency, MIM#252011" ], "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": null }, { "gene_data": { "alias": [ "SPG49" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20582", "gene_name": "cytochrome P450 family 2 subfamily U member 1", "omim_gene": [ "610670" ], "alias_name": [ "spastic paraplegia 49" ], "gene_symbol": "CYP2U1", "hgnc_symbol": "CYP2U1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:108852525-108874613", "ensembl_id": "ENSG00000155016" } }, "GRch38": { "90": { "location": "4:107931369-107953457", "ensembl_id": "ENSG00000155016" } } }, "hgnc_date_symbol_changed": "2004-03-11" }, "entity_type": "gene", "entity_name": "CYP2U1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23176821", "32006740", "29034544" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Spastic paraplegia 56, autosomal recessive, 615030" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3579", "gene_name": "fumarylacetoacetate hydrolase", "omim_gene": [ "613871" ], "alias_name": [ "fumarylacetoacetase" ], "gene_symbol": "FAH", "hgnc_symbol": "FAH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:80444832-80479288", "ensembl_id": "ENSG00000103876" } }, "GRch38": { "90": { "location": "15:80152490-80186946", "ensembl_id": "ENSG00000103876" } } }, "hgnc_date_symbol_changed": "1989-06-07" }, "entity_type": "gene", "entity_name": "FAH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "Tyrosinemia, type I, MIM#\t276700" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "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": [ "MGC126582", "DKFZp781B0869" ], "biotype": "protein_coding", "hgnc_id": "HGNC:904", "gene_name": "axin 2", "omim_gene": [ "604025" ], "alias_name": [ "conductin", "axil" ], "gene_symbol": "AXIN2", "hgnc_symbol": "AXIN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:63524681-63557765", "ensembl_id": "ENSG00000168646" } }, "GRch38": { "90": { "location": "17:65528563-65561647", "ensembl_id": "ENSG00000168646" } } }, "hgnc_date_symbol_changed": "1998-09-17" }, "entity_type": "gene", "entity_name": "AXIN2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "15042511", "21626677", "21416598", "34637023" ], "evidence": [ "Expert Review Amber", "Expert Review" ], "phenotypes": [ "Oligodontia-colorectal cancer syndrome, MIM# 608615" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3089, "hash_id": null, "name": "Ectodermal Dysplasia", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body.\r\n\r\nThis is a consensus panel used by RMH and VCGS.\r\n\r\nPlease refer to the Hair Disorders panel for disorders primarily affecting hair.", "status": "public", "version": "0.110", "version_created": "2026-03-31T16:43:36.155380+11:00", "relevant_disorders": [ "Ectodermal dysplasia", "HP:0000968" ], "stats": { "number_of_genes": 61, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6481", "gene_name": "laminin subunit alpha 1", "omim_gene": [ "150320" ], "alias_name": null, "gene_symbol": "LAMA1", "hgnc_symbol": "LAMA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:6941743-7117813", "ensembl_id": "ENSG00000101680" } }, "GRch38": { "90": { "location": "18:6941744-7117814", "ensembl_id": "ENSG00000101680" } } }, "hgnc_date_symbol_changed": "1989-05-25" }, "entity_type": "gene", "entity_name": "LAMA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "RetNet" ], "phenotypes": [ "Poretti-Boltshauser syndrome, MIM# 615960" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3099, "hash_id": null, "name": "Syndromic Retinopathy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.", "status": "public", "version": "0.256", "version_created": "2026-03-31T19:05:29.271183+11:00", "relevant_disorders": [ "Retinopathy", "HP:0000488" ], "stats": { "number_of_genes": 138, "number_of_strs": 1, "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": null }, { "gene_data": { "alias": [ "MetRS", "SPG70", "CMT2U" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6898", "gene_name": "methionyl-tRNA synthetase", "omim_gene": [ "156560" ], "alias_name": [ "methionine tRNA ligase 1, cytoplasmic" ], "gene_symbol": "MARS", "hgnc_symbol": "MARS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:57869228-57911352", "ensembl_id": "ENSG00000166986" } }, "GRch38": { "90": { "location": "12:57475445-57517569", "ensembl_id": "ENSG00000166986" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "MARS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Interstitial lung and liver disease, 615486 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "POLG1", "POLGA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9179", "gene_name": "DNA polymerase gamma, catalytic subunit", "omim_gene": [ "174763" ], "alias_name": null, "gene_symbol": "POLG", "hgnc_symbol": "POLG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:89859534-89878092", "ensembl_id": "ENSG00000140521" } }, "GRch38": { "90": { "location": "15:89305198-89334861", "ensembl_id": "ENSG00000140521" } } }, "hgnc_date_symbol_changed": "1992-02-06" }, "entity_type": "gene", "entity_name": "POLG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31425757", "27838477" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital", "Expert list" ], "phenotypes": [ "POLG-related MELAS" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3141, "hash_id": null, "name": "Stroke", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.", "status": "public", "version": "1.48", "version_created": "2026-03-31T17:20:59.161732+11:00", "relevant_disorders": [ "Stroke", "HP:0001297" ], "stats": { "number_of_genes": 75, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": 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": "", "publications": [ "26164256" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Blau syndrome MIM#186580", "granulomatous disease" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3159, "hash_id": null, "name": "Chronic granulomatous disease", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause chronic granulomatous disease.\r\n\r\nChronic granulomatous disease (CGD) is an inherited defect in phagocytic respiratory burst that results in severe and life-threatening infections in children.", "status": "public", "version": "1.3", "version_created": "2023-01-03T12:30:39.102790+11:00", "relevant_disorders": [ "Chronic granulomatous disease", "MONDO:0018305; Recurrent bacterial infections", "HP:0002718" ], "stats": { "number_of_genes": 8, "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": [ "PBP", "Pc-1", "TRPP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9008", "gene_name": "polycystin 1, transient receptor potential channel interacting", "omim_gene": [ "601313" ], "alias_name": [ "polycystin 1", "transient receptor potential cation channel, subfamily P, member 1" ], "gene_symbol": "PKD1", "hgnc_symbol": "PKD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:2138711-2185899", "ensembl_id": "ENSG00000008710" } }, "GRch38": { "90": { "location": "16:2088710-2135898", "ensembl_id": "ENSG00000008710" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PKD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "8554072", "3178424", "9211343" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Polycystic Kidney Disease 1 with or without polycystic liver disease (173900)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3274, "hash_id": null, "name": "Polycystic liver disease", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed by GHQ and is a consensus panel used by VCGS.", "status": "public", "version": "1.8", "version_created": "2023-01-04T20:28:54.017980+11:00", "relevant_disorders": [ "Polycystic liver disease", "HP:0006557" ], "stats": { "number_of_genes": 13, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CDK4I", "p16", "INK4a", "MTS1", "CMM2", "ARF", "p19", "p14", "INK4", "p16INK4a", "p19Arf", "p14ARF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1787", "gene_name": "cyclin dependent kinase inhibitor 2A", "omim_gene": [ "600160" ], "alias_name": null, "gene_symbol": "CDKN2A", "hgnc_symbol": "CDKN2A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:21967751-21995300", "ensembl_id": "ENSG00000147889" } }, "GRch38": { "90": { "location": "9:21967753-21995301", "ensembl_id": "ENSG00000147889" } } }, "hgnc_date_symbol_changed": "1994-05-19" }, "entity_type": "gene", "entity_name": "CDKN2A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "SA Pathology" ], "phenotypes": [ "Melanoma, MONDO:0005105", "Melanoma cutaneous malignant susceptibility to 2, MONDO:0007964", "Melanoma-pancreatic cancer syndrome, MONDO:0011713", "Melanoma and neural system tumor syndrome, MONDO:0007967", "Melanoma, cutaneous malignant, 2, MIM#155601", "Melanoma-pancreatic cancer syndrome, MIM#606719", "Melanoma and neural system tumor syndrome, MIM#155755" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3279, "hash_id": null, "name": "Melanoma", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with melanoma. \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 melanoma 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 was previously developed by the Adult Genetics Unit, Royal Adelaide Hospital and SA Pathology. The panel has been updated under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:32:48.260830+11:00", "relevant_disorders": [ "Melanoma", "HP:0002861" ], "stats": { "number_of_genes": 4, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "SA Pathology", "slug": "sa-pathology", "description": "SA Pathology" }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" }, { "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": [ "BCNS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9585", "gene_name": "patched 1", "omim_gene": [ "601309" ], "alias_name": null, "gene_symbol": "PTCH1", "hgnc_symbol": "PTCH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:98205262-98279339", "ensembl_id": "ENSG00000185920" } }, "GRch38": { "90": { "location": "9:95442980-95517057", "ensembl_id": "ENSG00000185920" } } }, "hgnc_date_symbol_changed": "2006-09-26" }, "entity_type": "gene", "entity_name": "PTCH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "SA Pathology" ], "phenotypes": [ "Medulloblastoma, MONDO:0007959", "Basal cell nevus syndrome 1, MONDO:0958174", "Basal cell nevus syndrome 1, MIM#109400" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3280, "hash_id": null, "name": "Medulloblastoma", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with medulloblastoma. \r\n\r\nFurther information on the testing criteria for medulloblastoma can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/paediatric/genetic-testing-using-cancer-gene-panels/3654-medulloblastoma-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 medulloblastoma 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\n\r\nThis panel was developed by the Adult Genetics Unit, Royal Adelaide Hospital and SA Pathology. This panel has been updated under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:31:30.977610+11:00", "relevant_disorders": [ "Medulloblastoma", "HP:0002885" ], "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": "SA Pathology", "slug": "sa-pathology", "description": "SA Pathology" }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" }, { "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": [ "TJ6", "a2", "TJ6s", "TJ6M", "ATP6a2", "J6B7", "ATP6N1D", "Vph1", "Stv1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18481", "gene_name": "ATPase H+ transporting V0 subunit a2", "omim_gene": [ "611716" ], "alias_name": [ "infantile malignant osteopetrosis" ], "gene_symbol": "ATP6V0A2", "hgnc_symbol": "ATP6V0A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:124196865-124246302", "ensembl_id": "ENSG00000185344" } }, "GRch38": { "90": { "location": "12:123712318-123761755", "ensembl_id": "ENSG00000185344" } } }, "hgnc_date_symbol_changed": "2002-05-09" }, "entity_type": "gene", "entity_name": "ATP6V0A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Cutis laxa, autosomal recessive, type IIA" ], "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": [ "AHD", "AWS", "HJ1", "CD339" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6188", "gene_name": "jagged 1", "omim_gene": [ "601920" ], "alias_name": null, "gene_symbol": "JAG1", "hgnc_symbol": "JAG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:10618332-10654694", "ensembl_id": "ENSG00000101384" } }, "GRch38": { "90": { "location": "20:10637684-10674107", "ensembl_id": "ENSG00000101384" } } }, "hgnc_date_symbol_changed": "1997-05-22" }, "entity_type": "gene", "entity_name": "JAG1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Alagille 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": [ "CD40L", "TRAP", "gp39", "hCD40L", "CD154" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11935", "gene_name": "CD40 ligand", "omim_gene": [ "300386" ], "alias_name": [ "CD40 antigen ligand", "tumor necrosis factor (ligand) superfamily member 5", "T-B cell-activating molecule", "TNF-related activation protein", "hyper-IgM syndrome" ], "gene_symbol": "CD40LG", "hgnc_symbol": "CD40LG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:135730352-135742549", "ensembl_id": "ENSG00000102245" } }, "GRch38": { "90": { "location": "X:136648193-136660390", "ensembl_id": "ENSG00000102245" } } }, "hgnc_date_symbol_changed": "2005-01-14" }, "entity_type": "gene", "entity_name": "CD40LG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Immunodeficiency, X-linked, with hyper-IgM" ], "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": [ "CPX", "CPXD", "CHO2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3133", "gene_name": "emopamil binding protein (sterol isomerase)", "omim_gene": [ "300205" ], "alias_name": [ "3-beta-hydroxysteroid-delta-8,delta-7-isomerase", "Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)", "sterol 8-isomerase" ], "gene_symbol": "EBP", "hgnc_symbol": "EBP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:48379546-48387104", "ensembl_id": "ENSG00000147155" } }, "GRch38": { "90": { "location": "X:48521158-48528716", "ensembl_id": "ENSG00000147155" } } }, "hgnc_date_symbol_changed": "2000-02-21" }, "entity_type": "gene", "entity_name": "EBP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green" ], "phenotypes": [ "MEND SYNDROME", "MEND" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "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": [ "RAR", "NR1B1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9864", "gene_name": "retinoic acid receptor alpha", "omim_gene": [ "180240" ], "alias_name": null, "gene_symbol": "RARA", "hgnc_symbol": "RARA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:38465444-38513094", "ensembl_id": "ENSG00000131759" } }, "GRch38": { "90": { "location": "17:40309192-40357643", "ensembl_id": "ENSG00000131759" } } }, "hgnc_date_symbol_changed": "1988-06-09" }, "entity_type": "gene", "entity_name": "RARA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "NSW Health Pathology", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 3437, "hash_id": null, "name": "Incidentalome_PREGEN_DRAFT", "disease_group": "", "disease_sub_group": "", "description": "Imported to facilitate update work. Do not use while labeled as DRAFT", "status": "public", "version": "0.43", "version_created": "2021-01-20T16:42:09.286633+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 173, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12404", "gene_name": "alpha tocopherol transfer protein", "omim_gene": [ "600415" ], "alias_name": null, "gene_symbol": "TTPA", "hgnc_symbol": "TTPA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:63961112-63998612", "ensembl_id": "ENSG00000137561" } }, "GRch38": { "90": { "location": "8:63048553-63086053", "ensembl_id": "ENSG00000137561" } } }, "hgnc_date_symbol_changed": "1993-07-06" }, "entity_type": "gene", "entity_name": "TTPA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27604308", "7719340" ], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "Ataxia with isolated vitamin E deficiency MIM#277460", "disorders of vitamins and cofactors" ], "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": [ "Gsh4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21734", "gene_name": "LIM homeobox 4", "omim_gene": [ "602146" ], "alias_name": null, "gene_symbol": "LHX4", "hgnc_symbol": "LHX4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:180199421-180249380", "ensembl_id": "ENSG00000121454" } }, "GRch38": { "90": { "location": "1:180230286-180278982", "ensembl_id": "ENSG00000121454" } } }, "hgnc_date_symbol_changed": "2003-07-21" }, "entity_type": "gene", "entity_name": "LHX4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25955177", "26416826 (2015 review)", "11567216" ], "evidence": [ "Genomics England PanelApp", "Expert Review Green" ], "phenotypes": [ "anterior pituitary hypoplasia", "GH, TSH, ACTH, variable gonadotrophin deficiencies", "etopic posterior pituitary", "Pituitary hormone deficiency, combined, 4, 262700", "cerebellar abnormalities" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "treatable" ], "panel": { "id": 3471, "hash_id": null, "name": "Congenital hypothyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Thyroid disorders", "description": "This panel contains genes associated with congenital hypothyroidism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'congenital hypothyroidism' panel V3.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.120", "version_created": "2026-04-02T11:51:29.895216+11:00", "relevant_disorders": [ "Hypothyroidism HP:0000821" ], "stats": { "number_of_genes": 63, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "IGDS", "RS", "Brx1", "Otlx2", "ARP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9005", "gene_name": "paired like homeodomain 2", "omim_gene": [ "601542" ], "alias_name": null, "gene_symbol": "PITX2", "hgnc_symbol": "PITX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:111538579-111563279", "ensembl_id": "ENSG00000164093" } }, "GRch38": { "90": { "location": "4:110617423-110642123", "ensembl_id": "ENSG00000164093" } } }, "hgnc_date_symbol_changed": "1992-10-05" }, "entity_type": "gene", "entity_name": "PITX2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Axenfeld-Rieger syndrome, type 1, MIM# 180500" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3631, "hash_id": null, "name": "Growth failure", "disease_group": "", "disease_sub_group": "", "description": "This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.", "status": "public", "version": "1.102", "version_created": "2026-04-01T10:17:12.005431+11:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 4 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CCHL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4837", "gene_name": "holocytochrome