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GET /api/v1/entities/?format=api&page=278
{ "count": 36038, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=279", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=277", "results": [ { "gene_data": { "alias": [ "MAP5", "PPP1R102" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6836", "gene_name": "microtubule associated protein 1B", "omim_gene": [ "157129" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 102" ], "gene_symbol": "MAP1B", "hgnc_symbol": "MAP1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:71403061-71505395", "ensembl_id": "ENSG00000131711" } }, "GRch38": { "90": { "location": "5:72107234-72209570", "ensembl_id": "ENSG00000131711" } } }, "hgnc_date_symbol_changed": "1992-02-06" }, "entity_type": "gene", "entity_name": "MAP1B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31317654", "30150678", "30214071" ], "evidence": [ "Expert Review Green", "Australian Genomics Health Alliance Brain Malformation Flagship", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Brain Malformations Flagship" ], "phenotypes": [ "Intellectual disability", "seizures", "PVNH", "dysmorphic features", "Periventricular nodular heterotopia 9, MIM# 618918" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 19, "hash_id": null, "name": "Periventricular Grey Matter Heterotopia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Periventricular nodular heterotopia is a disorder of neuronal migration in which neurons fail to migrate appropriately from the ventricular zone to the cortex during development, resulting in the formation of nodular brain tissue lining the ventricles.\r\n\r\nThis panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS and a consensus panel used by RMH.", "status": "public", "version": "1.2", "version_created": "2023-01-04T20:17:09.749124+11:00", "relevant_disorders": [ "Grey matter heterotopia", "HP:0002282" ], "stats": { "number_of_genes": 12, "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": [ "TUBA3", "B-ALPHA-1", "FLJ25113" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20766", "gene_name": "tubulin alpha 1a", "omim_gene": [ "602529" ], "alias_name": [ "tubulin, alpha, brain-specific" ], "gene_symbol": "TUBA1A", "hgnc_symbol": "TUBA1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:49578579-49583107", "ensembl_id": "ENSG00000167552" } }, "GRch38": { "90": { "location": "12:49184796-49189324", "ensembl_id": "ENSG00000167552" } } }, "hgnc_date_symbol_changed": "2007-01-30" }, "entity_type": "gene", "entity_name": "TUBA1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Brain Malformations Flagship" ], "phenotypes": [], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 21, "hash_id": null, "name": "Tubulinopathies", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nTubulinopathies refer to a wide spectrum of cortical malformations that result from defects in genes encoding the tubulin protein that regulates neuronal migration during brain development.\r\n\r\nBrain malformations include:\r\n-A range of lissencephalies (classic lissencephaly, lissencephaly with cerebellar hypoplasia, lissencephaly with agenesis of the corpus callosum, and centrally predominant pachygyria),\r\n-Polymicrogyria-like cortical dysplasia,\r\n-Simplified gyral pattern, and\r\n-Microlissencephaly often in combination with dysplastic basal ganglia, corpus callosum abnormalities, and hypoplasia or dysplasia of the brain stem and cerebellum.\r\n\r\nClinical features include motor and intellectual disabilities, epilepsy, and ocular findings of varying severity.\r\n\r\nWhere imaging and clinical features are less specific, consider applying the Malformations of Cortical Development superpanel.", "status": "public", "version": "1.2", "version_created": "2024-09-11T12:06:06.122951+10:00", "relevant_disorders": [ "Abnormal cortical gyration", "HP:0002536" ], "stats": { "number_of_genes": 9, "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": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6654", "gene_name": "LIM homeobox transcription factor 1 beta", "omim_gene": [ "602575" ], "alias_name": null, "gene_symbol": "LMX1B", "hgnc_symbol": "LMX1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:129376722-129463311", "ensembl_id": "ENSG00000136944" } }, "GRch38": { "90": { "location": "9:126614443-126701032", "ensembl_id": "ENSG00000136944" } } }, "hgnc_date_symbol_changed": "1998-02-11" }, "entity_type": "gene", "entity_name": "LMX1B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 39, "hash_id": null, "name": "Haematuria_Alport", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panels is intended for use in individuals presenting predominantly with haematuria and/or other features strongly suggestive of Alport syndrome. MBS funding is available for testing of the COL4A3, COL4A4 and COL4A5 genes.\r\n\r\nWhere the clinical presentation is less specific but still strongly suggestive of monogenic glomerular disease, please consider using the broader Renal Glomerular Disease panel.\r\n\r\nThis is a consensus panel used by the KidGen Collaborative, VCGS and RMH. 09/01/2020: This panel has been compared with the Genomics England PanelApp Haematuria panel; no discrepancies were identified.", "status": "public", "version": "1.2", "version_created": "2025-06-05T02:00:04.228914+10:00", "relevant_disorders": [ "Hematuria", "HP:0000790; Proteinuria", "HP:0000093" ], "stats": { "number_of_genes": 16, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1313", "EIEE9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14270", "gene_name": "protocadherin 19", "omim_gene": [ "300460" ], "alias_name": null, "gene_symbol": "PCDH19", "hgnc_symbol": "PCDH19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:99546642-99665271", "ensembl_id": "ENSG00000165194" } }, "GRch38": { "90": { "location": "X:100291644-100410273", "ensembl_id": "ENSG00000165194" } } }, "hgnc_date_symbol_changed": "2001-02-02" }, "entity_type": "gene", "entity_name": "PCDH19", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 51, "hash_id": null, "name": "Autism", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.248", "version_created": "2026-03-19T12:51:18.584438+11:00", "relevant_disorders": [ "Autism", "HP:0000717" ], "stats": { "number_of_genes": 157, "number_of_strs": 0, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ISSX", "CT121", "EIEE1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18060", "gene_name": "aristaless related homeobox", "omim_gene": [ "300382" ], "alias_name": [ "cancer/testis antigen 121" ], "gene_symbol": "ARX", "hgnc_symbol": "ARX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:25021811-25034065", "ensembl_id": "ENSG00000004848" } }, "GRch38": { "90": { "location": "X:25003694-25016420", "ensembl_id": "ENSG00000004848" } } }, "hgnc_date_symbol_changed": "2002-02-11" }, "entity_type": "gene", "entity_name": "ARX", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 51, "hash_id": null, "name": "Autism", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.248", "version_created": "2026-03-19T12:51:18.584438+11:00", "relevant_disorders": [ "Autism", "HP:0000717" ], "stats": { "number_of_genes": 157, "number_of_strs": 0, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "WIP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12736", "gene_name": "WAS/WASL interacting protein family member 1", "omim_gene": [ "602357" ], "alias_name": null, "gene_symbol": "WIPF1", "hgnc_symbol": "WIPF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:175424300-175547644", "ensembl_id": "ENSG00000115935" } }, "GRch38": { "90": { "location": "2:174559572-174682916", "ensembl_id": "ENSG00000115935" } } }, "hgnc_date_symbol_changed": "2006-10-12" }, "entity_type": "gene", "entity_name": "WIPF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27742395", "11869681", "22231303", "14757742", "9405671" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Wiskott-Aldrich syndrome 2, MIM#\t614493" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 56, "hash_id": null, "name": "Bone Marrow Failure", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "Bone marrow failure (BMF) refers to the decreased production of one or more major haematopoietic lineages which leads to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.", "status": "public", "version": "1.141", "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": [ "hCaf1z" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15954", "gene_name": "target of EGR1, exonuclease", "omim_gene": [ "613931" ], "alias_name": null, "gene_symbol": "TOE1", "hgnc_symbol": "TOE1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:45805342-45809647", "ensembl_id": "ENSG00000132773" } }, "GRch38": { "90": { "location": "1:45339670-45343975", "ensembl_id": "ENSG00000132773" } } }, "hgnc_date_symbol_changed": "2001-08-24" }, "entity_type": "gene", "entity_name": "TOE1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28092684" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Pontocerebellar hypoplasia, type 7, MIM# 614969" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 72, "hash_id": null, "name": "Cerebellar and Pontocerebellar Hypoplasia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the panels used by VCGS and RMH and is a consensus panel maintained by both.", "status": "public", "version": "1.100", "version_created": "2026-04-02T11:42:58.167964+11:00", "relevant_disorders": [ "Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879" ], "stats": { "number_of_genes": 122, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Nav1.6", "NaCh6", "PN4", "CerIII", "CIAT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10596", "gene_name": "sodium voltage-gated channel alpha subunit 8", "omim_gene": [ "600702" ], "alias_name": null, "gene_symbol": "SCN8A", "hgnc_symbol": "SCN8A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:51984050-52206648", "ensembl_id": "ENSG00000196876" } }, "GRch38": { "90": { "location": "12:51590266-51812864", "ensembl_id": "ENSG00000196876" } } }, "hgnc_date_symbol_changed": "1995-08-23" }, "entity_type": "gene", "entity_name": "SCN8A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33528536", "32989326", "31904124" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cerebral Palsy", "Epileptic encephalopathy 13 MIM# 614558", "Cognitive impairment with or without cerebellar ataxia MIM# 614306" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4796", "gene_name": "3-hydroxyanthranilate 3,4-dioxygenase", "omim_gene": [ "604521" ], "alias_name": null, "gene_symbol": "HAAO", "hgnc_symbol": "HAAO", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:42994229-43019733", "ensembl_id": "ENSG00000162882" } }, "GRch38": { "90": { "location": "2:42767089-42792593", "ensembl_id": "ENSG00000162882" } } }, "hgnc_date_symbol_changed": "1999-12-14" }, "entity_type": "gene", "entity_name": "HAAO", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28792876", "33942433" ], "evidence": [ "Expert Review Green", "Expert list", "Literature" ], "phenotypes": [ "Vertebral, cardiac, renal, and limb defects syndrome 1, MIM#\t617660", "Atrial septal defect", "Hypoplastic left heart syndrome", "Aortic stenosis", "Mitral stenosis", "Tetralogy of fallot with complete atriventricular canal and pulmonary stenosis", "Lsvc and left pulmonary artery arising from the ductus arteriosus", "Shone syndrome with aortic coarctation" ], "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": null }, { "gene_data": { "alias": [ "CHED", "CDC2L", "KIAA1791" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1733", "gene_name": "cyclin dependent kinase 13", "omim_gene": [ "603309" ], "alias_name": [ "cholinesterase-related cell division controller" ], "gene_symbol": "CDK13", "hgnc_symbol": "CDK13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:39989636-40136733", "ensembl_id": "ENSG00000065883" } }, "GRch38": { "90": { "location": "7:39950037-40097134", "ensembl_id": "ENSG00000065883" } } }, "hgnc_date_symbol_changed": "2009-12-16" }, "entity_type": "gene", "entity_name": "CDK13", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29021403", "29393965", "30904094" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 76, "hash_id": null, "name": "Congenital Heart Defect", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.", "status": "public", "version": "0.534", "version_created": "2026-03-30T13:14:35.719896+11:00", "relevant_disorders": [ "Abnormal heart morphology HP:0001627" ], "stats": { "number_of_genes": 253, "number_of_strs": 1, "number_of_regions": 10 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ORF20", "TTDN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16002", "gene_name": "M-phase specific PLK1 interacting protein", "omim_gene": [ "609188" ], "alias_name": null, "gene_symbol": "MPLKIP", "hgnc_symbol": "MPLKIP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:40165622-40174258", "ensembl_id": "ENSG00000168303" } }, "GRch38": { "90": { "location": "7:40126023-40134659", "ensembl_id": "ENSG00000168303" } } }, "hgnc_date_symbol_changed": "2012-03-01" }, "entity_type": "gene", "entity_name": "MPLKIP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15645389", "16977596" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Trichothiodystrophy 4, nonphotosensitive, MIM# 234050", "MONDO:0021013" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 79, "hash_id": null, "name": "Chromosome Breakage Disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was created and is maintained by VCGS.