{"count":36039,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=101","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=99","results":[{"gene_data":{"alias":["KIAA0693","CREST"],"biotype":"protein_coding","hgnc_id":"HGNC:15592","gene_name":"SS18L1, nBAF chromatin remodeling complex subunit","omim_gene":["606472"],"alias_name":["calcium-responsive transactivator"],"gene_symbol":"SS18L1","hgnc_symbol":"SS18L1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:60718822-60757540","ensembl_id":"ENSG00000184402"}},"GRch38":{"90":{"location":"20:62143795-62182484","ensembl_id":"ENSG00000184402"}}},"hgnc_date_symbol_changed":"2001-04-26"},"entity_type":"gene","entity_name":"SS18L1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["25888396","24360741","23708140","30976389"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["amyotrophic lateral sclerosis (MONDO:0004976)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["EVEC","UP50","DANCE","ARMD3"],"biotype":"protein_coding","hgnc_id":"HGNC:3602","gene_name":"fibulin 5","omim_gene":["604580"],"alias_name":null,"gene_symbol":"FBLN5","hgnc_symbol":"FBLN5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:92335756-92414331","ensembl_id":"ENSG00000140092"}},"GRch38":{"90":{"location":"14:91869412-91947987","ensembl_id":"ENSG00000140092"}}},"hgnc_date_symbol_changed":"1999-06-25"},"entity_type":"gene","entity_name":"FBLN5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["3232707","22829427","11805835"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cutis laxa, autosomal recessive, type IA, MIM#\t219100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":44,"hash_id":null,"name":"Aortopathy_Connective Tissue Disorders","disease_group":"Cardiovascular 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Genomics England PanelApp 'Arrhythmogenic Cardiomyopathy' panel and against the current gene-disease curations by the ClinGen ARVC group, 03/08/2020.","status":"public","version":"1.0","version_created":"2026-03-24T16:23:29.666707+11:00","relevant_disorders":["Arrhythmia","HP:0011675;Cardiomyopathy","HP:0001638"],"stats":{"number_of_genes":19,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FREAC8"],"biotype":"protein_coding","hgnc_id":"HGNC:3808","gene_name":"forkhead box 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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":["S7"],"biotype":"protein_coding","hgnc_id":"HGNC:10440","gene_name":"ribosomal protein 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leads to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.","status":"public","version":"1.141","version_created":"2026-03-17T18:48:23.244194+11:00","relevant_disorders":["Abnormality of multiple cell lineages of the bone marrow","HP:0012145"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Lak","FLJ22670","KIAA1527"],"biotype":"protein_coding","hgnc_id":"HGNC:20917","gene_name":"alpha kinase 1","omim_gene":["607347"],"alias_name":["lymphocyte alpha-kinase"],"gene_symbol":"ALPK1","hgnc_symbol":"ALPK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:113206665-113363776","ensembl_id":"ENSG00000073331"}},"GRch38":{"90":{"location":"4:112285509-112442620","ensembl_id":"ENSG00000073331"}}},"hgnc_date_symbol_changed":"2004-12-01"},"entity_type":"gene","entity_name":"ALPK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Literature"],"phenotypes":["ROSAH syndrome, MIM#\t614979"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":58,"hash_id":null,"name":"Brain Calcification","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Primary brain calcification disorders are characterised by abnormal deposits of calcium in blood vessels within the brain, particularly the basal ganglia. They typically present with movement disorders and psychiatric or behavioural problems. This panel also contains other multi-system conditions where brain calcification can occur as part of the phenotype.\r\n\r\nThis panel was developed and is maintained by VCGS.\r\n\r\nThe panel has been compared against the Genomics England PanelApp Intracerebral Calcifications panel V1.27 with all discrepancies resolved and reciprocal feedback provided to Genomics England.\r\n\r\nUpdated December 2025 following literature review.","status":"public","version":"2.6","version_created":"2026-01-08T18:01:53.861975+11:00","relevant_disorders":["Cerebral calcification","HP:0002514"],"stats":{"number_of_genes":96,"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":["OCI-5","SGBS","SGBS1","SGB","DGSX"],"biotype":"protein_coding","hgnc_id":"HGNC:4451","gene_name":"glypican 3","omim_gene":["300037"],"alias_name":["glypican proteoglycan 3"],"gene_symbol":"GPC3","hgnc_symbol":"GPC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:132669773-133119922","ensembl_id":"ENSG00000147257"}},"GRch38":{"90":{"location":"X:133535745-133985895","ensembl_id":"ENSG00000147257"}}},"hgnc_date_symbol_changed":"1996-08-08"},"entity_type":"gene","entity_name":"GPC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2553","gene_name":"cullin 3","omim_gene":["603136"],"alias_name":null,"gene_symbol":"CUL3","hgnc_symbol":"CUL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:225334867-225450110","ensembl_id":"ENSG00000036257"}},"GRch38":{"90":{"location":"2:224470150-224585397","ensembl_id":"ENSG00000036257"}}},"hgnc_date_symbol_changed":"1998-10-29"},"entity_type":"gene","entity_name":"CUL3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodevelopmental disorder with or without autism or seizures, MIM#619239, Pseudohypoaldosteronism, type IIE, MIM#614496"],"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":["EEF1AL","HS1"],"biotype":"protein_coding","hgnc_id":"HGNC:3192","gene_name":"eukaryotic translation elongation factor 1 alpha 2","omim_gene":["602959"],"alias_name":null,"gene_symbol":"EEF1A2","hgnc_symbol":"EEF1A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:62119366-62130505","ensembl_id":"ENSG00000101210"}},"GRch38":{"90":{"location":"20:63488013-63499315","ensembl_id":"ENSG00000101210"}}},"hgnc_date_symbol_changed":"1995-08-15"},"entity_type":"gene","entity_name":"EEF1A2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33528536","30109124","32196822"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Developmental and epileptic encephalopathy MIM#616409"],"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":["PIGEA14","PIGEA-14","Chibby","Cby"],"biotype":"protein_coding","hgnc_id":"HGNC:1307","gene_name":"chibby family member 1, beta catenin antagonist","omim_gene":["607757"],"alias_name":["chibby CTNNB1-mediated transcription inhibitor"],"gene_symbol":"CBY1","hgnc_symbol":"CBY1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:39052641-39069859","ensembl_id":"ENSG00000100211"}},"GRch38":{"90":{"location":"22:38656636-38673854","ensembl_id":"ENSG00000100211"}}},"hgnc_date_symbol_changed":"2007-01-26"},"entity_type":"gene","entity_name":"CBY1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33131181","25103236","25220153"],"evidence":["Expert Review Green","Literature"],"phenotypes":["intellectual disability","cerebellar ataxia","molar tooth sign","polydactyly","Joubert syndrome"],"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":[]},{"gene_data":{"alias":["ENTK","MGC133046"],"biotype":"protein_coding","hgnc_id":"HGNC:9490","gene_name":"transmembrane protease, serine 15","omim_gene":["606635"],"alias_name":["proenterokinase","enteropeptidase"],"gene_symbol":"TMPRSS15","hgnc_symbol":"TMPRSS15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:19641433-19858197","ensembl_id":"ENSG00000154646"}},"GRch38":{"90":{"location":"21:18269116-18485879","ensembl_id":"ENSG00000154646"}}},"hgnc_date_symbol_changed":"2010-04-21"},"entity_type":"gene","entity_name":"TMPRSS15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11719902","33061943"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Enterokinase deficiency, MIM# 226200"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":89,"hash_id":null,"name":"Congenital Diarrhoea","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nCongenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. Severe chronic diarrhoea may be the main clinical manifestation or it may be a component of a more complex multi-organ or systemic disease.