{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=289","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=287","results":[{"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":"2","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["21031596"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Peroxisome biogenesis disorder 6A (Zellweger)\t(MIM#614870)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":18,"hash_id":null,"name":"Polymicrogyria and Schizencephaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nPlease consider the broader 'Malformations of cortical development' superpanel, particularly in the presence of complex or atypical imaging findings.","status":"public","version":"0.204","version_created":"2025-12-18T09:49:46.643708+11:00","relevant_disorders":["Polymicrogyria","HP:0002126;Schizencephaly","HP:0010636"],"stats":{"number_of_genes":88,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC8685","DKFZp566F223","bA506K6.1"],"biotype":"protein_coding","hgnc_id":"HGNC:30829","gene_name":"tubulin beta 2B class IIb","omim_gene":["612850"],"alias_name":["class IIb beta-tubulin"],"gene_symbol":"TUBB2B","hgnc_symbol":"TUBB2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:3224495-3231964","ensembl_id":"ENSG00000137285"}},"GRch38":{"90":{"location":"6:3224261-3231730","ensembl_id":"ENSG00000137285"}}},"hgnc_date_symbol_changed":"2005-11-03"},"entity_type":"gene","entity_name":"TUBB2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19465910","22333901","26732629","33082561"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":["Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":21,"hash_id":null,"name":"Tubulinopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nTubulinopathies refer to a wide spectrum of cortical malformations that result from defects in genes encoding the tubulin protein that regulates neuronal migration during brain development.\r\n\r\nBrain malformations include:\r\n-A range of lissencephalies (classic lissencephaly, lissencephaly with cerebellar hypoplasia, lissencephaly with agenesis of the corpus callosum, and centrally predominant pachygyria),\r\n-Polymicrogyria-like cortical dysplasia,\r\n-Simplified gyral pattern, and\r\n-Microlissencephaly often in combination with dysplastic basal ganglia, corpus callosum abnormalities, and hypoplasia or dysplasia of the brain stem and cerebellum.\r\n\r\nClinical features include motor and intellectual disabilities, epilepsy, and ocular findings of varying severity.\r\n\r\nWhere imaging and clinical features are less specific, consider applying the Malformations of Cortical Development superpanel.","status":"public","version":"1.2","version_created":"2024-09-11T12:06:06.122951+10:00","relevant_disorders":["Abnormal cortical gyration","HP:0002536"],"stats":{"number_of_genes":9,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0345","PCDH-ALPHA9"],"biotype":"protein_coding","hgnc_id":"HGNC:8675","gene_name":"protocadherin alpha 9","omim_gene":["606315"],"alias_name":["KIAA0345-like 5"],"gene_symbol":"PCDHA9","hgnc_symbol":"PCDHA9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:140227048-140391929","ensembl_id":"ENSG00000204961"}},"GRch38":{"90":{"location":"5:140847463-141012344","ensembl_id":"ENSG00000204961"}}},"hgnc_date_symbol_changed":"2000-06-28"},"entity_type":"gene","entity_name":"PCDHA9","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["38467605"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["amyotrophic lateral sclerosis MONDO:0004976"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0062","NET34","ZIP14"],"biotype":"protein_coding","hgnc_id":"HGNC:20858","gene_name":"solute carrier family 39 member 14","omim_gene":["608736"],"alias_name":null,"gene_symbol":"SLC39A14","hgnc_symbol":"SLC39A14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:22224762-22291642","ensembl_id":"ENSG00000104635"}},"GRch38":{"90":{"location":"8:22367249-22434129","ensembl_id":"ENSG00000104635"}}},"hgnc_date_symbol_changed":"2003-10-23"},"entity_type":"gene","entity_name":"SLC39A14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27231142","32626807","29685658","30232769"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Hypermanganesemia with dystonia 2 (MIM# 617013)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":26,"hash_id":null,"name":"Early-onset