{"count":36022,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=5","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=3","results":[{"gene_data":{"alias":["TUBGCP1"],"biotype":"protein_coding","hgnc_id":"HGNC:12417","gene_name":"tubulin gamma 1","omim_gene":["191135"],"alias_name":null,"gene_symbol":"TUBG1","hgnc_symbol":"TUBG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40761694-40767252","ensembl_id":"ENSG00000131462"}},"GRch38":{"90":{"location":"17:42609676-42615234","ensembl_id":"ENSG00000131462"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"TUBG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23603762","31086189"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":["Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":21,"hash_id":null,"name":"Tubulinopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nTubulinopathies refer to a wide spectrum of cortical malformations that result from defects in genes encoding the tubulin protein that regulates neuronal migration during brain development.\r\n\r\nBrain malformations include:\r\n-A range of lissencephalies (classic lissencephaly, lissencephaly with cerebellar hypoplasia, lissencephaly with agenesis of the corpus callosum, and centrally predominant pachygyria),\r\n-Polymicrogyria-like cortical dysplasia,\r\n-Simplified gyral pattern, and\r\n-Microlissencephaly often in combination with dysplastic basal ganglia, corpus callosum abnormalities, and hypoplasia or dysplasia of the brain stem and cerebellum.\r\n\r\nClinical features include motor and intellectual disabilities, epilepsy, and ocular findings of varying severity.\r\n\r\nWhere imaging and clinical features are less specific, consider applying the Malformations of Cortical Development superpanel.","status":"public","version":"1.2","version_created":"2024-09-11T12:06:06.122951+10:00","relevant_disorders":["Abnormal cortical gyration","HP:0002536"],"stats":{"number_of_genes":9,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["28489334","24360804"],"evidence":["Expert Review Amber","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Neurodegeneration with brain iron accumulation 6, MIM# 615643"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":26,"hash_id":null,"name":"Early-onset Parkinson disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"2.51","version_created":"2026-03-30T11:47:22.375379+11:00","relevant_disorders":["Abnormality of extrapyramidal motor function","HP:0002071"],"stats":{"number_of_genes":129,"number_of_strs":14,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SHAPY","SCAN-1"],"biotype":"protein_coding","hgnc_id":"HGNC:19721","gene_name":"calcium activated nucleotidase 1","omim_gene":["613165"],"alias_name":["Soluble Ca-Activated Nucleotidase, isozyme 1"],"gene_symbol":"CANT1","hgnc_symbol":"CANT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:76987799-77005949","ensembl_id":"ENSG00000171302"}},"GRch38":{"90":{"location":"17:78991717-79009867","ensembl_id":"ENSG00000171302"}}},"hgnc_date_symbol_changed":"2004-10-15"},"entity_type":"gene","entity_name":"CANT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland","Victorian Clinical Genetics Services","Melbourne Genomics Health Alliance Perinatal Autopsy Flagship"],"phenotypes":["Desbuquois dysplasia 1, MIM# 251450"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":28,"hash_id":null,"name":"Skeletal Dysplasia_Fetal","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.","status":"public","version":"0.246","version_created":"2026-03-02T10:22:48.751874+11:00","relevant_disorders":[],"stats":{"number_of_genes":157,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CHS"],"biotype":"protein_coding","hgnc_id":"HGNC:1968","gene_name":"lysosomal trafficking regulator","omim_gene":["606897"],"alias_name":null,"gene_symbol":"LYST","hgnc_symbol":"LYST","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:235824341-236046940","ensembl_id":"ENSG00000143669"}},"GRch38":{"90":{"location":"1:235661041-235883640","ensembl_id":"ENSG00000143669"}}},"hgnc_date_symbol_changed":"2004-12-10"},"entity_type":"gene","entity_name":"LYST","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Chediak-Higashi syndrome, MIM# 214500"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":37,"hash_id":null,"name":"Ocular and Oculocutaneous Albinism","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"1.16","version_created":"2026-03-27T19:38:01.497264+11:00","relevant_disorders":["Albinism HP:0001022; Ocular albinism","HP:0001107"],"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP727C091","MSL1v1","CENP-36","NSL1"],"biotype":"protein_coding","hgnc_id":"HGNC:24565","gene_name":"KAT8 regulatory NSL complex subunit 1","omim_gene":["612452"],"alias_name":["centromere protein 36"],"gene_symbol":"KANSL1","hgnc_symbol":"KANSL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:44107282-44302733","ensembl_id":"ENSG00000120071"}},"GRch38":{"90":{"location":"17:46029916-46225389","ensembl_id":"ENSG00000120071"}}},"hgnc_date_symbol_changed":"2012-02-20"},"entity_type":"gene","entity_name":"KANSL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19447831","22544367","22544363"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Koolen-De Vries syndrome, MIM# 610443","MONDO:0012496"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV"],"panel":{"id":41,"hash_id":null,"name":"Angelman Rett like syndromes","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"1.14","version_created":"2025-11-28T14:40:40.364746+11:00","relevant_disorders":[],"stats":{"number_of_genes":38,"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":["RET1"],"biotype":"protein_coding","hgnc_id":"HGNC:1975","gene_name":"visual system homeobox 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contains genes associated with isolated and syndromic anophthalmia, microphthalmia and coloboma.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Anophthalmia or Microphthalmia' v1.31 and 'Ocular coloboma' v1.38 panels, with discrepancies reviewed and reciprocal feedback provided to Genomics England.","status":"public","version":"1.57","version_created":"2026-03-03T11:23:37.804849+11:00","relevant_disorders":["Anophthalmia","HP:0000528;Microphthalmia","HP:0000568;Coloboma","HP:0000589"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9456","gene_name":"protein S","omim_gene":["176880"],"alias_name":null,"gene_symbol":"PROS1","hgnc_symbol":"PROS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:93591881-93692910","ensembl_id":"ENSG00000184500"}},"GRch38":{"90":{"location":"3:93873033-93974066","ensembl_id":"ENSG00000184500"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PROS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 2521801","PMID: 7545463","PMID: 2231208","PMID: 10063989"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Thrombophilia 5 due to protein S deficiency, autosomal dominant #612336","Thrombophilia 5 due to protein S deficiency, autosomal recessive #614514"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":54,"hash_id":null,"name":"Bleeding and Platelet 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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":["fumarase"],"biotype":"protein_coding","hgnc_id":"HGNC:3700","gene_name":"fumarate hydratase","omim_gene":["136850"],"alias_name":null,"gene_symbol":"FH","hgnc_symbol":"FH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:241660903-241683061","ensembl_id":"ENSG00000091483"}},"GRch38":{"90":{"location":"1:241497603-241519761","ensembl_id":"ENSG00000091483"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"FH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33528536","27541980","1432428"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Fumarase deficiency MIM#606812"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kv10.1","eag","h-eag","eag1"],"biotype":"protein_coding","hgnc_id":"HGNC:6250","gene_name":"potassium voltage-gated channel subfamily H member 1","omim_gene":["603305"],"alias_name":null,"gene_symbol":"KCNH1","hgnc_symbol":"KCNH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:210856555-211307457","ensembl_id":"ENSG00000143473"}},"GRch38":{"90":{"location":"1:210676823-211134180","ensembl_id":"ENSG00000143473"}}},"hgnc_date_symbol_changed":"1993-03-22"},"entity_type":"gene","entity_name":"KCNH1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Temple-Baraitser syndrome, MIM#611816","Zimmermann-Laband syndrome 1, MIM#135500"],"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":["RU2","KIAA1154","DCDC2A","NPHP19"],"biotype":"protein_coding","hgnc_id":"HGNC:18141","gene_name":"doublecortin domain containing 2","omim_gene":["605755"],"alias_name":null,"gene_symbol":"DCDC2","hgnc_symbol":"DCDC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:24171984-24358280","ensembl_id":"ENSG00000146038"}},"GRch38":{"90":{"location":"6:24171756-24358052","ensembl_id":"ENSG00000146038"}}},"hgnc_date_symbol_changed":"2003-05-20"},"entity_type":"gene","entity_name":"DCDC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27319779","27469900"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Sclerosing cholangitis, neonatal, MIM# 617394"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":78,"hash_id":null,"name":"Cholestasis","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS.