{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=297","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=295","results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2295","gene_name":"ceruloplasmin","omim_gene":["117700"],"alias_name":["ferroxidase"],"gene_symbol":"CP","hgnc_symbol":"CP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:148880197-148939842","ensembl_id":"ENSG00000047457"}},"GRch38":{"90":{"location":"3:149162410-149222055","ensembl_id":"ENSG00000047457"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["7539672","https://doi.org/10.1093/qjmed/89.5.355","28874056","28012953"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":24,"hash_id":null,"name":"Early-onset Dementia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause frontotemporal dementia (FTD), Alzheimer's disease, other forms of dementia, and adult-onset cognitive decline. It is currently maintained by VCGS and RMH. The base panel (17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"1.58","version_created":"2026-03-31T16:43:37.497568+11:00","relevant_disorders":["Cognitive impairment","HP:0100543"],"stats":{"number_of_genes":96,"number_of_strs":6,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["EWS"],"biotype":"protein_coding","hgnc_id":"HGNC:3508","gene_name":"EWS RNA binding protein 1","omim_gene":["133450"],"alias_name":null,"gene_symbol":"EWSR1","hgnc_symbol":"EWSR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:29663998-29696515","ensembl_id":"ENSG00000182944"}},"GRch38":{"90":{"location":"22:29268009-29300525","ensembl_id":"ENSG00000182944"}}},"hgnc_date_symbol_changed":"1992-11-27"},"entity_type":"gene","entity_name":"EWSR1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["29731676","22454397"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Amyotrophic lateral sclerosis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"panel":{"id":25,"hash_id":null,"name":"Motor Neurone Disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"1.48","version_created":"2026-03-31T16:37:58.241144+11:00","relevant_disorders":[],"stats":{"number_of_genes":79,"number_of_strs":4,"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":[]},{"gene_data":{"alias":["FLJ21404","FSA","KIAA1371","Tweek"],"biotype":"protein_coding","hgnc_id":"HGNC:26953","gene_name":"KIAA1109","omim_gene":["611565"],"alias_name":["fragile site-associated"],"gene_symbol":"KIAA1109","hgnc_symbol":"KIAA1109","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:123073488-123283913","ensembl_id":"ENSG00000138688"}},"GRch38":{"90":{"location":"4:122152333-122362758","ensembl_id":"ENSG00000138688"}}},"hgnc_date_symbol_changed":"2004-07-29"},"entity_type":"gene","entity_name":"KIAA1109","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29290337","30906834"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Alkuraya-Kucinskas syndrome, MIM# 617822"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SYNE-1B","KIAA0796","8B","Nesprin-1","enaptin","MYNE1","CPG2","dJ45H2.2","SCAR8","ARCA1","Nesp1"],"biotype":"protein_coding","hgnc_id":"HGNC:17089","gene_name":"spectrin repeat containing nuclear envelope protein 1","omim_gene":["608441"],"alias_name":["myocyte nuclear envelope protein 1","nuclear envelope spectrin repeat-1"],"gene_symbol":"SYNE1","hgnc_symbol":"SYNE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:152442819-152958936","ensembl_id":"ENSG00000131018"}},"GRch38":{"90":{"location":"6:152121684-152637801","ensembl_id":"ENSG00000131018"}}},"hgnc_date_symbol_changed":"2003-02-19"},"entity_type":"gene","entity_name":"SYNE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27782104"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Distal arthrogryposis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["LARP","KIAA0731","MGC19556"],"biotype":"protein_coding","hgnc_id":"HGNC:29531","gene_name":"La ribonucleoprotein domain family member 1","omim_gene":["612059"],"alias_name":null,"gene_symbol":"LARP1","hgnc_symbol":"LARP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:154092462-154197167","ensembl_id":"ENSG00000155506"}},"GRch38":{"90":{"location":"5:154712902-154817607","ensembl_id":"ENSG00000155506"}}},"hgnc_date_symbol_changed":"2005-06-16"},"entity_type":"gene","entity_name":"LARP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39182167"],"evidence":["Expert Review Green","Other"],"phenotypes":["Neurodevelopmental disorder","MONDO:0700092"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["FVIII","DXS1253E","HEMA"],"biotype":"protein_coding","hgnc_id":"HGNC:3546","gene_name":"coagulation factor VIII","omim_gene":["300841"],"alias_name":["Factor VIIIF8B","hemophilia A"],"gene_symbol":"F8","hgnc_symbol":"F8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:154064063-154255215","ensembl_id":"ENSG00000185010"}},"GRch38":{"90":{"location":"X:154835788-155026940","ensembl_id":"ENSG00000185010"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"F8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["2986011","3097553"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Haemophilia A, MIM# 306700","MONDO:0010602","Thrombophilia 13, X-linked, due to factor VIII defect, MIM#\t301071"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":54,"hash_id":null,"name":"Bleeding and Platelet Disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with coagulation, platelet and blood vessel disorders that predispose to bleeding and to thrombosis.","status":"public","version":"1.77","version_created":"2026-04-08T12:32:35.286494+10:00","relevant_disorders":["Abnormal bleeding","HP:0001892;Abnormal thrombosis","HP:0001977"],"stats":{"number_of_genes":140,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["rpL23","L17"],"biotype":"protein_coding","hgnc_id":"HGNC:10307","gene_name":"ribosomal protein L17","omim_gene":["603661"],"alias_name":null,"gene_symbol":"RPL17","hgnc_symbol":"RPL17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:47014851-47018906","ensembl_id":"ENSG00000265681"}},"GRch38":{"90":{"location":"18:49488453-49492523","ensembl_id":"ENSG00000265681"}}},"hgnc_date_symbol_changed":"1991-12-17"},"entity_type":"gene","entity_name":"RPL17","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39088281"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Diamond-Blackfan anaemia 22, MIM# 621262"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":56,"hash_id":null,"name":"Bone Marrow Failure","disease_group":"Haematological disorders","disease_sub_group":"","description":"Bone marrow failure (BMF) refers to the decreased production of one or more major haematopoietic lineages which leads to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.","status":"public","version":"1.141","version_created":"2026-03-17T18:48:23.244194+11:00","relevant_disorders":["Abnormality of multiple cell lineages of the bone marrow","HP:0012145"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1304","ARHGAP13"],"biotype":"protein_coding","hgnc_id":"HGNC:17382","gene_name":"SLIT-ROBO Rho GTPase activating protein 1","omim_gene":["606523"],"alias_name":null,"gene_symbol":"SRGAP1","hgnc_symbol":"SRGAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:64238073-64541613","ensembl_id":"ENSG00000196935"}},"GRch38":{"90":{"location":"12:63844293-64162221","ensembl_id":"ENSG00000196935"}}},"hgnc_date_symbol_changed":"2002-12-09"},"entity_type":"gene","entity_name":"SRGAP1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["26026792"],"evidence":["Victorian Clinical Genetics Services","Expert Review Amber","Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["CAKUT, MONDO:0019719, SRGAP1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":63,"hash_id":null,"name":"Congenital anomalies of the kidney and urinary tract (CAKUT)","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel contains genes associated with nonsyndromic and syndromic congenital anomalies of the kidney and urinary tract (CAKUT).","status":"public","version":"0.204","version_created":"2026-03-19T13:24:30.325727+11:00","relevant_disorders":["Abnormality of the urinary system HP:0000079"],"stats":{"number_of_genes":124,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ndrp","FLJ20705","DCAF14","BRWD2"],"biotype":"protein_coding","hgnc_id":"HGNC:15673","gene_name":"pleckstrin homology domain interacting protein","omim_gene":["612870"],"alias_name":["DDB1 and CUL4 associated factor 14"],"gene_symbol":"PHIP","hgnc_symbol":"PHIP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:79645584-79787953","ensembl_id":"ENSG00000146247"}},"GRch38":{"90":{"location":"6:78935867-79078236","ensembl_id":"ENSG00000146247"}}},"hgnc_date_symbol_changed":"2001-05-04"},"entity_type":"gene","entity_name":"PHIP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Chung-Jansen syndrome, MIM#617991"],"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":["DBX","HLP2","DDX14"],"biotype":"protein_coding","hgnc_id":"HGNC:2745","gene_name":"DEAD-box helicase 3, X-linked","omim_gene":["300160"],"alias_name":null,"gene_symbol":"DDX3X","hgnc_symbol":"DDX3X","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:41192651-41223725","ensembl_id":"ENSG00000215301"}},"GRch38":{"90":{"location":"X:41333348-41364472","ensembl_id":"ENSG00000215301"}}},"hgnc_date_symbol_changed":"2003-06-20"},"entity_type":"gene","entity_name":"DDX3X","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33528536"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cerebral Palsy","Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":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":["CSBP","TUNP"],"biotype":"protein_coding","hgnc_id":"HGNC:5044","gene_name":"heterogeneous nuclear ribonucleoprotein K","omim_gene":["600712"],"alias_name":["transformation upregulated nuclear protein"],"gene_symbol":"HNRNPK","hgnc_symbol":"HNRNPK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:86582998-86595569","ensembl_id":"ENSG00000165119"}},"GRch38":{"90":{"location":"9:83968083-83980616","ensembl_id":"ENSG00000165119"}}},"hgnc_date_symbol_changed":"2008-04-18"},"entity_type":"gene","entity_name":"HNRNPK","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Literature"],"phenotypes":["Au-Kline syndrome MIM#616580"],"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":["DJS","MRP2","cMRP"],"biotype":"protein_coding","hgnc_id":"HGNC:53","gene_name":"ATP binding cassette subfamily C member 2","omim_gene":["601107"],"alias_name":null,"gene_symbol":"ABCC2","hgnc_symbol":"ABCC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:101542489-101611949","ensembl_id":"ENSG00000023839"}},"GRch38":{"90":{"location":"10:99782732-99852192","ensembl_id":"ENSG00000023839"}}},"hgnc_date_symbol_changed":"1997-05-09"},"entity_type":"gene","entity_name":"ABCC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Dubin-Johnson syndrome, MIM# 237500"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":78,"hash_id":null,"name":"Cholestasis","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS.\r\n\r\nIt includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause cholestasis.\r\n\r\nPlease also consider using the Liver Failure_Paediatric panel if clinically indicated.\r\n\r\nThe content of this panel has been compared against the Genomics England PanelApp 'Cholestasis' panel V1.21, with all discrepancies reviewed and resolved, and reciprocal feedback provided to Genomics England.","status":"public","version":"1.10","version_created":"2026-03-26T17:26:27.105917+11:00","relevant_disorders":["Cholestasis HP:0001396"],"stats":{"number_of_genes":99,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC33212"],"biotype":"protein_coding","hgnc_id":"HGNC:28482","gene_name":"Tctex1 domain containing 2","omim_gene":["617353"],"alias_name":null,"gene_symbol":"TCTEX1D2","hgnc_symbol":"TCTEX1D2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:196018090-196045170","ensembl_id":"ENSG00000213123"}},"GRch38":{"90":{"location":"3:196291219-196318299","ensembl_id":"ENSG00000213123"}}},"hgnc_date_symbol_changed":"2007-12-17"},"entity_type":"gene","entity_name":"TCTEX1D2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26044572","25830415"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":84,"hash_id":null,"name":"Ciliopathies","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"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":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["29852132","20643727"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Coronal craniosynostosis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":93,"hash_id":null,"name":"Craniosynostosis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH. It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.","status":"public","version":"1.85","version_created":"2026-04-07T13:46:55.940488+10:00","relevant_disorders":["Craniosynostosis HP:0001363"],"stats":{"number_of_genes":105,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HERA-B"],"biotype":"protein_coding","hgnc_id":"HGNC:3424","gene_name":"Era like 12S mitochondrial rRNA chaperone 1","omim_gene":["607435"],"alias_name":null,"gene_symbol":"ERAL1","hgnc_symbol":"ERAL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:27181956-27188085","ensembl_id":"ENSG00000132591"}},"GRch38":{"90":{"location":"17:28854938-28861067","ensembl_id":"ENSG00000132591"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"ERAL1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 28449065"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Perrault syndrome 6\t617565"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":99,"hash_id":null,"name":"Differences of Sex Development","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.47","version_created":"2026-04-06T10:50:25.990411+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":141,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9455","gene_name":"PROP paired-like homeobox 1","omim_gene":["601538"],"alias_name":null,"gene_symbol":"PROP1","hgnc_symbol":"PROP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:177419236-177423243","ensembl_id":"ENSG00000175325"}},"GRch38":{"90":{"location":"5:177992235-177996242","ensembl_id":"ENSG00000175325"}}},"hgnc_date_symbol_changed":"1998-02-02"},"entity_type":"gene","entity_name":"PROP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15941866","11549703"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Pituitary hormone deficiency, combined, 2 (MIM#262600)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":99,"hash_id":null,"name":"Differences of Sex Development","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.47","version_created":"2026-04-06T10:50:25.990411+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":141,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TUBL3"],"biotype":"protein_coding","hgnc_id":"HGNC:12425","gene_name":"tubby like protein 3","omim_gene":["604730"],"alias_name":null,"gene_symbol":"TULP3","hgnc_symbol":"TULP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:2986389-3050306","ensembl_id":"ENSG00000078246"}},"GRch38":{"90":{"location":"12:2877223-2941140","ensembl_id":"ENSG00000078246"}}},"hgnc_date_symbol_changed":"1998-05-11"},"entity_type":"gene","entity_name":"TULP3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 35397207"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Hepatorenocardiac degenerative fibrosis, MIM# 619902"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":111,"hash_id":null,"name":"Hypertrophic cardiomyopathy","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes associated with hypertrophic cardiomyopathy or isolated left ventricular hypertrophy (including sarcomere, sarcomere-associated and syndromic conditions), typically with onset in adolescence or adulthood. For early-onset hypertrophic cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel was developed by VCGS and is maintained by VCGS and RMH. It has been compared against the Genomics England 'Hypertrophic Cardiomyopathy  - teen and adult' panel and incorporates gene-disease validity assessments by the ClinGen HCM working group (PMID: 30681346), 5/8/2020 and Hereditary Cardiovascular Disorders Gene Curation Expert Panel (PMID: 39132495).","status":"public","version":"1.25","version_created":"2026-03-11T18:45:28.302854+11:00","relevant_disorders":["Hypertrophic cardiomyopathy","HP:0001639"],"stats":{"number_of_genes":64,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Tyro11"],"biotype":"protein_coding","hgnc_id":"HGNC:3395","gene_name":"EPH receptor B4","omim_gene":["600011"],"alias_name":null,"gene_symbol":"EPHB4","hgnc_symbol":"EPHB4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:100400187-100425121","ensembl_id":"ENSG00000196411"}},"GRch38":{"90":{"location":"7:100802565-100827521","ensembl_id":"ENSG00000196411"}}},"hgnc_date_symbol_changed":"1994-12-15"},"entity_type":"gene","entity_name":"EPHB4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27400125","35178555"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Lymphatic malformation 7 (MIM#617300), AD"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["hCAP-1A","FLJ30655"],"biotype":"protein_coding","hgnc_id":"HGNC:26406","gene_name":"sodium channel and clathrin linker 1","omim_gene":["611399"],"alias_name":null,"gene_symbol":"SCLT1","hgnc_symbol":"SCLT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:129786076-130014764","ensembl_id":"ENSG00000151466"}},"GRch38":{"90":{"location":"4:128864921-129093607","ensembl_id":"ENSG00000151466"}}},"hgnc_date_symbol_changed":"2006-07-18"},"entity_type":"gene","entity_name":"SCLT1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 24285566","32253632","30425282"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Orofaciodigital syndrome type IX","Senior-Loken syndrome","Bardet-Biedl syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":129,"hash_id":null,"name":"Joubert syndrome and other neurological ciliopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes associated with Joubert syndrome, Meckel Gruber syndrome and other ciliopathies where structural CNS abnormalities are prominent.\r\n\r\nPlease consider also applying the Cerebellar and Pontocerebellar Hypoplasia panel in the presence of more non-specific cerebellar abnormalities and applying the Ciliopathy panel in the presence of additional clinical features suggestive of a multi-system ciliopathy.","status":"public","version":"1.33","version_created":"2025-12-16T12:55:34.757878+11:00","relevant_disorders":["Molar tooth sign on MRI","HP:0002419; Joubert syndrome","MONDO:0018772"],"stats":{"number_of_genes":69,"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":["ZNF379","CGI-89","ZNF380"],"biotype":"protein_coding","hgnc_id":"HGNC:18475","gene_name":"zinc finger DHHC-type containing 9","omim_gene":["300646"],"alias_name":null,"gene_symbol":"ZDHHC9","hgnc_symbol":"ZDHHC9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:128937264-128977885","ensembl_id":"ENSG00000188706"}},"GRch38":{"90":{"location":"X:129803288-129843909","ensembl_id":"ENSG00000188706"}}},"hgnc_date_symbol_changed":"2002-04-05"},"entity_type":"gene","entity_name":"ZDHHC9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29681091"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder, X-linked, syndromic, Raymond type, MIM#\t300799"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EZH1","ENX-1","KMT6","KMT6A"],"biotype":"protein_coding","hgnc_id":"HGNC:3527","gene_name":"enhancer of zeste 2 polycomb repressive complex 2 subunit","omim_gene":["601573"],"alias_name":null,"gene_symbol":"EZH2","hgnc_symbol":"EZH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:148504475-148581413","ensembl_id":"ENSG00000106462"}},"GRch38":{"90":{"location":"7:148807383-148884321","ensembl_id":"ENSG00000106462"}}},"hgnc_date_symbol_changed":"1995-12-21"},"entity_type":"gene","entity_name":"EZH2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29244146","23865096"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Weaver syndrome MIM#277590"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DWF-1"],"biotype":"protein_coding","hgnc_id":"HGNC:3497","gene_name":"EvC ciliary complex subunit 1","omim_gene":["604831"],"alias_name":null,"gene_symbol":"EVC","hgnc_symbol":"EVC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:5712924-5830772","ensembl_id":"ENSG00000072840"}},"GRch38":{"90":{"location":"4:5711197-5814305","ensembl_id":"ENSG00000072840"}}},"hgnc_date_symbol_changed":"1995-04-24"},"entity_type":"gene","entity_name":"EVC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10700184","23220543"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Weyers acrofacial dysostosis, MIM# 193530","Ellis-van Creveld syndrome, MIM# 225500"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":136,"hash_id":null,"name":"Mandibulofacial Acrofacial dysostosis","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 