\r\n\r\nCDDs can be classified in four groups: (i) defects of digestion, absorption and transport of nutrients and electrolytes; (ii) defects of enterocyte differentiation and polarisation; (iii) defects of enteroendocrine cell differentiation; (iv) defects of modulation of intestinal immune response.","status":"public","version":"1.30","version_created":"2025-11-20T10:28:34.792243+11:00","relevant_disorders":["Diarrhea HP:0002014"],"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HsT17432"],"biotype":"protein_coding","hgnc_id":"HGNC:6772","gene_name":"SMAD family member 6","omim_gene":["602931"],"alias_name":null,"gene_symbol":"SMAD6","hgnc_symbol":"SMAD6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:66994566-67074338","ensembl_id":"ENSG00000137834"}},"GRch38":{"90":{"location":"15:66702228-66782848","ensembl_id":"ENSG00000137834"}}},"hgnc_date_symbol_changed":"2004-05-26"},"entity_type":"gene","entity_name":"SMAD6","confidence_level":"3","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":["32499606","27606499"],"evidence":["Expert Review Green","Literature"],"phenotypes":["{Craniosynostosis 7, susceptibility to}, MIM# 617439"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:14263","gene_name":"RAB23, member RAS oncogene family","omim_gene":["606144"],"alias_name":null,"gene_symbol":"RAB23","hgnc_symbol":"RAB23","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:57053607-57087078","ensembl_id":"ENSG00000112210"}},"GRch38":{"90":{"location":"6:57186992-57222314","ensembl_id":"ENSG00000112210"}}},"hgnc_date_symbol_changed":"2000-12-18"},"entity_type":"gene","entity_name":"RAB23","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["17503333"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Carpenter syndrome (MIM#201000)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:9024","gene_name":"plakophilin 2","omim_gene":["602861"],"alias_name":null,"gene_symbol":"PKP2","hgnc_symbol":"PKP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:32943679-33049774","ensembl_id":"ENSG00000057294"}},"GRch38":{"90":{"location":"12:32790745-32896840","ensembl_id":"ENSG00000057294"}}},"hgnc_date_symbol_changed":"1997-08-28"},"entity_type":"gene","entity_name":"PKP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["15489853","16567567","30562116","35059364","38050058"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Arrhythmogenic right ventricular dysplasia 9 (MIM#609040)","Dilated cardiomyopathy, MONDO:0005021, PKP2-related","hypoplastic left heart syndrome","hydrops fetalis","ventricular septal defect","left ventricular non-compaction"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":95,"hash_id":null,"name":"Dilated Cardiomyopathy","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes typically associated with isolated dilated cardiomyopathy, with onset in adolescence or adulthood. For early onset dilated 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 has been compared against the Genomics England 'Dilated Cardiomyopathy - teen and adult' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England 5/8/2020.\r\n\r\nThe panel is aligned with the assessments of DCM genes by ClinGen, Jordan E et al, 2021, PMID 33947203.","status":"public","version":"1.66","version_created":"2026-04-02T19:34:23.537467+11:00","relevant_disorders":["Dilated cardiomyopathy","HP:0001644"],"stats":{"number_of_genes":69,"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:2303","gene_name":"carboxypeptidase E","omim_gene":["114855"],"alias_name":["carboxypeptidase H","enkephalin convertase","insulin granule-associated carboxypeptidase","cobalt-stimulated chromaffin granule carboxypeptidase"],"gene_symbol":"CPE","hgnc_symbol":"CPE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:166282346-166419472","ensembl_id":"ENSG00000109472"}},"GRch38":{"90":{"location":"4:165361194-165498320","ensembl_id":"ENSG00000109472"}}},"hgnc_date_symbol_changed":"1992-04-09"},"entity_type":"gene","entity_name":"CPE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26120850","32936766","34383079"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326"],"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":"1.50","version_created":"2026-04-12T14:14:27.453739+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":142,"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":[]},{"gene_data":{"alias":["DD4","HAKRA","C11","3-alpha-HSD","CDR","MGC22581"],"biotype":"protein_coding","hgnc_id":"HGNC:387","gene_name":"aldo-keto reductase family 1 member C4","omim_gene":["600451"],"alias_name":["chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"],"gene_symbol":"AKR1C4","hgnc_symbol":"AKR1C4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:5237425-5260912","ensembl_id":"ENSG00000198610"}},"GRch38":{"90":{"location":"10:5195462-5218949","ensembl_id":"ENSG00000198610"}}},"hgnc_date_symbol_changed":"1993-08-26"},"entity_type":"gene","entity_name":"AKR1C4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21802064"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{46XY sex reversal 8, modifier of}, MIM# 614279"],"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":"1.50","version_created":"2026-04-12T14:14:27.453739+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":142,"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":["FLJ37118"],"biotype":"protein_coding","hgnc_id":"HGNC:26730","gene_name":"chromosome 1 open reading frame 127","omim_gene":null,"alias_name":null,"gene_symbol":"C1orf127","hgnc_symbol":"C1orf127","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:11006528-11042094","ensembl_id":"ENSG00000175262"}},"GRch38":{"90":{"location":"1:10946471-10982037","ensembl_id":"ENSG00000175262"}}},"hgnc_date_symbol_changed":"2005-06-23"},"entity_type":"gene","entity_name":"C1orf127","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39753129"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Heterotaxy, visceral, MONDO:0018677, CIROZ-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":108,"hash_id":null,"name":"Heterotaxy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Laterality disorders and isomerism' panel V1.19, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.45","version_created":"2026-03-17T16:09:39.911604+11:00","relevant_disorders":["Heterotaxy","HP:0030853; Dextrocardia","HP:0001651; Asplenia","HP:0001746; Abnormal spatial orientation of cardiac segments","HP:0011534; Polysplenia","HP:0001748;Midline liver","HP:0034188"],"stats":{"number_of_genes":67,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GUCY2A","ANPa"],"biotype":"protein_coding","hgnc_id":"HGNC:7943","gene_name":"natriuretic peptide receptor 1","omim_gene":["108960"],"alias_name":["guanylate cyclase A"],"gene_symbol":"NPR1","hgnc_symbol":"NPR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:153651113-153666468","ensembl_id":"ENSG00000169418"}},"GRch38":{"90":{"location":"1:153678637-153693992","ensembl_id":"ENSG00000169418"}}},"hgnc_date_symbol_changed":"1990-03-27"},"entity_type":"gene","entity_name":"NPR1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37080586"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Genetic hypertension MONDO:0015512"],"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. 