\r\n\r\nIt includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause cholestasis.\r\n\r\nPlease also consider using the Liver Failure_Paediatric panel if clinically indicated.\r\n\r\nThe content of this panel has been compared against the Genomics England PanelApp 'Cholestasis' panel V1.21, with all discrepancies reviewed and resolved, and reciprocal feedback provided to Genomics England.","status":"public","version":"1.10","version_created":"2026-03-26T17:26:27.105917+11:00","relevant_disorders":["Cholestasis HP:0001396"],"stats":{"number_of_genes":99,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CYPOR","FLJ26468"],"biotype":"protein_coding","hgnc_id":"HGNC:9208","gene_name":"cytochrome p450 oxidoreductase","omim_gene":["124015"],"alias_name":null,"gene_symbol":"POR","hgnc_symbol":"POR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:75528518-75616173","ensembl_id":"ENSG00000127948"}},"GRch38":{"90":{"location":"7:75899200-75986855","ensembl_id":"ENSG00000127948"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"POR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27068427"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750","Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571"],"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":"1.46","version_created":"2026-04-02T12:35:34.329595+11:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":141,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OBR","CD295"],"biotype":"protein_coding","hgnc_id":"HGNC:6554","gene_name":"leptin receptor","omim_gene":["601007"],"alias_name":null,"gene_symbol":"LEPR","hgnc_symbol":"LEPR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:65886248-66107242","ensembl_id":"ENSG00000116678"}},"GRch38":{"90":{"location":"1:65420652-65641559","ensembl_id":"ENSG00000116678"}}},"hgnc_date_symbol_changed":"1996-05-09"},"entity_type":"gene","entity_name":"LEPR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17229951","29545012"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Obesity, morbid, due to leptin receptor deficiency (MIM#614963)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","clinical trial"],"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":"1.46","version_created":"2026-04-02T12:35:34.329595+11:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":141,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PMP35","PAF-1","RNF72","ZWS3"],"biotype":"protein_coding","hgnc_id":"HGNC:9717","gene_name":"peroxisomal biogenesis factor 2","omim_gene":["170993"],"alias_name":["Zellweger syndrome","peroxin 2"],"gene_symbol":"PEX2","hgnc_symbol":"PEX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:77892494-77913280","ensembl_id":"ENSG00000164751"}},"GRch38":{"90":{"location":"8:76980258-77001044","ensembl_id":"ENSG00000164751"}}},"hgnc_date_symbol_changed":"2010-01-25"},"entity_type":"gene","entity_name":"PEX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TGASE","TGK","LI","LI1"],"biotype":"protein_coding","hgnc_id":"HGNC:11777","gene_name":"transglutaminase 1","omim_gene":["190195"],"alias_name":["K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"],"gene_symbol":"TGM1","hgnc_symbol":"TGM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:24718320-24733638","ensembl_id":"ENSG00000092295"}},"GRch38":{"90":{"location":"14:24249114-24264432","ensembl_id":"ENSG00000092295"}}},"hgnc_date_symbol_changed":"1990-05-25"},"entity_type":"gene","entity_name":"TGM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19890349","24261627","30302839"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":124,"hash_id":null,"name":"Ichthyosis and Porokeratosis","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH. It contains genes that cause non-syndromic and syndromic ichthyosis and porokeratosis.","status":"public","version":"1.25","version_created":"2026-03-19T12:26:58.874178+11:00","relevant_disorders":["Ichthyosis","HP:0008064;Porokeratosis","HP:0200044"],"stats":{"number_of_genes":65,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ23560"],"biotype":"protein_coding","hgnc_id":"HGNC:26291","gene_name":"Bardet-Biedl syndrome 10","omim_gene":["610148"],"alias_name":null,"gene_symbol":"BBS10","hgnc_symbol":"BBS10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:76738254-76742222","ensembl_id":"ENSG00000179941"}},"GRch38":{"90":{"location":"12:76344474-76348442","ensembl_id":"ENSG00000179941"}}},"hgnc_date_symbol_changed":"2006-04-28"},"entity_type":"gene","entity_name":"BBS10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16582908","19252258"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Bardet-Biedl syndrome 10, MIM# 615987"],"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":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TREB36"],"biotype":"protein_coding","hgnc_id":"HGNC:783","gene_name":"activating transcription factor 1","omim_gene":["123803"],"alias_name":null,"gene_symbol":"ATF1","hgnc_symbol":"ATF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:51157493-51214905","ensembl_id":"ENSG00000123268"}},"GRch38":{"90":{"location":"12:50763710-50821122","ensembl_id":"ENSG00000123268"}}},"hgnc_date_symbol_changed":"1994-03-16"},"entity_type":"gene","entity_name":"ATF1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":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":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NEPH1"],"biotype":"protein_coding","hgnc_id":"HGNC:15734","gene_name":"kirre like nephrin family adhesion molecule 1","omim_gene":["607428"],"alias_name":["nephrin-like protein 1"],"gene_symbol":"KIRREL1","hgnc_symbol":"KIRREL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:157963063-158070052","ensembl_id":"ENSG00000183853"}},"GRch38":{"90":{"location":"1:157993273-158100262","ensembl_id":"ENSG00000183853"}}},"hgnc_date_symbol_changed":"2017-06-08"},"entity_type":"gene","entity_name":"KIRREL1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["31472902"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Nephrotic syndrome, type 23, MIM#\t619201"],"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":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["BPIFF"],"biotype":"protein_coding","hgnc_id":"HGNC:1869","gene_name":"cholesteryl ester transfer protein","omim_gene":["118470"],"alias_name":["BPI fold containing family F"],"gene_symbol":"CETP","hgnc_symbol":"CETP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:56995762-57017757","ensembl_id":"ENSG00000087237"}},"GRch38":{"90":{"location":"16:56961850-56983845","ensembl_id":"ENSG00000087237"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CETP","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["12070157","2586614","27604308","2215607","2390095"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Hyperalphalipoproteinemia MIM#143470","Disorders of high density lipoprotein metabolism"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2190","gene_name":"collagen type XIII alpha 1 chain","omim_gene":["120350"],"alias_name":null,"gene_symbol":"COL13A1","hgnc_symbol":"COL13A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:71561644-71724031","ensembl_id":"ENSG00000197467"}},"GRch38":{"90":{"location":"10:69801931-69964275","ensembl_id":"ENSG00000197467"}}},"hgnc_date_symbol_changed":"1988-08-05"},"entity_type":"gene","entity_name":"COL13A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31081514","28369367","20844119"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Myasthenic syndrome, congenital, 19 (OMIM #616720)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["H4/g","dJ221C16.1"],"biotype":"protein_coding","hgnc_id":"HGNC:4787","gene_name":"histone cluster 1 H4 family member c","omim_gene":["602827"],"alias_name":null,"gene_symbol":"HIST1H4C","hgnc_symbol":"HIST1H4C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:26104104-26104518","ensembl_id":"ENSG00000197061"}},"GRch38":{"90":{"location":"6:26103876-26104310","ensembl_id":"ENSG00000197061"}}},"hgnc_date_symbol_changed":"2003-02-21"},"entity_type":"gene","entity_name":"HIST1H4C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28920961","35202563"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["new gene name"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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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":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RNASE3L","Etohi2","HSA242976","RN3"],"biotype":"protein_coding","hgnc_id":"HGNC:17904","gene_name":"drosha ribonuclease 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and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FinGER8"],"biotype":"protein_coding","hgnc_id":"HGNC:30511","gene_name":"Yip1 interacting factor homolog B, membrane trafficking protein","omim_gene":null,"alias_name":null,"gene_symbol":"YIF1B","hgnc_symbol":"YIF1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:38795753-38807913","ensembl_id":"ENSG00000167645"}},"GRch38":{"90":{"location":"19:38305104-38317273","ensembl_id":"ENSG00000167645"}}},"hgnc_date_symbol_changed":"2005-03-14"},"entity_type":"gene","entity_name":"YIF1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32006098","26077767"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Kaya-Barakat-Masson