contains genes associated with the facial dysostoses, which can be subdivided into mandibulofacial dysostoses, which present with craniofacial defects only, and acrofacial dysostoses, which encompass both craniofacial and limb anomalies. Facial dysostoses arise as a consequence of abnormal development of the first and second pharyngeal arches and their derivatives, including the upper and lower jaw and their hyoid support structures.","status":"public","version":"1.22","version_created":"2026-03-25T17:21:58.910310+11:00","relevant_disorders":["Craniofacial dysostosis","HP:0004439"],"stats":{"number_of_genes":35,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CAML","GET2"],"biotype":"protein_coding","hgnc_id":"HGNC:1471","gene_name":"calcium modulating ligand","omim_gene":["601118"],"alias_name":["calcium-modulating cyclophilin ligand","calcium-signal modulating cyclophilin ligand","cyclophilin B-binding protein"],"gene_symbol":"CAMLG","hgnc_symbol":"CAMLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:134074191-134087847","ensembl_id":"ENSG00000164615"}},"GRch38":{"90":{"location":"5:134738501-134752160","ensembl_id":"ENSG00000164615"}}},"hgnc_date_symbol_changed":"1994-02-08"},"entity_type":"gene","entity_name":"CAMLG","confidence_level":"1","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["PMID: 35262690"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Congenital disorder of glycosylation type IIz, OMIM# 620201"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["PM/Scl-75","Rrp45p","RRP45","p5","p6"],"biotype":"protein_coding","hgnc_id":"HGNC:9137","gene_name":"exosome component 9","omim_gene":["606180"],"alias_name":["polymyositis/scleroderma autoantigen 1 (75kD)"],"gene_symbol":"EXOSC9","hgnc_symbol":"EXOSC9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:122722472-122738176","ensembl_id":"ENSG00000123737"}},"GRch38":{"90":{"location":"4:121801317-121817021","ensembl_id":"ENSG00000123737"}}},"hgnc_date_symbol_changed":"2004-06-18"},"entity_type":"gene","entity_name":"EXOSC9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30690203","29727687"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Pontocerebellar hypoplasia, type 1D, MIM# 618065"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+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:6637","gene_name":"lamin B1","omim_gene":["150340"],"alias_name":null,"gene_symbol":"LMNB1","hgnc_symbol":"LMNB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:126112315-126172712","ensembl_id":"ENSG00000113368"}},"GRch38":{"90":{"location":"5:126776623-126837020","ensembl_id":"ENSG00000113368"}}},"hgnc_date_symbol_changed":"1995-03-28"},"entity_type":"gene","entity_name":"LMNB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["32910914","16951681","19151023","33033404"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Microcephaly 26, primary, autosomal dominant, MIM# 619179","Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis","Leukodystrophy, adult-onset, autosomal dominant, MIM# 169500","Leukodystrophy, demyelinating, adult-onset, autosomal dominan, atypical, MIM#621061"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["CLN1","INCL"],"biotype":"protein_coding","hgnc_id":"HGNC:9325","gene_name":"palmitoyl-protein thioesterase 1","omim_gene":["600722"],"alias_name":["ceroid-lipofuscinosis, neuronal 1, infantile"],"gene_symbol":"PPT1","hgnc_symbol":"PPT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:40538379-40563375","ensembl_id":"ENSG00000131238"}},"GRch38":{"90":{"location":"1:40071461-40097727","ensembl_id":"ENSG00000131238"}}},"hgnc_date_symbol_changed":"2000-06-09"},"entity_type":"gene","entity_name":"PPT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7637805","9425237","9664077"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 1, MIM# 256730","MONDO:0009744"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+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:9455","gene_name":"PROP paired-like homeobox 1","omim_gene":["601538"],"alias_name":null,"gene_symbol":"PROP1","hgnc_symbol":"PROP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:177419236-177423243","ensembl_id":"ENSG00000175325"}},"GRch38":{"90":{"location":"5:177992235-177996242","ensembl_id":"ENSG00000175325"}}},"hgnc_date_symbol_changed":"1998-02-02"},"entity_type":"gene","entity_name":"PROP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301521","31090814"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Pituitary hormone deficiency, combined, 2 MIM# 262600","Ateliotic dwarfism with hypogonadism","growth failure","short stature","failure to thrive","absent sexual development at puberty","GH, PRL, TSH, LH, and FSH deficiency","pituitary hypoplasia"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["BPTP3","SH-PTP2","SHP-2","PTP2C","SHP2"],"biotype":"protein_coding","hgnc_id":"HGNC:9644","gene_name":"protein tyrosine phosphatase, non-receptor type 11","omim_gene":["176876"],"alias_name":null,"gene_symbol":"PTPN11","hgnc_symbol":"PTPN11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:112856155-112947717","ensembl_id":"ENSG00000179295"}},"GRch38":{"90":{"location":"12:112418351-112509913","ensembl_id":"ENSG00000179295"}}},"hgnc_date_symbol_changed":"1993-03-03"},"entity_type":"gene","entity_name":"PTPN11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["24935154","11704759","21533187"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["LEOPARD syndrome 1 (MIM#151100)","Noonan syndrome 1 (MIM#163950)","Metachondromatosis (MIM#156250)"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["Slit-2"],"biotype":"protein_coding","hgnc_id":"HGNC:11086","gene_name":"slit guidance ligand 2","omim_gene":["603746"],"alias_name":null,"gene_symbol":"SLIT2","hgnc_symbol":"SLIT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:20254883-20622184","ensembl_id":"ENSG00000145147"}},"GRch38":{"90":{"location":"4:20253260-20620561","ensembl_id":"ENSG00000145147"}}},"hgnc_date_symbol_changed":"1999-06-11"},"entity_type":"gene","entity_name":"SLIT2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["26026792","15130495"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["CAKUT MONDO:0019719, SLIT2-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["CDC8","TYMK","TMPK"],"biotype":"protein_coding","hgnc_id":"HGNC:3061","gene_name":"deoxythymidylate kinase","omim_gene":["188345"],"alias_name":["dTMP kinase","thymidylate (dTMP) kinase"],"gene_symbol":"DTYMK","hgnc_symbol":"DTYMK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:242615157-242626406","ensembl_id":"ENSG00000168393"}},"GRch38":{"90":{"location":"2:241675742-241686991","ensembl_id":"ENSG00000168393"}}},"hgnc_date_symbol_changed":"1991-09-12"},"entity_type":"gene","entity_name":"DTYMK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31271740","34918187"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847)"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["bA207C16.1"],"biotype":"protein_coding","hgnc_id":"HGNC:17686","gene_name":"RIC1 homolog, RAB6A GEF complex partner 1","omim_gene":["610354"],"alias_name":null,"gene_symbol":"RIC1","hgnc_symbol":"RIC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:5629025-5776557","ensembl_id":"ENSG00000107036"}},"GRch38":{"90":{"location":"9:5629025-5776557","ensembl_id":"ENSG00000107036"}}},"hgnc_date_symbol_changed":"2014-07-23"},"entity_type":"gene","entity_name":"RIC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31932796","36493769"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cleft lip/palate MONDO:0016044, RIC1-related","Cleft lip","cataract","tooth abnormality","intellectual disability","facial dysmorphism","ADHD"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["Taps","SASPase","FLJ25084"],"biotype":"protein_coding","hgnc_id":"HGNC:26321","gene_name":"aspartic peptidase retroviral like 1","omim_gene":["611765"],"alias_name":["Skin ASpartic Protease"],"gene_symbol":"ASPRV1","hgnc_symbol":"ASPRV1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:70187226-70189397","ensembl_id":"ENSG00000244617"}},"GRch38":{"90":{"location":"2:69960089-69962265","ensembl_id":"ENSG00000244617"}}},"hgnc_date_symbol_changed":"2008-02-20"},"entity_type":"gene","entity_name":"ASPRV1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 32516568"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ichthyosis, lamellar, autosomal dominant, MIM# 146750","palmoplantar keratoderma","lamellar ichthyosis"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["RNAH","ASC1p200","dJ121G13.4","dJ467N11.1"],"biotype":"protein_coding","hgnc_id":"HGNC:18697","gene_name":"activating signal cointegrator 1 complex subunit 3","omim_gene":["614217"],"alias_name":["RNA helicase family"],"gene_symbol":"ASCC3","hgnc_symbol":"ASCC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:100956070-101329248","ensembl_id":"ENSG00000112249"}},"GRch38":{"90":{"location":"6:100508194-100881372","ensembl_id":"ENSG00000112249"}}},"hgnc_date_symbol_changed":"2004-07-28"},"entity_type":"gene","entity_name":"ASCC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["21937992","35047834"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder, autosomal recessive 81, MIM# 620700"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["UNQ6077","FLJ39207","KIAA0268","TANGO","TANGO1"],"biotype":"protein_coding","hgnc_id":"HGNC:24008","gene_name":"MIA family member 3, ER export factor","omim_gene":["613455"],"alias_name":["C219 reactive peptide","transport and golgi organization"],"gene_symbol":"MIA3","hgnc_symbol":"MIA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:222791428-222841354","ensembl_id":"ENSG00000154305"}},"GRch38":{"90":{"location":"1:222618086-222668012","ensembl_id":"ENSG00000154305"}}},"hgnc_date_symbol_changed":"2006-07-25"},"entity_type":"gene","entity_name":"MIA3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32101163","33778321","40948380","40119123"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Ondontochondrodysplasia 2 with hearing loss and diabetes\t, MIM#619269"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["FOLT","RFC1"],"biotype":"protein_coding","hgnc_id":"HGNC:10937","gene_name":"solute carrier family 19 member 1","omim_gene":["600424"],"alias_name":["reduced folate carrier 1","Folate transporter 