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":[],"biotype":"protein_coding","hgnc_id":"HGNC:4422","gene_name":"glucosamine (N-acetyl)-6-sulfatase","omim_gene":["607664"],"alias_name":["Sanfilippo disease IIID","N-acetylglucosamine-6-sulfatase"],"gene_symbol":"GNS","hgnc_symbol":"GNS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:65107225-65153227","ensembl_id":"ENSG00000135677"}},"GRch38":{"90":{"location":"12:64713445-64759447","ensembl_id":"ENSG00000135677"}}},"hgnc_date_symbol_changed":"1988-06-09"},"entity_type":"gene","entity_name":"GNS","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":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":["FRA2","FLJ23306"],"biotype":"protein_coding","hgnc_id":"HGNC:3798","gene_name":"FOS like 2, AP-1 transcription factor subunit","omim_gene":["601575"],"alias_name":null,"gene_symbol":"FOSL2","hgnc_symbol":"FOSL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:28615315-28640179","ensembl_id":"ENSG00000075426"}},"GRch38":{"90":{"location":"2:28392448-28417312","ensembl_id":"ENSG00000075426"}}},"hgnc_date_symbol_changed":"1996-10-02"},"entity_type":"gene","entity_name":"FOSL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36197437"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Aplasia cutis-enamel dysplasia syndrome, MIM# 620789"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["RAP3","APOA-V"],"biotype":"protein_coding","hgnc_id":"HGNC:17288","gene_name":"apolipoprotein A5","omim_gene":["606368"],"alias_name":null,"gene_symbol":"APOA5","hgnc_symbol":"APOA5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:116660083-116663136","ensembl_id":"ENSG00000110243"}},"GRch38":{"90":{"location":"11:116789367-116792420","ensembl_id":"ENSG00000110243"}}},"hgnc_date_symbol_changed":"2001-12-11"},"entity_type":"gene","entity_name":"APOA5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["PMID: 19447388","16200213","11588264"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hyperchylomicronemia, late-onset MIM#144650","{Hypertriglyceridemia, susceptibility to} MIM#145750"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["B17","C2TA","DKFZP434M035"],"biotype":"protein_coding","hgnc_id":"HGNC:2993","gene_name":"downstream neighbor of SON","omim_gene":["611428"],"alias_name":null,"gene_symbol":"DONSON","hgnc_symbol":"DONSON","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:34931848-34961014","ensembl_id":"ENSG00000159147"}},"GRch38":{"90":{"location":"21:33559542-33588708","ensembl_id":"ENSG00000159147"}}},"hgnc_date_symbol_changed":"2000-02-18"},"entity_type":"gene","entity_name":"DONSON","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28191891","28630177","28191891"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Microcephaly, short stature, and limb abnormalities, MIM# 617604","Microcephaly-micromelia syndrome, MIM# 251230","MONDO:0009619","Meier-Gorlin syndrome 10, MIM# 621528"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["MRPL7/L12","MRPL7"],"biotype":"protein_coding","hgnc_id":"HGNC:10378","gene_name":"mitochondrial ribosomal protein L12","omim_gene":["602375"],"alias_name":null,"gene_symbol":"MRPL12","hgnc_symbol":"MRPL12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:79670387-79674556","ensembl_id":"ENSG00000262814"}},"GRch38":{"90":{"location":"17:81703357-81707526","ensembl_id":"ENSG00000262814"}}},"hgnc_date_symbol_changed":"1997-02-14"},"entity_type":"gene","entity_name":"MRPL12","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23603806"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Growth retardation","neurological deterioration","mitochondrial translation deficiency","Combined oxidative phosphorylation deficiency 45, MIM#618951"],"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. 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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. 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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":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["CGI-116"],"biotype":"protein_coding","hgnc_id":"HGNC:24256","gene_name":"WASH complex subunit 3","omim_gene":null,"alias_name":null,"gene_symbol":"WASHC3","hgnc_symbol":"WASHC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:102406705-102455927","ensembl_id":"ENSG00000120860"}},"GRch38":{"90":{"location":"12:102012927-102062149","ensembl_id":"ENSG00000120860"}}},"hgnc_date_symbol_changed":"2016-10-14"},"entity_type":"gene","entity_name":"WASHC3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40129681"],"evidence":["Expert Review Red","Literature"],"phenotypes":["neurodevelopmental disorder MONDO:0700092, WASHC3 related"],"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. 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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":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["FLJ13203","CPEB"],"biotype":"protein_coding","hgnc_id":"HGNC:21744","gene_name":"cytoplasmic polyadenylation element binding protein 1","omim_gene":["607342"],"alias_name":null,"gene_symbol":"CPEB1","hgnc_symbol":"CPEB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:83211951-83317612","ensembl_id":"ENSG00000214575"}},"GRch38":{"90":{"location":"15:82543201-82648861","ensembl_id":"ENSG00000214575"}}},"hgnc_date_symbol_changed":"2003-07-22"},"entity_type":"gene","entity_name":"CPEB1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["34794894","33095795","32354341","30689869","11702780"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Primary ovarian insufficiency, MONDO:0005387, CPEB1-related"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["FLJ20731","FKBP22"],"biotype":"protein_coding","hgnc_id":"HGNC:18625","gene_name":"FK506 binding protein 14","omim_gene":["614505"],"alias_name":null,"gene_symbol":"FKBP14","hgnc_symbol":"FKBP14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:30050203-30066300","ensembl_id":"ENSG00000106080"}},"GRch38":{"90":{"location":"7:30010587-30026684","ensembl_id":"ENSG00000106080"}}},"hgnc_date_symbol_changed":"2002-06-05"},"entity_type":"gene","entity_name":"FKBP14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31132235"],"evidence":["Expert Review Green","Literature","Expert Review Green"],"phenotypes":["Ehlers-Danlos syndrome, kyphoscoliotic and deafness type MONDO:0013800"],"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":["OCIF","TR1"],"biotype":"protein_coding","hgnc_id":"HGNC:11909","gene_name":"TNF receptor superfamily member 11b","omim_gene":["602643"],"alias_name":null,"gene_symbol":"TNFRSF11B","hgnc_symbol":"TNFRSF11B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:119935796-119964439","ensembl_id":"ENSG00000164761"}},"GRch38":{"90":{"location":"8:118923557-118952200","ensembl_id":"ENSG00000164761"}}},"hgnc_date_symbol_changed":"1997-09-05"},"entity_type":"gene","entity_name":"TNFRSF11B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24743232","40735895","29578045","33559312","33989379","35412619","14672344"],"evidence":["Expert Review Green","Literature"],"phenotypes":["juvenile Paget disease MONDO:0009394","chondrocalcinosis 1 MONDO:0010917"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":147,"hash_id":null,"name":"Osteogenesis Imperfecta and Osteoporosis","disease_group":"Skeletal disorders; Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with osteogenesis imperfecta and osteoporosis. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Osteogenesis imperfecta' panel V5.