syndrome, MIM# 619125","Central hypotonia","Failure to thrive","Microcephaly","Global developmental delay","Intellectual disability","Seizures","Spasticity","Abnormality of movement"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8806","gene_name":"pyruvate dehydrogenase E1 alpha 1 subunit","omim_gene":["300502"],"alias_name":["pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial"],"gene_symbol":"PDHA1","hgnc_symbol":"PDHA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:19362011-19379823","ensembl_id":"ENSG00000131828"}},"GRch38":{"90":{"location":"X:19343893-19361705","ensembl_id":"ENSG00000131828"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"PDHA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["8032855"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Pyruvate dehydrogenase E1-alpha deficiency, MIM#\t312170"],"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":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ10718","MLAT4"],"biotype":"protein_coding","hgnc_id":"HGNC:19317","gene_name":"prolyl 3-hydroxylase 2","omim_gene":["610341"],"alias_name":["procollagen-proline 3-dioxygenase 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panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.","status":"public","version":"0.239","version_created":"2026-03-12T18:51:41.043263+11:00","relevant_disorders":["Proteinuria HP:0000093"],"stats":{"number_of_genes":88,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BBS8","RP51"],"biotype":"protein_coding","hgnc_id":"HGNC:20087","gene_name":"tetratricopeptide repeat domain 8","omim_gene":["608132"],"alias_name":null,"gene_symbol":"TTC8","hgnc_symbol":"TTC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:89290497-89344335","ensembl_id":"ENSG00000165533"}},"GRch38":{"90":{"location":"14:88824153-88881078","ensembl_id":"ENSG00000165533"}}},"hgnc_date_symbol_changed":"2002-12-17"},"entity_type":"gene","entity_name":"TTC8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14520415","19797195"],"evidence":["Expert Review Green","KidGen_CilioNephronop v38.1.0","Victorian Clinical Genetics Services"],"phenotypes":["Bardet-Biedl syndrome 8, MIM# 615985"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":193,"hash_id":null,"name":"Renal Ciliopathies and Nephronophthisis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen","status":"public","version":"1.53","version_created":"2026-03-19T17:14:29.802874+11:00","relevant_disorders":["Abnormality of renal medullary morphology","HP:0025361; Renal cyst","HP:0000107"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MEK4","JNKK1","PRKMK4","MKK4"],"biotype":"protein_coding","hgnc_id":"HGNC:6844","gene_name":"mitogen-activated protein kinase kinase 4","omim_gene":["601335"],"alias_name":null,"gene_symbol":"MAP2K4","hgnc_symbol":"MAP2K4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:11924141-12047147","ensembl_id":"ENSG00000065559"}},"GRch38":{"90":{"location":"17:12020824-12143830","ensembl_id":"ENSG00000065559"}}},"hgnc_date_symbol_changed":"1997-11-11"},"entity_type":"gene","entity_name":"MAP2K4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["41480045"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic 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However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0581","PLC-I","PLC154"],"biotype":"protein_coding","hgnc_id":"HGNC:15917","gene_name":"phospholipase C beta 1","omim_gene":["607120"],"alias_name":null,"gene_symbol":"PLCB1","hgnc_symbol":"PLCB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:8112824-8949003","ensembl_id":"ENSG00000182621"}},"GRch38":{"90":{"location":"20:8077251-8968360","ensembl_id":"ENSG00000182621"}}},"hgnc_date_symbol_changed":"2001-06-21"},"entity_type":"gene","entity_name":"PLCB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24684524","20833646","22690784","26818157"],"evidence":["Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Epileptic encephalopathy, early infantile, 12 (MIM#613722)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["SV/CNV"],"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":["FHF1"],"biotype":"protein_coding","hgnc_id":"HGNC:3668","gene_name":"fibroblast growth factor 12","omim_gene":["601513"],"alias_name":["fibroblast growth factor 12B","fibroblast growth factor homologous factor 1","myocyte-activating factor","fibroblast growth factor FGF-12b"],"gene_symbol":"FGF12","hgnc_symbol":"FGF12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:191857184-192485553","ensembl_id":"ENSG00000114279"}},"GRch38":{"90":{"location":"3:192139395-192767764","ensembl_id":"ENSG00000114279"}}},"hgnc_date_symbol_changed":"1996-10-26"},"entity_type":"gene","entity_name":"FGF12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32645220","27164707","27830185","27872899"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Developmental and epileptic encephalopathy 47, MIM# 617166"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. 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":["MGC25181","D2HGD","FLJ42195"],"biotype":"protein_coding","hgnc_id":"HGNC:28358","gene_name":"D-2-hydroxyglutarate dehydrogenase","omim_gene":["609186"],"alias_name":null,"gene_symbol":"D2HGDH","hgnc_symbol":"D2HGDH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:242673994-242708231","ensembl_id":"ENSG00000180902"}},"GRch38":{"90":{"location":"2:241734579-241768816","ensembl_id":"ENSG00000180902"}}},"hgnc_date_symbol_changed":"2006-03-09"},"entity_type":"gene","entity_name":"D2HGDH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25778941","31349060","15609246","20020533"],"evidence":["Expert Review Green","Expert Review Green","NHS GMS","Literature","Victorian Clinical Genetics Services"],"phenotypes":["D-2-hydroxyglutaric aciduria MIM#600721"],"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":437,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8850","gene_name":"peroxisomal biogenesis factor 1","omim_gene":["602136"],"alias_name":null,"gene_symbol":"PEX1","hgnc_symbol":"PEX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92116334-92157845","ensembl_id":"ENSG00000127980"}},"GRch38":{"90":{"location":"7:92487020-92528531","ensembl_id":"ENSG00000127980"}}},"hgnc_date_symbol_changed":"1998-01-08"},"entity_type":"gene","entity_name":"PEX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSS","MPS3A","SFMD"],"biotype":"protein_coding","hgnc_id":"HGNC:10818","gene_name":"N-sulfoglucosamine sulfohydrolase","omim_gene":["605270"],"alias_name":["sulfamidase","mucopolysaccharidosis type IIIA"],"gene_symbol":"SGSH","hgnc_symbol":"SGSH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:78180515-78194722","ensembl_id":"ENSG00000181523"}},"GRch38":{"90":{"location":"17:80206716-80220923","ensembl_id":"ENSG00000181523"}}},"hgnc_date_symbol_changed":"1997-06-24"},"entity_type":"gene","entity_name":"SGSH","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":"0.610","version_created":"2026-03-31T18:57:58.699788+11:00","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":["Kir4.1","Kir1.2"],"biotype":"protein_coding","hgnc_id":"HGNC:6256","gene_name":"potassium voltage-gated channel subfamily J member 10","omim_gene":["602208"],"alias_name":null,"gene_symbol":"KCNJ10","hgnc_symbol":"KCNJ10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:160007257-160040038","ensembl_id":"ENSG00000177807"}},"GRch38":{"90":{"location":"1:159998651-160070483","ensembl_id":"ENSG00000177807"}}},"hgnc_date_symbol_changed":"1996-07-26"},"entity_type":"gene","entity_name":"KCNJ10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21849804","19289823"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["SESAME syndrome, MIM#\t612780"],"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":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PALMCOX"],"biotype":"protein_coding","hgnc_id":"HGNC:119","gene_name":"acyl-CoA oxidase 1","omim_gene":["609751"],"alias_name":["palmitoyl-CoA oxidase"],"gene_symbol":"ACOX1","hgnc_symbol":"ACOX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:73937588-73975515","ensembl_id":"ENSG00000161533"}},"GRch38":{"90":{"location":"17:75941507-75979363","ensembl_id":"ENSG00000161533"}}},"hgnc_date_symbol_changed":"1994-02-11"},"entity_type":"gene","entity_name":"ACOX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32169171"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mitchell syndrome, MIM# 618960"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","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":["p16-Arc","ARC16","dJ127C7.3"],"biotype":"protein_coding","hgnc_id":"HGNC:708","gene_name":"actin related protein 2/3 complex subunit 5","omim_gene":["604227"],"alias_name":["Arp2/3 protein complex subunit p16"],"gene_symbol":"ARPC5","hgnc_symbol":"ARPC5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:183592401-183604892","ensembl_id":"ENSG00000162704"}},"GRch38":{"90":{"location":"1:183620846-183635757","ensembl_id":"ENSG00000162704"}}},"hgnc_date_symbol_changed":"1999-08-06"},"entity_type":"gene","entity_name":"ARPC5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37382373","37349293"],"evidence":["Expert