1"],"gene_symbol":"SLC19A1","hgnc_symbol":"SLC19A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:46913486-46964325","ensembl_id":"ENSG00000173638"}},"GRch38":{"90":{"location":"21:45493572-45544411","ensembl_id":"ENSG00000173638"}}},"hgnc_date_symbol_changed":"1995-05-01"},"entity_type":"gene","entity_name":"SLC19A1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32276275"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Megaloblastic anemia, folate-responsive, MIM# 601775","Combined immunodeficiency, SLC19A1-related MONDO:0015131","myelomeningocele MONDO:0019773, SLC19A1-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["FLJ31633"],"biotype":"protein_coding","hgnc_id":"HGNC:6058","gene_name":"inner centromere protein","omim_gene":["604411"],"alias_name":null,"gene_symbol":"INCENP","hgnc_symbol":"INCENP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:61891445-61920635","ensembl_id":"ENSG00000149503"}},"GRch38":{"90":{"location":"11:62123973-62153163","ensembl_id":"ENSG00000149503"}}},"hgnc_date_symbol_changed":"1988-06-09"},"entity_type":"gene","entity_name":"INCENP","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["41005306"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Oocyte/zygote/embryo maturation arrest MONDO:0014769, INCENP-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4736","version_created":"2026-04-11T11:19:25.397495+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:30846","gene_name":"transmembrane protease, serine 7","omim_gene":null,"alias_name":null,"gene_symbol":"TMPRSS7","hgnc_symbol":"TMPRSS7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:111753690-111800116","ensembl_id":"ENSG00000176040"}},"GRch38":{"90":{"location":"3:112034843-112081269","ensembl_id":"ENSG00000176040"}}},"hgnc_date_symbol_changed":"2003-12-17"},"entity_type":"gene","entity_name":"TMPRSS7","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40796295"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodevelopmental disorder, TMPRSS7-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["DXS423E","KIAA0178","SB1.8","Smcb"],"biotype":"protein_coding","hgnc_id":"HGNC:11111","gene_name":"structural maintenance of chromosomes 1A","omim_gene":["300040"],"alias_name":null,"gene_symbol":"SMC1A","hgnc_symbol":"SMC1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:53401070-53449677","ensembl_id":"ENSG00000072501"}},"GRch38":{"90":{"location":"X:53374149-53422728","ensembl_id":"ENSG00000072501"}}},"hgnc_date_symbol_changed":"2006-07-06"},"entity_type":"gene","entity_name":"SMC1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cornelia de Lange syndrome 2, MIM#\t300590"],"mode_of_inheritance":"Other","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CSA"],"biotype":"protein_coding","hgnc_id":"HGNC:3439","gene_name":"ERCC excision repair 8, CSA ubiquitin ligase complex subunit","omim_gene":["609412"],"alias_name":null,"gene_symbol":"ERCC8","hgnc_symbol":"ERCC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:60169658-60240900","ensembl_id":"ENSG00000049167"}},"GRch38":{"90":{"location":"5:60873831-60945073","ensembl_id":"ENSG00000049167"}}},"hgnc_date_symbol_changed":"1995-02-07"},"entity_type":"gene","entity_name":"ERCC8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["14661080","21108394"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cockayne syndrome, type A, MIM# 216400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CANP"],"biotype":"protein_coding","hgnc_id":"HGNC:24200","gene_name":"family with sequence similarity 111 member B","omim_gene":["615584"],"alias_name":null,"gene_symbol":"FAM111B","hgnc_symbol":"FAM111B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:58874658-58894883","ensembl_id":"ENSG00000189057"}},"GRch38":{"90":{"location":"11:59107185-59127410","ensembl_id":"ENSG00000189057"}}},"hgnc_date_symbol_changed":"2006-02-06"},"entity_type":"gene","entity_name":"FAM111B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["27748098"],"evidence":["Expert Review Green","Other","Expert Review Green"],"phenotypes":["Hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1890","PPP1R24"],"biotype":"protein_coding","hgnc_id":"HGNC:14026","gene_name":"CUB and Sushi multiple domains 1","omim_gene":["608397"],"alias_name":["protein phosphatase 1, regulatory subunit 24"],"gene_symbol":"CSMD1","hgnc_symbol":"CSMD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:2792875-4852494","ensembl_id":"ENSG00000183117"}},"GRch38":{"90":{"location":"8:2935353-4994972","ensembl_id":"ENSG00000183117"}}},"hgnc_date_symbol_changed":"2000-12-21"},"entity_type":"gene","entity_name":"CSMD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID 38816421"],"evidence":["Expert Review Green","Literature"],"phenotypes":["complex neurodevelopmental disorder MONDO:0100038"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DAGK6","DGK"],"biotype":"protein_coding","hgnc_id":"HGNC:2852","gene_name":"diacylglycerol kinase epsilon","omim_gene":["601440"],"alias_name":null,"gene_symbol":"DGKE","hgnc_symbol":"DGKE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:54911460-54946036","ensembl_id":"ENSG00000153933"}},"GRch38":{"90":{"location":"17:56834099-56869567","ensembl_id":"ENSG00000153933"}}},"hgnc_date_symbol_changed":"1998-10-02"},"entity_type":"gene","entity_name":"DGKE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23274426","23542698"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Nephrotic syndrome, type 7, MIM# 615008"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":144,"hash_id":null,"name":"Proteinuria","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"To be used in individuals with suspected nephrotic syndrome and related conditions, part of the Renal Glomerular Disease Superpanel.\r\n\r\n09/01/2020: This panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.","status":"public","version":"0.239","version_created":"2026-03-12T18:51:41.043263+11:00","relevant_disorders":["Proteinuria HP:0000093"],"stats":{"number_of_genes":88,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ23560"],"biotype":"protein_coding","hgnc_id":"HGNC:26291","gene_name":"Bardet-Biedl syndrome 10","omim_gene":["610148"],"alias_name":null,"gene_symbol":"BBS10","hgnc_symbol":"BBS10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:76738254-76742222","ensembl_id":"ENSG00000179941"}},"GRch38":{"90":{"location":"12:76344474-76348442","ensembl_id":"ENSG00000179941"}}},"hgnc_date_symbol_changed":"2006-04-28"},"entity_type":"gene","entity_name":"BBS10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":159,"hash_id":null,"name":"Polydactyly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes that cause syndromic and non-syndromic polydactyly.","status":"public","version":"0.301","version_created":"2026-03-12T11:30:58.449890+11:00","relevant_disorders":["Polydactyly","HP:0010442"],"stats":{"number_of_genes":141,"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":["SPAX5"],"biotype":"protein_coding","hgnc_id":"HGNC:315","gene_name":"AFG3 like matrix AAA peptidase subunit 2","omim_gene":["604581"],"alias_name":null,"gene_symbol":"AFG3L2","hgnc_symbol":"AFG3L2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:12328943-12377313","ensembl_id":"ENSG00000141385"}},"GRch38":{"90":{"location":"18:12328944-12377314","ensembl_id":"ENSG00000141385"}}},"hgnc_date_symbol_changed":"1999-07-13"},"entity_type":"gene","entity_name":"AFG3L2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["25401298","22022284","25927548"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Spastic ataxia 5, autosomal recessive MIM#614487","Spinocerebellar ataxia 28 MIM#610246"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11276","gene_name":"spectrin beta, non-erythrocytic 2","omim_gene":["604985"],"alias_name":null,"gene_symbol":"SPTBN2","hgnc_symbol":"SPTBN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:66452719-66496697","ensembl_id":"ENSG00000173898"}},"GRch38":{"90":{"location":"11:66685248-66729226","ensembl_id":"ENSG00000173898"}}},"hgnc_date_symbol_changed":"1997-10-16"},"entity_type":"gene","entity_name":"SPTBN2","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":["PTI","CAP"],"biotype":"protein_coding","hgnc_id":"HGNC:8950","gene_name":"serpin family B member 6","omim_gene":["173321"],"alias_name":["cytoplasmic antiproteinase"],"gene_symbol":"SERPINB6","hgnc_symbol":"SERPINB6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:2948393-2972090","ensembl_id":"ENSG00000124570"}},"GRch38":{"90":{"location":"6:2948159-2972165","ensembl_id":"ENSG00000124570"}}},"hgnc_date_symbol_changed":"1994-07-20"},"entity_type":"gene","entity_name":"SERPINB6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20451170","25719458","23669344"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal recessive 91, MIM# 613453"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FAC","FA3"],"biotype":"protein_coding","hgnc_id":"HGNC:3584","gene_name":"Fanconi anemia complementation group C","omim_gene":["613899"],"alias_name":null,"gene_symbol":"FANCC","hgnc_symbol":"FANCC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:97861336-98079991","ensembl_id":"ENSG00000158169"}},"GRch38":{"90":{"location":"9:95099054-95426796","ensembl_id":"ENSG00000158169"}}},"hgnc_date_symbol_changed":"1992-11-25"},"entity_type":"gene","entity_name":"FANCC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Fanconi anemia, complementation group C, MIM# 227645"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["LYT-10","p52","p105","NF-kB2","p49/p100"],"biotype":"protein_coding","hgnc_id":"HGNC:7795","gene_name":"nuclear factor kappa B subunit 2","omim_gene":["164012"],"alias_name":null,"gene_symbol":"NFKB2","hgnc_symbol":"NFKB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:104153867-104162281","ensembl_id":"ENSG00000077150"}},"GRch38":{"90":{"location":"10:102394110-102402529","ensembl_id":"ENSG00000077150"}}},"hgnc_date_symbol_changed":"1991-11-14"},"entity_type":"gene","entity_name":"NFKB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24140114","24888602","25524009","31417880"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency, common variable, 10 MIM# 615577","Low serum IgG, IgA, IgM","low B cell numbers","low switched memory B cells","Recurrent sinopulmonary infections, Alopecia","endocrinopathies","ACTH deficiency"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.145","version_created":"2026-03-02T21:55:19.238904+11:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TRA2.10","MGC26544","TLX"],"biotype":"protein_coding","hgnc_id":"HGNC:6953","gene_name":"CD46 molecule","omim_gene":["120920"],"alias_name":null,"gene_symbol":"CD46","hgnc_symbol":"CD46","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:207925402-207968858","ensembl_id":"ENSG00000117335"}},"GRch38":{"90":{"location":"1:207752057-207795513","ensembl_id":"ENSG00000117335"}}},"hgnc_date_symbol_changed":"2006-02-09"},"entity_type":"gene","entity_name":"CD46","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":224,"hash_id":null,"name":"Complement Deficiencies","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains all the genes that are associated with complement deficiencies.