\r\n\r\nChromosomal instability syndromes are a group of inherited disorders associated with chromosomal instability and breakage either spontaneously or in response to DNA damaging agents. They include ataxia telangiectasia, Bloom syndrome, Fanconi anaemia, Nijmegen breakage syndrome, immunodeficiency/centromeric instability/facial anomalies syndrome, Cockayne syndrome, trichothiodystrophy, xeroderma pigmentosum, DNA ligase I deficiency, and DNA recombinase repair defects.\r\n\r\nTypical features include impairment of growth, immunodeficiency, predisposition to infectious disease, and the risk of developing certain types of malignancies.", "status": "public", "version": "1.24", "version_created": "2025-10-16T15:58:38.818741+11:00", "relevant_disorders": [ "Chromosome breakage HP:0040012" ], "stats": { "number_of_genes": 60, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "L31" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10334", "gene_name": "ribosomal protein L31", "omim_gene": [ "617415" ], "alias_name": null, "gene_symbol": "RPL31", "hgnc_symbol": "RPL31", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:101618177-101640494", "ensembl_id": "ENSG00000071082" } }, "GRch38": { "90": { "location": "2:101001715-101024032", "ensembl_id": "ENSG00000071082" } } }, "hgnc_date_symbol_changed": "1990-06-11" }, "entity_type": "gene", "entity_name": "RPL31", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25042156", "25424902" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Diamond Blackfan anaemia" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 98, "hash_id": null, "name": "Diamond Blackfan anaemia", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nDiamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. Main features are:\r\n-normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow\r\n-growth retardation\r\n-craniofacial, upper limb, heart, and urinary system congenital malformations.\r\n\r\nIncreased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F are typical; however, there is significant variability.\r\n\r\nDBA is caused by variants in the large and small ribosomal protein genes. Deletions are common, and may not be reported as part of some NGS assays.\r\n\r\nPlease also refer to the Bone Marrow Failure, Chromosome Breakage Disorders, and Bleeding and Platelet disorders panels if a broader differential diagnosis is being considered.", "status": "public", "version": "1.16", "version_created": "2026-03-17T20:20:46.699102+11:00", "relevant_disorders": [ "Anemia", "HP:0001903; Abnormality of thumb morphology", "HP:0001172" ], "stats": { "number_of_genes": 28, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1503", "FLJ46675" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2948", "gene_name": "dynein axonemal heavy chain 2", "omim_gene": [ "603333" ], "alias_name": null, "gene_symbol": "DNAH2", "hgnc_symbol": "DNAH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:7620672-7737062", "ensembl_id": "ENSG00000183914" } }, "GRch38": { "90": { "location": "17:7717354-7833744", "ensembl_id": "ENSG00000183914" } } }, "hgnc_date_symbol_changed": "1995-11-15" }, "entity_type": "gene", "entity_name": "DNAH2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32732226" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Hydrops", "complex congenital heart disease", "heterotaxy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 108, "hash_id": null, "name": "Heterotaxy", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Laterality disorders and isomerism' panel V1.19, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.45", "version_created": "2026-03-17T16:09:39.911604+11:00", "relevant_disorders": [ "Heterotaxy", "HP:0030853; Dextrocardia", "HP:0001651; Asplenia", "HP:0001746; Abnormal spatial orientation of cardiac segments", "HP:0011534; Polysplenia", "HP:0001748;Midline liver", "HP:0034188" ], "stats": { "number_of_genes": 67, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8858", "gene_name": "peroxisomal biogenesis factor 3", "omim_gene": [ "603164" ], "alias_name": null, "gene_symbol": "PEX3", "hgnc_symbol": "PEX3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:143771944-143811147", "ensembl_id": "ENSG00000034693" } }, "GRch38": { "90": { "location": "6:143450807-143490010", "ensembl_id": "ENSG00000034693" } } }, "hgnc_date_symbol_changed": "1998-10-21" }, "entity_type": "gene", "entity_name": "PEX3", "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": 116, "hash_id": null, "name": "Hydrops fetalis", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.", "status": "public", "version": "0.328", "version_created": "2025-07-08T23:27:02.854141+10:00", "relevant_disorders": [ "Hydrops fetalis", "HP:0001789" ], "stats": { "number_of_genes": 169, "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": [ "NAPI-3", "NPTIIa", "SLC11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11019", "gene_name": "solute carrier family 34 member 1", "omim_gene": [ "182309" ], "alias_name": [ "sodium/phosphate co-transporter", "solute carrier family 17 (sodium phosphate), member 2", "Na+-phosphate cotransporter type II" ], "gene_symbol": "SLC34A1", "hgnc_symbol": "SLC34A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:176806236-176825849", "ensembl_id": "ENSG00000131183" } }, "GRch38": { "90": { "location": "5:177379235-177398848", "ensembl_id": "ENSG00000131183" } } }, "hgnc_date_symbol_changed": "1994-05-25" }, "entity_type": "gene", "entity_name": "SLC34A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26047794", "33516786", "33099630", "32866123", "31188746", "30943683" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypercalcaemia, infantile, 2 MIM#616963" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 117, "hash_id": null, "name": "Hypercalcaemia", "disease_group": "Endocrine disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and RMH. For all disorders associated with abnormalities in calcium metabolism the Calcium and Phosphate disorders panel is recommended.\r\n\r\nWilliams syndrome is a relatively common cause of hypercalcaemia in infants and should be excluded first using chromosomal microarray (CMA).", "status": "public", "version": "1.2", "version_created": "2023-01-03T17:40:50.155481+11:00", "relevant_disorders": [ "Hypercalcemia", "HP:0003072" ], "stats": { "number_of_genes": 12, "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" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CDGS", "CDG1a", "PMI", "PMI1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9115", "gene_name": "phosphomannomutase 2", "omim_gene": [ "601785" ], "alias_name": [ "phosphomannose isomerase 1", "mannose-6-phosphate isomerase" ], "gene_symbol": "PMM2", "hgnc_symbol": "PMM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:8882680-8943188", "ensembl_id": "ENSG00000140650" } }, "GRch38": { "90": { "location": "16:8788823-8849331", "ensembl_id": "ENSG00000140650" } } }, "hgnc_date_symbol_changed": "1997-05-22" }, "entity_type": "gene", "entity_name": "PMM2", "confidence_level": "1", "penetrance": "Incomplete", "mode_of_pathogenicity": null, "publications": [ "36773065" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Congenital disorder of glycosylation, type Ia, MIM#\t212065", "Inflammatory bowel disease, hyperinsulinism, polycystic kidney disease" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 123, "hash_id": null, "name": "Inflammatory bowel disease", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.126", "version_created": "2025-10-16T15:50:33.114198+11:00", "relevant_disorders": [ "Gastrointestinal inflammation", "HP:0004386" ], "stats": { "number_of_genes": 85, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "p47phox", "NOXO2", "NCF1A", "SH3PXD1A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7660", "gene_name": "neutrophil cytosolic factor 1", "omim_gene": [ "608512" ], "alias_name": [ "NADPH oxidase organizer 2", "chronic granulomatous disease, autosomal 1" ], "gene_symbol": "NCF1", "hgnc_symbol": "NCF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:74188309-74203659", "ensembl_id": "ENSG00000158517" } }, "GRch38": { "90": { "location": "7:74773962-74789315", "ensembl_id": "ENSG00000158517" } } }, "hgnc_date_symbol_changed": "1989-05-25" }, "entity_type": "gene", "entity_name": "NCF1", "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": [ "p22-PHOX" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2577", "gene_name": "cytochrome b-245 alpha chain", "omim_gene": [ "608508" ], "alias_name": [ "flavocytochrome b-558 alpha polypeptide" ], "gene_symbol": "CYBA", "hgnc_symbol": "CYBA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:88709691-88717560", "ensembl_id": "ENSG00000051523" } }, "GRch38": { "90": { "location": "16:88643283-88651152", "ensembl_id": "ENSG00000051523" } } }, "hgnc_date_symbol_changed": "1990-01-15" }, "entity_type": "gene", "entity_name": "CYBA", "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": [ "PGP9.5", "Uch-L1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12513", "gene_name": "ubiquitin C-terminal hydrolase L1", "omim_gene": [ "191342" ], "alias_name": [ "ubiquitin thiolesterase" ], "gene_symbol": "UCHL1", "hgnc_symbol": "UCHL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:41258430-41270472", "ensembl_id": "ENSG00000154277" } }, "GRch38": { "90": { "location": "4:41256413-41268455", "ensembl_id": "ENSG00000154277" } } }, "hgnc_date_symbol_changed": "1991-07-15" }, "entity_type": "gene", "entity_name": "UCHL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23359680", "3340629", "28007905", "32656641", "29735986", "28007905", "35986737" ], "evidence": [ "Expert Review Green", "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spastic paraplegia 79A, autosomal dominant, MIM# 620221", "Spastic paraplegia 79, autosomal recessive, MIM# 615491", "MONDO:0014209", "Neurodegenerative disease, MONDO:0005559, UCHL1-related" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [ "for review" ], "panel": { "id": 126, "hash_id": null, "name": "Incidentalome", "disease_group": "", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).", "status": "public", "version": "0.433", "version_created": "2026-03-25T17:03:27.624542+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 161, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PCDC5RP", "hCDC5", "CEF1", "CDC5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1743", "gene_name": "cell division cycle 5 like", "omim_gene": [ "602868" ], "alias_name": null, "gene_symbol": "CDC5L", "hgnc_symbol": "CDC5L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:44355262-44418163", "ensembl_id": "ENSG00000096401" } }, "GRch38": { "90": { "location": "6:44387525-44450426", "ensembl_id": "ENSG00000096401" } } }, "hgnc_date_symbol_changed": "1997-08-28" }, "entity_type": "gene", "entity_name": "CDC5L", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24429398" ], "evidence": [ "Expert list", "Expert Review Red", "Expert Review Red", "Expert list" ], "phenotypes": [ "Congenital abnormalities of the kidneys and urinary tract" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "OF", "BACH1", "FANCJ" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20473", "gene_name": "BRCA1 interacting protein C-terminal helicase 1", "omim_gene": [ "605882" ], "alias_name": [ "BRCA1/BRCA2-associated helicase 1" ], "gene_symbol": "BRIP1", "hgnc_symbol": "BRIP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:59758627-59940882", "ensembl_id": "ENSG00000136492" } }, "GRch38": { "90": { "location": "17:61681266-61863521", "ensembl_id": "ENSG00000136492" } } }, "hgnc_date_symbol_changed": "2003-04-11" }, "entity_type": "gene", "entity_name": "BRIP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27107905" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Fanconi anaemia, complementation group J, MIM# 609054" ], "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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0384", "p120", "p120cas", "p120ctn" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2515", "gene_name": "catenin delta 1", "omim_gene": [ "601045" ], "alias_name": null, "gene_symbol": "CTNND1", "hgnc_symbol": "CTNND1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:57520715-57587018", "ensembl_id": "ENSG00000198561" } }, "GRch38": { "90": { "location": "11:57753243-57819546", "ensembl_id": "ENSG00000198561" } } }, "hgnc_date_symbol_changed": "1995-09-18" }, "entity_type": "gene", "entity_name": "CTNND1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28301459", "32196547" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Blepharocheilodontic syndrome 2, MIM#\t617681" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "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": "", "publications": [ "24870241" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Immunodeficiency 24, MIM# 615897", "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": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SAP-3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4367", "gene_name": "GM2 ganglioside activator", "omim_gene": [ "613109" ], "alias_name": [ "cerebroside sulfate activator protein", "sphingolipid activator protein 3" ], "gene_symbol": "GM2A", "hgnc_symbol": "GM2A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:150591711-150650001", "ensembl_id": "ENSG00000196743" } }, "GRch38": { "90": { "location": "5:151212150-151270440", "ensembl_id": "ENSG00000196743" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "GM2A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28417072", "28192816", "27402091", "33819415" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "GM2-gangliosidosis, AB variant MIM#272750" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HDCMC04P" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18541", "gene_name": "lysine methyltransferase 2E", "omim_gene": [ "608444" ], "alias_name": null, "gene_symbol": "KMT2E", "hgnc_symbol": "KMT2E", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:104654626-104754808", "ensembl_id": "ENSG00000005483" } }, "GRch38": { "90": { "location": "7:105014179-105114361", "ensembl_id": "ENSG00000005483" } } }, "hgnc_date_symbol_changed": "2013-05-09" }, "entity_type": "gene", "entity_name": "KMT2E", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31079897" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "O'Donnell-Luria-Rodan syndrome, MIM# 618512" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7820", "gene_name": "NHS actin remodeling regulator", "omim_gene": [ "300457" ], "alias_name": null, "gene_symbol": "NHS", "hgnc_symbol": "NHS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:17393543-17754114", "ensembl_id": "ENSG00000188158" } }, "GRch38": { "90": { "location": "X:17375420-17735994", "ensembl_id": "ENSG00000188158" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "NHS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31755796", "25266737" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Nance-Horan syndrome - MIM#302350", "Cataract 40, X-linked - MIM#302200" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ14917" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21061", "gene_name": "serine active site containing 1", "omim_gene": [ "614725" ], "alias_name": null, "gene_symbol": "SERAC1", "hgnc_symbol": "SERAC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:158530536-158589312", "ensembl_id": "ENSG00000122335" } }, "GRch38": { "90": { "location": "6:158109515-158168270", "ensembl_id": "ENSG00000122335" } } }, "hgnc_date_symbol_changed": "2003-05-12" }, "entity_type": "gene", "entity_name": "SERAC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29205472", "32684373", "24741715" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0650", "FSHD2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29090", "gene_name": "structural maintenance of chromosomes flexible hinge domain containing 1", "omim_gene": [ "614982" ], "alias_name": null, "gene_symbol": "SMCHD1", "hgnc_symbol": "SMCHD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:2655737-2805015", "ensembl_id": "ENSG00000101596" } }, "GRch38": { "90": { "location": "18:2655738-2805017", "ensembl_id": "ENSG00000101596" } } }, "hgnc_date_symbol_changed": "2005-03-22" }, "entity_type": "gene", "entity_name": "SMCHD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "31600781", "28067909" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Bosma arhinia microphthalmia syndrome, MIM 603457", "Arhinia, choanal atresia, microphthalmia MONDO:0011323", "Fascioscapulohumeral muscular dystrophy 2, digenic" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "C2H2-171", "TAZ-1", "RP58" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13030", "gene_name": "zinc finger and BTB domain containing 18", "omim_gene": [ "608433" ], "alias_name": null, "gene_symbol": "ZBTB18", "hgnc_symbol": "ZBTB18", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:244214585-244220778", "ensembl_id": "ENSG00000179456" } }, "GRch38": { "90": { "location": "1:244048939-244057476", "ensembl_id": "ENSG00000179456" } } }, "hgnc_date_symbol_changed": "2013-01-09" }, "entity_type": "gene", "entity_name": "ZBTB18", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "27598823", "29573576" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mental retardation, autosomal dominant 22, MIM# 612337" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "AADC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2719", "gene_name": "dopa decarboxylase", "omim_gene": [ "107930" ], "alias_name": [ "aromatic L-amino acid decarboxylase" ], "gene_symbol": "DDC", "hgnc_symbol": "DDC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:50526134-50633154", "ensembl_id": "ENSG00000132437" } }, "GRch38": { "90": { "location": "7:50458436-50565457", "ensembl_id": "ENSG00000132437" } } }, "hgnc_date_symbol_changed": "1991-06-03" }, "entity_type": "gene", "entity_name": "DDC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20505134" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Aromatic L-amino acid decarboxylase deficiency, MIM# 608643" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "clinical trial" ], "panel": { "id": 145, "hash_id": null, "name": "Neurotransmitter Defects", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe panel contains genes associated with neurotransmitter disorders, a heterogeneous group of disorders involving defects in the metabolism of monoamines (dopamine, norepinephrine, epinephrine and serotonin), GABA and glycine. The clinical presentations were highly variable, and may include seizures, neurodevelopmental delay, movement disorders, gait abnormalities, hypotonia, autonomic features. Measurement of neurotransmitter metabolites in cerebral spinal fluid (CSF) may be helpful in delineating the metabolic defects.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Neurotransmitter disorders' panel V1.6 with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.8", "version_created": "2026-01-09T20:59:22.980216+11:00", "relevant_disorders": [ "Abnormal CSF metabolite concentration", "HP:0025454" ], "stats": { "number_of_genes": 41, "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": [ "FLJ22688", "Fy" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26219", "gene_name": "fuzzy planar cell polarity protein", "omim_gene": [ "610622" ], "alias_name": null, "gene_symbol": "FUZ", "hgnc_symbol": "FUZ", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:50310126-50320633", "ensembl_id": "ENSG00000010361" } }, "GRch38": { "90": { "location": "19:49806869-49817376", "ensembl_id": "ENSG00000010361" } } }, "hgnc_date_symbol_changed": "2006-06-21" }, "entity_type": "gene", "entity_name": "FUZ", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38702430, 29068549, 34719684" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Ciliopathy_MONDO_0005308, FUZ-related", "skeletal ciliopathy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 179, "hash_id": null, "name": "Skeletal Ciliopathies", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. \r\n\r\nThis panel contains genes associated with skeletal ciliopathies (including short rib polydactyly and jeune asphyxiating thoracic dystrophy).\r\n\r\nIt has been compared against the Genomics England PanelApp Skeletal Ciliopathy panel, with all differences resolved and reciprocal feedback provided to Genomics England, 24/05/2020.\r\n\r\nConsider applying the broader Skeletal Dysplasia panel if the clinical presentation is not entirely typical of a skeletal ciliopathy.", "status": "public", "version": "1.23", "version_created": "2026-02-26T20:48:41.390236+11:00", "relevant_disorders": [ "Short rib", "HP:0000773; Polydactyly", "HP:0010442; Bell-shaped thorax", "HP:0001591" ], "stats": { "number_of_genes": 37, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GALA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4296", "gene_name": "galactosidase alpha", "omim_gene": [ "300644" ], "alias_name": null, "gene_symbol": "GLA", "hgnc_symbol": "GLA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:100652791-100662913", "ensembl_id": "ENSG00000102393" } }, "GRch38": { "90": { "location": "X:101397803-101407925", "ensembl_id": "ENSG00000102393" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "GLA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28613767", "33673160" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Fabry disease, MIM# 301500", "MONDO:0010526" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 181, "hash_id": null, "name": "Lysosomal Storage Disorder", "disease_group": "Metabolic conditions", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe lysosomal storage diseases are a group of progressive metabolic disorders that are caused by enzyme deficiencies within the lysosome. The abnormal storage process leads to a broad spectrum of somatic and/or neurological clinical manifestations depending on the specific substrate and site of accumulation. Examples include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses.\r\n\r\nIf the clinical presentation is not specific for a lysosomal storage disorder, please consider the broader Metabolic Disorders Superpanel.", "status": "public", "version": "1.31", "version_created": "2026-03-31T16:05:25.488597+11:00", "relevant_disorders": [ "Lysosomal storage disorder", "MONDO:0002561; Visceromegaly", "HP:0003271" ], "stats": { "number_of_genes": 80, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC1203", "RP4-622L5.5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28163", "gene_name": "coiled-coil domain containing 28B", "omim_gene": [ "610162" ], "alias_name": null, "gene_symbol": "CCDC28B", "hgnc_symbol": "CCDC28B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:32665987-32670988", "ensembl_id": "ENSG00000160050" } }, "GRch38": { "90": { "location": "1:32200386-32205387", "ensembl_id": "ENSG00000160050" } } }, "hgnc_date_symbol_changed": "2005-09-12" }, "entity_type": "gene", "entity_name": "CCDC28B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "KidGen_CilioNephronop v38.1.0" ], "phenotypes": [ "{Bardet-Biedl syndrome 1, modifier of}, MIM#209900" ], "mode_of_inheritance": "Other", "tags": [], "panel": { "id": 193, "hash_id": null, "name": "Renal Ciliopathies and Nephronophthisis", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen", "status": "public", "version": "1.53", "version_created": "2026-03-19T17:14:29.802874+11:00", "relevant_disorders": [ "Abnormality of renal medullary morphology", "HP:0025361; Renal cyst", "HP:0000107" ], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "O-GLCNAC", "HRNT1", "MGC22921", "FLJ23071", "OGT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8127", "gene_name": "O-linked N-acetylglucosamine (GlcNAc) transferase", "omim_gene": [ "300255" ], "alias_name": [ "UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase" ], "gene_symbol": "OGT", "hgnc_symbol": "OGT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:70752933-70795747", "ensembl_id": "ENSG00000147162" } }, "GRch38": { "90": { "location": "X:71533083-71575897", "ensembl_id": "ENSG00000147162" } } }, "hgnc_date_symbol_changed": "1998-12-03" }, "entity_type": "gene", "entity_name": "OGT", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 28302723", "28584052", "31296563", "31627256", "29769320", "29606577", "29769320", "37334838" ], "evidence": [ "Expert Review Red", "Literature", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Intellectual developmental disorder, X-linked 106\tMIM#300997" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": [ "bA346K17.2", "GAB1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15791", "gene_name": "phosphatidylinositol glycan anchor biosynthesis class U", "omim_gene": [ "608528" ], "alias_name": [ "GPI transamidase subunit" ], "gene_symbol": "PIGU", "hgnc_symbol": "PIGU", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:33148346-33264910", "ensembl_id": "ENSG00000101464" } }, "GRch38": { "90": { "location": "20:34560542-34698790", "ensembl_id": "ENSG00000101464" } } }, "hgnc_date_symbol_changed": "2006-11-07" }, "entity_type": "gene", "entity_name": "PIGU", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31353022" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Glycosylphosphatidylinositol biosynthesis defect 21", "OMIM #618590" ], "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": [ "SBBI88", "Mg11", "HDDC1", "MOP-5", "AGS5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15925", "gene_name": "SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1", "omim_gene": [ "606754" ], "alias_name": [ "HD domain containing 1", "monocyte protein 5", "Aicardi-Goutieres syndrome 5" ], "gene_symbol": "SAMHD1", "hgnc_symbol": "SAMHD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:35518632-35580246", "ensembl_id": "ENSG00000101347" } }, "GRch38": { "90": { "location": "20:36890229-36951843", "ensembl_id": "ENSG00000101347" } } }, "hgnc_date_symbol_changed": "2001-07-31" }, "entity_type": "gene", "entity_name": "SAMHD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19525956", "21102625", "33307271", "20301648" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Aicardi-Goutieres syndrome 5, MIM# 612952" ], "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": [ "DPCK", "NBP", "CoASY", "PPAT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29932", "gene_name": "Coenzyme A synthase", "omim_gene": [ "609855" ], "alias_name": null, "gene_symbol": "COASY", "hgnc_symbol": "COASY", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:40713485-40718295", "ensembl_id": "ENSG00000068120" } }, "GRch38": { "90": { "location": "17:42561467-42566277", "ensembl_id": "ENSG00000068120" } } }, "hgnc_date_symbol_changed": "2004-03-22" }, "entity_type": "gene", "entity_name": "COASY", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25778941", "24360804", "30089828", "28489334" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Literature", "NHS GMS" ], "phenotypes": [ "Neurodegeneration with brain iron accumulation 6 MIM#615643", "Pontocerebellar hypoplasia, type 12 MIM#618266" ], "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": [ "FLJ20432", "MRPP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26022", "gene_name": "tRNA methyltransferase 10C, mitochondrial RNase P subunit", "omim_gene": [ "615423" ], "alias_name": [ "mitochondrial RNase P subunit 1" ], "gene_symbol": "TRMT10C", "hgnc_symbol": "TRMT10C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:101280706-101285290", "ensembl_id": "ENSG00000174173" } }, "GRch38": { "90": { "location": "3:101561862-101566446", "ensembl_id": "ENSG00000174173" } } }, "hgnc_date_symbol_changed": "2012-06-28" }, "entity_type": "gene", "entity_name": "TRMT10C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27132592", "33886802" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Mitochondrial Flagship" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 30, MIM# 616974" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 203, "hash_id": null, "name": "Mitochondrial disease", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.", "status": "public", "version": "1.16", "version_created": "2026-03-13T18:22:35.610861+11:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 438, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PAP-A", "PAPA", "PAPA1", "PAPB", "ACLS", "PPDIV" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4319", "gene_name": "GLI family zinc finger 3", "omim_gene": [ "165240" ], "alias_name": [ "zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein" ], "gene_symbol": "GLI3", "hgnc_symbol": "GLI3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:42000548-42277469", "ensembl_id": "ENSG00000106571" } }, "GRch38": { "90": { "location": "7:41960950-42237870", "ensembl_id": "ENSG00000106571" } } }, "hgnc_date_symbol_changed": "1989-05-29" }, "entity_type": "gene", "entity_name": "GLI3", "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:620", "gene_name": "amyloid beta precursor protein", "omim_gene": [ "104760" ], "alias_name": [ "peptidase nexin-II" ], "gene_symbol": "APP", "hgnc_symbol": "APP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:27252861-27543446", "ensembl_id": "ENSG00000142192" } }, "GRch38": { "90": { "location": "21:25880550-26171128", "ensembl_id": "ENSG00000142192" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "APP", "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": [ "KALIG-1", "WFDC19" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6211", "gene_name": "anosmin 1", "omim_gene": [ "300836" ], "alias_name": [ "anosmin-1", "WAP four-disulfide core domain 19", "Adhesion molecule-like, X-linked", "Kallmann syndrome interval gene 1" ], "gene_symbol": "ANOS1", "hgnc_symbol": "ANOS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:8496915-8700227", "ensembl_id": "ENSG00000011201" } }, "GRch38": { "90": { "location": "X:8528874-8732186", "ensembl_id": "ENSG00000011201" } } }, "hgnc_date_symbol_changed": "2015-04-10" }, "entity_type": "gene", "entity_name": "ANOS1", "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": [ "DDP", "MTS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11817", "gene_name": "translocase of inner mitochondrial membrane 8A", "omim_gene": [ "300356" ], "alias_name": null, "gene_symbol": "TIMM8A", "hgnc_symbol": "TIMM8A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:100600649-100604184", "ensembl_id": "ENSG00000126953" } }, "GRch38": { "90": { "location": "X:101345661-101349196", "ensembl_id": "ENSG00000126953" } } }, "hgnc_date_symbol_changed": "1999-12-01" }, "entity_type": "gene", "entity_name": "TIMM8A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 206, "hash_id": null, "name": "Regression", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.611", "version_created": "2026-04-07T13:48:08.700916+10:00", "relevant_disorders": [ "Developmental regression", "HP:0002376" ], "stats": { "number_of_genes": 442, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:29160", "gene_name": "FAST kinase domains 2", "omim_gene": [ "612322" ], "alias_name": null, "gene_symbol": "FASTKD2", "hgnc_symbol": "FASTKD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:207630081-207657233", "ensembl_id": "ENSG00000118246" } }, "GRch38": { "90": { "location": "2:206765357-206792509", "ensembl_id": "ENSG00000118246" } } }, "hgnc_date_symbol_changed": "2006-07-07" }, "entity_type": "gene", "entity_name": "FASTKD2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 206, "hash_id": null, "name": "Regression", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.611", "version_created": "2026-04-07T13:48:08.700916+10:00", "relevant_disorders": [ "Developmental regression", "HP:0002376" ], "stats": { "number_of_genes": 442, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:870", "gene_name": "ATPase copper transporting beta", "omim_gene": [ "606882" ], "alias_name": [ "Wilson disease", "copper pump 2", "copper-transporting ATPase 2" ], "gene_symbol": "ATP7B", "hgnc_symbol": "ATP7B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:52506809-52585630", "ensembl_id": "ENSG00000123191" } }, "GRch38": { "90": { "location": "13:51930436-52012125", "ensembl_id": "ENSG00000123191" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ATP7B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance" ], "phenotypes": [ "Wilson disease, MIM# 277900" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 221, "hash_id": null, "name": "Additional findings_Adult", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.", "status": "public", "version": "2.0", "version_created": "2026-03-16T10:56:03.168206+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 136, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SLP65", "Ly57", "SLP-65", "BLNK-s", "BASH", "bca" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14211", "gene_name": "B-cell linker", "omim_gene": [ "604515" ], "alias_name": [ "B-cell adapter containing a SH2 domain protein", "B-cell activation", "Src homology [SH2] domain-containing leukocyte protein of 65 kD", "B cell adaptor containing SH2 domain" ], "gene_symbol": "BLNK", "hgnc_symbol": "BLNK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:97951458-98031344", "ensembl_id": "ENSG00000095585" } }, "GRch38": { "90": { "location": "10:96191702-96271587", "ensembl_id": "ENSG00000095585" } } }, "hgnc_date_symbol_changed": "2001-07-16" }, "entity_type": "gene", "entity_name": "BLNK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10583958", "32194234", "25893637" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Agammaglobulinaemia 4, MIM# 613502" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 222, "hash_id": null, "name": "Predominantly Antibody Deficiency", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause predominantly antibody deficiency, including:\r\n- Agammaglobulinemia\r\n- Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia \r\n- CVID Phenotype\r\n- Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype\r\n- Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM\r\n- Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells\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": "1.4", "version_created": "2025-09-11T18:11:50.640122+10:00", "relevant_disorders": [ "Decreased immunoglobulin level", "HP:0041078" ], "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" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC14288" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28216", "gene_name": "COX14, cytochrome c oxidase assembly factor", "omim_gene": [ "614478" ], "alias_name": null, "gene_symbol": "COX14", "hgnc_symbol": "COX14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:50505762-50514240", "ensembl_id": "ENSG00000178449" } }, "GRch38": { "90": { "location": "12:50111979-50120457", "ensembl_id": "ENSG00000178449" } } }, "hgnc_date_symbol_changed": "2012-02-23" }, "entity_type": "gene", "entity_name": "COX14", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22243966" ], "evidence": [ "Expert Review Amber", "Genetic Health Queensland" ], "phenotypes": [ "Mitochondrial complex IV deficiency, nuclear type 10, MIM#619053" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4087", "gene_name": "gamma-aminobutyric acid type A receptor gamma2 subunit", "omim_gene": [ "137164" ], "alias_name": [ "GABA(A) receptor, gamma 2" ], "gene_symbol": "GABRG2", "hgnc_symbol": "GABRG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:161494546-161582542", "ensembl_id": "ENSG00000113327" } }, "GRch38": { "90": { "location": "5:162000057-162162977", "ensembl_id": "ENSG00000113327" } } }, "hgnc_date_symbol_changed": "1991-02-26" }, "entity_type": "gene", "entity_name": "GABRG2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11326274", "11326275", "27864268" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 74 618396", "Epilepsy, generalized, with febrile seizures plus, type 3 607681" ], "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": [ "KIAA0732", "SMG-6", "EST1A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17809", "gene_name": "SMG6, nonsense mediated mRNA decay factor", "omim_gene": [ "610963" ], "alias_name": [ "EST1 telomerase component homolog A (S. cerevisiae)" ], "gene_symbol": "SMG6", "hgnc_symbol": "SMG6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:1963133-2207065", "ensembl_id": "ENSG00000070366" } }, "GRch38": { "90": { "location": "17:2059839-2303771", "ensembl_id": "ENSG00000070366" } } }, "hgnc_date_symbol_changed": "2006-02-16" }, "entity_type": "gene", "entity_name": "SMG6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ16566" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30595", "gene_name": "protein phosphatase 1 regulatory subunit 21", "omim_gene": null, "alias_name": null, "gene_symbol": "PPP1R21", "hgnc_symbol": "PPP1R21", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:48667737-48742525", "ensembl_id": "ENSG00000162869" } }, "GRch38": { "90": { "location": "2:48440598-48515391", "ensembl_id": "ENSG00000162869" } } }, "hgnc_date_symbol_changed": "2011-10-11" }, "entity_type": "gene", "entity_name": "PPP1R21", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30520571" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Hypotonia", "intellectual disability", "white matter abnormalities" ], "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": [ "PIR121" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13760", "gene_name": "cytoplasmic FMR1 interacting protein 2", "omim_gene": [ "606323" ], "alias_name": [ "p53 inducible protein" ], "gene_symbol": "CYFIP2", "hgnc_symbol": "CYFIP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:156693089-156822606", "ensembl_id": "ENSG00000055163" } }, "GRch38": { "90": { "location": "5:157266079-157395595", "ensembl_id": "ENSG00000055163" } } }, "hgnc_date_symbol_changed": "2002-05-23" }, "entity_type": "gene", "entity_name": "CYFIP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29534297", "30664714" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 65, MIM#618008", "Intellectual disability" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "gamma-BBH", "G-BBH", "BBH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:964", "gene_name": "gamma-butyrobetaine hydroxylase 1", "omim_gene": [ "603312" ], "alias_name": null, "gene_symbol": "BBOX1", "hgnc_symbol": "BBOX1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:27062272-27149356", "ensembl_id": "ENSG00000129151" } }, "GRch38": { "90": { "location": "11:27040725-27127809", "ensembl_id": "ENSG00000129151" } } }, "hgnc_date_symbol_changed": "1999-02-26" }, "entity_type": "gene", "entity_name": "BBOX1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41022783" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Carnitine deficiency, MONDO:0017716, BBOX1-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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6827", "gene_name": "mannosidase alpha class 2C member 1", "omim_gene": [ "154580" ], "alias_name": null, "gene_symbol": "MAN2C1", "hgnc_symbol": "MAN2C1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:75648133-75660971", "ensembl_id": "ENSG00000140400" } }, "GRch38": { "90": { "location": "15:75355207-75368630", "ensembl_id": "ENSG00000140400" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "MAN2C1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "6220608" ], "evidence": [ "Literature", "Expert list", "Expert Review Red" ], "phenotypes": [ "alpha-Mannosidosis" ], "mode_of_inheritance": "Unknown", "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": [ "CILD6", "SPTRX2", "NM23-H8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16473", "gene_name": "NME/NM23 family member 8", "omim_gene": [ "607421" ], "alias_name": [ "sperm-specific thioredoxin 2" ], "gene_symbol": "NME8", "hgnc_symbol": "NME8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:37888199-37940003", "ensembl_id": "ENSG00000086288" } }, "GRch38": { "90": { "location": "7:37848597-37900401", "ensembl_id": "ENSG00000086288" } } }, "hgnc_date_symbol_changed": "2012-05-18" }, "entity_type": "gene", "entity_name": "NME8", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Emory Genetics Laboratory" ], "phenotypes": [], "mode_of_inheritance": "", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:870", "gene_name": "ATPase copper transporting beta", "omim_gene": [ "606882" ], "alias_name": [ "Wilson disease", "copper pump 2", "copper-transporting ATPase 2" ], "gene_symbol": "ATP7B", "hgnc_symbol": "ATP7B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:52506809-52585630", "ensembl_id": "ENSG00000123191" } }, "GRch38": { "90": { "location": "13:51930436-52012125", "ensembl_id": "ENSG00000123191" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ATP7B", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32662046" ], "evidence": [ "Expert Review Amber", "Royal Children's Hospital Neurology Department", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Wilson disease, MIM# 277900" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 259, "hash_id": null, "name": "Paroxysmal Dyskinesia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.", "status": "public", "version": "0.145", "version_created": "2026-01-09T20:58:50.808183+11:00", "relevant_disorders": [ "Paroxysmal dyskinesia", "HP:0007166" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NTG", "KIAA0567", "FLJ12460", "NPG", "MGM1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8140", "gene_name": "OPA1, mitochondrial dynamin like GTPase", "omim_gene": [ "605290" ], "alias_name": [ "mitochondrial dynamin-like GTPase", "dynamin-like guanosine triphosphatase", "Dynamin-like 120 kDa protein, mitochondrial" ], "gene_symbol": "OPA1", "hgnc_symbol": "OPA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:193310933-193415612", "ensembl_id": "ENSG00000198836" } }, "GRch38": { "90": { "location": "3:193593144-193697823", "ensembl_id": "ENSG00000198836" } } }, "hgnc_date_symbol_changed": "1987-09-11" }, "entity_type": "gene", "entity_name": "OPA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30165240", "28494813" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "OPA1-related optic atrophy with or without extraocular features, MONDO:0800181" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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": [ "GroEL", "HSP60" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5261", "gene_name": "heat shock protein family D (Hsp60) member 1", "omim_gene": [ "118190" ], "alias_name": null, "gene_symbol": "HSPD1", "hgnc_symbol": "HSPD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:198351305-198381461", "ensembl_id": "ENSG00000144381" } }, "GRch38": { "90": { "location": "2:197486581-197516737", "ensembl_id": "ENSG00000144381" } } }, "hgnc_date_symbol_changed": "1991-07-19" }, "entity_type": "gene", "entity_name": "HSPD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Leukodystrophy, hypomyelinating, 4, MIM#\t612233", "Spastic paraplegia 13, autosomal dominant, MIM#\t605280" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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": [] }, { "gene_data": { "alias": [ "MTMR5", "DENND7A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10542", "gene_name": "SET binding factor 1", "omim_gene": [ "603560" ], "alias_name": [ "myotubularin related 5", "DENN/MADD domain containing 7A" ], "gene_symbol": "SBF1", "hgnc_symbol": "SBF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:50883429-50913454", "ensembl_id": "ENSG00000100241" } }, "GRch38": { "90": { "location": "22:50445000-50475024", "ensembl_id": "ENSG00000100241" } } }, "hgnc_date_symbol_changed": "1998-07-28" }, "entity_type": "gene", "entity_name": "SBF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23749797", "23749797", "32444983", "30039846", "28005197" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Charcot-Marie-Tooth disease, type 4B3 , MIM#615284", "MONDO:0014117" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7448", "gene_name": "myotubularin 1", "omim_gene": [ "300415" ], "alias_name": null, "gene_symbol": "MTM1", "hgnc_symbol": "MTM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:149737069-149841795", "ensembl_id": "ENSG00000171100" } }, "GRch38": { "90": { "location": "X:150568619-150673322", "ensembl_id": "ENSG00000171100" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "MTM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert Review Green", "Royal Melbourne Hospital", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Myotubular myopathy, X-linked, 310400" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0436" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30228", "gene_name": "prolyl endopeptidase-like", "omim_gene": [ "609557" ], "alias_name": null, "gene_symbol": "PREPL", "hgnc_symbol": "PREPL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:44543420-44589001", "ensembl_id": "ENSG00000138078" } }, "GRch38": { "90": { "location": "2:44316281-44361862", "ensembl_id": "ENSG00000138078" } } }, "hgnc_date_symbol_changed": "2005-02-25" }, "entity_type": "gene", "entity_name": "PREPL", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29483676", "28726805", "24610330", "27472506" ], "evidence": [ "Expert Review Amber", "Royal Melbourne Hospital" ], "phenotypes": [ "congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency", "?Myasthenic syndrome, congenital, 22, 616224" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3078, "hash_id": null, "name": "Congenital Myasthenia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the Congenital Myasthenia panels developed by the Royal Melbourne Hospital and by the Victorian Clinical Genetics Services.