Review Green","Expert list","Expert Review Green","Literature","Literature"],"phenotypes":["Immunodeficiency 133 with autoimmunity and autoinflammation\tMIM#620565"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.40","version_created":"2026-03-27T14:13:44.676217+11:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":117,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["OIASI","IFI-4"],"biotype":"protein_coding","hgnc_id":"HGNC:8086","gene_name":"2'-5'-oligoadenylate synthetase 1","omim_gene":["164350"],"alias_name":null,"gene_symbol":"OAS1","hgnc_symbol":"OAS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:113344582-113369990","ensembl_id":"ENSG00000089127"}},"GRch38":{"90":{"location":"12:112906777-112933222","ensembl_id":"ENSG00000089127"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"OAS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34145065"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":238,"hash_id":null,"name":"Autoinflammatory Disorders","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).","status":"public","version":"2.46","version_created":"2026-03-16T12:22:08.572710+11:00","relevant_disorders":["Fever HP:0001945;Systemic autoinflammation HP:0033428"],"stats":{"number_of_genes":108,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HUSPECV","BSPECV","HUBSPECV"],"biotype":"protein_coding","hgnc_id":"HGNC:15680","gene_name":"spectrin beta, non-erythrocytic 5","omim_gene":["605916"],"alias_name":["beta V spectrin"],"gene_symbol":"SPTBN5","hgnc_symbol":"SPTBN5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:42140345-42186275","ensembl_id":"ENSG00000137877"}},"GRch38":{"90":{"location":"15:41848144-41894077","ensembl_id":"ENSG00000137877"}}},"hgnc_date_symbol_changed":"2001-05-29"},"entity_type":"gene","entity_name":"SPTBN5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["35782384","36117916","36238261"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, SPTBN5-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P73"],"biotype":"protein_coding","hgnc_id":"HGNC:12003","gene_name":"tumor protein p73","omim_gene":["601990"],"alias_name":null,"gene_symbol":"TP73","hgnc_symbol":"TP73","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:3569084-3652765","ensembl_id":"ENSG00000078900"}},"GRch38":{"90":{"location":"1:3652520-3736201","ensembl_id":"ENSG00000078900"}}},"hgnc_date_symbol_changed":"1997-11-12"},"entity_type":"gene","entity_name":"TP73","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31130284","34077761"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466","Intellectual disability","lissencephaly"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["AS3","KIAA0979","FLJ23236","CG008"],"biotype":"protein_coding","hgnc_id":"HGNC:20418","gene_name":"PDS5 cohesin associated factor B","omim_gene":["605333"],"alias_name":null,"gene_symbol":"PDS5B","hgnc_symbol":"PDS5B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:33160564-33352157","ensembl_id":"ENSG00000083642"}},"GRch38":{"90":{"location":"13:32586427-32778019","ensembl_id":"ENSG00000083642"}}},"hgnc_date_symbol_changed":"2007-07-18"},"entity_type":"gene","entity_name":"PDS5B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["10.64898/2026.02.23.26346364"],"evidence":["Expert Review Amber","Literature","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["preprint"],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TRS33","MGC2650","HSPC289"],"biotype":"protein_coding","hgnc_id":"HGNC:23069","gene_name":"trafficking protein particle complex 6A","omim_gene":["610396"],"alias_name":null,"gene_symbol":"TRAPPC6A","hgnc_symbol":"TRAPPC6A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:45666186-45681495","ensembl_id":"ENSG00000007255"}},"GRch38":{"90":{"location":"19:45162928-45178237","ensembl_id":"ENSG00000007255"}}},"hgnc_date_symbol_changed":"2003-09-03"},"entity_type":"gene","entity_name":"TRAPPC6A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TUBA3","B-ALPHA-1","FLJ25113"],"biotype":"protein_coding","hgnc_id":"HGNC:20766","gene_name":"tubulin alpha 1a","omim_gene":["602529"],"alias_name":["tubulin, alpha, brain-specific"],"gene_symbol":"TUBA1A","hgnc_symbol":"TUBA1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:49578579-49583107","ensembl_id":"ENSG00000167552"}},"GRch38":{"90":{"location":"12:49184796-49189324","ensembl_id":"ENSG00000167552"}}},"hgnc_date_symbol_changed":"2007-01-30"},"entity_type":"gene","entity_name":"TUBA1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Lissencephaly 3, MIM# 611603"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AIF","CMTX4"],"biotype":"protein_coding","hgnc_id":"HGNC:8768","gene_name":"apoptosis inducing factor mitochondria associated 1","omim_gene":["300169"],"alias_name":null,"gene_symbol":"AIFM1","hgnc_symbol":"AIFM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:129263337-129299861","ensembl_id":"ENSG00000156709"}},"GRch38":{"90":{"location":"X:130129362-130165887","ensembl_id":"ENSG00000156709"}}},"hgnc_date_symbol_changed":"2006-11-16"},"entity_type":"gene","entity_name":"AIFM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33439541","28842795","27102849"],"evidence":["Expert Review Green","Literature"],"phenotypes":["spondyloepimetaphyseal dysplasia, Bieganski type, MONDO:0010275","Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":[]},{"gene_data":{"alias":["SCEH"],"biotype":"protein_coding","hgnc_id":"HGNC:3151","gene_name":"enoyl-CoA hydratase, short chain 1","omim_gene":["602292"],"alias_name":["short chain enoyl-CoA hydratase"],"gene_symbol":"ECHS1","hgnc_symbol":"ECHS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:135175984-135187193","ensembl_id":"ENSG00000127884"}},"GRch38":{"90":{"location":"10:133362480-133373689","ensembl_id":"ENSG00000127884"}}},"hgnc_date_symbol_changed":"1996-12-17"},"entity_type":"gene","entity_name":"ECHS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27090768","28039521"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277","paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0028","LEURS","MGC26121","mtLeuRS"],"biotype":"protein_coding","hgnc_id":"HGNC:17095","gene_name":"leucyl-tRNA synthetase 2, mitochondrial","omim_gene":["604544"],"alias_name":["leucine tRNA ligase 2, mitochondrial"],"gene_symbol":"LARS2","hgnc_symbol":"LARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:45429998-45590913","ensembl_id":"ENSG00000011376"}},"GRch38":{"90":{"location":"3:45388506-45549421","ensembl_id":"ENSG00000011376"}}},"hgnc_date_symbol_changed":"2003-09-01"},"entity_type":"gene","entity_name":"LARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29205794","32423379","30737337"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Perrault syndrome 4","Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021","Leukodystrophy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.202","version_created":"2026-04-02T15:02:17.166617+11:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1449","P80","SPG60"],"biotype":"protein_coding","hgnc_id":"HGNC:30914","gene_name":"WD repeat domain 48","omim_gene":["612167"],"alias_name":null,"gene_symbol":"WDR48","hgnc_symbol":"WDR48","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:39093489-39138155","ensembl_id":"ENSG00000114742"}},"GRch38":{"90":{"location":"3:39051998-39096671","ensembl_id":"ENSG00000114742"}}},"hgnc_date_symbol_changed":"2005-01-10"},"entity_type":"gene","entity_name":"WDR48","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24482476"],"evidence":["Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Spastic paraplegia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DXS1272E","XE169"],"biotype":"protein_coding","hgnc_id":"HGNC:11114","gene_name":"lysine demethylase 5C","omim_gene":["314690"],"alias_name":null,"gene_symbol":"KDM5C","hgnc_symbol":"KDM5C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:53220503-53254604","ensembl_id":"ENSG00000126012"}},"GRch38":{"90":{"location":"X:53191321-53225422","ensembl_id":"ENSG00000126012"}}},"hgnc_date_symbol_changed":"2009-04-06"},"entity_type":"gene","entity_name":"KDM5C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15586325","32279304"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534","MONDO:0010355"],"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":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ETFQO"],"biotype":"protein_coding","hgnc_id":"HGNC:3483","gene_name":"electron transfer flavoprotein dehydrogenase","omim_gene":["231675"],"alias_name":null,"gene_symbol":"ETFDH","hgnc_symbol":"ETFDH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:159593277-159630775","ensembl_id":"ENSG00000171503"}},"GRch38":{"90":{"location":"4:158672125-158709623","ensembl_id":"ENSG00000171503"}}},"hgnc_date_symbol_changed":"1993-12-13"},"entity_type":"gene","entity_name":"ETFDH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32608139","35309592","26821934"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Multiple acyl-CoA dehydrogenase deficiency