\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.2","version_created":"2025-10-30T13:50:05.331358+11:00","relevant_disorders":["Abnormality of complement system","HP:0005339"],"stats":{"number_of_genes":34,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FHR-3","HLF4","FHR3","DOWN16"],"biotype":"protein_coding","hgnc_id":"HGNC:16980","gene_name":"complement factor H related 3","omim_gene":["605336"],"alias_name":null,"gene_symbol":"CFHR3","hgnc_symbol":"CFHR3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:196743925-196763203","ensembl_id":"ENSG00000116785"}},"GRch38":{"90":{"location":"1:196774795-196795406","ensembl_id":"ENSG00000116785"}}},"hgnc_date_symbol_changed":"2006-02-28"},"entity_type":"gene","entity_name":"CFHR3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301541","32424742"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["{Hemolytic uremic syndrome, atypical, susceptibility to}, MIM# 235400"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":224,"hash_id":null,"name":"Complement Deficiencies","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains all the genes that are associated with complement deficiencies.\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.2","version_created":"2025-10-30T13:50:05.331358+11:00","relevant_disorders":["Abnormality of complement system","HP:0005339"],"stats":{"number_of_genes":34,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GIP"],"biotype":"protein_coding","hgnc_id":"HGNC:4385","gene_name":"G protein subunit alpha i2","omim_gene":["139360"],"alias_name":["GTP-binding regulatory protein Gi alpha-2 chain"],"gene_symbol":"GNAI2","hgnc_symbol":"GNAI2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:50263724-50296787","ensembl_id":"ENSG00000114353"}},"GRch38":{"90":{"location":"3:50226292-50259355","ensembl_id":"ENSG00000114353"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GNAI2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31036916","40926810","39298586"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Syndromic disease MONDO:0002254, GNAI2-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.43","version_created":"2026-04-06T13:01:39.255117+10:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":118,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HN3","PROS26"],"biotype":"protein_coding","hgnc_id":"HGNC:9541","gene_name":"proteasome subunit beta 4","omim_gene":["602177"],"alias_name":null,"gene_symbol":"PSMB4","hgnc_symbol":"PSMB4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:151372010-151374420","ensembl_id":"ENSG00000159377"}},"GRch38":{"90":{"location":"1:151399534-151401944","ensembl_id":"ENSG00000159377"}}},"hgnc_date_symbol_changed":"1995-05-03"},"entity_type":"gene","entity_name":"PSMB4","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["26524591"],"evidence":["Expert Review Amber","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591"],"mode_of_inheritance":"Other","tags":[],"panel":{"id":238,"hash_id":null,"name":"Autoinflammatory Disorders","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).","status":"public","version":"2.46","version_created":"2026-03-16T12:22:08.572710+11:00","relevant_disorders":["Fever HP:0001945;Systemic autoinflammation HP:0033428"],"stats":{"number_of_genes":108,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp761A078","SAS-6","FLJ22097","SAS6"],"biotype":"protein_coding","hgnc_id":"HGNC:25403","gene_name":"SAS-6 centriolar assembly protein","omim_gene":["609321"],"alias_name":null,"gene_symbol":"SASS6","hgnc_symbol":"SASS6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:100549119-100598511","ensembl_id":"ENSG00000156876"}},"GRch38":{"90":{"location":"1:100083563-100132955","ensembl_id":"ENSG00000156876"}}},"hgnc_date_symbol_changed":"2005-10-13"},"entity_type":"gene","entity_name":"SASS6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24951542","30639237"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Microcephaly 14, primary, autosomal recessive, MIM# 616402"],"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":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","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":["FLJ00026","FLJ00152","ZIR8","FLJ00346"],"biotype":"protein_coding","hgnc_id":"HGNC:19191","gene_name":"dedicator of cytokinesis 8","omim_gene":["611432"],"alias_name":null,"gene_symbol":"DOCK8","hgnc_symbol":"DOCK8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:214854-465259","ensembl_id":"ENSG00000107099"}},"GRch38":{"90":{"location":"9:214854-465259","ensembl_id":"ENSG00000107099"}}},"hgnc_date_symbol_changed":"2003-12-02"},"entity_type":"gene","entity_name":"DOCK8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["18060736","29930340","29191242","33455084","32978894","25435912"],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":["intellectual developmental disorder, autosomal dominant 2, MIM#614113"],"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":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","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":["CDP","CDP1","CUX","CUT","Clox","CDP/Cut","CDP/Cux","Cux/CDP","CASP","GOLIM6"],"biotype":"protein_coding","hgnc_id":"HGNC:2557","gene_name":"cut like homeobox 1","omim_gene":["116896"],"alias_name":["golgi integral membrane protein 6"],"gene_symbol":"CUX1","hgnc_symbol":"CUX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:101458959-101927249","ensembl_id":"ENSG00000257923"}},"GRch38":{"90":{"location":"7:101815904-102283957","ensembl_id":"ENSG00000257923"}}},"hgnc_date_symbol_changed":"2007-11-07"},"entity_type":"gene","entity_name":"CUX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25059644","20510857","30014507"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Global developmental delay with or without impaired intellectual development, MIM#618330"],"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":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","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":["humS6PKh1"],"biotype":"protein_coding","hgnc_id":"HGNC:10439","gene_name":"ribosomal protein S6 kinase C1","omim_gene":["617517"],"alias_name":null,"gene_symbol":"RPS6KC1","hgnc_symbol":"RPS6KC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:213224589-213448116","ensembl_id":"ENSG00000136643"}},"GRch38":{"90":{"location":"1:213051233-213274773","ensembl_id":"ENSG00000136643"}}},"hgnc_date_symbol_changed":"1999-12-14"},"entity_type":"gene","entity_name":"RPS6KC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["41130203"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460"],"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":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","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":["KIAA1381"],"biotype":"protein_coding","hgnc_id":"HGNC:6545","gene_name":"component of oligomeric golgi complex 1","omim_gene":["606973"],"alias_name":null,"gene_symbol":"COG1","hgnc_symbol":"COG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:71189129-71204646","ensembl_id":"ENSG00000166685"}},"GRch38":{"90":{"location":"17:73192632-73208507","ensembl_id":"ENSG00000166685"}}},"hgnc_date_symbol_changed":"2002-05-31"},"entity_type":"gene","entity_name":"COG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19008299","16537452"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Expert Review Green","NHS GMS","Expert list","Emory Genetics Laboratory","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type IIg 611209"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8772","gene_name":"phosphodiesterase 10A","omim_gene":["610652"],"alias_name":["cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A"],"gene_symbol":"PDE10A","hgnc_symbol":"PDE10A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:165740776-166400091","ensembl_id":"ENSG00000112541"}},"GRch38":{"90":{"location":"6:165327287-165986603","ensembl_id":"ENSG00000112541"}}},"hgnc_date_symbol_changed":"1999-07-30"},"entity_type":"gene","entity_name":"PDE10A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID 27058447"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Early onset chorea without epilepsy","infantile onset limb and orofacial dyskinesia (OMIM 616921)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ30544","bA120J8.2","TTD-A","TFB5","TFIIH","TTDA"],"biotype":"protein_coding","hgnc_id":"HGNC:21157","gene_name":"general transcription factor IIH subunit 5","omim_gene":["608780"],"alias_name":["DNA repair syndrome trichothiodystrophy group A"],"gene_symbol":"GTF2H5","hgnc_symbol":"GTF2H5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:158589384-158620376","ensembl_id":"ENSG00000272047"}},"GRch38":{"90":{"location":"6:158168352-158199344","ensembl_id":"ENSG00000272047"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"GTF2H5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert list"],"phenotypes":["Trichothiodystrophy 3, photosensitive 616395"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ARH","ARH2","FHCB1","FHCB2","MGC34705","DKFZp586D0624"],"biotype":"protein_coding","hgnc_id":"HGNC:18640","gene_name":"low density lipoprotein receptor adaptor protein 1","omim_gene":["605747"],"alias_name":null,"gene_symbol":"LDLRAP1","hgnc_symbol":"LDLRAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:25870071-25895377","ensembl_id":"ENSG00000157978"}},"GRch38":{"90":{"location":"1:25543580-25568886","ensembl_id":"ENSG00000157978"}}},"hgnc_date_symbol_changed":"2005-02-24"},"entity_type":"gene","entity_name":"LDLRAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["4351242"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Hypercholesterolemia, familial, 4, MIM# 603813"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":332,"hash_id":null,"name":"Dyslipidaemia","disease_group":"Endocrine