\r\n\r\nThis panel has been compared against the Genomics England 'Congenital myasthenic syndrome' panel V2.2, with all discrepancies resolved and reciprocal provided to Genomics England.", "status": "public", "version": "1.20", "version_created": "2026-01-02T17:01:50.322172+11:00", "relevant_disorders": [ "Fatiguable weakness HP:0003473;Hypotonia HP:0001252" ], "stats": { "number_of_genes": 37, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8925", "gene_name": "phosphorylase kinase regulatory subunit alpha 1", "omim_gene": [ "311870" ], "alias_name": null, "gene_symbol": "PHKA1", "hgnc_symbol": "PHKA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:71798664-71934167", "ensembl_id": "ENSG00000067177" } }, "GRch38": { "90": { "location": "X:72578814-72714319", "ensembl_id": "ENSG00000067177" } } }, "hgnc_date_symbol_changed": "1989-02-23" }, "entity_type": "gene", "entity_name": "PHKA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "7874115", "12825073", "9731190" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Muscle glycogenosis, MIM# 300559" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3084, "hash_id": null, "name": "Rhabdomyolysis and Metabolic Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nDepending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.46", "version_created": "2026-03-31T19:05:14.301918+11:00", "relevant_disorders": [ "Rhabdomyolysis", "HP:0003201;Exercise intolerance", "HP:0003546;Metabolic myopathy", "MONDO:0020123" ], "stats": { "number_of_genes": 124, "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": [ "MTP1", "IREG1", "FPN1", "HFE4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10909", "gene_name": "solute carrier family 40 member 1", "omim_gene": [ "604653" ], "alias_name": [ "ferroportin 1" ], "gene_symbol": "SLC40A1", "hgnc_symbol": "SLC40A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:190425305-190448484", "ensembl_id": "ENSG00000138449" } }, "GRch38": { "90": { "location": "2:189560579-189583758", "ensembl_id": "ENSG00000138449" } } }, "hgnc_date_symbol_changed": "2003-06-05" }, "entity_type": "gene", "entity_name": "SLC40A1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "34601591", "33341511", "2258529" ], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "Hemochromatosis, type 4, MIM# 606069" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3093, "hash_id": null, "name": "Monogenic Diabetes", "disease_group": "Endocrine disorders", "disease_sub_group": "", "description": "This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).", "status": "public", "version": "0.224", "version_created": "2026-04-06T18:03:06.439122+10:00", "relevant_disorders": [ "Diabetes mellitus", "HP:0000819" ], "stats": { "number_of_genes": 109, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "COD5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9936", "gene_name": "opsin 1, long wave sensitive", "omim_gene": [ "300822" ], "alias_name": [ "cone dystrophy 5 (X-linked)" ], "gene_symbol": "OPN1LW", "hgnc_symbol": "OPN1LW", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153409698-153424507", "ensembl_id": "ENSG00000102076" } }, "GRch38": { "90": { "location": "X:154144224-154159032", "ensembl_id": "ENSG00000102076" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "OPN1LW", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Mackenzie's Mission" ], "phenotypes": [ "Blue cone monochromacy, MIM#303700", "Colorblindness, protan, MIM#303900" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "EAD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2226", "gene_name": "collagen like tail subunit of asymmetric acetylcholinesterase", "omim_gene": [ "603033" ], "alias_name": [ "single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase", "collagenic tail of endplate acetylcholinesterase", "AChE Q subunit", "acetylcholinesterase-associated collagen" ], "gene_symbol": "COLQ", "hgnc_symbol": "COLQ", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:15491640-15563258", "ensembl_id": "ENSG00000206561" } }, "GRch38": { "90": { "location": "3:15450133-15521751", "ensembl_id": "ENSG00000206561" } } }, "hgnc_date_symbol_changed": "1998-09-14" }, "entity_type": "gene", "entity_name": "COLQ", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Myasthenic syndrome, congenital, 5, 603034 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "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": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Cerebral creatine deficiency syndrome 2, 612736 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "bA504H3.4", "DDK1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16205", "gene_name": "mitochondrial genome maintenance exonuclease 1", "omim_gene": [ "615076" ], "alias_name": null, "gene_symbol": "MGME1", "hgnc_symbol": "MGME1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:17949556-17971765", "ensembl_id": "ENSG00000125871" } }, "GRch38": { "90": { "location": "20:17968913-17991122", "ensembl_id": "ENSG00000125871" } } }, "hgnc_date_symbol_changed": "2013-01-11" }, "entity_type": "gene", "entity_name": "MGME1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Mitochondrial DNA depletion syndrome 11, 615084 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PXAAA1", "PAF-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8859", "gene_name": "peroxisomal biogenesis factor 6", "omim_gene": [ "601498" ], "alias_name": null, "gene_symbol": "PEX6", "hgnc_symbol": "PEX6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:42931608-42946958", "ensembl_id": "ENSG00000124587" } }, "GRch38": { "90": { "location": "6:42963870-42979220", "ensembl_id": "ENSG00000124587" } } }, "hgnc_date_symbol_changed": "1997-05-22" }, "entity_type": "gene", "entity_name": "PEX6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Zellweger syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC26979", "JBTS6", "NPHP11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28396", "gene_name": "transmembrane protein 67", "omim_gene": [ "609884" ], "alias_name": [ "Meckelin" ], "gene_symbol": "TMEM67", "hgnc_symbol": "TMEM67", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:94767072-94831462", "ensembl_id": "ENSG00000164953" } }, "GRch38": { "90": { "location": "8:93754844-93819234", "ensembl_id": "ENSG00000164953" } } }, "hgnc_date_symbol_changed": "2005-08-04" }, "entity_type": "gene", "entity_name": "TMEM67", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Meckel syndrome", "Joubert syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MtCCA", "CGI-47", "CCA1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17341", "gene_name": "tRNA nucleotidyl transferase 1", "omim_gene": [ "612907" ], "alias_name": [ "ATP(CTP):tRNA nucleotidyltransferase", "CCA-adding enzyme" ], "gene_symbol": "TRNT1", "hgnc_symbol": "TRNT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:3168600-3192563", "ensembl_id": "ENSG00000072756" } }, "GRch38": { "90": { "location": "3:3126916-3150879", "ensembl_id": "ENSG00000072756" } } }, "hgnc_date_symbol_changed": "2002-05-30" }, "entity_type": "gene", "entity_name": "TRNT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25193871", "23553769", "29170023", "27389523" ], "evidence": [ "Expert Review Green", "Yorkshire and North East GLH", "Wessex and West Midlands GLH", "NHS GMS" ], "phenotypes": [ "Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3366, "hash_id": null, "name": "Red cell disorders", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.", "status": "public", "version": "1.52", "version_created": "2026-03-28T15:18:36.006857+11:00", "relevant_disorders": [ "Abnormal erythrocyte morphology", "HP:0001877" ], "stats": { "number_of_genes": 116, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HGPS", "MADA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6636", "gene_name": "lamin A/C", "omim_gene": [ "150330" ], "alias_name": [ "mandibuloacral dysplasia type A" ], "gene_symbol": "LMNA", "hgnc_symbol": "LMNA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:156052364-156109880", "ensembl_id": "ENSG00000160789" } }, "GRch38": { "90": { "location": "1:156082573-156140089", "ensembl_id": "ENSG00000160789" } } }, "hgnc_date_symbol_changed": "1992-04-09" }, "entity_type": "gene", "entity_name": "LMNA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "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": [ "PKBG", "RAC-gamma", "PRKBG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:393", "gene_name": "AKT serine/threonine kinase 3", "omim_gene": [ "611223" ], "alias_name": [ "protein kinase B, gamma" ], "gene_symbol": "AKT3", "hgnc_symbol": "AKT3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:243651535-244014381", "ensembl_id": "ENSG00000117020" } }, "GRch38": { "90": { "location": "1:243488233-243851079", "ensembl_id": "ENSG00000117020" } } }, "hgnc_date_symbol_changed": "1999-11-16" }, "entity_type": "gene", "entity_name": "AKT3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22729224", "28969385" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Megalencephaly syndromes" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "somatic" ], "panel": { "id": 3472, "hash_id": null, "name": "Mosaic skin disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.15", "version_created": "2025-11-28T10:17:48.863556+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 44, "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": "Tasmanian Clinical Genetics Service", "slug": "tasmanian-clinical-genetics-service", "description": "Tasmanian Clinical Genetics Service" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "nicein-100kDa", "kalinin-105kDa", "BM600-100kDa" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6493", "gene_name": "laminin subunit gamma 2", "omim_gene": [ "150292" ], "alias_name": null, "gene_symbol": "LAMC2", "hgnc_symbol": "LAMC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:183155373-183214035", "ensembl_id": "ENSG00000058085" } }, "GRch38": { "90": { "location": "1:183186238-183244900", "ensembl_id": "ENSG00000058085" } } }, "hgnc_date_symbol_changed": "1993-07-13" }, "entity_type": "gene", "entity_name": "LAMC2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26956061" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Epidermolysis bullosa, junctional 3A, intermediate MIM#619785", "Epidermolysis bullosa, junctional 3B, severe MIM#619786" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PAPPE", "PAPP-A2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14615", "gene_name": "pappalysin 2", "omim_gene": null, "alias_name": null, "gene_symbol": "PAPPA2", "hgnc_symbol": "PAPPA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:176432307-176814735", "ensembl_id": "ENSG00000116183" } }, "GRch38": { "90": { "location": "1:176463171-176845605", "ensembl_id": "ENSG00000116183" } } }, "hgnc_date_symbol_changed": "2004-07-09" }, "entity_type": "gene", "entity_name": "PAPPA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26902202", "34272725", "32739295" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Short stature, Dauber-Argente type, MIM#619489" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3631, "hash_id": null, "name": "Growth failure", "disease_group": "", "disease_sub_group": "", "description": "This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.", "status": "public", "version": "1.102", "version_created": "2026-04-01T10:17:12.005431+11:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 4 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NOV", "QM", "DXS648E", "DXS648", "FLJ23544", "L10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10298", "gene_name": "ribosomal protein L10", "omim_gene": [ "312173" ], "alias_name": null, "gene_symbol": "RPL10", "hgnc_symbol": "RPL10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153618315-153637504", "ensembl_id": "ENSG00000147403" } }, "GRch38": { "90": { "location": "X:154389955-154409168", "ensembl_id": "ENSG00000147403" } } }, "hgnc_date_symbol_changed": "1998-07-23" }, "entity_type": "gene", "entity_name": "RPL10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25316788", "25846674", "26290468" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Intellectual developmental disorder, X-linked, syndromic, 35 MIM# 