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.18","version_created":"2026-02-22T14:59:29.563350+11:00","relevant_disorders":["Increased susceptibility to fractures","HP:0002659"],"stats":{"number_of_genes":48,"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":[]},{"gene_data":{"alias":["LOH1CR12"],"biotype":"protein_coding","hgnc_id":"HGNC:17950","gene_name":"BLOC-1 related complex subunit 5","omim_gene":["616598"],"alias_name":["myrlysin"],"gene_symbol":"BORCS5","hgnc_symbol":"BORCS5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:12510013-12619840","ensembl_id":"ENSG00000165714"}},"GRch38":{"90":{"location":"12:12357079-12469694","ensembl_id":"ENSG00000165714"}}},"hgnc_date_symbol_changed":"2015-08-07"},"entity_type":"gene","entity_name":"BORCS5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40385417"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Lysosomal storage disease, MONDO:0002561, BORCS5-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":149,"hash_id":null,"name":"Optic Atrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH and contains genes associated with isolated and complex optic atrophy.","status":"public","version":"1.72","version_created":"2026-03-31T18:57:17.873049+11:00","relevant_disorders":["Optic atrophy","HP:0000648"],"stats":{"number_of_genes":80,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["bK3184A7.3","NHL","DKFZP434C013","KIAA1088","RTEL"],"biotype":"protein_coding","hgnc_id":"HGNC:15888","gene_name":"regulator of telomere elongation helicase 1","omim_gene":["608833"],"alias_name":null,"gene_symbol":"RTEL1","hgnc_symbol":"RTEL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:62289163-62328416","ensembl_id":"ENSG00000258366"}},"GRch38":{"90":{"location":"20:63657810-63696253","ensembl_id":"ENSG00000258366"}}},"hgnc_date_symbol_changed":"2004-10-29"},"entity_type":"gene","entity_name":"RTEL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25848748","25607374","23959892"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":162,"hash_id":null,"name":"Pulmonary Fibrosis_Interstitial Lung Disease","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.","status":"public","version":"1.10","version_created":"2026-03-17T11:39:32.713501+11:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":97,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CGI-PDE"],"biotype":"protein_coding","hgnc_id":"HGNC:8778","gene_name":"phosphodiesterase 3A","omim_gene":["123805"],"alias_name":null,"gene_symbol":"PDE3A","hgnc_symbol":"PDE3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:20522179-20837315","ensembl_id":"ENSG00000172572"}},"GRch38":{"90":{"location":"12:20369245-20684381","ensembl_id":"ENSG00000172572"}}},"hgnc_date_symbol_changed":"1994-07-29"},"entity_type":"gene","entity_name":"PDE3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25961942"],"evidence":["Expert Review Green","KidGen_AldoHypertension v38.1.0"],"phenotypes":["Hypertension and brachydactyly syndrome, MIM# 112410"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":190,"hash_id":null,"name":"Hypertension and Aldosterone disorders","disease_group":"Renal and urinary tract disorders; Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with hypertension and aldosterone disorders. \r\n\r\nThis panel was created and is maintained by the KidGen Collaborative. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Extreme early-onset hypertension' panel V1.23, with all discrepancies reviewed and resolved (January 2026).","status":"public","version":"1.18","version_created":"2026-01-08T17:00:09.030229+11:00","relevant_disorders":["Hypertension","HP:0000822; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":24,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3153","gene_name":"extracellular matrix protein 1","omim_gene":["602201"],"alias_name":null,"gene_symbol":"ECM1","hgnc_symbol":"ECM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:150480538-150486265","ensembl_id":"ENSG00000143369"}},"GRch38":{"90":{"location":"1:150508062-150513789","ensembl_id":"ENSG00000143369"}}},"hgnc_date_symbol_changed":"1996-09-19"},"entity_type":"gene","entity_name":"ECM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 11929856","28434238"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Urbach-Wiethe disease, MIM# 247100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:25203","gene_name":"transmembrane protein 65","omim_gene":["616609"],"alias_name":null,"gene_symbol":"TMEM65","hgnc_symbol":"TMEM65","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:125324231-125384933","ensembl_id":"ENSG00000164983"}},"GRch38":{"90":{"location":"8:124306189-124372692","ensembl_id":"ENSG00000164983"}}},"hgnc_date_symbol_changed":"2005-07-29"},"entity_type":"gene","entity_name":"TMEM65","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["28295037"],"evidence":["Expert Review Amber","Expert Review Amber","NHS GMS","NHS GMS"],"phenotypes":["Mitochondrial disease, MONDO:0044970, TMEM65-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["trnI"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7488","gene_name":"mitochondrially encoded tRNA isoleucine","omim_gene":["590045"],"alias_name":null,"gene_symbol":"MT-TI","hgnc_symbol":"MT-TI","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:4263-4331","ensembl_id":"ENSG00000210100"}},"GRch38":{"90":{"location":"MT:4263-4331","ensembl_id":"ENSG00000210100"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TI","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["15121771","21982779","23395828","16120360","9473477","12767666","10065021","7646516","20884012","21292040","1632786","23696415","34607911"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TI-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DPCK","NBP","CoASY","PPAT"],"biotype":"protein_coding","hgnc_id":"HGNC:29932","gene_name":"Coenzyme A synthase","omim_gene":["609855"],"alias_name":null,"gene_symbol":"COASY","hgnc_symbol":"COASY","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40713485-40718295","ensembl_id":"ENSG00000068120"}},"GRch38":{"90":{"location":"17:42561467-42566277","ensembl_id":"ENSG00000068120"}}},"hgnc_date_symbol_changed":"2004-03-22"},"entity_type":"gene","entity_name":"COASY","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","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":["DQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:3098","gene_name":"torsin family 1 member A","omim_gene":["605204"],"alias_name":["torsin A"],"gene_symbol":"TOR1A","hgnc_symbol":"TOR1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:132575223-132586413","ensembl_id":"ENSG00000136827"}},"GRch38":{"90":{"location":"9:129812944-129824134","ensembl_id":"ENSG00000136827"}}},"hgnc_date_symbol_changed":"2004-11-26"},"entity_type":"gene","entity_name":"TOR1A","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":["DFNB99"],"biotype":"protein_coding","hgnc_id":"HGNC:26991","gene_name":"transmembrane protein 132E","omim_gene":["616178"],"alias_name":null,"gene_symbol":"TMEM132E","hgnc_symbol":"TMEM132E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:32907768-32966337","ensembl_id":"ENSG00000181291"}},"GRch38":{"90":{"location":"17:34579487-34639318","ensembl_id":"ENSG00000181291"}}},"hgnc_date_symbol_changed":"2006-03-02"},"entity_type":"gene","entity_name":"TMEM132E","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["25331638"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Deafness, autosomal recessive 99, MIM#\t618481"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CDK4I","p16","INK4a","MTS1","CMM2","ARF","p19","p14","INK4","p16INK4a","p19Arf","p14ARF"],"biotype":"protein_coding","hgnc_id":"HGNC:1787","gene_name":"cyclin dependent kinase inhibitor 2A","omim_gene":["600160"],"alias_name":null,"gene_symbol":"CDKN2A","hgnc_symbol":"CDKN2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:21967751-21995300","ensembl_id":"ENSG00000147889"}},"GRch38":{"90":{"location":"9:21967753-21995301","ensembl_id":"ENSG00000147889"}}},"hgnc_date_symbol_changed":"1994-05-19"},"entity_type":"gene","entity_name":"CDKN2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["{Melanoma-pancreatic cancer syndrome} MIM#606719"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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. 