disorders; Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes that cause dyslipidaemia, abnormal amount of lipids (e.g. triglycerides, cholesterol and/or fat phospholipids). It contains all the genes that cause hyperlipidaemias. It was developed for use by the Royal Melbourne Hospital endocrine genetics clinic.","status":"public","version":"0.51","version_created":"2026-04-03T15:42:30.681985+11:00","relevant_disorders":["Abnormal circulating lipid concentration","HP:0003119"],"stats":{"number_of_genes":29,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0328"],"biotype":"protein_coding","hgnc_id":"HGNC:428","gene_name":"ALMS1, centrosome and basal body associated protein","omim_gene":["606844"],"alias_name":null,"gene_symbol":"ALMS1","hgnc_symbol":"ALMS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:73612886-73837920","ensembl_id":"ENSG00000116127"}},"GRch38":{"90":{"location":"2:73385758-73610793","ensembl_id":"ENSG00000116127"}}},"hgnc_date_symbol_changed":"1998-10-12"},"entity_type":"gene","entity_name":"ALMS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Alstrom syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":332,"hash_id":null,"name":"Dyslipidaemia","disease_group":"Endocrine disorders; Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes that cause dyslipidaemia, abnormal amount of lipids (e.g. triglycerides, cholesterol and/or fat phospholipids). It contains all the genes that cause hyperlipidaemias. It was developed for use by the Royal Melbourne Hospital endocrine genetics clinic.","status":"public","version":"0.51","version_created":"2026-04-03T15:42:30.681985+11:00","relevant_disorders":["Abnormal circulating lipid concentration","HP:0003119"],"stats":{"number_of_genes":29,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNF69"],"biotype":"protein_coding","hgnc_id":"HGNC:8851","gene_name":"peroxisomal biogenesis factor 10","omim_gene":["602859"],"alias_name":null,"gene_symbol":"PEX10","hgnc_symbol":"PEX10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:2336236-2345236","ensembl_id":"ENSG00000157911"}},"GRch38":{"90":{"location":"1:2403964-2413797","ensembl_id":"ENSG00000157911"}}},"hgnc_date_symbol_changed":"1998-08-05"},"entity_type":"gene","entity_name":"PEX10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27230853","20695019"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Failure to thrive, facial dimorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described"],"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":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":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list","Expert Review Green","Royal Melbourne Hospital","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Muscular dystrophy, limb-girdle, type 2H, 254110"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["dJ186O1.1","DDDD","EMRE"],"biotype":"protein_coding","hgnc_id":"HGNC:25055","gene_name":"single-pass membrane protein with aspartate rich tail 1","omim_gene":["615588"],"alias_name":["essential MCU regulator"],"gene_symbol":"SMDT1","hgnc_symbol":"SMDT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:42475695-42480288","ensembl_id":"ENSG00000183172"}},"GRch38":{"90":{"location":"22:42079691-42084284","ensembl_id":"ENSG00000183172"}}},"hgnc_date_symbol_changed":"2013-03-08"},"entity_type":"gene","entity_name":"SMDT1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["37454773"],"evidence":["Expert Review Amber","Literature","Literature"],"phenotypes":["Mitochondrial disease, MONDO:0044970, SMDT1-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":[]},{"gene_data":{"alias":["Ang2"],"biotype":"protein_coding","hgnc_id":"HGNC:485","gene_name":"angiopoietin 2","omim_gene":["601922"],"alias_name":null,"gene_symbol":"ANGPT2","hgnc_symbol":"ANGPT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:6357172-6420930","ensembl_id":"ENSG00000091879"}},"GRch38":{"90":{"location":"8:6499651-6563409","ensembl_id":"ENSG00000091879"}}},"hgnc_date_symbol_changed":"1997-07-22"},"entity_type":"gene","entity_name":"ANGPT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32908006","34876502"],"evidence":["Literature","Expert Review Green","Expert Review Green","Literature"],"phenotypes":["Lymphatic malformation-10, MIM#619369","Primary lymphoedema","Hydrops"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":3098,"hash_id":null,"name":"Lymphoedema","disease_group":"Cardiovascular disorders","disease_sub_group":"Lymphatic Disorders","description":"The panel contains genes associated with nonsyndromic and syndromic lymphoedema.","status":"public","version":"0.32","version_created":"2026-02-06T22:04:55.315713+11:00","relevant_disorders":["Lymphedema","HP:0001004"],"stats":{"number_of_genes":59,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GLUT10"],"biotype":"protein_coding","hgnc_id":"HGNC:13444","gene_name":"solute carrier family 2 member 10","omim_gene":["606145"],"alias_name":null,"gene_symbol":"SLC2A10","hgnc_symbol":"SLC2A10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:45338126-45364965","ensembl_id":"ENSG00000197496"}},"GRch38":{"90":{"location":"20:46709487-46736347","ensembl_id":"ENSG00000197496"}}},"hgnc_date_symbol_changed":"2001-04-02"},"entity_type":"gene","entity_name":"SLC2A10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30071989","16550171","17935213"],"evidence":["Expert Review Green","GeneReviews"],"phenotypes":["Arterial tortuosity syndrome MIM#208050"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3129,"hash_id":null,"name":"Cutis Laxa","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where cutis laxa is a prominent feature of the condition. This panel is maintained by RMH.","status":"public","version":"1.0","version_created":"2022-10-16T18:04:47.521878+11:00","relevant_disorders":["Cutis laxa HP:0000973"],"stats":{"number_of_genes":15,"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":["HDCMA18P","PIP7S","DKFZP564K112"],"biotype":"protein_coding","hgnc_id":"HGNC:24912","gene_name":"La ribonucleoprotein domain family member 7","omim_gene":["612026"],"alias_name":["P-TEFb-interaction protein for 7SK stability"],"gene_symbol":"LARP7","hgnc_symbol":"LARP7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:113558120-113578748","ensembl_id":"ENSG00000174720"}},"GRch38":{"90":{"location":"4:112636964-112657592","ensembl_id":"ENSG00000174720"}}},"hgnc_date_symbol_changed":"2006-07-05"},"entity_type":"gene","entity_name":"LARP7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Alazami syndrome, 615071 (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":["EIF2Bepsilon","EIF-2B"],"biotype":"protein_coding","hgnc_id":"HGNC:3261","gene_name":"eukaryotic translation initiation factor 2B subunit epsilon","omim_gene":["603945"],"alias_name":null,"gene_symbol":"EIF2B5","hgnc_symbol":"EIF2B5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:183852826-184402546","ensembl_id":"ENSG00000145191"}},"GRch38":{"90":{"location":"3:184135038-184145311","ensembl_id":"ENSG00000145191"}}},"hgnc_date_symbol_changed":"1998-10-16"},"entity_type":"gene","entity_name":"EIF2B5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leukoencephalopathy with vanishing white matter, 603896 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9788","gene_name":"RAB7A, member RAS oncogene family","omim_gene":["602298"],"alias_name":null,"gene_symbol":"RAB7A","hgnc_symbol":"RAB7A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:128444965-128533639","ensembl_id":"ENSG00000075785"}},"GRch38":{"90":{"location":"3:128726122-128814796","ensembl_id":"ENSG00000075785"}}},"hgnc_date_symbol_changed":"2007-01-15"},"entity_type":"gene","entity_name":"RAB7A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Charcot-Marie-Tooth disease"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NFE1B"],"biotype":"protein_coding","hgnc_id":"HGNC:4171","gene_name":"GATA binding protein 2","omim_gene":["137295"],"alias_name":null,"gene_symbol":"GATA2","hgnc_symbol":"GATA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:128198270-128212028","ensembl_id":"ENSG00000179348"}},"GRch38":{"90":{"location":"3:128479427-128493185","ensembl_id":"ENSG00000179348"}}},"hgnc_date_symbol_changed":"1992-11-03"},"entity_type":"gene","entity_name":"GATA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 25397911, 30047422"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency 21 MIM#  614172","Emberger syndrome MIM# 614038"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FVIII","DXS1253E","HEMA"],"biotype":"protein_coding","hgnc_id":"HGNC:3546","gene_name":"coagulation factor VIII","omim_gene":["300841"],"alias_name":["Factor VIIIF8B","hemophilia A"],"gene_symbol":"F8","hgnc_symbol":"F8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:154064063-154255215","ensembl_id":"ENSG00000185010"}},"GRch38":{"90":{"location":"X:154835788-155026940","ensembl_id":"ENSG00000185010"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"F8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Hemophilia A"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9608","gene_name":"parathyroid hormone 1 receptor","omim_gene":["168468"],"alias_name":null,"gene_symbol":"PTH1R","hgnc_symbol":"PTH1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:46919236-46945287","ensembl_id":"ENSG00000160801"}},"GRch38":{"90":{"location":"3:46877746-46903799","ensembl_id":"ENSG00000160801"}}},"hgnc_date_symbol_changed":"2008-11-18"},"entity_type":"gene","entity_name":"PTH1R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Metaphyseal chondrodysplasia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SP-B"],"biotype":"protein_coding","hgnc_id":"HGNC:10801","gene_name":"surfactant protein B","omim_gene":["178640"],"alias_name":null,"gene_symbol":"SFTPB","hgnc_symbol":"SFTPB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:85884437-85895864","ensembl_id":"ENSG00000168878"}},"GRch38":{"90":{"location":"2:85657314-85668741","ensembl_id":"ENSG00000168878"}}},"hgnc_date_symbol_changed":"1988-07-06"},"entity_type":"gene","entity_name":"SFTPB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Surfactant metabolism dysfunction, pulmonary"],"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":["hEPG5"],"biotype":"protein_coding","hgnc_id":"HGNC:29331","gene_name":"ectopic P-granules autophagy protein 5 