MONDO:0009282","sensory neuropathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["D12S1889","NKHC","MY050"],"biotype":"protein_coding","hgnc_id":"HGNC:6323","gene_name":"kinesin family member 5A","omim_gene":["602821"],"alias_name":null,"gene_symbol":"KIF5A","hgnc_symbol":"KIF5A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:57943781-57980415","ensembl_id":"ENSG00000155980"}},"GRch38":{"90":{"location":"12:57549998-57586632","ensembl_id":"ENSG00000155980"}}},"hgnc_date_symbol_changed":"1998-08-24"},"entity_type":"gene","entity_name":"KIF5A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30057544","29892902","28902413","26403765","25695920","25008398"],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green"],"phenotypes":["Hereditary Neuropathies","HMSN"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary 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panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RBCK2","XAP4","RNF54","ZRANB4","UBCE7IP3","HOIL1"],"biotype":"protein_coding","hgnc_id":"HGNC:15864","gene_name":"RANBP2-type and C3HC4-type zinc finger containing 1","omim_gene":["610924"],"alias_name":["heme-oxidized IRP2 ubiquitin ligase 1"],"gene_symbol":"RBCK1","hgnc_symbol":"RBCK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:388142-411610","ensembl_id":"ENSG00000125826"}},"GRch38":{"90":{"location":"20:407498-430966","ensembl_id":"ENSG00000125826"}}},"hgnc_date_symbol_changed":"2006-06-28"},"entity_type":"gene","entity_name":"RBCK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29260357","29695863"],"evidence":["Expert Review Green","Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Polyglucosan body myopathy 1 with or without immunodeficiency 615895"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3084,"hash_id":null,"name":"Rhabdomyolysis and Metabolic Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nDepending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.46","version_created":"2026-03-31T19:05:14.301918+11:00","relevant_disorders":["Rhabdomyolysis","HP:0003201;Exercise intolerance","HP:0003546;Metabolic myopathy","MONDO:0020123"],"stats":{"number_of_genes":124,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ATF6A"],"biotype":"protein_coding","hgnc_id":"HGNC:791","gene_name":"activating transcription factor 6","omim_gene":["605537"],"alias_name":["activating transcription factor 6 alpha"],"gene_symbol":"ATF6","hgnc_symbol":"ATF6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161736084-161933860","ensembl_id":"ENSG00000118217"}},"GRch38":{"90":{"location":"1:161766294-161964070","ensembl_id":"ENSG00000118217"}}},"hgnc_date_symbol_changed":"1999-12-15"},"entity_type":"gene","entity_name":"ATF6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Achromatopsia 7, 616517 (3), Autosomal recessive"],"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":["FLJ32926","CILD20"],"biotype":"protein_coding","hgnc_id":"HGNC:26560","gene_name":"coiled-coil domain containing 114","omim_gene":["615038"],"alias_name":null,"gene_symbol":"CCDC114","hgnc_symbol":"CCDC114","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:48799714-48825151","ensembl_id":"ENSG00000105479"}},"GRch38":{"90":{"location":"19:48296457-48321894","ensembl_id":"ENSG00000105479"}}},"hgnc_date_symbol_changed":"2006-06-21"},"entity_type":"gene","entity_name":"CCDC114","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ciliary dyskinesia, primary, 20, 615067 (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:8512","gene_name":"ornithine carbamoyltransferase","omim_gene":["300461"],"alias_name":null,"gene_symbol":"OTC","hgnc_symbol":"OTC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:38211798-38280703","ensembl_id":"ENSG00000036473"}},"GRch38":{"90":{"location":"X:38352545-38421450","ensembl_id":"ENSG00000036473"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"OTC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32008222","24850570","23640148"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Ornithine carbamoyltransferase deficiency, MIM# 311250"],"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":3141,"hash_id":null,"name":"Stroke","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.","status":"public","version":"1.48","version_created":"2026-03-31T17:20:59.161732+11:00","relevant_disorders":["Stroke","HP:0001297"],"stats":{"number_of_genes":75,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP564I122","cblC"],"biotype":"protein_coding","hgnc_id":"HGNC:24525","gene_name":"methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria","omim_gene":["609831"],"alias_name":null,"gene_symbol":"MMACHC","hgnc_symbol":"MMACHC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45965725-45976739","ensembl_id":"ENSG00000132763"}},"GRch38":{"90":{"location":"1:45500053-45513382","ensembl_id":"ENSG00000132763"}}},"hgnc_date_symbol_changed":"2006-01-12"},"entity_type":"gene","entity_name":"MMACHC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["12552044","11742888","30356112"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Methylmalonic aciduria and homocystinuria, cblC type\tMIM#277400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3141,"hash_id":null,"name":"Stroke","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.","status":"public","version":"1.48","version_created":"2026-03-31T17:20:59.161732+11:00","relevant_disorders":["Stroke","HP:0001297"],"stats":{"number_of_genes":75,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ25972","CMF608"],"biotype":"protein_coding","hgnc_id":"HGNC:26384","gene_name":"immunoglobulin superfamily member 10","omim_gene":["617351"],"alias_name":null,"gene_symbol":"IGSF10","hgnc_symbol":"IGSF10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:151143172-151176497","ensembl_id":"ENSG00000152580"}},"GRch38":{"90":{"location":"3:151425384-151458709","ensembl_id":"ENSG00000152580"}}},"hgnc_date_symbol_changed":"2004-03-04"},"entity_type":"gene","entity_name":"IGSF10","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["27137492","31042289"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Disorder of sex differentiation, MONDO:0002145, IGSF10-related","delayed puberty","hypogonadotropic hypogonadism"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.408","version_created":"2026-03-27T17:02:19.488211+11:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":163,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ20321","ZNF693","castor","cst","SRG"],"biotype":"protein_coding","hgnc_id":"HGNC:26002","gene_name":"castor zinc finger 1","omim_gene":["609895"],"alias_name":["zinc finger protein 693","survival related gene"],"gene_symbol":"CASZ1","hgnc_symbol":"CASZ1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:10696661-10856707","ensembl_id":"ENSG00000130940"}},"GRch38":{"90":{"location":"1:10636604-10796650","ensembl_id":"ENSG00000130940"}}},"hgnc_date_symbol_changed":"2005-05-13"},"entity_type":"gene","entity_name":"CASZ1","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["PMID: 28099117","36293425","31268246"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Dilated cardiomyopathy, MONDO:0005021, CASZ1-related","left ventricular non compaction"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GAP1M"],"biotype":"protein_coding","hgnc_id":"HGNC:9872","gene_name":"RAS p21 protein activator 2","omim_gene":["601589"],"alias_name":null,"gene_symbol":"RASA2","hgnc_symbol":"RASA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:141205889-141334184","ensembl_id":"ENSG00000155903"}},"GRch38":{"90":{"location":"3:141487047-141615342","ensembl_id":"ENSG00000155903"}}},"hgnc_date_symbol_changed":"1996-11-15"},"entity_type":"gene","entity_name":"RASA2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["PMID: 25049390"],"evidence":["Expert Review Amber","London South GLH","NHS GMS"],"phenotypes":["Noonan syndrome MONDO:0018997, RASA2-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CARK"],"biotype":"protein_coding","hgnc_id":"HGNC:19661","gene_name":"TNNI3 interacting kinase","omim_gene":["613932"],"alias_name":null,"gene_symbol":"TNNI3K","hgnc_symbol":"TNNI3K","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:74663947-75010112","ensembl_id":"ENSG00000116783"}},"GRch38":{"90":{"location":"1:74235401-74544428","ensembl_id":"ENSG00000116783"}}},"hgnc_date_symbol_changed":"2004-01-19"},"entity_type":"gene","entity_name":"TNNI3K","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Cardiac conduction disease with or without dilated cardiomyopathy 616117"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category B gene"],"phenotypes":["Dyskeratosis congenita"],"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":["SDR11E2"],"biotype":"protein_coding","hgnc_id":"HGNC:5218","gene_name":"hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2","omim_gene":["613890"],"alias_name":["short chain dehydrogenase/reductase family 11E, member 2"],"gene_symbol":"HSD3B2","hgnc_symbol":"HSD3B2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:119957554-119965658","ensembl_id":"ENSG00000203859"}},"GRch38":{"90":{"location":"1:119414931-119423035","ensembl_id":"ENSG00000203859"}}},"hgnc_date_symbol_changed":"1992-09-10"},"entity_type":"gene","entity_name":"HSD3B2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency MIM# 201810"],"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":["GSD1b","GSD1c","GSD1d"],"biotype":"protein_coding","hgnc_id":"HGNC:4061","gene_name":"solute carrier family 37 member 4","omim_gene":["602671"],"alias_name":null,"gene_symbol":"SLC37A4","hgnc_symbol":"SLC37A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118894824-118901616","ensembl_id":"ENSG00000137700"}},"GRch38":{"90":{"location":"11:119024114-119030906","ensembl_id":"ENSG00000137700"}}},"hgnc_date_symbol_changed":"2003-09-10"},"entity_type":"gene","entity_name":"SLC37A4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Glycogen storage disease Ib"],"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":["ATIII","MGC22579"],"biotype":"protein_coding","hgnc_id":"HGNC:775","gene_name":"serpin family C member 1","omim_gene":["107300"],"alias_name":["antithrombin III","signal peptide antithrombin part 1","coding sequence signal peptide antithrombin part 1","antithrombin (aa 375-432)"],"gene_symbol":"SERPINC1","hgnc_symbol":"SERPINC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:173872947-173886516","ensembl_id":"ENSG00000117601"}},"GRch38":{"90":{"location":"1:173903804-173917378","ensembl_id":"ENSG00000117601"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"SERPINC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Thrombophilia due to antithrombin III deficiency"],"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":["JTK10"],"biotype":"protein_coding","hgnc_id":"HGNC:6192","gene_name":"Janus kinase 2","omim_gene":["147796"],"alias_name":null,"gene_symbol":"JAK2","hgnc_symbol":"JAK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:4985033-5128183","ensembl_id":"ENSG00000096968"}},"GRch38":{"90":{"location":"9:4984390-5128183","ensembl_id":"ENSG00000096968"}}},"hgnc_date_symbol_changed":"1992-04-16"},"entity_type":"gene","entity_name":"JAK2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"Other","publications":["27389715"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Erythrocytosis, somatic, 133100"],"mode_of_inheritance":"Other","tags":["somatic"],"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":["FLJ14917"],"biotype":"protein_coding","hgnc_id":"HGNC:21061","gene_name":"serine active site containing 1","omim_gene":["614725"],"alias_name":null,"gene_symbol":"SERAC1","hgnc_symbol":"SERAC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:158530536-158589312","ensembl_id":"ENSG00000122335"}},"GRch38":{"90":{"location":"6:158109515-158168270","ensembl_id":"ENSG00000122335"}}},"hgnc_date_symbol_changed":"2003-05-12"},"entity_type":"gene","entity_name":"SERAC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29205472"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM#\t614739"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3400,"hash_id":null,"name":"Liver Failure_Paediatric","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause liver failure in children.\r\n\r\nPlease also consider using the Cholestasis panel if clinically indicated.","status":"public","version":"1.33","version_created":"2026-01-08T17:48:33.703909+11:00","relevant_disorders":["Liver failure","HP:0001399"],"stats":{"number_of_genes":68,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ALR","MLL4","CAGL114"],"biotype":"protein_coding","hgnc_id":"HGNC:7133","gene_name":"lysine methyltransferase 2D","omim_gene":["602113"],"alias_name":null,"gene_symbol":"KMT2D","hgnc_symbol":"KMT2D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:49412758-49453557","ensembl_id":"ENSG00000167548"}},"GRch38":{"90":{"location":"12:49018975-49059774","ensembl_id":"ENSG00000167548"}}},"hgnc_date_symbol_changed":"2013-05-09"},"entity_type":"gene","entity_name":"KMT2D","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Kabuki syndrome 1 - 147920"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":"0.85","version_created":"2026-03-26T15:53:21.747538+11:00","relevant_disorders":["Abnormal hand morphology","HP:0005922; Abnormal foot morphology","HP:0001760"],"stats":{"number_of_genes":101,"number_of_strs":1,"number_of_regions":4},"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":["PTS2R","RD"],"biotype":"protein_coding","hgnc_id":"HGNC:8860","gene_name":"peroxisomal biogenesis factor 7","omim_gene":["601757"],"alias_name":["Refsum disease"],"gene_symbol":"PEX7","hgnc_symbol":"PEX7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:137143717-137235075","ensembl_id":"ENSG00000112357"}},"GRch38":{"90":{"location":"6:136822564-136913937","ensembl_id":"ENSG00000112357"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PEX7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11781871","12325024"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Peroxisome biogenesis disorder 9B, OMIM# 614879","Rhizomelic chondrodysplasia punctata, type 1, OMIM# 215100"],"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":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":5},"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":["FLJ20753","KIAA1640","FLJ32021","CILD15","FAP172"],"biotype":"protein_coding","hgnc_id":"HGNC:26090","gene_name":"coiled-coil domain containing 40","omim_gene":["613799"],"alias_name":null,"gene_symbol":"CCDC40","hgnc_symbol":"CCDC40","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:78010435-78074412","ensembl_id":"ENSG00000141519"}},"GRch38":{"90":{"location":"17:80036632-80100613","ensembl_id":"ENSG00000141519"}}},"hgnc_date_symbol_changed":"2005-12-13"},"entity_type":"gene","entity_name":"CCDC40","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21131974","23255504","31879361","31765523","31650533"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 15, MIM#613808"],"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":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":5},"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":["Dnahc9","KIAA0357","HL20","HL-20","DNAL1","DYH9"],"biotype":"protein_coding","hgnc_id":"HGNC:2953","gene_name":"dynein axonemal heavy chain 9","omim_gene":["603330"],"alias_name":null,"gene_symbol":"DNAH9","hgnc_symbol":"DNAH9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:11501748-11873065","ensembl_id":"ENSG00000007174"}},"GRch38":{"90":{"location":"17:11598431-11969748","ensembl_id":"ENSG00000007174"}}},"hgnc_date_symbol_changed":"1997-02-05"},"entity_type":"gene","entity_name":"DNAH9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30471717","30471718"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Ciliary dyskinesia, primary, 40, MIM# 618300"],"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":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":5},"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":["ACAD5"],"biotype":"protein_coding","hgnc_id":"HGNC:4189","gene_name":"glutaryl-CoA dehydrogenase","omim_gene":["608801"],"alias_name":null,"gene_symbol":"GCDH","hgnc_symbol":"GCDH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:13001840-13025021","ensembl_id":"ENSG00000105607"}},"GRch38":{"90":{"location":"19:12891026-12914207","ensembl_id":"ENSG00000105607"}}},"hgnc_date_symbol_changed":"1992-12-17"},"entity_type":"gene","entity_name":"GCDH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31536184"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Glutaric aciduria, type I MIM#231670"],"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":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":5},"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":["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":["25542954","31898846","28605144","26284909","28475458"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Aicardi-Goutieres syndrome 7 MIM#615846","Singleton-Merten syndrome 1, MIM#\t182250"],"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":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":5},"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":["HSPC019","GL"],"biotype":"protein_coding","hgnc_id":"HGNC:21652","gene_name":"osteopetrosis associated transmembrane protein 1","omim_gene":["607649"],"alias_name":["CLCN7 accessory beta subunit"],"gene_symbol":"OSTM1","hgnc_symbol":"OSTM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:108362613-108487058","ensembl_id":"ENSG00000081087"}},"GRch38":{"90":{"location":"6:108041409-108165854","ensembl_id":"ENSG00000081087"}}},"hgnc_date_symbol_changed":"2003-10-06"},"entity_type":"gene","entity_name":"OSTM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12627228","15108279","16813530","23772242","32048120"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Osteopetrosis, autosomal recessive 5 (MIM#259720)"],"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":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":5},"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":["TDF"],"biotype":"protein_coding","hgnc_id":"HGNC:11311","gene_name":"sex determining region Y","omim_gene":["480000"],"alias_name":["testis-determining