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Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["retGC","RETGC-1","ROS-GC1","CYGD","LCA1"],"biotype":"protein_coding","hgnc_id":"HGNC:4689","gene_name":"guanylate cyclase 2D, retinal","omim_gene":["600179"],"alias_name":["rod outer segment membrane guanylate cyclase","retinal guanylate cyclase 1"],"gene_symbol":"GUCY2D","hgnc_symbol":"GUCY2D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7905912-7923657","ensembl_id":"ENSG00000132518"}},"GRch38":{"90":{"location":"17:8002594-8020339","ensembl_id":"ENSG00000132518"}}},"hgnc_date_symbol_changed":"1993-11-09"},"entity_type":"gene","entity_name":"GUCY2D","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Emory Genetics Laboratory","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MDA-5","Hlcd","MDA5","IDDM19"],"biotype":"protein_coding","hgnc_id":"HGNC:18873","gene_name":"interferon induced with helicase C domain 1","omim_gene":["606951"],"alias_name":["helicard","melanoma differentiation-associated gene 5"],"gene_symbol":"IFIH1","hgnc_symbol":"IFIH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:163123589-163175213","ensembl_id":"ENSG00000115267"}},"GRch38":{"90":{"location":"2:162267079-162318703","ensembl_id":"ENSG00000115267"}}},"hgnc_date_symbol_changed":"2004-06-25"},"entity_type":"gene","entity_name":"IFIH1","confidence_level":"3","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":["28319323","25620204"],"evidence":["Expert Review Green","Expert Review Green","NHS GMS","Expert Review","Victorian Clinical Genetics Services"],"phenotypes":["Singleton-Merten syndrome 1, 182250"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AMN","ALDP","adrenoleukodystrophy"],"biotype":"protein_coding","hgnc_id":"HGNC:61","gene_name":"ATP binding cassette subfamily D member 1","omim_gene":["300371"],"alias_name":null,"gene_symbol":"ABCD1","hgnc_symbol":"ABCD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:152990323-153010216","ensembl_id":"ENSG00000101986"}},"GRch38":{"90":{"location":"X:153724868-153744762","ensembl_id":"ENSG00000101986"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ABCD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital","Expert list","Expert list"],"phenotypes":["Adrenoleukodystrophy MIM# 300100, XLR"],"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":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CLK-1","CAT5"],"biotype":"protein_coding","hgnc_id":"HGNC:2244","gene_name":"coenzyme Q7, hydroxylase","omim_gene":["601683"],"alias_name":["5-demethoxyubiquinone hydroxylase"],"gene_symbol":"COQ7","hgnc_symbol":"COQ7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:19078921-19091417","ensembl_id":"ENSG00000167186"}},"GRch38":{"90":{"location":"16:19067599-19080095","ensembl_id":"ENSG00000167186"}}},"hgnc_date_symbol_changed":"1998-09-29"},"entity_type":"gene","entity_name":"COQ7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 33215859"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Hereditary spastic paraplegia, COQ7-related (MONDO#0019064)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["p53R2"],"biotype":"protein_coding","hgnc_id":"HGNC:17296","gene_name":"ribonucleotide reductase regulatory TP53 inducible subunit M2B","omim_gene":["604712"],"alias_name":null,"gene_symbol":"RRM2B","hgnc_symbol":"RRM2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:103216730-103251346","ensembl_id":"ENSG00000048392"}},"GRch38":{"90":{"location":"8:102204502-102239118","ensembl_id":"ENSG00000048392"}}},"hgnc_date_symbol_changed":"2002-01-14"},"entity_type":"gene","entity_name":"RRM2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32827185","24741716"],"evidence":["Expert Review Green","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075","Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075","Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077"],"mode_of_inheritance":"BOTH monoallelic and 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":null},{"gene_data":{"alias":["KIAA1052","NPHP15"],"biotype":"protein_coding","hgnc_id":"HGNC:29182","gene_name":"centrosomal protein 164","omim_gene":["614848"],"alias_name":null,"gene_symbol":"CEP164","hgnc_symbol":"CEP164","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:117185273-117283984","ensembl_id":"ENSG00000110274"}},"GRch38":{"90":{"location":"11:117314557-117413268","ensembl_id":"ENSG00000110274"}}},"hgnc_date_symbol_changed":"2005-12-01"},"entity_type":"gene","entity_name":"CEP164","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","RetNet","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.256","version_created":"2026-03-31T19:05:29.271183+11:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":138,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PG-M"],"biotype":"protein_coding","hgnc_id":"HGNC:2464","gene_name":"versican","omim_gene":["118661"],"alias_name":["versican proteoglycan"],"gene_symbol":"VCAN","hgnc_symbol":"VCAN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:82767284-82878122","ensembl_id":"ENSG00000038427"}},"GRch38":{"90":{"location":"5:83471465-83582303","ensembl_id":"ENSG00000038427"}}},"hgnc_date_symbol_changed":"2007-02-15"},"entity_type":"gene","entity_name":"VCAN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16877430","22739342","16636652","16043844","32854301","30657523","30055036","29071374","27667122"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Wagner syndrome 1, MIM# 143200"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT 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Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NET-2"],"biotype":"protein_coding","hgnc_id":"HGNC:21641","gene_name":"tetraspanin 12","omim_gene":["613138"],"alias_name":null,"gene_symbol":"TSPAN12","hgnc_symbol":"TSPAN12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:120427376-120498456","ensembl_id":"ENSG00000106025"}},"GRch38":{"90":{"location":"7:120787320-120858402","ensembl_id":"ENSG00000106025"}}},"hgnc_date_symbol_changed":"2005-03-21"},"entity_type":"gene","entity_name":"TSPAN12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20159111","20159112","21334594"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Exudative vitreoretinopathy 5, MIM# 613310"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3113,"hash_id":null,"name":"Vitreoretinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This is a consensus panel between VCGS and RMH.