300998", "severe growth retardation", "intrauterine growth restriction", "short stature", "dysmorphic facial features (prognathism, dental crowding, thin upper lip)", "microcephaly", "seizures", "hypotonia", "genitourinary abnormalities", "cerebellar hypoplasia" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": [ "Cernunnos", "XLF", "FLJ12610" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25737", "gene_name": "non-homologous end joining factor 1", "omim_gene": [ "611290" ], "alias_name": [ "XRCC4-like factor" ], "gene_symbol": "NHEJ1", "hgnc_symbol": "NHEJ1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:219940039-220025587", "ensembl_id": "ENSG00000187736" } }, "GRch38": { "90": { "location": "2:219075317-219160865", "ensembl_id": "ENSG00000187736" } } }, "hgnc_date_symbol_changed": "2006-03-30" }, "entity_type": "gene", "entity_name": "NHEJ1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "16439204", "16439205" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291", "MONDO:0012650" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3631, "hash_id": null, "name": "Growth failure", "disease_group": "", "disease_sub_group": "", "description": "This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.", "status": "public", "version": "1.102", "version_created": "2026-04-01T10:17:12.005431+11:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 4 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "nectin-4", "PRR4", "LNIR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19688", "gene_name": "nectin cell adhesion molecule 4", "omim_gene": [ "609607" ], "alias_name": null, "gene_symbol": "NECTIN4", "hgnc_symbol": "NECTIN4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:161040785-161059389", "ensembl_id": "ENSG00000143217" } }, "GRch38": { "90": { "location": "1:161070995-161089599", "ensembl_id": "ENSG00000143217" } } }, "hgnc_date_symbol_changed": "2016-02-12" }, "entity_type": "gene", "entity_name": "NECTIN4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert list", "Expert Review Green" ], "phenotypes": [ "Ectodermal dysplasia-syndactyly syndrome 1 MIM#613573" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3729, "hash_id": null, "name": "Hand and foot malformations", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.", "status": "public", "version": "0.89", "version_created": "2026-04-07T13:49:34.993963+10:00", "relevant_disorders": [ "Abnormal hand morphology", "HP:0005922; Abnormal foot morphology", "HP:0001760" ], "stats": { "number_of_genes": 101, "number_of_strs": 1, "number_of_regions": 5 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CEP90" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23352", "gene_name": "progesterone immunomodulatory binding factor 1", "omim_gene": [ "607532" ], "alias_name": [ "progesterone-induced blocking factor 1" ], "gene_symbol": "PIBF1", "hgnc_symbol": "PIBF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:73356197-73590591", "ensembl_id": "ENSG00000083535" } }, "GRch38": { "90": { "location": "13:72782059-73016461", "ensembl_id": "ENSG00000083535" } } }, "hgnc_date_symbol_changed": "2007-10-17" }, "entity_type": "gene", "entity_name": "PIBF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26167768", "30858804", "29695797", "33004012" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Expert list", "Literature" ], "phenotypes": [ "Joubert syndrome 33, MONDO:0033311", "Joubert syndrome 33, OMIM:617767" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4218", "gene_name": "growth differentiation factor 3", "omim_gene": [ "606522" ], "alias_name": null, "gene_symbol": "GDF3", "hgnc_symbol": "GDF3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:7842378-7848372", "ensembl_id": "ENSG00000184344" } }, "GRch38": { "90": { "location": "12:7689782-7695776", "ensembl_id": "ENSG00000184344" } } }, "hgnc_date_symbol_changed": "1999-04-23" }, "entity_type": "gene", "entity_name": "GDF3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PubMed: 19864492" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Microphthalmia with coloboma 6, OMIM #613703", "Microphthalmia, isolated 7, OMIM # 613704" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3018", "gene_name": "solute carrier family 26 member 3", "omim_gene": [ "126650" ], "alias_name": null, "gene_symbol": "SLC26A3", "hgnc_symbol": "SLC26A3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:107405912-107443670", "ensembl_id": "ENSG00000091138" } }, "GRch38": { "90": { "location": "7:107765467-107803225", "ensembl_id": "ENSG00000091138" } } }, "hgnc_date_symbol_changed": "1993-04-01" }, "entity_type": "gene", "entity_name": "SLC26A3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31325522", "31477378", "21394828" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Diarrhea 1, secretory chloride, congenital, MIM#214700" ], "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": [ "PR65A", "PP2A-Aalpha", "PP2AA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9302", "gene_name": "protein phosphatase 2 scaffold subunit Aalpha", "omim_gene": [ "605983" ], "alias_name": [ "protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A", "protein phosphatase 2A structural subunit A, alpha isoform" ], "gene_symbol": "PPP2R1A", "hgnc_symbol": "PPP2R1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:52693292-52730687", "ensembl_id": "ENSG00000105568" } }, "GRch38": { "90": { "location": "19:52190039-52229533", "ensembl_id": "ENSG00000105568" } } }, "hgnc_date_symbol_changed": "1993-01-25" }, "entity_type": "gene", "entity_name": "PPP2R1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "33106617", "26168268" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Literature", "Genetic Health Queensland" ], "phenotypes": [ "Mental retardation, autosomal dominant 36, MIM#616362", "Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC9753", "CAB2", "PP1498", "PER1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23719", "gene_name": "post-GPI attachment to proteins 3", "omim_gene": [ "611801" ], "alias_name": [ "post-GPI attachment to proteins 3" ], "gene_symbol": "PGAP3", "hgnc_symbol": "PGAP3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:37827375-37853050", "ensembl_id": "ENSG00000161395" } }, "GRch38": { "90": { "location": "17:39671122-39696797", "ensembl_id": "ENSG00000161395" } } }, "hgnc_date_symbol_changed": "2009-06-02" }, "entity_type": "gene", "entity_name": "PGAP3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24439110", "29620724", "30345601", "30217754" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4341", "gene_name": "glutamate-ammonia ligase", "omim_gene": [ "138290" ], "alias_name": [ "glutamine synthetase" ], "gene_symbol": "GLUL", "hgnc_symbol": "GLUL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:182350839-182361341", "ensembl_id": "ENSG00000135821" } }, "GRch38": { "90": { "location": "1:182381704-182392206", "ensembl_id": "ENSG00000135821" } } }, "hgnc_date_symbol_changed": "1988-11-30" }, "entity_type": "gene", "entity_name": "GLUL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16267323", "21353613", "33150193" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Glutamine deficiency, congenital MIM#610015" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:649", "gene_name": "archain 1", "omim_gene": [ "600820" ], "alias_name": null, "gene_symbol": "ARCN1", "hgnc_symbol": "ARCN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:118443105-118473748", "ensembl_id": "ENSG00000095139" } }, "GRch38": { "90": { "location": "11:118572390-118603033", "ensembl_id": "ENSG00000095139" } } }, "hgnc_date_symbol_changed": "1994-08-29" }, "entity_type": "gene", "entity_name": "ARCN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27476655", "33154040", "35300924" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164", "Microcephalic dwarfism" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HT2A", "TATIP", "BBS11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16380", "gene_name": "tripartite motif containing 32", "omim_gene": [ "602290" ], "alias_name": null, "gene_symbol": "TRIM32", "hgnc_symbol": "TRIM32", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:119449581-119463579", "ensembl_id": "ENSG00000119401" } }, "GRch38": { "90": { "location": "9:116687302-116701300", "ensembl_id": "ENSG00000119401" } } }, "hgnc_date_symbol_changed": "2001-08-10" }, "entity_type": "gene", "entity_name": "TRIM32", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16606853" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Bardet-Biedl syndrome 11, MIM# 615988" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3764, "hash_id": null, "name": "Severe early-onset obesity", "disease_group": "Endocrine disorders", "disease_sub_group": "", "description": "This panel contains genes associated with syndromic and non-syndromic causes of severe, early-onset obesity (weight >3 standard deviations above the mean, with onset before the age of 5 years).\r\n\r\nIf other growth parameters are affected, please consider the Overgrowth and the Macrocephaly_Megalencephaly panels.", "status": "public", "version": "1.30", "version_created": "2026-03-18T15:16:42.995334+11:00", "relevant_disorders": [ "Obesity", "HP:0001513" ], "stats": { "number_of_genes": 59, "number_of_strs": 0, "number_of_regions": 3 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "XAP104", "H105e3", "SDR31E1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13398", "gene_name": "NAD(P) dependent steroid dehydrogenase-like", "omim_gene": [ "300275" ], "alias_name": [ "short chain dehydrogenase/reductase family 31E, member 1" ], "gene_symbol": "NSDHL", "hgnc_symbol": "NSDHL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:151999511-152038273", "ensembl_id": "ENSG00000147383" } }, "GRch38": { "90": { "location": "X:152830967-152869729", "ensembl_id": "ENSG00000147383" } } }, "hgnc_date_symbol_changed": "2004-04-30" }, "entity_type": "gene", "entity_name": "NSDHL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19842190", "21129721", "34091503", "23042573" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "CK syndrome, MIM#300831" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:19957", "gene_name": "tectonin beta-propeller repeat containing 2", "omim_gene": [ "615000" ], "alias_name": null, "gene_symbol": "TECPR2", "hgnc_symbol": "TECPR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:102829300-102968818", "ensembl_id": "ENSG00000196663" } }, "GRch38": { "90": { "location": "14:102362963-102502481", "ensembl_id": "ENSG00000196663" } } }, "hgnc_date_symbol_changed": "2009-02-27" }, "entity_type": "gene", "entity_name": "TECPR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26542466", "23176824", "35130874" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BB1", "hMBOA-7", "LPIAT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15505", "gene_name": "membrane bound O-acyltransferase domain containing 7", "omim_gene": [ "606048" ], "alias_name": [ "lysophosphatidylinositol acyltransferase" ], "gene_symbol": "MBOAT7", "hgnc_symbol": "MBOAT7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:54677107-54693733", "ensembl_id": "ENSG00000125505" } }, "GRch38": { "90": { "location": "19:54173412-54189882", "ensembl_id": "ENSG00000125505" } } }, "hgnc_date_symbol_changed": "2008-01-17" }, "entity_type": "gene", "entity_name": "MBOAT7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23097495", "27616480", "33335874", "32645526", "32744787", "31852446", "31282596", "30701556" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Intellectual developmental disorder, autosomal recessive 57, MIM #617188" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ADGF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1839", "gene_name": "adenosine deaminase 2", "omim_gene": [ "607575" ], "alias_name": null, "gene_symbol": "ADA2", "hgnc_symbol": "ADA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:17660194-17702879", "ensembl_id": "ENSG00000093072" } }, "GRch38": { "90": { "location": "22:17178790-17221989", "ensembl_id": "ENSG00000093072" } } }, "hgnc_date_symbol_changed": "2017-02-16" }, "entity_type": "gene", "entity_name": "ADA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24552284", "24552285", "33791889" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SAC3", "hSac3", "dJ249I4.1", "ALS11", "CMT4J" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16873", "gene_name": "FIG4 phosphoinositide 5-phosphatase", "omim_gene": [ "609390" ], "alias_name": null, "gene_symbol": "FIG4", "hgnc_symbol": "FIG4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:110012499-110146631", "ensembl_id": "ENSG00000112367" } }, "GRch38": { "90": { "location": "6:109691312-109825428", "ensembl_id": "ENSG00000112367" } } }, "hgnc_date_symbol_changed": "2007-07-30" }, "entity_type": "gene", "entity_name": "FIG4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30740813", "23623387", "17572665", "24878229" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Yunis-Varon syndrome, MIM#216340" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CD132" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6010", "gene_name": "interleukin 2 receptor subunit gamma", "omim_gene": [ "308380" ], "alias_name": null, "gene_symbol": "IL2RG", "hgnc_symbol": "IL2RG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:70327254-70331958", "ensembl_id": "ENSG00000147168" } }, "GRch38": { "90": { "location": "X:71107404-71112108", "ensembl_id": "ENSG00000147168" } } }, "hgnc_date_symbol_changed": "1992-11-30" }, "entity_type": "gene", "entity_name": "IL2RG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Severe combined immunodeficiency, X-linked, 300400 (3)" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6553", "gene_name": "leptin", "omim_gene": [ "164160" ], "alias_name": null, "gene_symbol": "LEP", "hgnc_symbol": "LEP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:127881337-127897681", "ensembl_id": "ENSG00000174697" } }, "GRch38": { "90": { "location": "7:128241284-128257628", "ensembl_id": "ENSG00000174697" } } }, "hgnc_date_symbol_changed": "1993-01-26" }, "entity_type": "gene", "entity_name": "LEP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26567097", "31483094" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Obesity, morbid, due to leptin deficiency, MIM#614962" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DDBB", "UV-DDB2", "FLJ34321", "XPE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2718", "gene_name": "damage specific DNA binding protein 2", "omim_gene": [ "600811" ], "alias_name": [ "xeroderma pigmentosum group E protein", "UV-damaged DNA-binding protein 2", "DDB p48 subunit" ], "gene_symbol": "DDB2", "hgnc_symbol": "DDB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:47236493-47260767", "ensembl_id": "ENSG00000134574" } }, "GRch38": { "90": { "location": "11:47214465-47239240", "ensembl_id": "ENSG00000134574" } } }, "hgnc_date_symbol_changed": "1995-07-06" }, "entity_type": "gene", "entity_name": "DDB2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32530099", "32228487" ], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:28434", "gene_name": "cyclin Q", "omim_gene": [ "300708" ], "alias_name": null, "gene_symbol": "FAM58A", "hgnc_symbol": "CCNQ", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch38": { "90": { "location": "X:153587919-153600045", "ensembl_id": "ENSG00000262919" } } }, "hgnc_date_symbol_changed": "2017-07-14" }, "entity_type": "gene", "entity_name": "FAM58A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": [ "CED", "TGFbeta" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11766", "gene_name": "transforming growth factor beta 1", "omim_gene": [ "190180" ], "alias_name": [ "Camurati-Engelmann disease", "prepro-transforming growth factor beta-1" ], "gene_symbol": "TGFB1", "hgnc_symbol": "TGFB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:41807492-41859816", "ensembl_id": "ENSG00000105329" } }, "GRch38": { "90": { "location": "19:41301587-41353911", "ensembl_id": "ENSG00000105329" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "TGFB1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Camurati-Engelmann disease" ], "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": [ "BHD", "MGC17998", "MGC23445" ], "biotype": "protein_coding", "hgnc_id": "HGNC:27310", "gene_name": "folliculin", "omim_gene": [ "607273" ], "alias_name": null, "gene_symbol": "FLCN", "hgnc_symbol": "FLCN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:17115526-17140502", "ensembl_id": "ENSG00000154803" } }, "GRch38": { "90": { "location": "17:17212212-17237188", "ensembl_id": "ENSG00000154803" } } }, "hgnc_date_symbol_changed": "2004-08-05" }, "entity_type": "gene", "entity_name": "FLCN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20301695" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Birt-Hogg-Dube syndrome MONDO:0007607" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4093, "hash_id": null, "name": "Facial papules", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with diseases where facial papules and lesions can be a predominant feature of the phenotype, including coarse facies. It was developed by Prof Ingrid Winship from Royal Melbourne Hospital for use in the Genodermatosis clinic.", "status": "public", "version": "1.1", "version_created": "2026-01-12T09:37:15.457047+11:00", "relevant_disorders": [ "Papule HP:0200034" ], "stats": { "number_of_genes": 22, "number_of_strs": 0, "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" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ20507", "FLJ22257" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26038", "gene_name": "transmembrane protein 127", "omim_gene": [ "613403" ], "alias_name": null, "gene_symbol": "TMEM127", "hgnc_symbol": "TMEM127", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:96914254-96931732", "ensembl_id": "ENSG00000135956" } }, "GRch38": { "90": { "location": "2:96248516-96265994", "ensembl_id": "ENSG00000135956" } } }, "hgnc_date_symbol_changed": "2006-02-13" }, "entity_type": "gene", "entity_name": "TMEM127", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "34012068" ], "evidence": [ "Expert list", "Expert Review Green" ], "phenotypes": [ "{Pheochromocytoma, susceptibility to} 171300" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4126, "hash_id": null, "name": "Transplant Co-Morbidity", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma", "status": "public", "version": "0.21", "version_created": "2026-01-16T12:00:12.269232+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 278, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "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": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8896559", "9497254", "9705234", "27593200", "31898847" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission", "Mackenzie's Mission" ], "phenotypes": [ "Hermansky-Pudlak syndrome 1, MIM#203300" ], "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": [ "TIN2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11824", "gene_name": "TERF1 interacting nuclear factor 2", "omim_gene": [ "604319" ], "alias_name": null, "gene_symbol": "TINF2", "hgnc_symbol": "TINF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:24708849-24711880", "ensembl_id": "ENSG00000092330" } }, "GRch38": { "90": { "location": "14:24239643-24242674", "ensembl_id": "ENSG00000092330" } } }, "hgnc_date_symbol_changed": "1999-11-19" }, "entity_type": "gene", "entity_name": "TINF2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "18252230", "21477109", "18979121", "18669893", "21199492", "33097095" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Dyskeratosis congenita, autosomal dominant 3 MONDO:0013522" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SEF2-1B", "ITF2", "bHLHb19", "E2-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11634", "gene_name": "transcription factor 4", "omim_gene": [ "602272" ], "alias_name": null, "gene_symbol": "TCF4", "hgnc_symbol": "TCF4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:52889562-53332018", "ensembl_id": "ENSG00000196628" } }, "GRch38": { "90": { "location": "18:55222331-55664787", "ensembl_id": "ENSG00000196628" } } }, "hgnc_date_symbol_changed": "1990-10-16" }, "entity_type": "str", "entity_name": "TCF4_FECD3_CTG", "confidence_level": "3", "penetrance": null, "publications": [ "25722209", "24255041" ], "evidence": [ "Expert list", "Expert Review Green", "Expert Review Green", "Expert list" ], "phenotypes": [ "Corneal dystrophy, Fuchs endothelial, 3 MIM#613267" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CTG", "chromosome": "18", "grch37_coordinates": [ 53253387, 53253458 ], "grch38_coordinates": [ 55586156, 55586227 ], "normal_repeats": 31, "pathogenic_repeats": 51, "tags": [ "adult-onset" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] } }, { "gene_data": { "alias": [ "NOTCH2NLC" ], "biotype": "gene with protein product", "hgnc_id": "HGNC:53924", "gene_name": "Notch 2 N-Terminal Like C", "omim_gene": [ "618025" ], "alias_name": [ "notch 2 N-terminal like C" ], "gene_symbol": "NOTCH2NLC", "hgnc_symbol": "NOTCH2NLC", "hgnc_release": "2000-01-01", "ensembl_genes": { "GRch37": { "82": { "location": "1:150077036-150158248", "ensembl_id": "ENSG00000286219" } }, "GRch38": { "90": { "location": "1:149390621-149471833", "ensembl_id": "ENSG00000286219" } } }, "hgnc_date_symbol_changed": "2000-01-01" }, "entity_type": "str", "entity_name": "NOTCH2NLC_NIID_GGC", "confidence_level": "3", "penetrance": null, "publications": [ "31178126", "31332381", "31819945", "33887199", "33943039", "32250060", "31332380", "32852534", "32989102", "34333668" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neuronal intranuclear inclusion disease MIM#603472", "Oculopharyngodistal myopathy 3 MIM#619473", "Tremor, hereditary essential, 6 MIM#618866" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "GGC", "chromosome": "1", "grch37_coordinates": [ 145209324, 145209344 ], "grch38_coordinates": [ 149390803, 149390829 ], "normal_repeats": 40, "pathogenic_repeats": 60, "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] } }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5102", "gene_name": "homeobox A13", "omim_gene": [ "142959" ], "alias_name": null, "gene_symbol": "HOXA13", "hgnc_symbol": "HOXA13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:27233122-27239725", "ensembl_id": "ENSG00000106031" } }, "GRch38": { "90": { "location": "7:27193503-27200106", "ensembl_id": "ENSG00000106031" } } }, "hgnc_date_symbol_changed": "1990-07-05" }, "entity_type": "str", "entity_name": "HOXA13_HFGS_GCN3", "confidence_level": "3", "penetrance": null, "publications": [ "10839976", "12073020", "33811808" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Hand-foot-uterus syndrome MIM#140000" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "GCN", "chromosome": "7", "grch37_coordinates": [ 27239298, 27239351 ], "grch38_coordinates": [ 27199679, 27199732 ], "normal_repeats": 18, "pathogenic_repeats": 24, "tags": [ "paediatric-onset" ], "panel": { "id": 3597, "hash_id": null, "name": "Repeat Disorders", "disease_group": "", "disease_sub_group": "", "description": "This panel contains reported short tandem repeat (STR) expansion disorders. The naming convention of the STRs is based on the name of the condition or fragile site that the expansion is associated with. \r\nThe panel was developed by RMH and WEHI, and is maintained by RMH.\r\n\r\nThis panel is used as a research panel by the Australian Genomics Acute Care study.", "status": "public", "version": "0.272", "version_created": "2026-01-02T15:16:39.779953+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 0, "number_of_strs": 76, "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": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] } } ] }