homolog","omim_gene":["615068"],"alias_name":null,"gene_symbol":"EPG5","hgnc_symbol":"EPG5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:43427574-43547240","ensembl_id":"ENSG00000152223"}},"GRch38":{"90":{"location":"18:45847609-45967274","ensembl_id":"ENSG00000152223"}}},"hgnc_date_symbol_changed":"2011-03-02"},"entity_type":"gene","entity_name":"EPG5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23222957","26927810","20583151","3344762","17163544"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","UKGTN","Expert list"],"phenotypes":["Vici syndrome, 242840"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P138-TOX","P138(TOX)","THOX2","LNOX2"],"biotype":"protein_coding","hgnc_id":"HGNC:13273","gene_name":"dual oxidase 2","omim_gene":["606759"],"alias_name":["dual oxidase-like domains 2","nicotinamide adenine dinucleotide phosphate oxidase","flavoprotein NADPH oxidase","NADPH thyroid oxidase 2","NADH/NADPH thyroid oxidase p138-tox","NADPH oxidase/peroxidase DUOX2"],"gene_symbol":"DUOX2","hgnc_symbol":"DUOX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:45384848-45406542","ensembl_id":"ENSG00000140279"}},"GRch38":{"90":{"location":"15:45092650-45114344","ensembl_id":"ENSG00000140279"}}},"hgnc_date_symbol_changed":"2000-11-09"},"entity_type":"gene","entity_name":"DUOX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24423310","16134168","27525530 (Nicholas et al.,2016) identify a monogenic and digenic basis of disease","12110737","27166716"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Thyroid dyshormonogenesis 6, 607200"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3471,"hash_id":null,"name":"Congenital hypothyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Thyroid disorders","description":"This panel contains genes associated with congenital hypothyroidism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'congenital hypothyroidism' panel V3.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.120","version_created":"2026-04-02T11:51:29.895216+11:00","relevant_disorders":["Hypothyroidism HP:0000821"],"stats":{"number_of_genes":63,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":"","publications":["21840926","38702430","29068549","34719684"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Neural tube defects 182940","Ciliopathy_MONDO_0005308, FUZ-related","skeletal ciliopathy"],"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":["MCAD","MCADH","ACAD1"],"biotype":"protein_coding","hgnc_id":"HGNC:89","gene_name":"acyl-CoA dehydrogenase medium chain","omim_gene":["607008"],"alias_name":["medium-chain acyl-CoA dehydrogenase"],"gene_symbol":"ACADM","hgnc_symbol":"ACADM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:76190036-76253260","ensembl_id":"ENSG00000117054"}},"GRch38":{"90":{"location":"1:75724347-75787575","ensembl_id":"ENSG00000117054"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ACADM","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450"],"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":["THO2","dJ506G2.1"],"biotype":"protein_coding","hgnc_id":"HGNC:19073","gene_name":"THO complex 2","omim_gene":["300395"],"alias_name":null,"gene_symbol":"THOC2","hgnc_symbol":"THOC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:122734412-122866906","ensembl_id":"ENSG00000125676"}},"GRch38":{"90":{"location":"X:123600561-123733056","ensembl_id":"ENSG00000125676"}}},"hgnc_date_symbol_changed":"2002-12-09"},"entity_type":"gene","entity_name":"THOC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26166480","32116545","29851191","32960281","34976470","37945483"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Mental retardation, X-linked 12/35 MIM#300957","Arthrogryposis (MONDO:0008779), THOC2-related"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8632","gene_name":"PBX homeobox 1","omim_gene":["176310"],"alias_name":null,"gene_symbol":"PBX1","hgnc_symbol":"PBX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:164524821-164868533","ensembl_id":"ENSG00000185630"}},"GRch38":{"90":{"location":"1:164555584-164899296","ensembl_id":"ENSG00000185630"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"PBX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28566479","29036646"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM:617641","Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MONDO:0060549"],"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":["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":["23623387","18758830","24598713"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Yunis-Varon syndrome, OMIM:216340","Yunis-Varon syndrome, MONDO:0008995","?Polymicrogyria, bilateral temporooccipital, OMIM:612691","Bilateral parasagittal parieto-occipital polymicrogyria, MONDO:0012986"],"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":["P-dlg","KIAA0583"],"biotype":"protein_coding","hgnc_id":"HGNC:2904","gene_name":"discs large MAGUK scaffold protein 5","omim_gene":["604090"],"alias_name":null,"gene_symbol":"DLG5","hgnc_symbol":"DLG5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:79550549-79686378","ensembl_id":"ENSG00000151208"}},"GRch38":{"90":{"location":"10:77790791-77926526","ensembl_id":"ENSG00000151208"}}},"hgnc_date_symbol_changed":"1999-02-23"},"entity_type":"gene","entity_name":"DLG5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32631816"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Yuksel-Vogel-Bauer syndrome, MIM#620703"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1823","MGC14797","CENP-31"],"biotype":"protein_coding","hgnc_id":"HGNC:18145","gene_name":"PHD finger protein 6","omim_gene":["300414"],"alias_name":["centromere protein 31"],"gene_symbol":"PHF6","hgnc_symbol":"PHF6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:133507283-133562820","ensembl_id":"ENSG00000156531"}},"GRch38":{"90":{"location":"X:134373253-134428791","ensembl_id":"ENSG00000156531"}}},"hgnc_date_symbol_changed":"2002-02-28"},"entity_type":"gene","entity_name":"PHF6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Borjeson-Forssman-Lehmann syndrome, OMIM # 301900"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TKT"],"biotype":"protein_coding","hgnc_id":"HGNC:2731","gene_name":"discoidin domain receptor tyrosine kinase 2","omim_gene":["191311"],"alias_name":null,"gene_symbol":"DDR2","hgnc_symbol":"DDR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:162601163-162757190","ensembl_id":"ENSG00000162733"}},"GRch38":{"90":{"location":"1:162631373-162787400","ensembl_id":"ENSG00000162733"}}},"hgnc_date_symbol_changed":"1999-06-17"},"entity_type":"gene","entity_name":"DDR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19110212, 20223752, 24725993, 31406622, 33953858, 29884795, 35221872"],"evidence":["ClinGen","Expert Review Green"],"phenotypes":["Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, MONDO:0010077"],"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":["HUP2"],"biotype":"protein_coding","hgnc_id":"HGNC:8617","gene_name":"paired box 3","omim_gene":["606597"],"alias_name":null,"gene_symbol":"PAX3","hgnc_symbol":"PAX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:223064607-223163715","ensembl_id":"ENSG00000135903"}},"GRch38":{"90":{"location":"2:222199888-222298996","ensembl_id":"ENSG00000135903"}}},"hgnc_date_symbol_changed":"1992-01-14"},"entity_type":"gene","entity_name":"PAX3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Craniofacial-deafness-hand syndrome, MIM#122880","Waardenburg syndrome, type 1, MIM#193500","Waardenburg syndrome, type 3, MIM#148820"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:4180","gene_name":"1,4-alpha-glucan branching enzyme 1","omim_gene":["607839"],"alias_name":["glycogen branching enzyme","Andersen disease","glycogen storage disease type IV"],"gene_symbol":"GBE1","hgnc_symbol":"GBE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:81538850-81811312","ensembl_id":"ENSG00000114480"}},"GRch38":{"90":{"location":"3:81489699-81762161","ensembl_id":"ENSG00000114480"}}},"hgnc_date_symbol_changed":"1993-06-21"},"entity_type":"gene","entity_name":"GBE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Glycogen storage disease IV, MIM#232500"],"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":["CARD2","K8","CK8","CYK8","K2C8","KO"],"biotype":"protein_coding","hgnc_id":"HGNC:6446","gene_name":"keratin 8","omim_gene":["148060"],"alias_name":null,"gene_symbol":"KRT8","hgnc_symbol":"KRT8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:53290977-53343738","ensembl_id":"ENSG00000170421"}},"GRch38":{"90":{"location":"12:52897187-52949954","ensembl_id":"ENSG00000170421"}}},"hgnc_date_symbol_changed":"1988-08-12"},"entity_type":"gene","entity_name":"KRT8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["12724528","11372009","15235035"],"evidence":["Expert Review Red","Mackenzie's Mission"],"phenotypes":["Cirrhosis, cryptogenic, MIM#215600"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["PIP5Kgamma","KIAA0589","LCCS3"],"biotype":"protein_coding","hgnc_id":"HGNC:8996","gene_name":"phosphatidylinositol-4-phosphate 5-kinase type 1 gamma","omim_gene":["606102"],"alias_name":null,"gene_symbol":"PIP5K1C","hgnc_symbol":"PIP5K1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:3630181-3700477","ensembl_id":"ENSG00000186111"}},"GRch38":{"90":{"location":"19:3630183-3700479","ensembl_id":"ENSG00000186111"}}},"hgnc_date_symbol_changed":"1999-12-14"},"entity_type":"gene","entity_name":"PIP5K1C","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["17701898","38491417"],"evidence":["Expert Review Amber","Mackenzie's Mission"],"phenotypes":["Lethal congenital contractural syndrome 3, 611369 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PJS","LKB1"],"biotype":"protein_coding","hgnc_id":"HGNC:11389","gene_name":"serine/threonine kinase 11","omim_gene":["602216"],"alias_name":["polarization-related protein LKB1"],"gene_symbol":"STK11","hgnc_symbol":"STK11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:1189406-1228428","ensembl_id":"ENSG00000118046"}},"GRch38":{"90":{"location":"19:1177558-1228435","ensembl_id":"ENSG00000118046"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"STK11","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["20301443"],"evidence":["Expert Review Amber","BabySeq Category A gene"],"phenotypes":["Peutz-Jeghers syndrome, MIM# 175200"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["for review","cancer","treatable"],"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":["ICHYN"],"biotype":"protein_coding","hgnc_id":"HGNC:28018","gene_name":"NIPA