{"count":36072,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=195","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=193","results":[{"gene_data":{"alias":["beta-4","CFEOM3","CFEOM3A"],"biotype":"protein_coding","hgnc_id":"HGNC:20772","gene_name":"tubulin beta 3 class III","omim_gene":["602661"],"alias_name":["class III beta-tubulin"],"gene_symbol":"TUBB3","hgnc_symbol":"TUBB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:89987800-90005169","ensembl_id":"ENSG00000258947"}},"GRch38":{"90":{"location":"16:89921392-89938761","ensembl_id":"ENSG00000258947"}}},"hgnc_date_symbol_changed":"2004-11-22"},"entity_type":"gene","entity_name":"TUBB3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20829227","25059107","33318778"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":["Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":18,"hash_id":null,"name":"Polymicrogyria and Schizencephaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and used by the Australian Genomics Brain Malformations Flagship. 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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":"2.55","version_created":"2026-04-17T16:01:21.596122+10:00","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":[]},{"gene_data":{"alias":["PKND"],"biotype":"protein_coding","hgnc_id":"HGNC:2536","gene_name":"cathepsin K","omim_gene":["601105"],"alias_name":null,"gene_symbol":"CTSK","hgnc_symbol":"CTSK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:150768684-150780799","ensembl_id":"ENSG00000143387"}},"GRch38":{"90":{"location":"1:150796208-150808323","ensembl_id":"ENSG00000143387"}}},"hgnc_date_symbol_changed":"1995-05-11"},"entity_type":"gene","entity_name":"CTSK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 33151655"],"evidence":["Expert Review Green","Expert list","Literature"],"phenotypes":["Pycnodysostosis - MIM#265800"],"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. 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Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:18708","gene_name":"glutamate receptor interacting protein 1","omim_gene":["604597"],"alias_name":null,"gene_symbol":"GRIP1","hgnc_symbol":"GRIP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:66741211-67197966","ensembl_id":"ENSG00000155974"}},"GRch38":{"90":{"location":"12:66347431-66804186","ensembl_id":"ENSG00000155974"}}},"hgnc_date_symbol_changed":"2002-05-29"},"entity_type":"gene","entity_name":"GRIP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24700879","24357607","22510445"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Fraser syndrome 3 MIM#617667","CAKUT"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":63,"hash_id":null,"name":"Congenital anomalies of the kidney and urinary tract (CAKUT)","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel contains genes associated with nonsyndromic and syndromic congenital anomalies of the kidney and urinary tract (CAKUT).","status":"public","version":"0.207","version_created":"2026-04-15T16:43:07.852176+10:00","relevant_disorders":["Abnormality of the urinary system HP:0000079"],"stats":{"number_of_genes":124,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["bA207C16.1"],"biotype":"protein_coding","hgnc_id":"HGNC:17686","gene_name":"RIC1 homolog, RAB6A GEF complex partner 1","omim_gene":["610354"],"alias_name":null,"gene_symbol":"RIC1","hgnc_symbol":"RIC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:5629025-5776557","ensembl_id":"ENSG00000107036"}},"GRch38":{"90":{"location":"9:5629025-5776557","ensembl_id":"ENSG00000107036"}}},"hgnc_date_symbol_changed":"2014-07-23"},"entity_type":"gene","entity_name":"RIC1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["27878435","31932796"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["CATIFA syndrome, MIM#\t618761"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. 