factor"],"gene_symbol":"SRY","hgnc_symbol":"SRY","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"Y:2654896-2655740","ensembl_id":"ENSG00000184895"}},"GRch38":{"90":{"location":"Y:2786855-2787699","ensembl_id":"ENSG00000184895"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"SRY","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["1570829","1734522","9143916","12764225"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["46XY sex reversal 1, OMIM #400044","46XX sex reversal 1, OMIM #400045"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":5},"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":["AT1","AT2R1","AGTR1A","AT2R1A","HAT1R","AG2S","AT2R1B","AT1B"],"biotype":"protein_coding","hgnc_id":"HGNC:336","gene_name":"angiotensin II receptor type 1","omim_gene":["106165"],"alias_name":null,"gene_symbol":"AGTR1","hgnc_symbol":"AGTR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:148415571-148460795","ensembl_id":"ENSG00000144891"}},"GRch38":{"90":{"location":"3:148697784-148743008","ensembl_id":"ENSG00000144891"}}},"hgnc_date_symbol_changed":"1992-08-25"},"entity_type":"gene","entity_name":"AGTR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["16116425"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Renal tubular dysgenesis, MIM# 267430"],"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":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":5},"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":["S7"],"biotype":"protein_coding","hgnc_id":"HGNC:10440","gene_name":"ribosomal protein S7","omim_gene":["603658"],"alias_name":null,"gene_symbol":"RPS7","hgnc_symbol":"RPS7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:3622795-3628509","ensembl_id":"ENSG00000171863"}},"GRch38":{"90":{"location":"2:3575205-3580919","ensembl_id":"ENSG00000171863"}}},"hgnc_date_symbol_changed":"1997-07-07"},"entity_type":"gene","entity_name":"RPS7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Diamond-Blackfan anemia 8, MIM# 612563","MONDO:0012939"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3829,"hash_id":null,"name":"IBMDx study","disease_group":"","disease_sub_group":"","description":"The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2,  BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.","status":"public","version":"0.42","version_created":"2026-03-19T18:45:41.236506+11:00","relevant_disorders":[],"stats":{"number_of_genes":101,"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":"Research","slug":"research","description":"Research panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FOR","WOX1","SDR41C1"],"biotype":"protein_coding","hgnc_id":"HGNC:12799","gene_name":"WW domain containing oxidoreductase","omim_gene":["605131"],"alias_name":["short chain dehydrogenase/reductase family 41C, member 1"],"gene_symbol":"WWOX","hgnc_symbol":"WWOX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:78133310-79246564","ensembl_id":"ENSG00000186153"}},"GRch38":{"90":{"location":"16:78099413-79212667","ensembl_id":"ENSG00000186153"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"WWOX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33916893"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322","Developmental and epileptic encephalopathy 28, MIM# 616211"],"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":["DENTS","XLRH","hClC-K2","hCIC-K2","CLC5","XRN","ClC-5"],"biotype":"protein_coding","hgnc_id":"HGNC:2023","gene_name":"chloride voltage-gated channel 5","omim_gene":["300008"],"alias_name":["Dent disease"],"gene_symbol":"CLCN5","hgnc_symbol":"CLCN5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:49687225-49863892","ensembl_id":"ENSG00000171365"}},"GRch38":{"90":{"location":"X:49922615-50099235","ensembl_id":"ENSG00000171365"}}},"hgnc_date_symbol_changed":"1994-01-28"},"entity_type":"gene","entity_name":"CLCN5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Dent disease, MIM#300009"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":"","publications":["3232707","22829427","31945625","28332470"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Cutis laxa, autosomal recessive, type IA, 219100 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SH3P9","AMPH2"],"biotype":"protein_coding","hgnc_id":"HGNC:1052","gene_name":"bridging integrator 1","omim_gene":["601248"],"alias_name":["amphiphysin II"],"gene_symbol":"BIN1","hgnc_symbol":"BIN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:127805603-127864931","ensembl_id":"ENSG00000136717"}},"GRch38":{"90":{"location":"2:127048027-127107355","ensembl_id":"ENSG00000136717"}}},"hgnc_date_symbol_changed":"2000-05-19"},"entity_type":"gene","entity_name":"BIN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17676042","20142620"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Centronuclear myopathy 2, MIM# 255200"],"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":["HDR"],"biotype":"protein_coding","hgnc_id":"HGNC:4172","gene_name":"GATA binding protein 3","omim_gene":["131320"],"alias_name":null,"gene_symbol":"GATA3","hgnc_symbol":"GATA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:8095567-8117161","ensembl_id":"ENSG00000107485"}},"GRch38":{"90":{"location":"10:8053604-8075198","ensembl_id":"ENSG00000107485"}}},"hgnc_date_symbol_changed":"1992-11-03"},"entity_type":"gene","entity_name":"GATA3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["10935639","11389161","21120445","26316437","25771973","27387476","30396722"],"evidence":["Expert Review Green","NHS GMS","Victorian Clinical Genetics Services"],"phenotypes":["Hypoparathyroidism-deafness-renal disease syndrome MONDO:0007797"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3894,"hash_id":null,"name":"Familial hypoparathyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Calcium disorders","description":"This panel contains genes associated with familial hypoparathyroidism. \r\n\r\nIt has been compared against the Genomics England PanelApp 'familial hypoparathyroidism' panel V3.1, with all discrepancies reviewed and resolved (August 2025).","status":"public","version":"1.13","version_created":"2026-01-29T12:46:06.444681+11:00","relevant_disorders":[],"stats":{"number_of_genes":8,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4908","gene_name":"3-hydroxyisobutyryl-CoA hydrolase","omim_gene":["610690"],"alias_name":null,"gene_symbol":"HIBCH","hgnc_symbol":"HIBCH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:191054461-191208919","ensembl_id":"ENSG00000198130"}},"GRch38":{"90":{"location":"2:190189735-190344193","ensembl_id":"ENSG00000198130"}}},"hgnc_date_symbol_changed":"1999-12-07"},"entity_type":"gene","entity_name":"HIBCH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29152456","26026795","25251209","24299452","32677093"],"evidence":["Expert Review Green","Literature","Victorian Clinical Genetics Services"],"phenotypes":["3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ11808","ORF19","DERP13"],"biotype":"protein_coding","hgnc_id":"HGNC:16001","gene_name":"succinyl-CoA:glutarate-CoA transferase","omim_gene":["609187"],"alias_name":["Russel-Silver syndrome candidate","dermal papilla derived protein 13"],"gene_symbol":"SUGCT","hgnc_symbol":"SUGCT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:40174575-40900362","ensembl_id":"ENSG00000175600"}},"GRch38":{"90":{"location":"7:40134977-40860763","ensembl_id":"ENSG00000175600"}}},"hgnc_date_symbol_changed":"2013-12-12"},"entity_type":"gene","entity_name":"SUGCT","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["18926513","28766179","29421601"],"evidence":["Expert Review Amber","ClinGen"],"phenotypes":["glutaric acidemia type 3 MONDO:0009283"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:32698","gene_name":"dual oxidase maturation factor 2","omim_gene":["612772"],"alias_name":null,"gene_symbol":"DUOXA2","hgnc_symbol":"DUOXA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:45406519-45410619","ensembl_id":"ENSG00000140274"}},"GRch38":{"90":{"location":"15:45114321-45118421","ensembl_id":"ENSG00000140274"}}},"hgnc_date_symbol_changed":"2006-07-25"},"entity_type":"gene","entity_name":"DUOXA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene"],"phenotypes":["Thyroid dyshormonogenesis 5, MIM# 274900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ORC1","D13S327"],"biotype":"protein_coding","hgnc_id":"HGNC:10985","gene_name":"solute carrier family 25 member 15","omim_gene":["603861"],"alias_name":["ornithine transporter 1"],"gene_symbol":"SLC25A15","hgnc_symbol":"SLC25A15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:41363548-41384247","ensembl_id":"ENSG00000102743"}},"GRch38":{"90":{"location":"13:40789412-40810111","ensembl_id":"ENSG00000102743"}}},"hgnc_date_symbol_changed":"1999-06-28"},"entity_type":"gene","entity_name":"SLC25A15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22649802"],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970"],"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":["VKCFD1"],"biotype":"protein_coding","hgnc_id":"HGNC:4247","gene_name":"gamma-glutamyl carboxylase","omim_gene":["137167"],"alias_name":["vitamin K-dependent gamma-carboxylase"],"gene_symbol":"GGCX","hgnc_symbol":"GGCX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:85771846-85788670","ensembl_id":"ENSG00000115486"}},"GRch38":{"90":{"location":"2:85544723-85561547","ensembl_id":"ENSG00000115486"}}},"hgnc_date_symbol_changed":"1994-07-04"},"entity_type":"gene","entity_name":"GGCX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28125048"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BRI","E25B","E3-16","BRICD2B","BRI2"],"biotype":"protein_coding","hgnc_id":"HGNC:6174","gene_name":"integral membrane protein 2B","omim_gene":["603904"],"alias_name":["BRICHOS domain containing 2B"],"gene_symbol":"ITM2B","hgnc_symbol":"ITM2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:48807294-48837063","ensembl_id":"ENSG00000136156"}},"GRch38":{"90":{"location":"13:48233158-48270357","ensembl_id":"ENSG00000136156"}}},"hgnc_date_symbol_changed":"1999-04-15"},"entity_type":"gene","entity_name":"ITM2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["10391242","10781099","20385796","33814452"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cerebral amyloid angiopathy MONDO:0005620"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3961,"hash_id":null,"name":"Cerebral amyloid angiopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains the genes that are associated with cerebral amyloid angiopathy.