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.","status":"public","version":"1.9","version_created":"2025-09-25T12:27:18.666129+10:00","relevant_disorders":["Abnormal posterior eye segment morphology","HP:0004329"],"stats":{"number_of_genes":20,"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":["BBS17"],"biotype":"protein_coding","hgnc_id":"HGNC:6741","gene_name":"leucine zipper transcription factor like 1","omim_gene":["606568"],"alias_name":null,"gene_symbol":"LZTFL1","hgnc_symbol":"LZTFL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:45864808-45957534","ensembl_id":"ENSG00000163818"}},"GRch38":{"90":{"location":"3:45823316-45916042","ensembl_id":"ENSG00000163818"}}},"hgnc_date_symbol_changed":"2000-06-16"},"entity_type":"gene","entity_name":"LZTFL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Bardet-Biedl syndrome 17, 615994 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive 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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":["MGC33662"],"biotype":"protein_coding","hgnc_id":"HGNC:28510","gene_name":"GLIS family zinc finger 3","omim_gene":["610192"],"alias_name":null,"gene_symbol":"GLIS3","hgnc_symbol":"GLIS3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:3824127-4348392","ensembl_id":"ENSG00000107249"}},"GRch38":{"90":{"location":"9:3824127-4348392","ensembl_id":"ENSG00000107249"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"GLIS3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (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:11494","gene_name":"synapsin I","omim_gene":["313440"],"alias_name":null,"gene_symbol":"SYN1","hgnc_symbol":"SYN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:47431303-47479252","ensembl_id":"ENSG00000008056"}},"GRch38":{"90":{"location":"X:47571898-47619943","ensembl_id":"ENSG00000008056"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"SYN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ACTSA"],"biotype":"protein_coding","hgnc_id":"HGNC:130","gene_name":"actin, alpha 2, smooth muscle, aorta","omim_gene":["102620"],"alias_name":null,"gene_symbol":"ACTA2","hgnc_symbol":"ACTA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:90694831-90751147","ensembl_id":"ENSG00000107796"}},"GRch38":{"90":{"location":"10:88935074-88991339","ensembl_id":"ENSG00000107796"}}},"hgnc_date_symbol_changed":"1989-12-07"},"entity_type":"gene","entity_name":"ACTA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Genomics England PanelApp","Expert Review Green"],"phenotypes":["Multisystemic smooth muscle dysfunction syndrome,613834","Aortic aneurysm familial thoracic 6,611788","Moyamoya Disease","Moyamoya disease 5","Moyamoya disease 5,614042"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3144,"hash_id":null,"name":"Cerebral vascular malformations","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes associated with cerebral vascular malformations, including:\r\nVein of Galen malformation\r\nCerebral vascular malformations\r\nMoyamoya disease\r\n\r\nConsider applying the Stroke and Aortopathy_Connective Tissue Disorders panels due to overlap in clinical features.\r\nWith thanks to the Genomics England PanelApp team for the original design.","status":"public","version":"1.12","version_created":"2026-01-22T10:52:30.127872+11:00","relevant_disorders":["Abnormal cerebral vascular morphology HP:0100659"],"stats":{"number_of_genes":54,"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."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SMAD8","SMAD8/9"],"biotype":"protein_coding","hgnc_id":"HGNC:6774","gene_name":"SMAD family member 9","omim_gene":["603295"],"alias_name":null,"gene_symbol":"SMAD9","hgnc_symbol":"SMAD9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:37418968-37494902","ensembl_id":"ENSG00000120693"}},"GRch38":{"90":{"location":"13:36844831-36920765","ensembl_id":"ENSG00000120693"}}},"hgnc_date_symbol_changed":"2004-05-26"},"entity_type":"gene","entity_name":"SMAD9","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3144,"hash_id":null,"name":"Cerebral vascular malformations","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes associated with cerebral vascular malformations, including:\r\nVein of Galen malformation\r\nCerebral vascular malformations\r\nMoyamoya disease\r\n\r\nConsider applying the Stroke and Aortopathy_Connective Tissue Disorders panels due to overlap in clinical features.\r\nWith thanks to the Genomics England PanelApp team for the original design.","status":"public","version":"1.12","version_created":"2026-01-22T10:52:30.127872+11:00","relevant_disorders":["Abnormal cerebral vascular morphology HP:0100659"],"stats":{"number_of_genes":54,"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."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KRT6IRS","KRT6IRS1","K6IRS1"],"biotype":"protein_coding","hgnc_id":"HGNC:28927","gene_name":"keratin 71","omim_gene":["608245"],"alias_name":null,"gene_symbol":"KRT71","hgnc_symbol":"KRT71","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52937693-52946931","ensembl_id":"ENSG00000139648"}},"GRch38":{"90":{"location":"12:52543909-52553147","ensembl_id":"ENSG00000139648"}}},"hgnc_date_symbol_changed":"2006-07-17"},"entity_type":"gene","entity_name":"KRT71","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["31332722","14632181","22592156","19713490"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["?Hypotrichosis 13, 615896"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3269,"hash_id":null,"name":"Hair disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause syndromic and non-syndromic disorders that have hair abnormalities as a prominent feature of the condition. \r\n\r\nThe conditions include: hypotrichosis, hair shaft disorders with/without hair fragility, ectodermal dysplasias, trichorhinophalangeal syndrome, and atrichia with papular lesions.\r\nFor hypertrichosis the Hypertrichosis syndromes gene panel is more suitable.\r\n\r\nThe panel was developed and is maintained by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.84","version_created":"2026-03-30T12:08:41.487037+11:00","relevant_disorders":["Abnormal hair morphology","HP:0001595"],"stats":{"number_of_genes":60,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:987","gene_name":"branched chain keto acid dehydrogenase E1 subunit beta","omim_gene":["248611"],"alias_name":["maple syrup urine disease","2-oxoisovalerate dehydrogenase subunit beta, mitochondrial"],"gene_symbol":"BCKDHB","hgnc_symbol":"BCKDHB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:80816364-81055987","ensembl_id":"ENSG00000083123"}},"GRch38":{"90":{"location":"6:80106647-80346270","ensembl_id":"ENSG00000083123"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"BCKDHB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Maple syrup urine disease"],"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":["TEL1","TELO1"],"biotype":"protein_coding","hgnc_id":"HGNC:795","gene_name":"ATM serine/threonine kinase","omim_gene":["607585"],"alias_name":["TEL1, telomere maintenance 1, homolog (S. cerevisiae)"],"gene_symbol":"ATM","hgnc_symbol":"ATM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:108093211-108239829","ensembl_id":"ENSG00000149311"}},"GRch38":{"90":{"location":"11:108222484-108369102","ensembl_id":"ENSG00000149311"}}},"hgnc_date_symbol_changed":"1995-07-07"},"entity_type":"gene","entity_name":"ATM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Ataxia-telangiectasia"],"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":["HANK","ANK","CPPDD"],"biotype":"protein_coding","hgnc_id":"HGNC:15492","gene_name":"ANKH inorganic pyrophosphate transport regulator","omim_gene":["605145"],"alias_name":null,"gene_symbol":"ANKH","hgnc_symbol":"ANKH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:14704910-14871887","ensembl_id":"ENSG00000154122"}},"GRch38":{"90":{"location":"5:14704804-14871778","ensembl_id":"ENSG00000154122"}}},"hgnc_date_symbol_changed":"2001-04-05"},"entity_type":"gene","entity_name":"ANKH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Craniometaphyseal dysplasia"],"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":["CDS1","CHK2","HuCds1","PP1425","bA444G7"],"biotype":"protein_coding","hgnc_id":"HGNC:16627","gene_name":"checkpoint kinase 