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Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CRYPTIC"],"biotype":"protein_coding","hgnc_id":"HGNC:18292","gene_name":"cripto, FRL-1, cryptic family 1","omim_gene":["605194"],"alias_name":null,"gene_symbol":"CFC1","hgnc_symbol":"CFC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:131350339-131357123","ensembl_id":"ENSG00000136698"}},"GRch38":{"90":{"location":"2:130592168-130599575","ensembl_id":"ENSG00000136698"}}},"hgnc_date_symbol_changed":"2004-02-04"},"entity_type":"gene","entity_name":"CFC1","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["31633655","18162845","25423076","11062482"],"evidence":["Expert Review Green","Literature","Expert list"],"phenotypes":["Heterotaxy, visceral, 2, MIM# 605376"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":76,"hash_id":null,"name":"Congenital Heart Defect","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.","status":"public","version":"0.535","version_created":"2026-04-21T11:25:32.018166+10:00","relevant_disorders":["Abnormal heart morphology HP:0001627"],"stats":{"number_of_genes":254,"number_of_strs":1,"number_of_regions":10},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OF","BACH1","FANCJ"],"biotype":"protein_coding","hgnc_id":"HGNC:20473","gene_name":"BRCA1 interacting protein C-terminal helicase 1","omim_gene":["605882"],"alias_name":["BRCA1/BRCA2-associated helicase 1"],"gene_symbol":"BRIP1","hgnc_symbol":"BRIP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:59758627-59940882","ensembl_id":"ENSG00000136492"}},"GRch38":{"90":{"location":"17:61681266-61863521","ensembl_id":"ENSG00000136492"}}},"hgnc_date_symbol_changed":"2003-04-11"},"entity_type":"gene","entity_name":"BRIP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anemia, complementation group J, MIM# 609054"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":79,"hash_id":null,"name":"Chromosome Breakage Disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created and is maintained by VCGS.\r\n\r\nChromosomal instability syndromes are a group of inherited disorders associated with chromosomal instability and breakage either spontaneously or in response to DNA damaging agents. They include ataxia telangiectasia, Bloom syndrome, Fanconi anaemia, Nijmegen breakage syndrome, immunodeficiency/centromeric instability/facial anomalies syndrome, Cockayne syndrome, trichothiodystrophy, xeroderma pigmentosum, DNA ligase I deficiency, and DNA recombinase repair defects.\r\n\r\nTypical features include impairment of growth, immunodeficiency, predisposition to infectious disease, and the risk of developing certain types of malignancies.","status":"public","version":"1.24","version_created":"2025-10-16T15:58:38.818741+11:00","relevant_disorders":["Chromosome breakage HP:0040012"],"stats":{"number_of_genes":60,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP434H0115"],"biotype":"protein_coding","hgnc_id":"HGNC:25280","gene_name":"tetratricopeptide repeat domain 25","omim_gene":["617095"],"alias_name":null,"gene_symbol":"TTC25","hgnc_symbol":"TTC25","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40086888-40117648","ensembl_id":"ENSG00000204815"}},"GRch38":{"90":{"location":"17:41930635-41965651","ensembl_id":"ENSG00000204815"}}},"hgnc_date_symbol_changed":"2005-12-14"},"entity_type":"gene","entity_name":"TTC25","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27486780","31765523","33715250","33746037","34215651"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Ciliary dyskinesia, primary, 35 (MIM#617092)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":82,"hash_id":null,"name":"Ciliary Dyskinesia","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. 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It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.75","version_created":"2026-03-30T10:17:46.701193+11:00","relevant_disorders":["Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205"],"stats":{"number_of_genes":77,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hcp-1"],"biotype":"protein_coding","hgnc_id":"HGNC:1857","gene_name":"centromere protein F","omim_gene":["600236"],"alias_name":["mitosin"],"gene_symbol":"CENPF","hgnc_symbol":"CENPF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:214776538-214837931","ensembl_id":"ENSG00000117724"}},"GRch38":{"90":{"location":"1:214603195-214664588","ensembl_id":"ENSG00000117724"}}},"hgnc_date_symbol_changed":"1994-07-04"},"entity_type":"gene","entity_name":"CENPF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25564561","28407396","26820108"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Stromme syndrome (MIM#243605)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":84,"hash_id":null,"name":"Ciliopathies","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC33196","KIAA1336","IFT121","IFTA1"],"biotype":"protein_coding","hgnc_id":"HGNC:29250","gene_name":"WD repeat domain 35","omim_gene":["613602"],"alias_name":null,"gene_symbol":"WDR35","hgnc_symbol":"WDR35","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:20110021-20189892","ensembl_id":"ENSG00000118965"}},"GRch38":{"90":{"location":"2:19910260-19990131","ensembl_id":"ENSG00000118965"}}},"hgnc_date_symbol_changed":"2004-03-02"},"entity_type":"gene","entity_name":"WDR35","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["20817137","24123776"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cranioectodermal