Parkinson disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"2.51","version_created":"2026-03-30T11:47:22.375379+11:00","relevant_disorders":["Abnormality of extrapyramidal motor function","HP:0002071"],"stats":{"number_of_genes":129,"number_of_strs":14,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP434P106","dJ965G21.2","BEM46L2","ABHD12A"],"biotype":"protein_coding","hgnc_id":"HGNC:15868","gene_name":"abhydrolase domain containing 12","omim_gene":["613599"],"alias_name":null,"gene_symbol":"ABHD12","hgnc_symbol":"ABHD12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:25275379-25371619","ensembl_id":"ENSG00000100997"}},"GRch38":{"90":{"location":"20:25294743-25390983","ensembl_id":"ENSG00000100997"}}},"hgnc_date_symbol_changed":"2006-03-10"},"entity_type":"gene","entity_name":"ABHD12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32077159","29571850","28448692","24697911"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["JAM-C","JAMC"],"biotype":"protein_coding","hgnc_id":"HGNC:15532","gene_name":"junctional adhesion molecule 3","omim_gene":["606871"],"alias_name":null,"gene_symbol":"JAM3","hgnc_symbol":"JAM3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:133938820-134021896","ensembl_id":"ENSG00000166086"}},"GRch38":{"90":{"location":"11:134068925-134152001","ensembl_id":"ENSG00000166086"}}},"hgnc_date_symbol_changed":"2001-04-26"},"entity_type":"gene","entity_name":"JAM3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23255084","21109224"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8905","gene_name":"phosphoglucomutase 1","omim_gene":["171900"],"alias_name":null,"gene_symbol":"PGM1","hgnc_symbol":"PGM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:64058947-64125916","ensembl_id":"ENSG00000079739"}},"GRch38":{"90":{"location":"1:63593276-63660245","ensembl_id":"ENSG00000079739"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PGM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24499211"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type It 614921"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":68,"hash_id":null,"name":"Congenital Disorders of Glycosylation","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital Disorders of Glycosylation' panel v2.4 with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.85","version_created":"2026-04-02T10:46:27.496905+11:00","relevant_disorders":["Abnormal transferrin saturation","HP:0040135"],"stats":{"number_of_genes":141,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7370","gene_name":"MSL complex subunit 3","omim_gene":["300609"],"alias_name":null,"gene_symbol":"MSL3","hgnc_symbol":"MSL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:11776278-11793870","ensembl_id":"ENSG00000005302"}},"GRch38":{"90":{"location":"X:11758159-11775753","ensembl_id":"ENSG00000005302"}}},"hgnc_date_symbol_changed":"2008-10-29"},"entity_type":"gene","entity_name":"MSL3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33173220"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Basilicata-Akhtar syndrome, OMIM # 301032"],"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":72,"hash_id":null,"name":"Cerebellar and Pontocerebellar Hypoplasia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the panels used by VCGS and RMH and is a consensus panel maintained by both.","status":"public","version":"1.100","version_created":"2026-04-02T11:42:58.167964+11:00","relevant_disorders":["Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879"],"stats":{"number_of_genes":122,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Dnchc1","HL-3","p22","DHC1","CMT2O"],"biotype":"protein_coding","hgnc_id":"HGNC:2961","gene_name":"dynein cytoplasmic 1 heavy chain 1","omim_gene":["600112"],"alias_name":null,"gene_symbol":"DYNC1H1","hgnc_symbol":"DYNC1H1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:102430865-102517129","ensembl_id":"ENSG00000197102"}},"GRch38":{"90":{"location":"14:101964528-102050792","ensembl_id":"ENSG00000197102"}}},"hgnc_date_symbol_changed":"2005-11-24"},"entity_type":"gene","entity_name":"DYNC1H1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33528536","25817843"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cortical dysplasia, complex MIM#614563"],"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":["P85B","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8980","gene_name":"phosphoinositide-3-kinase