like domain containing 4","omim_gene":["609383"],"alias_name":["ichthyin"],"gene_symbol":"NIPAL4","hgnc_symbol":"NIPAL4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:156887027-156901725","ensembl_id":"ENSG00000172548"}},"GRch38":{"90":{"location":"5:157460019-157474717","ensembl_id":"ENSG00000172548"}}},"hgnc_date_symbol_changed":"2009-03-24"},"entity_type":"gene","entity_name":"NIPAL4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31532840"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Ichthyosis, congenital, autosomal recessive 6, MIM# 612281"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","dermatological"],"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":["FLJ10493","bA219P18.1","D4Ertd89e","TRIC-B"],"biotype":"protein_coding","hgnc_id":"HGNC:25535","gene_name":"transmembrane protein 38B","omim_gene":["611236"],"alias_name":null,"gene_symbol":"TMEM38B","hgnc_symbol":"TMEM38B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:108456825-108538893","ensembl_id":"ENSG00000095209"}},"GRch38":{"90":{"location":"9:105694544-105776612","ensembl_id":"ENSG00000095209"}}},"hgnc_date_symbol_changed":"2004-12-22"},"entity_type":"gene","entity_name":"TMEM38B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23054245","28323974"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Osteogenesis imperfecta, type XIV , MIM#615066"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","skeletal"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FAA","FA-H","FAH"],"biotype":"protein_coding","hgnc_id":"HGNC:3582","gene_name":"Fanconi anemia complementation group A","omim_gene":["607139"],"alias_name":null,"gene_symbol":"FANCA","hgnc_symbol":"FANCA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:89803957-89883065","ensembl_id":"ENSG00000187741"}},"GRch38":{"90":{"location":"16:89737549-89816657","ensembl_id":"ENSG00000187741"}}},"hgnc_date_symbol_changed":"1995-12-22"},"entity_type":"gene","entity_name":"FANCA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Fanconi anaemia, complementation group A, MIM# 227650","MONDO:0009215"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","haematological"],"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":["PMCA2"],"biotype":"protein_coding","hgnc_id":"HGNC:815","gene_name":"ATPase plasma membrane Ca2+ transporting 2","omim_gene":["108733"],"alias_name":["plasma membrane Ca2+ pump 2","plasma membrane calcium-transporting ATPase 2"],"gene_symbol":"ATP2B2","hgnc_symbol":"ATP2B2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:10365707-10749716","ensembl_id":"ENSG00000157087"}},"GRch38":{"90":{"location":"3:10324023-10708031","ensembl_id":"ENSG00000157087"}}},"hgnc_date_symbol_changed":"1992-06-26"},"entity_type":"gene","entity_name":"ATP2B2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["30535804"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Deafness, autosomal dominant 82, MIM# 619804"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:186","gene_name":"adenosine deaminase","omim_gene":["608958"],"alias_name":null,"gene_symbol":"ADA","hgnc_symbol":"ADA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:43248163-43280874","ensembl_id":"ENSG00000196839"}},"GRch38":{"90":{"location":"20:44619522-44652233","ensembl_id":"ENSG00000196839"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ADA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33974366"],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","clinical trial","immunological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["XAP2","ARA9","FKBP16"],"biotype":"protein_coding","hgnc_id":"HGNC:358","gene_name":"aryl hydrocarbon receptor interacting protein","omim_gene":["605555"],"alias_name":null,"gene_symbol":"AIP","hgnc_symbol":"AIP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:67250512-67258574","ensembl_id":"ENSG00000110711"}},"GRch38":{"90":{"location":"11:67483041-67491103","ensembl_id":"ENSG00000110711"}}},"hgnc_date_symbol_changed":"1999-01-22"},"entity_type":"gene","entity_name":"AIP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Pituitary tumor, MONDO:0017611","Pituitary gland adenoma, MONDO:0006373","Pituitary adenoma predisposition, MIM#102200"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4364,"hash_id":null,"name":"Pituitary Tumour","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with pituitary tumour. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with pituitary tumour and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.1","version_created":"2024-11-01T16:34:15.754213+11:00","relevant_disorders":[],"stats":{"number_of_genes":8,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["R51H3","Trad","HsTRAD"],"biotype":"protein_coding","hgnc_id":"HGNC:9823","gene_name":"RAD51 paralog D","omim_gene":["602954"],"alias_name":["recombination repair protein","DNA repair protein RAD51 homolog 4"],"gene_symbol":"RAD51D","hgnc_symbol":"RAD51D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:33426811-33448541","ensembl_id":"ENSG00000185379"}},"GRch38":{"90":{"location":"17:35092208-35121522","ensembl_id":"ENSG00000185379"}}},"hgnc_date_symbol_changed":"2011-07-01"},"entity_type":"gene","entity_name":"RAD51D","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Breast cancer, MONDO:0007254","RAD51D-related cancer predisposition, MONDO:0700274","Breast-ovarian cancer, familial, susceptibility to, 4, MONDO:0013669","Breast-ovarian cancer, familial, susceptibility to, 4, MIM#614291"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4375,"hash_id":null,"name":"Breast Cancer","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.19","version_created":"2026-01-12T09:35:45.451588+11:00","relevant_disorders":[],"stats":{"number_of_genes":29,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FKBP59","FKBP52"],"biotype":"protein_coding","hgnc_id":"HGNC:3720","gene_name":"FK506 binding protein 4","omim_gene":["600611"],"alias_name":null,"gene_symbol":"FKBP4","hgnc_symbol":"FKBP4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:2904119-2914576","ensembl_id":"ENSG00000004478"}},"GRch38":{"90":{"location":"12:2794953-2805423","ensembl_id":"ENSG00000004478"}}},"hgnc_date_symbol_changed":"1992-09-14"},"entity_type":"gene","entity_name":"FKBP4","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["31504499"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Recurrent pregnancy loss susceptibility, MONDO:0000144, FKBP4-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"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":["4E-T","FLJ21601","Clast4","2610509L04Rik"],"biotype":"protein_coding","hgnc_id":"HGNC:16687","gene_name":"eukaryotic translation initiation factor 4E nuclear import factor 1","omim_gene":["607445"],"alias_name":null,"gene_symbol":"EIF4ENIF1","hgnc_symbol":"EIF4ENIF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:31832963-31892094","ensembl_id":"ENSG00000184708"}},"GRch38":{"90":{"location":"22:31436977-31496108","ensembl_id":"ENSG00000184708"}}},"hgnc_date_symbol_changed":"2002-06-18"},"entity_type":"gene","entity_name":"EIF4ENIF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23902945","39827467","36030004","38604507","31810472","33095795"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Primary ovarian insufficiency, MONDO:0005387, EIF4ENIF1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"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":["MGC23980","DENNL72"],"biotype":"protein_coding","hgnc_id":"HGNC:28337","gene_name":"chromosome 9 open reading frame 72","omim_gene":["614260"],"alias_name":null,"gene_symbol":"C9orf72","hgnc_symbol":"C9orf72","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:27546544-27573864","ensembl_id":"ENSG00000147894"}},"GRch38":{"90":{"location":"9:27546545-27573866","ensembl_id":"ENSG00000147894"}}},"hgnc_date_symbol_changed":"2004-01-06"},"entity_type":"str","entity_name":"C9orf72_FTDALS_GGGGCC","confidence_level":"3","penetrance":null,"publications":["25577942","21944779","21944778"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"GGGGCC","chromosome":"9","grch37_coordinates":[27573427,27573544],"grch38_coordinates":[27573529,27573546],"normal_repeats":25,"pathogenic_repeats":60,"tags":[],"panel":{"id":25,"hash_id":null,"name":"Motor Neurone Disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"1.48","version_created":"2026-03-31T16:37:58.241144+11:00","relevant_disorders":[],"stats":{"number_of_genes":79,"number_of_strs":4,"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":[]}},{"gene_data":{"alias":["KIAA0838","GLS1"],"biotype":"protein_coding","hgnc_id":"HGNC:4331","gene_name":"glutaminase","omim_gene":["138280"],"alias_name":null,"gene_symbol":"GLS","hgnc_symbol":"GLS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:191745553-191830278","ensembl_id":"ENSG00000115419"}},"GRch38":{"90":{"location":"2:190880827-190965552","ensembl_id":"ENSG00000115419"}}},"hgnc_date_symbol_changed":"1989-02-07"},"entity_type":"str","entity_name":"GLS_GDPAG_GCA","confidence_level":"3","penetrance":null,"publications":["30970188"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","repeated_sequence":"GCA","chromosome":"2","grch37_coordinates":[191745599,191745646],"grch38_coordinates":[190880873,190880920],"normal_repeats":16,"pathogenic_repeats":400,"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":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","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":[]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2661","gene_name":"DAB1, reelin adaptor protein","omim_gene":["603448"],"alias_name":null,"gene_symbol":"DAB1","hgnc_symbol":"DAB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:57460451-59012406","ensembl_id":"ENSG00000173406"}},"GRch38":{"90":{"location":"1:56994778-58546734","ensembl_id":"ENSG00000173406"}}},"hgnc_date_symbol_changed":"1998-06-12"},"entity_type":"str","entity_name":"DAB1_SCA37_ATTTC","confidence_level":"3","penetrance":null,"publications":["28686858","31145571"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Spinocerebellar ataxia 37 MIM#615945"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"ATTTC","chromosome":"1","grch37_coordinates":[57832716,57832797],"grch38_coordinates":[57367044,57367121],"normal_repeats":0,"pathogenic_repeats":31,"tags":["adult-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":[]}}]}