2","omim_gene":["604373"],"alias_name":null,"gene_symbol":"CHEK2","hgnc_symbol":"CHEK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:29083731-29138410","ensembl_id":"ENSG00000183765"}},"GRch38":{"90":{"location":"22:28687743-28742422","ensembl_id":"ENSG00000183765"}}},"hgnc_date_symbol_changed":"2001-09-27"},"entity_type":"gene","entity_name":"CHEK2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Breast cancer, susceptibility to"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6910","gene_name":"matrilin 4","omim_gene":["603897"],"alias_name":null,"gene_symbol":"MATN4","hgnc_symbol":"MATN4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:43922085-43937169","ensembl_id":"ENSG00000124159"}},"GRch38":{"90":{"location":"20:45293445-45308529","ensembl_id":"ENSG00000124159"}}},"hgnc_date_symbol_changed":"1998-12-15"},"entity_type":"gene","entity_name":"MATN4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Multiple anomalies"],"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":["MgcRacGAP"],"biotype":"protein_coding","hgnc_id":"HGNC:9804","gene_name":"Rac GTPase activating protein 1","omim_gene":["604980"],"alias_name":null,"gene_symbol":"RACGAP1","hgnc_symbol":"RACGAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:50370706-50426919","ensembl_id":"ENSG00000161800"}},"GRch38":{"90":{"location":"12:49976923-50033136","ensembl_id":"ENSG00000161800"}}},"hgnc_date_symbol_changed":"1999-09-09"},"entity_type":"gene","entity_name":"RACGAP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["34818416"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Anaemia, congenital dyserythropoietic, type IIIb, autosomal recessive\t619789"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3366,"hash_id":null,"name":"Red cell disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.","status":"public","version":"1.52","version_created":"2026-03-28T15:18:36.006857+11:00","relevant_disorders":["Abnormal erythrocyte morphology","HP:0001877"],"stats":{"number_of_genes":116,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FTH","PLIF","PIG15","FHC"],"biotype":"protein_coding","hgnc_id":"HGNC:3976","gene_name":"ferritin heavy chain 1","omim_gene":["134770"],"alias_name":["apoferritin","placenta immunoregulatory factor","proliferation-inducing protein 15"],"gene_symbol":"FTH1","hgnc_symbol":"FTH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:61727190-61735132","ensembl_id":"ENSG00000167996"}},"GRch38":{"90":{"location":"11:61959718-61967660","ensembl_id":"ENSG00000167996"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"FTH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["37660254"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodegeneration with brain iron accumulation 9, MIM# 620669"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3438,"hash_id":null,"name":"Neurodegeneration with brain iron accumulation","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that are associated with neurodegeneration with brain iron accumulation (NBIA) disorders. Depending on the clinical features present, consider applying additional panels such as the Dystonia Superpanel or Mitochondrial Disorders, which contain overlapping differential diagnoses.","status":"public","version":"1.3","version_created":"2025-11-25T11:21:32.539811+11:00","relevant_disorders":["Iron accumulation in brain","HP:0012675"],"stats":{"number_of_genes":24,"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":["ASP","ACY2"],"biotype":"protein_coding","hgnc_id":"HGNC:756","gene_name":"aspartoacylase","omim_gene":["608034"],"alias_name":["aminoacylase 2","Canavan disease"],"gene_symbol":"ASPA","hgnc_symbol":"ASPA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:3375668-3406713","ensembl_id":"ENSG00000108381"}},"GRch38":{"90":{"location":"17:3472374-3503419","ensembl_id":"ENSG00000108381"}}},"hgnc_date_symbol_changed":"1993-12-09"},"entity_type":"gene","entity_name":"ASPA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["8252036","8023850"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Canavan disease MIM#271900","disorder of amino acid metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RPX","ANF"],"biotype":"protein_coding","hgnc_id":"HGNC:4877","gene_name":"HESX homeobox 1","omim_gene":["601802"],"alias_name":null,"gene_symbol":"HESX1","hgnc_symbol":"HESX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:57231944-57260549","ensembl_id":"ENSG00000163666"}},"GRch38":{"90":{"location":"3:57197843-57226521","ensembl_id":"ENSG00000163666"}}},"hgnc_date_symbol_changed":"1998-11-19"},"entity_type":"gene","entity_name":"HESX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9620767","26416826 (2015 review)","11136712"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Pituitary hormone deficiency, combined, 5, MIM# 182230"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:8522","gene_name":"orthodenticle homeobox 2","omim_gene":["600037"],"alias_name":null,"gene_symbol":"OTX2","hgnc_symbol":"OTX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:57267425-57277197","ensembl_id":"ENSG00000165588"}},"GRch38":{"90":{"location":"14:56799905-56810479","ensembl_id":"ENSG00000165588"}}},"hgnc_date_symbol_changed":"1994-02-08"},"entity_type":"gene","entity_name":"OTX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18728160","33950863","15846561"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Pituitary hormone deficiency, combined, 6, MIM# 613986","Microphthalmia, syndromic 5, MIM# 610125"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7506","gene_name":"metaxin 2","omim_gene":["608555"],"alias_name":null,"gene_symbol":"MTX2","hgnc_symbol":"MTX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:177134123-177202753","ensembl_id":"ENSG00000128654"}},"GRch38":{"90":{"location":"2:176269395-176338025","ensembl_id":"ENSG00000128654"}}},"hgnc_date_symbol_changed":"1999-07-14"},"entity_type":"gene","entity_name":"MTX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32917887"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Mandibuloacral dysplasia","growth retardation","arterial calcification","lipodystrophy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AF5Q31","MCEF"],"biotype":"protein_coding","hgnc_id":"HGNC:17869","gene_name":"AF4/FMR2 family member 4","omim_gene":["604417"],"alias_name":["ALL1 fused gene from 5q31"],"gene_symbol":"AFF4","hgnc_symbol":"AFF4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:132211071-132299326","ensembl_id":"ENSG00000072364"}},"GRch38":{"90":{"location":"5:132875379-132963634","ensembl_id":"ENSG00000072364"}}},"hgnc_date_symbol_changed":"2005-06-27"},"entity_type":"gene","entity_name":"AFF4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green","Expert Review Green","Other","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["CHOPS syndrome MIM#616368"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3729,"hash_id":null,"name":"Hand and foot malformations","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.","status":"public","version":"0.89","version_created":"2026-04-07T13:49:34.993963+10:00","relevant_disorders":["Abnormal hand morphology","HP:0005922; Abnormal foot morphology","HP:0001760"],"stats":{"number_of_genes":101,"number_of_strs":1,"number_of_regions":5},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GA2","EMA","MADD"],"biotype":"protein_coding","hgnc_id":"HGNC:3481","gene_name":"electron transfer flavoprotein alpha subunit","omim_gene":["608053"],"alias_name":["glutaric aciduria II"],"gene_symbol":"ETFA","hgnc_symbol":"ETFA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:76507696-76603813","ensembl_id":"ENSG00000140374"}},"GRch38":{"90":{"location":"15:76215355-76311472","ensembl_id":"ENSG00000140374"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ETFA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Glutaric acidemia