regulatory subunit 2","omim_gene":["603157"],"alias_name":["phosphoinositide-3-kinase regulatory subunit beta"],"gene_symbol":"PIK3R2","hgnc_symbol":"PIK3R2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:18263928-18281350","ensembl_id":"ENSG00000105647"}},"GRch38":{"90":{"location":"19:18153118-18170540","ensembl_id":"ENSG00000105647"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"Other","publications":["PMID: 38553553"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM#603387"],"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":["FLJ10879","StIP"],"biotype":"protein_coding","hgnc_id":"HGNC:18248","gene_name":"elongator acetyltransferase complex subunit 2","omim_gene":["616054"],"alias_name":null,"gene_symbol":"ELP2","hgnc_symbol":"ELP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:33709407-33757909","ensembl_id":"ENSG00000134759"}},"GRch38":{"90":{"location":"18:36129444-36180556","ensembl_id":"ENSG00000134759"}}},"hgnc_date_symbol_changed":"2007-04-20"},"entity_type":"gene","entity_name":"ELP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25131622","33976153"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder MIM#617270"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["MRG1"],"biotype":"protein_coding","hgnc_id":"HGNC:1987","gene_name":"Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2","omim_gene":["602937"],"alias_name":null,"gene_symbol":"CITED2","hgnc_symbol":"CITED2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:139693393-139695757","ensembl_id":"ENSG00000164442"}},"GRch38":{"90":{"location":"6:139371807-139374620","ensembl_id":"ENSG00000164442"}}},"hgnc_date_symbol_changed":"1999-06-11"},"entity_type":"gene","entity_name":"CITED2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11694877","16287139"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Atrial septal defect 8, 614433","Ventricular septal defect 2, 614431"],"mode_of_inheritance":"MONOALLELIC, autosomal 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Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["JBTS14"],"biotype":"protein_coding","hgnc_id":"HGNC:14432","gene_name":"transmembrane protein 237","omim_gene":["614423"],"alias_name":null,"gene_symbol":"TMEM237","hgnc_symbol":"TMEM237","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:202484907-202508293","ensembl_id":"ENSG00000155755"}},"GRch38":{"90":{"location":"2:201620184-201643570","ensembl_id":"ENSG00000155755"}}},"hgnc_date_symbol_changed":"2011-05-20"},"entity_type":"gene","entity_name":"TMEM237","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22152675"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 14, MIM# 614424"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":84,"hash_id":null,"name":"Ciliopathies","disease_group":"Dysmorphic and congenital abnormality 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and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.","status":"public","version":"1.27","version_created":"2026-03-08T22:19:30.435795+11:00","relevant_disorders":["Abnormal blistering of the skin","HP:0008066"],"stats":{"number_of_genes":46,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SCAD","ACAD3"],"biotype":"protein_coding","hgnc_id":"HGNC:90","gene_name":"acyl-CoA dehydrogenase short chain","omim_gene":["606885"],"alias_name":null,"gene_symbol":"ACADS","hgnc_symbol":"ACADS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:121163538-121177811","ensembl_id":"ENSG00000122971"}},"GRch38":{"90":{"location":"12:120725735-120740008","ensembl_id":"ENSG00000122971"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ACADS","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470","MONDO:0008722"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":103,"hash_id":null,"name":"Fatty Acid Oxidation Defects","disease_group":"Metabolic disorders","disease_sub_group":"","description":"Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism caused by disruption of either mitochondrial β-oxidation or the fatty acid transport using the carnitine transport pathway. The clinical presentation of a FAOD depends on the specific disorder, but commonly includes cardiomyopathy in the newborn period, liver dysfunction and hypoketotic hypoglycaemia during infancy and childhood, and episodic rhabdomyolysis during or after adolescence.