c synthase", "omim_gene": [ "300056" ], "alias_name": [ "cytochrome c heme-lyase" ], "gene_symbol": "HCCS", "hgnc_symbol": "HCCS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:11129421-11141198", "ensembl_id": "ENSG00000004961" } }, "GRch38": { "90": { "location": "X:11111301-11123078", "ensembl_id": "ENSG00000004961" } } }, "hgnc_date_symbol_changed": "1995-09-20" }, "entity_type": "gene", "entity_name": "HCCS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30266093" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Linear skin defects with multiple congenital anomalies 1, MIM# 309801" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11494", "gene_name": "synapsin I", "omim_gene": [ "313440" ], "alias_name": null, "gene_symbol": "SYN1", "hgnc_symbol": "SYN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:47431303-47479252", "ensembl_id": "ENSG00000008056" } }, "GRch38": { "90": { "location": "X:47571898-47619943", "ensembl_id": "ENSG00000008056" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "SYN1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM#\t300491", "Intellectual developmental disorder, X-linked 50, MIM#\t300115" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": [ "KIAA1140" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19750", "gene_name": "tetratricopeptide repeat domain 7A", "omim_gene": [ "609332" ], "alias_name": null, "gene_symbol": "TTC7A", "hgnc_symbol": "TTC7A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:47143296-47303276", "ensembl_id": "ENSG00000068724" } }, "GRch38": { "90": { "location": "2:46916157-47076137", "ensembl_id": "ENSG00000068724" } } }, "hgnc_date_symbol_changed": "2004-06-02" }, "entity_type": "gene", "entity_name": "TTC7A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24417819", "24292712", "23830146", "29174094", "31743734" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Gastrointestinal defects and immunodeficiency syndrome, MIM# 243150" ], "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": [ "PIG2", "TP53I2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4136", "gene_name": "guanidinoacetate N-methyltransferase", "omim_gene": [ "601240" ], "alias_name": null, "gene_symbol": "GAMT", "hgnc_symbol": "GAMT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:1397091-1401569", "ensembl_id": "ENSG00000130005" } }, "GRch38": { "90": { "location": "19:1397026-1401570", "ensembl_id": "ENSG00000130005" } } }, "hgnc_date_symbol_changed": "1996-07-19" }, "entity_type": "gene", "entity_name": "GAMT", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Cerebral creatine deficiency syndrome 2 MIM#612736" ], "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": [ "DBX", "HLP2", "DDX14" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2745", "gene_name": "DEAD-box helicase 3, X-linked", "omim_gene": [ "300160" ], "alias_name": null, "gene_symbol": "DDX3X", "hgnc_symbol": "DDX3X", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:41192651-41223725", "ensembl_id": "ENSG00000215301" } }, "GRch38": { "90": { "location": "X:41333348-41364472", "ensembl_id": "ENSG00000215301" } } }, "hgnc_date_symbol_changed": "2003-06-20" }, "entity_type": "gene", "entity_name": "DDX3X", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30266093", "26235985", "25533962", "33528536", "30936465", "31274575", "30817323" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CL25022", "cblD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25221", "gene_name": "methylmalonic aciduria and homocystinuria, cblD type", "omim_gene": [ "611935" ], "alias_name": null, "gene_symbol": "MMADHC", "hgnc_symbol": "MMADHC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:150426148-150444330", "ensembl_id": "ENSG00000168288" } }, "GRch38": { "90": { "location": "2:149569634-149587816", "ensembl_id": "ENSG00000168288" } } }, "hgnc_date_symbol_changed": "2009-01-08" }, "entity_type": "gene", "entity_name": "MMADHC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29152456", "27604308", "18385497" ], "evidence": [ "Expert Review Green", "Literature", "NHS GMS" ], "phenotypes": [ "methylmalonic aciduria and homocystinuria type cblD MONDO:0010185" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 3929, "hash_id": null, "name": "Aminoacidopathy", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.143", "version_created": "2026-04-01T10:30:06.755640+11:00", "relevant_disorders": [ "Abnormality of amino acid metabolism", "HP:0004337" ], "stats": { "number_of_genes": 134, "number_of_strs": 1, "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": null }, { "gene_data": { "alias": [ "BMD", "DXS142", "DXS164", "DXS206", "DXS230", "DXS239", "DXS268", "DXS269", "DXS270", "DXS272" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2928", "gene_name": "dystrophin", "omim_gene": [ "300377" ], "alias_name": [ "muscular dystrophy, Duchenne and Becker types" ], "gene_symbol": "DMD", "hgnc_symbol": "DMD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:31115794-33357558", "ensembl_id": "ENSG00000198947" } }, "GRch38": { "90": { "location": "X:31097677-33339441", "ensembl_id": "ENSG00000198947" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "DMD", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "36278620", "36152336", "35562557", "35307847" ], "evidence": [ "Expert Review Amber", "BabySeq Category A gene", "BabySeq Category B gene", "BeginNGS" ], "phenotypes": [ "Duchenne muscular dystrophy MIM#310200" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [ "neurological" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LCAD", "ACAD4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:88", "gene_name": "acyl-CoA dehydrogenase long chain", "omim_gene": [ "609576" ], "alias_name": null, "gene_symbol": "ACADL", "hgnc_symbol": "ACADL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:211052663-211090215", "ensembl_id": "ENSG00000115361" } }, "GRch38": { "90": { "location": "2:210187939-210225491", "ensembl_id": "ENSG00000115361" } } }, "hgnc_date_symbol_changed": "1988-11-07" }, "entity_type": "gene", "entity_name": "ACADL", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Sudden infant death" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "dj747L4.1", "TPIT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11596", "gene_name": "T-box 19", "omim_gene": [ "604614" ], "alias_name": [ "TBS 19" ], "gene_symbol": "TBX19", "hgnc_symbol": "TBX19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:168250278-168283664", "ensembl_id": "ENSG00000143178" } }, "GRch38": { "90": { "location": "1:168281040-168314426", "ensembl_id": "ENSG00000143178" } } }, "hgnc_date_symbol_changed": "1999-02-01" }, "entity_type": "gene", "entity_name": "TBX19", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30086867" ], "evidence": [ "Expert Review Green", "BeginNGS" ], "phenotypes": [ "Adrenocorticotropic hormone deficiency, MIM#201400" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "endocrine" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BRN3C" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9220", "gene_name": "POU class 4 homeobox 3", "omim_gene": [ "602460" ], "alias_name": null, "gene_symbol": "POU4F3", "hgnc_symbol": "POU4F3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:145718587-145720083", "ensembl_id": "ENSG00000091010" } }, "GRch38": { "90": { "location": "5:146339024-146340520", "ensembl_id": "ENSG00000091010" } } }, "hgnc_date_symbol_changed": "1998-01-07" }, "entity_type": "gene", "entity_name": "POU4F3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Deafness, autosomal dominant 15, MIM# 602459" ], "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": [ "FLJ14466", "CRACM1" ], "biotype": null, "hgnc_id": "HGNC:25896", "gene_name": "ORAI calcium release-activated calcium modulator 1", "omim_gene": [ "610277" ], "alias_name": [ "calcium release-activated calcium modulator 1" ], "gene_symbol": "ORAI1", "hgnc_symbol": "ORAI1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:122064455-122080583", "ensembl_id": "ENSG00000182500" } }, "GRch38": { "90": { "location": "12:121626550-121642677", "ensembl_id": "ENSG00000276045" } } }, "hgnc_date_symbol_changed": "2007-08-14" }, "entity_type": "gene", "entity_name": "ORAI1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Immunodeficiency 9, MIM# 612782" ], "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": [ "BLOC3S1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5163", "gene_name": "HPS1, biogenesis of lysosomal organelles complex 3 subunit 1", "omim_gene": [ "604982" ], "alias_name": null, "gene_symbol": "HPS1", "hgnc_symbol": "HPS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:100175955-100206684", "ensembl_id": "ENSG00000107521" } }, "GRch38": { "90": { "location": "10:98416198-98446947", "ensembl_id": "ENSG00000107521" } } }, "hgnc_date_symbol_changed": "2002-05-01" }, "entity_type": "gene", "entity_name": "HPS1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Hermansky-Pudlak syndrome 1, MIM# 203300" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "jdf2", "p528", "D15F37S1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4868", "gene_name": "HECT and RLD domain containing E3 ubiquitin protein ligase 2", "omim_gene": [ "605837" ], "alias_name": null, "gene_symbol": "HERC2", "hgnc_symbol": "HERC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:28356186-28567298", "ensembl_id": "ENSG00000128731" } }, "GRch38": { "90": { "location": "15:28111040-28322152", "ensembl_id": "ENSG00000128731" } } }, "hgnc_date_symbol_changed": "1999-01-07" }, "entity_type": "gene", "entity_name": "HERC2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Autism spectrum disorder" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Kir3.4", "CIR", "KATP1", "GIRK4", "LQT13" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6266", "gene_name": "potassium voltage-gated channel subfamily J member 5", "omim_gene": [ "600734" ], "alias_name": null, "gene_symbol": "KCNJ5", "hgnc_symbol": "KCNJ5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:128761251-128790930", "ensembl_id": "ENSG00000120457" } }, "GRch38": { "90": { "location": "11:128891356-128921035", "ensembl_id": "ENSG00000120457" } } }, "hgnc_date_symbol_changed": "1995-04-13" }, "entity_type": "gene", "entity_name": "KCNJ5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Long QT syndrome" ], "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": [ "LOC338328", "GPI-HBP1" ], "biotype": null, "hgnc_id": "HGNC:24945", "gene_name": "glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1", "omim_gene": [ "612757" ], "alias_name": [ "endothelial cell LPL transporter" ], "gene_symbol": "GPIHBP1", "hgnc_symbol": "GPIHBP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:144295068-144299044", "ensembl_id": "ENSG00000182851" } }, "GRch38": { "90": { "location": "8:143213193-143217170", "ensembl_id": "ENSG00000277494" } } }, "hgnc_date_symbol_changed": "2008-02-07" }, "entity_type": "gene", "entity_name": "GPIHBP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert list", "Royal Melbourne Hospital", "Expert Review Green" ], "phenotypes": [ "Hyperlipoproteinemia, type ID" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4126, "hash_id": null, "name": "Transplant Co-Morbidity", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma", "status": "public", "version": "0.21", "version_created": "2026-01-16T12:00:12.269232+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 278, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7758", "gene_name": "neuraminidase 1", "omim_gene": [ "608272" ], "alias_name": null, "gene_symbol": "NEU1", "hgnc_symbol": "NEU1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:31825436-31830683", "ensembl_id": "ENSG00000204386" } }, "GRch38": { "90": { "location": "6:31857659-31862906", "ensembl_id": "ENSG00000204386" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "NEU1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11063730", "8985184", "9054950", "39194692" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Sialidosis, type I, MIM #256550", "Sialidosis, type II, MIM #256550" ], "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": [ "FAF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3587", "gene_name": "Fanconi anemia complementation group F", "omim_gene": [ "613897" ], "alias_name": null, "gene_symbol": "FANCF", "hgnc_symbol": "FANCF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:22644079-22647387", "ensembl_id": "ENSG00000183161" } }, "GRch38": { "90": { "location": "11:22622519-22626787", "ensembl_id": "ENSG00000183161" } } }, "hgnc_date_symbol_changed": "1998-08-26" }, "entity_type": "gene", "entity_name": "FANCF", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10615118", "31288759", "20301575" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Fanconi anaemia, complementation group F, MIM#603467" ], "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": [ "KIAA1784", "KIAA1987", "FANCP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23845", "gene_name": "SLX4 structure-specific endonuclease subunit", "omim_gene": [ "613278" ], "alias_name": [ "Fanconi anemia, complementation group P" ], "gene_symbol": "SLX4", "hgnc_symbol": "SLX4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:3631182-3661599", "ensembl_id": "ENSG00000188827" } }, "GRch38": { "90": { "location": "16:3581181-3611598", "ensembl_id": "ENSG00000188827" } } }, "hgnc_date_symbol_changed": "2010-09-13" }, "entity_type": "gene", "entity_name": "SLX4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Hereditary breast carcinoma, MONDO:0016419" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "refuted" ], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-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 breast 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": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "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": [] } ] }