IIA, MIM#231680"],"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":["FLJ10998","hDrn1"],"biotype":"protein_coding","hgnc_id":"HGNC:25613","gene_name":"CWF19 like 1, cell cycle control (S. pombe)","omim_gene":["616120"],"alias_name":null,"gene_symbol":"CWF19L1","hgnc_symbol":"CWF19L1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:101992055-102027437","ensembl_id":"ENSG00000095485"}},"GRch38":{"90":{"location":"10:100232298-100267680","ensembl_id":"ENSG00000095485"}}},"hgnc_date_symbol_changed":"2004-03-08"},"entity_type":"gene","entity_name":"CWF19L1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27016154"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 17 - MIM#616127"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:652","gene_name":"ADP ribosylation factor 1","omim_gene":["103180"],"alias_name":null,"gene_symbol":"ARF1","hgnc_symbol":"ARF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:228270361-228286912","ensembl_id":"ENSG00000143761"}},"GRch38":{"90":{"location":"1:228082660-228099212","ensembl_id":"ENSG00000143761"}}},"hgnc_date_symbol_changed":"1992-07-09"},"entity_type":"gene","entity_name":"ARF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28868155","34353862"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Periventricular nodular heterotopia 8 (MIM#618185)"],"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":["FLJ10925"],"biotype":"protein_coding","hgnc_id":"HGNC:25604","gene_name":"chromosome 7 open reading frame 43","omim_gene":null,"alias_name":null,"gene_symbol":"C7orf43","hgnc_symbol":"C7orf43","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:99752043-99756338","ensembl_id":"ENSG00000146826"}},"GRch38":{"90":{"location":"7:100154420-100158715","ensembl_id":"ENSG00000146826"}}},"hgnc_date_symbol_changed":"2006-08-08"},"entity_type":"gene","entity_name":"C7orf43","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["30715179"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Microcephaly 25, primary, autosomal recessive, MIM# 618351"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"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. 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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":"2.16","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":["FLJ33207"],"biotype":"protein_coding","hgnc_id":"HGNC:26576","gene_name":"kyphoscoliosis peptidase","omim_gene":["605739"],"alias_name":null,"gene_symbol":"KY","hgnc_symbol":"KY","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:134321980-134370478","ensembl_id":"ENSG00000174611"}},"GRch38":{"90":{"location":"3:134603138-134651636","ensembl_id":"ENSG00000174611"}}},"hgnc_date_symbol_changed":"2004-06-25"},"entity_type":"gene","entity_name":"KY","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27484770","27485408","30591934"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Myopathy, myofibrillar, 7 (MIM#617114)"],"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":["KIAA0209"],"biotype":"protein_coding","hgnc_id":"HGNC:2988","gene_name":"dedicator of cytokinesis 2","omim_gene":["603122"],"alias_name":null,"gene_symbol":"DOCK2","hgnc_symbol":"DOCK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:169064251-169510386","ensembl_id":"ENSG00000134516"}},"GRch38":{"90":{"location":"5:169637247-170083382","ensembl_id":"ENSG00000134516"}}},"hgnc_date_symbol_changed":"1998-05-13"},"entity_type":"gene","entity_name":"DOCK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26083206","29204803","33928462","30826364","30838481","11518968"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Immunodeficiency 40 MIM# 616433"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CPT1-L","L-CPT1"],"biotype":"protein_coding","hgnc_id":"HGNC:2328","gene_name":"carnitine palmitoyltransferase 1A","omim_gene":["600528"],"alias_name":null,"gene_symbol":"CPT1A","hgnc_symbol":"CPT1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:68522088-68611878","ensembl_id":"ENSG00000110090"}},"GRch38":{"90":{"location":"11:68754620-68844410","ensembl_id":"ENSG00000110090"}}},"hgnc_date_symbol_changed":"1995-05-30"},"entity_type":"gene","entity_name":"CPT1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32885845"],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Carnitine palmitoyltransferase I deficiency, MIM#255120"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"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":["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":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Cockayne syndrome, type A, MIM# 216400","MONDO:0019569"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3606","gene_name":"fructose-bisphosphatase 1","omim_gene":["611570"],"alias_name":null,"gene_symbol":"FBP1","hgnc_symbol":"FBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:97365415-97402531","ensembl_id":"ENSG00000165140"}},"GRch38":{"90":{"location":"9:94603133-94640249","ensembl_id":"ENSG00000165140"}}},"hgnc_date_symbol_changed":"1993-08-19"},"entity_type":"gene","entity_name":"FBP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS","Expert list"],"phenotypes":["Fructose-1,6-bisphosphatase deficiency MIM# 229700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"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":["FLJ30273","SDR7C2","LCA13","RP53"],"biotype":"protein_coding","hgnc_id":"HGNC:19977","gene_name":"retinol dehydrogenase 12 (all-trans/9-cis/11-cis)","omim_gene":["608830"],"alias_name":["short chain dehydrogenase/reductase family 7C, member 2"],"gene_symbol":"RDH12","hgnc_symbol":"RDH12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:68168603-68201169","ensembl_id":"ENSG00000139988"}},"GRch38":{"90":{"location":"14:67701886-67734452","ensembl_id":"ENSG00000139988"}}},"hgnc_date_symbol_changed":"2002-12-11"},"entity_type":"gene","entity_name":"RDH12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15322982","16269441"],"evidence":["Expert Review Green"],"phenotypes":["Leber congenital amaurosis 13 MONDO:0012990","Other disorders of vitamin metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4257,"hash_id":null,"name":"Vitamin metabolism disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"The gene panel contains genes that cause inborn errors of vitamin metabolism.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.7","version_created":"2024-09-18T09:35:00.495806+10:00","relevant_disorders":["Abnormality of vitamin metabolism","HP:0100508"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P450c21B","CA21H","CPS1","CAH1"],"biotype":"protein_coding","hgnc_id":"HGNC:2600","gene_name":"cytochrome P450 family 21 subfamily A member 2","omim_gene":["613815"],"alias_name":["Steroid 21-monooxygenase"],"gene_symbol":"CYP21A2","hgnc_symbol":"CYP21A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:32006042-32009447","ensembl_id":"ENSG00000231852"}},"GRch38":{"90":{"location":"6:32038265-32041670","ensembl_id":"ENSG00000231852"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CYP21A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910","Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4522,"hash_id":null,"name":"Congenital adrenal hyperplasia","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","description":"This panel contains genes associated with congenital adrenal hyperplasia.\r\n\r\nFor a high suspicion of 21-hydroxylase deficiency CAH: \r\nrequest a specific assay of CYP21A2 gene which includes analysis of deletions, duplications, and gene conversions.","status":"public","version":"0.8","version_created":"2026-01-29T13:38:25.687384+11:00","relevant_disorders":[],"stats":{"number_of_genes":6,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]}]}