\r\n\r\nThis panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt incorporates assessments by the ClinGen Fatty Acid Oxidation Disorders Working Group, McGlaughon et al 2019, PMID: 31399326.","status":"public","version":"1.15","version_created":"2025-11-20T16:48:15.748218+11:00","relevant_disorders":["Abnormal circulating fatty acid concentration","HP:0004359; Rhabdomyolysis","HP:0003201; Hypoglycaemia","HP:0001943"],"stats":{"number_of_genes":33,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC25497"],"biotype":"protein_coding","hgnc_id":"HGNC:23297","gene_name":"potassium channel tetramerization domain containing 15","omim_gene":["615240"],"alias_name":null,"gene_symbol":"KCTD15","hgnc_symbol":"KCTD15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:34286838-34306668","ensembl_id":"ENSG00000153885"}},"GRch38":{"90":{"location":"19:33795933-33815763","ensembl_id":"ENSG00000153885"}}},"hgnc_date_symbol_changed":"2003-11-05"},"entity_type":"gene","entity_name":"KCTD15","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["38296633"],"evidence":["Expert Review Amber","Literature","Literature"],"phenotypes":["frontonasal dysplasia, MONDO:0016643"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":104,"hash_id":null,"name":"Frontonasal dysplasia","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 frontonasal dysplasia, a craniofacial disorder defined as 2 or more of the following:\r\n(1) true ocular hypertelorism;\r\n(2) broadening of the nasal root;\r\n(3) median facial cleft affecting the nose and/or upper lip and palate;\r\n(4) unilateral or bilateral clefting of the alae nasi;\r\n(5) lack of formation of the nasal tip;\r\n(6) anterior cranium bifidum occultum; and \r\n(7) a V-shaped or widow's peak frontal hairline.","status":"public","version":"1.3","version_created":"2025-10-26T17:18:38.360530+11:00","relevant_disorders":["Midline defect of the nose","HP:0004122; Midline facial cleft","HP:0100629; Cranium bifidum occultum","HP:0004423"],"stats":{"number_of_genes":9,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"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":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ22031","FLJ14927","KIAA1500"],"biotype":"protein_coding","hgnc_id":"HGNC:19185","gene_name":"Fraser extracellular matrix complex subunit 1","omim_gene":["607830"],"alias_name":null,"gene_symbol":"FRAS1","hgnc_symbol":"FRAS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:78978724-79465423","ensembl_id":"ENSG00000138759"}},"GRch38":{"90":{"location":"4:78057570-78544269","ensembl_id":"ENSG00000138759"}}},"hgnc_date_symbol_changed":"2003-02-25"},"entity_type":"gene","entity_name":"FRAS1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["27859469"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Fraser syndrome 1, MIM#\t219000"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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. 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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":["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":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. 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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":["GAR17"],"biotype":null,"hgnc_id":"HGNC:24846","gene_name":"growth arrest specific 2 like 2","omim_gene":["611398"],"alias_name":null,"gene_symbol":"GAS2L2","hgnc_symbol":"GAS2L2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:34071530-34079897","ensembl_id":"ENSG00000132139"}},"GRch38":{"90":{"location":"17:35744511-35752878","ensembl_id":"ENSG00000270765"}}},"hgnc_date_symbol_changed":"2004-06-28"},"entity_type":"gene","entity_name":"GAS2L2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["30665704"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 41 (MIM # 618449)"],"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. 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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:10906","gene_name":"solute carrier family 10 member 2","omim_gene":["601295"],"alias_name":null,"gene_symbol":"SLC10A2","hgnc_symbol":"SLC10A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:103696350-103719196","ensembl_id":"ENSG00000125255"}},"GRch38":{"90":{"location":"13:103043998-103066846","ensembl_id":"ENSG00000125255"}}},"hgnc_date_symbol_changed":"1995-10-24"},"entity_type":"gene","entity_name":"SLC10A2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["9109432"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Bile acid malabsorption, primary, MIM# 613291"],"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. 