\r\n\r\nFor differential diagnoses, the early-onset dementia panel is more suitable.","status":"public","version":"1.1","version_created":"2022-11-22T17:58:32.163408+11:00","relevant_disorders":["Cerebral amyloid angiopathy","HP:0011970"],"stats":{"number_of_genes":7,"number_of_strs":0,"number_of_regions":0},"types":[{"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:5389","gene_name":"iduronate 2-sulfatase","omim_gene":["300823"],"alias_name":["Hunter syndrome"],"gene_symbol":"IDS","hgnc_symbol":"IDS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:148558521-148615470","ensembl_id":"ENSG00000010404"}},"GRch38":{"90":{"location":"X:149476990-149521096","ensembl_id":"ENSG00000010404"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"IDS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["20301451"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mucopolysaccharidosis type 2 MONDO:0010674"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":4093,"hash_id":null,"name":"Facial papules","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes associated with diseases where facial papules and lesions can be a predominant feature of the phenotype, including coarse facies. It was developed by Prof Ingrid Winship from Royal Melbourne Hospital for use in the Genodermatosis clinic.","status":"public","version":"1.1","version_created":"2026-01-12T09:37:15.457047+11:00","relevant_disorders":["Papule HP:0200034"],"stats":{"number_of_genes":22,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0243","LAM","hamartin"],"biotype":"protein_coding","hgnc_id":"HGNC:12362","gene_name":"TSC complex subunit 1","omim_gene":["605284"],"alias_name":["hamartin"],"gene_symbol":"TSC1","hgnc_symbol":"TSC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:135766735-135820020","ensembl_id":"ENSG00000165699"}},"GRch38":{"90":{"location":"9:132891348-132944633","ensembl_id":"ENSG00000165699"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"TSC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["20301399"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["tuberous sclerosis MONDO:0001734"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4093,"hash_id":null,"name":"Facial papules","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes associated with diseases where facial papules and lesions can be a predominant feature of the phenotype, including coarse facies. It was developed by Prof Ingrid Winship from Royal Melbourne Hospital for use in the Genodermatosis clinic.","status":"public","version":"1.1","version_created":"2026-01-12T09:37:15.457047+11:00","relevant_disorders":["Papule HP:0200034"],"stats":{"number_of_genes":22,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["T-plastin"],"biotype":"protein_coding","hgnc_id":"HGNC:9091","gene_name":"plastin 3","omim_gene":["300131"],"alias_name":null,"gene_symbol":"PLS3","hgnc_symbol":"PLS3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:114795501-114885181","ensembl_id":"ENSG00000102024"}},"GRch38":{"90":{"location":"X:115561174-115650861","ensembl_id":"ENSG00000102024"}}},"hgnc_date_symbol_changed":"1997-08-18"},"entity_type":"gene","entity_name":"PLS3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bone mineral density QTL18, osteoporosis"],"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":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DHPR","PKU2","SDR33C1"],"biotype":"protein_coding","hgnc_id":"HGNC:9752","gene_name":"quinoid dihydropteridine reductase","omim_gene":["612676"],"alias_name":["6,7-dihydropteridine reductase","short chain dehydrogenase/reductase family 33C, member 1"],"gene_symbol":"QDPR","hgnc_symbol":"QDPR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:17461884-17513857","ensembl_id":"ENSG00000151552"}},"GRch38":{"90":{"location":"4:17460261-17512234","ensembl_id":"ENSG00000151552"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"QDPR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11153907"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hyperphenylalaninaemia, BH4-deficient, C, MIM# 261630"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["parafibromin","FIHP"],"biotype":"protein_coding","hgnc_id":"HGNC:16783","gene_name":"cell division cycle 73","omim_gene":["607393"],"alias_name":["Paf1/RNA polymerase II complex component"],"gene_symbol":"CDC73","hgnc_symbol":"CDC73","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:193091147-193223031","ensembl_id":"ENSG00000134371"}},"GRch38":{"90":{"location":"1:193122017-193253901","ensembl_id":"ENSG00000134371"}}},"hgnc_date_symbol_changed":"2005-07-20"},"entity_type":"gene","entity_name":"CDC73","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Tumor of parathyroid gland, MONDO:0021360","Hyperparathyroidism 2 with jaw tumors, MONDO:0007768","Hyperparathyroidism-jaw tumor syndrome, MIM#145001","Hyperparathyroidism, familial primary, MIM#145000"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4363,"hash_id":null,"name":"Parathyroid Tumour","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with parathyroid tumour. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with parathyroid tumour and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.2","version_created":"2024-11-01T16:33:54.194345+11:00","relevant_disorders":[],"stats":{"number_of_genes":6,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RNF163","ZCCHC22","CNBP1"],"biotype":"protein_coding","hgnc_id":"HGNC:13164","gene_name":"CCHC-type zinc finger nucleic acid binding protein","omim_gene":["116955"],"alias_name":null,"gene_symbol":"CNBP","hgnc_symbol":"CNBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:128888327-128902765","ensembl_id":"ENSG00000169714"}},"GRch38":{"90":{"location":"3:129169484-129183922","ensembl_id":"ENSG00000169714"}}},"hgnc_date_symbol_changed":"2006-06-29"},"entity_type":"str","entity_name":"CNBP_DM2_CCTG","confidence_level":"3","penetrance":null,"publications":["20301639","11486088","37123986","34024776","29086017","28491317"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Myotonic dystrophy 2 MIM#602668"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CCTG","chromosome":"3","grch37_coordinates":[128891420,128891499],"grch38_coordinates":[129172577,129172656],"normal_repeats":26,"pathogenic_repeats":75,"tags":["adult-onset"],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":{"alias":["Cav2.1","EA2","APCA","HPCA","FHM"],"biotype":"protein_coding","hgnc_id":"HGNC:1388","gene_name":"calcium voltage-gated channel subunit alpha1 A","omim_gene":["601011"],"alias_name":null,"gene_symbol":"CACNA1A","hgnc_symbol":"CACNA1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:13317256-13734804","ensembl_id":"ENSG00000141837"}},"GRch38":{"90":{"location":"19:13206442-13633025","ensembl_id":"ENSG00000141837"}}},"hgnc_date_symbol_changed":"1996-06-18"},"entity_type":"str","entity_name":"CACNA1A_SCA6_CAG","confidence_level":"3","penetrance":null,"publications":["8988170","20301319","29325606"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Spinocerebellar ataxia 6 MIM#183086","Episodic ataxia, type 2 MIM#108500"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CAG","chromosome":"19","grch37_coordinates":[13318673,13318691],"grch38_coordinates":[13207859,13207897],"normal_repeats":18,"pathogenic_repeats":20,"tags":["adult-onset"],"panel":{"id":3597,"hash_id":null,"name":"Repeat Disorders","disease_group":"","disease_sub_group":"","description":"This panel contains reported short tandem repeat (STR) expansion disorders. The naming convention of the STRs is based on the name of the condition or fragile site that the expansion is associated with. \r\nThe panel was developed by RMH and WEHI, and is maintained by RMH.\r\n\r\nThis panel is used as a research panel by the Australian Genomics Acute Care study.","status":"public","version":"0.272","version_created":"2026-01-02T15:16:39.779953+11:00","relevant_disorders":[],"stats":{"number_of_genes":0,"number_of_strs":76,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]}}]}