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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":["GluA1","GLURA"],"biotype":"protein_coding","hgnc_id":"HGNC:4571","gene_name":"glutamate ionotropic receptor AMPA type subunit 1","omim_gene":["138248"],"alias_name":null,"gene_symbol":"GRIA1","hgnc_symbol":"GRIA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:152869175-153193429","ensembl_id":"ENSG00000155511"}},"GRch38":{"90":{"location":"5:153489615-153813869","ensembl_id":"ENSG00000155511"}}},"hgnc_date_symbol_changed":"1992-02-13"},"entity_type":"gene","entity_name":"GRIA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35675825","38890806","37921875"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Intellectual developmental disorder, autosomal dominant 67, MIM# 619927"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. 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This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC10922","DKFZP762D096","NBIA4","MPAN"],"biotype":"protein_coding","hgnc_id":"HGNC:25443","gene_name":"chromosome 19 open reading frame 12","omim_gene":["614297"],"alias_name":["neurodegeneration with brain iron accumulation 4","membrane protein-associated neurodegeneration"],"gene_symbol":"C19orf12","hgnc_symbol":"C19orf12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:30191721-30206364","ensembl_id":"ENSG00000131943"}},"GRch38":{"90":{"location":"19:29698886-29715789","ensembl_id":"ENSG00000131943"}}},"hgnc_date_symbol_changed":"2004-02-11"},"entity_type":"gene","entity_name":"C19orf12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21981780","22508347"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["neurodegeneration with brain iron accumulation 4 MONDO:0013674"],"mode_of_inheritance":"BOTH monoallelic and 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. 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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":["FLJ12660","IND1","huInd1"],"biotype":"protein_coding","hgnc_id":"HGNC:20278","gene_name":"nucleotide binding protein like","omim_gene":["613621"],"alias_name":["iron-sulfur protein required for NADH dehydrogenase"],"gene_symbol":"NUBPL","hgnc_symbol":"NUBPL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:31959162-32330430","ensembl_id":"ENSG00000151413"}},"GRch38":{"90":{"location":"14:31489956-31861224","ensembl_id":"ENSG00000151413"}}},"hgnc_date_symbol_changed":"2005-01-07"},"entity_type":"gene","entity_name":"NUBPL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Mitochondrial complex I deficiency","Mitochondrial Leukoencephalopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SERCA1"],"biotype":"protein_coding","hgnc_id":"HGNC:811","gene_name":"ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1","omim_gene":["108730"],"alias_name":["sarcoplasmic/endoplasmic reticulum calcium ATPase 1","calcium pump 1"],"gene_symbol":"ATP2A1","hgnc_symbol":"ATP2A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:28889726-28915830","ensembl_id":"ENSG00000196296"}},"GRch38":{"90":{"location":"16:28878405-28904509","ensembl_id":"ENSG00000196296"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"ATP2A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32040565"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Brody myopathy 601003"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":302,"hash_id":null,"name":"Skeletal Muscle Channelopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that encode skeletal muscle channel proteins, and associated with malignant hyperthermia and periodic paralysis (hyperkalemic, hypokalemic/thyrotoxic, normokalemic potassium-sensitive)/congenital myotonia. It is maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp \"Skeletal Muscle Channelopathy\" panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 20/8/20.","status":"public","version":"1.3","version_created":"2026-01-04T18:02:13.252564+11:00","relevant_disorders":["Periodic paralysis","HP:0003768; Myotonia","HP:0002486"],"stats":{"number_of_genes":13,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["trnP"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7494","gene_name":"mitochondrially encoded tRNA proline","omim_gene":["590075"],"alias_name":null,"gene_symbol":"MT-TP","hgnc_symbol":"MT-TP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:15956-16023","ensembl_id":"ENSG00000210196"}},"GRch38":{"90":{"location":"MT:15956-16023","ensembl_id":"ENSG00000210196"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["7689388","11196116","19223931","23696415","19273760","27536729","27816331","32305257","32419253"],"evidence":["Expert list","Expert Review Green","Expert Review Red","Expert Review Green","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TP-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"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":["FLJ30681","KIAA1983"],"biotype":"protein_coding","hgnc_id":"HGNC:29426","gene_name":"collagen and calcium binding EGF domains 1","omim_gene":["612753"],"alias_name":null,"gene_symbol":"CCBE1","hgnc_symbol":"CCBE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:57098172-57364612","ensembl_id":"ENSG00000183287"}},"GRch38":{"90":{"location":"18:59430940-59697380","ensembl_id":"ENSG00000183287"}}},"hgnc_date_symbol_changed":"2005-01-18"},"entity_type":"gene","entity_name":"CCBE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London South GLH","Expert Review Green","UKGTN","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Hennekam Lymphangiectasia-Lymphedema Syndrome","Hennekam lymphangiectasia-lymphedema syndrome, 235510"],"mode_of_inheritance":"BIALLELIC, 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":null},{"gene_data":{"alias":["ADAMTS-3","hPCPNI","PCINP","ADAM-TS2","NPI"],"biotype":"protein_coding","hgnc_id":"HGNC:218","gene_name":"ADAM metallopeptidase with thrombospondin type 1 motif 2","omim_gene":["604539"],"alias_name":["procollagen I N-proteinase","procollagen N-endopeptidase"],"gene_symbol":"ADAMTS2","hgnc_symbol":"ADAMTS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:178537852-178772431","ensembl_id":"ENSG00000087116"}},"GRch38":{"90":{"location":"5:179110851-179345430","ensembl_id":"ENSG00000087116"}}},"hgnc_date_symbol_changed":"1999-04-15"},"entity_type":"gene","entity_name":"ADAMTS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ehlers-Danlos syndrome, type VIIC, 225410 (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":["CMG2","CMG-2","FLJ31074"],"biotype":"protein_coding","hgnc_id":"HGNC:21732","gene_name":"anthrax toxin receptor 2","omim_gene":["608041"],"alias_name":["capillary morphogenesis protein 2"],"gene_symbol":"ANTXR2","hgnc_symbol":"ANTXR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:80822303-81046608","ensembl_id":"ENSG00000163297"}},"GRch38":{"90":{"location":"4:79901149-80125454","ensembl_id":"ENSG00000163297"}}},"hgnc_date_symbol_changed":"2003-09-25"},"entity_type":"gene","entity_name":"ANTXR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hyaline fibromatosis syndrome, 228600 (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":["MGC27091"],"biotype":"protein_coding","hgnc_id":"HGNC:23752","gene_name":"ceramide synthase 3","omim_gene":["615276"],"alias_name":null,"gene_symbol":"CERS3","hgnc_symbol":"CERS3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:100940600-101085200","ensembl_id":"ENSG00000154227"}},"GRch38":{"90":{"location":"15:100400395-100544995","ensembl_id":"ENSG00000154227"}}},"hgnc_date_symbol_changed":"2011-07-08"},"entity_type":"gene","entity_name":"CERS3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ichthyosis, congenital, autosomal recessive 9, 615023 (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":["FLJ20561","HsT18960","nclf"],"biotype":"protein_coding","hgnc_id":"HGNC:2077","gene_name":"CLN6, transmembrane ER protein","omim_gene":["606725"],"alias_name":null,"gene_symbol":"CLN6","hgnc_symbol":"CLN6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:68499330-68549549","ensembl_id":"ENSG00000128973"}},"GRch38":{"90":{"location":"15:68206992-68257211","ensembl_id":"ENSG00000128973"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"CLN6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ceroid lipofuscinosis, neuronal 6, 601780 (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":["BP180"],"biotype":"protein_coding","hgnc_id":"HGNC:2194","gene_name":"collagen type XVII alpha 1 chain","omim_gene":["113811"],"alias_name":null,"gene_symbol":"COL17A1","hgnc_symbol":"COL17A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:105791044-105845760","ensembl_id":"ENSG00000065618"}},"GRch38":{"90":{"location":"10:104031286-104086002","ensembl_id":"ENSG00000065618"}}},"hgnc_date_symbol_changed":"1993-09-27"},"entity_type":"gene","entity_name":"COL17A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (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":["SDR36C1"],"biotype":"protein_coding","hgnc_id":"HGNC:5154","gene_name":"15-hydroxyprostaglandin dehydrogenase","omim_gene":["601688"],"alias_name":["short chain dehydrogenase/reductase family 36C, member 1","15-hydroxyprostaglandin dehydrogenase (NAD(+))"],"gene_symbol":"HPGD","hgnc_symbol":"HPGD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:175411328-175444305","ensembl_id":"ENSG00000164120"}},"GRch38":{"90":{"location":"4:174490177-174523154","ensembl_id":"ENSG00000164120"}}},"hgnc_date_symbol_changed":"1991-07-16"},"entity_type":"gene","entity_name":"HPGD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Cranioosteoarthropathy, 259100 (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":["MCD","hMCD"],"biotype":"protein_coding","hgnc_id":"HGNC:7150","gene_name":"malonyl-CoA decarboxylase","omim_gene":["606761"],"alias_name":null,"gene_symbol":"MLYCD","hgnc_symbol":"MLYCD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:83932731-83949787","ensembl_id":"ENSG00000103150"}},"GRch38":{"90":{"location":"16:83899126-83927026","ensembl_id":"ENSG00000103150"}}},"hgnc_date_symbol_changed":"2000-02-11"},"entity_type":"gene","entity_name":"MLYCD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Malonyl-CoA decarboxylase deficiency, 248360 (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. 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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":["CGI-87","TTC-15"],"biotype":"protein_coding","hgnc_id":"HGNC:24284","gene_name":"trafficking protein particle complex 12","omim_gene":["614139"],"alias_name":null,"gene_symbol":"TRAPPC12","hgnc_symbol":"TRAPPC12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:3383446-3488865","ensembl_id":"ENSG00000171853"}},"GRch38":{"90":{"location":"2:3379675-3485094","ensembl_id":"ENSG00000171853"}}},"hgnc_date_symbol_changed":"2011-12-12"},"entity_type":"gene","entity_name":"TRAPPC12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28777934","32347653"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Hydrocephaly","Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669","Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696"],"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":["hFKBP65","FLJ22041","FKBP6","FLJ20683","FLJ23833"],"biotype":"protein_coding","hgnc_id":"HGNC:18169","gene_name":"FK506 binding protein 10","omim_gene":["607063"],"alias_name":null,"gene_symbol":"FKBP10","hgnc_symbol":"FKBP10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:39968932-39979465","ensembl_id":"ENSG00000141756"}},"GRch38":{"90":{"location":"17:41812680-41823217","ensembl_id":"ENSG00000141756"}}},"hgnc_date_symbol_changed":"2002-03-12"},"entity_type":"gene","entity_name":"FKBP10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20362275","22718341","22689593","22718341"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Bruck syndrome MIM#259450","osteogenesis imperfecta, type XI, MIM#610968"],"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. 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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":["KIAA0249"],"biotype":"protein_coding","hgnc_id":"HGNC:14450","gene_name":"lipin 2","omim_gene":["605519"],"alias_name":null,"gene_symbol":"LPIN2","hgnc_symbol":"LPIN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:2916992-3013313","ensembl_id":"ENSG00000101577"}},"GRch38":{"90":{"location":"18:2916994-3013315","ensembl_id":"ENSG00000101577"}}},"hgnc_date_symbol_changed":"2001-01-24"},"entity_type":"gene","entity_name":"LPIN2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Majeed syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; 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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":["MGC40214"],"biotype":"protein_coding","hgnc_id":"HGNC:28625","gene_name":"NADH:ubiquinone oxidoreductase complex assembly factor 6","omim_gene":["612392"],"alias_name":null,"gene_symbol":"NDUFAF6","hgnc_symbol":"NDUFAF6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:95907995-96128683","ensembl_id":"ENSG00000156170"}},"GRch38":{"90":{"location":"8:94895767-95116455","ensembl_id":"ENSG00000156170"}}},"hgnc_date_symbol_changed":"2012-05-08"},"entity_type":"gene","entity_name":"NDUFAF6","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["27466185"],"evidence":["Expert list","Expert Review Amber","Expert Review Amber","Expert list"],"phenotypes":["Fanconi renotubular syndrome 5, MIM#\t618913"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; 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Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SUFUH","SUFUXL","PRO1280"],"biotype":"protein_coding","hgnc_id":"HGNC:16466","gene_name":"SUFU negative regulator of hedgehog signaling","omim_gene":["607035"],"alias_name":null,"gene_symbol":"SUFU","hgnc_symbol":"SUFU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:104263744-104393292","ensembl_id":"ENSG00000107882"}},"GRch38":{"90":{"location":"10:102503987-102633535","ensembl_id":"ENSG00000107882"}}},"hgnc_date_symbol_changed":"2001-08-28"},"entity_type":"gene","entity_name":"SUFU","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 20301330"],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Basal cell carcinoma, MONDO:0020804","Basal cell nevus syndrome 2, MONDO:0958189","Basal cell nevus syndrome 2, MIM#620343","Meningioma, familial, susceptibility to, MIM#607174","Medulloblastoma predisposition syndrome, MIM#155255"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4360,"hash_id":null,"name":"Basal Cell Cancer","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with basal cell cancer. \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 basal cell cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.1","version_created":"2024-11-01T16:26:31.314601+11:00","relevant_disorders":[],"stats":{"number_of_genes":3,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:15533","gene_name":"sprouty RTK signaling antagonist 4","omim_gene":["607984"],"alias_name":null,"gene_symbol":"SPRY4","hgnc_symbol":"SPRY4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:141689992-141706020","ensembl_id":"ENSG00000187678"}},"GRch38":{"90":{"location":"5:142310427-142326455","ensembl_id":"ENSG00000187678"}}},"hgnc_date_symbol_changed":"2002-01-22"},"entity_type":"gene","entity_name":"SPRY4","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["23643382"],"evidence":["Expert list","Expert Review Amber","Expert Review Amber","Expert list"],"phenotypes":["Hypogonadotropic hypogonadism 17 with or without anosmia, MIM#\t615266"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"panel":{"id":4521,"hash_id":null,"name":"Hypogonadotropic hypogonadism","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.","status":"public","version":"0.111","version_created":"2026-04-04T15:37:44.052003+11:00","relevant_disorders":[],"stats":{"number_of_genes":83,"number_of_strs":0,"number_of_regions":1},"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":[]},{"gene_data":{"alias":["HPE5"],"biotype":"protein_coding","hgnc_id":"HGNC:12873","gene_name":"Zic family member 2","omim_gene":["603073"],"alias_name":["Zinc finger protein of the cerebellum 2"],"gene_symbol":"ZIC2","hgnc_symbol":"ZIC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:100634026-100639018","ensembl_id":"ENSG00000043355"}},"GRch38":{"90":{"location":"13:99981772-99986773","ensembl_id":"ENSG00000043355"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"str","entity_name":"ZIC2_HPE5_GCN","confidence_level":"3","penetrance":null,"publications":["11285244","33811808"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Holoprosencephaly 5 MIM#609637"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"GCN","chromosome":"13","grch37_coordinates":[100637703,100637747],"grch38_coordinates":[99985449,99985493],"normal_repeats":15,"pathogenic_repeats":25,"tags":["paediatric-onset"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4736","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":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}}]}