dysplasia 2, MIM# 613610"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":93,"hash_id":null,"name":"Craniosynostosis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH. It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.","status":"public","version":"1.85","version_created":"2026-04-07T13:46:55.940488+10:00","relevant_disorders":["Craniosynostosis HP:0001363"],"stats":{"number_of_genes":105,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RPL10","RPLY10","RPYL10","EC45","L15"],"biotype":"protein_coding","hgnc_id":"HGNC:10306","gene_name":"ribosomal protein L15","omim_gene":["604174"],"alias_name":null,"gene_symbol":"RPL15","hgnc_symbol":"RPL15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:23958036-23965183","ensembl_id":"ENSG00000174748"}},"GRch38":{"90":{"location":"3:23916545-23923692","ensembl_id":"ENSG00000174748"}}},"hgnc_date_symbol_changed":"1998-07-23"},"entity_type":"gene","entity_name":"RPL15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23812780","29599205"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Diamond-Blackfan anemia 12, MIM# 615550"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":98,"hash_id":null,"name":"Diamond Blackfan anaemia","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nDiamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. Main features are:\r\n-normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow\r\n-growth retardation\r\n-craniofacial, upper limb, heart, and urinary system congenital malformations.\r\n\r\nIncreased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F are typical; however, there is significant variability.\r\n\r\nDBA is caused by variants in the large and small ribosomal protein genes. Deletions are common, and may not be reported as part of some NGS assays.\r\n\r\nPlease also refer to the Bone Marrow Failure, Chromosome Breakage Disorders, and Bleeding and Platelet disorders panels if a broader differential diagnosis is being considered.","status":"public","version":"1.16","version_created":"2026-03-17T20:20:46.699102+11:00","relevant_disorders":["Anemia","HP:0001903; Abnormality of thumb morphology","HP:0001172"],"stats":{"number_of_genes":28,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11194","gene_name":"SRY-box 18","omim_gene":["601618"],"alias_name":null,"gene_symbol":"SOX18","hgnc_symbol":"SOX18","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:62679076-62680994","ensembl_id":"ENSG00000203883"}},"GRch38":{"90":{"location":"20:64047582-64049641","ensembl_id":"ENSG00000203883"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"SOX18","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["12740761","26631803"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hypotrichosis-lymphedema-telangiectasia syndrome, MIM#\t607823","Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM#\t137940"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ22501","BLOC2S3"],"biotype":"protein_coding","hgnc_id":"HGNC:18817","gene_name":"HPS6, biogenesis of lysosomal organelles complex 2 subunit 3","omim_gene":["607522"],"alias_name":null,"gene_symbol":"HPS6","hgnc_symbol":"HPS6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:103825147-103827792","ensembl_id":"ENSG00000166189"}},"GRch38":{"90":{"location":"10:102065390-102068038","ensembl_id":"ENSG00000166189"}}},"hgnc_date_symbol_changed":"2004-02-04"},"entity_type":"gene","entity_name":"HPS6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":123,"hash_id":null,"name":"Inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.126","version_created":"2025-10-16T15:50:33.114198+11:00","relevant_disorders":["Gastrointestinal inflammation","HP:0004386"],"stats":{"number_of_genes":85,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1577"],"biotype":"protein_coding","hgnc_id":"HGNC:29316","gene_name":"zinc finger SWIM-type containing 6","omim_gene":["615951"],"alias_name":null,"gene_symbol":"ZSWIM6","hgnc_symbol":"ZSWIM6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:60628100-60841997","ensembl_id":"ENSG00000130449"}},"GRch38":{"90":{"location":"5:61332273-61546170","ensembl_id":"ENSG00000130449"}}},"hgnc_date_symbol_changed":"2003-12-17"},"entity_type":"gene","entity_name":"ZSWIM6","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["25105228","28213462","29198722"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Acromelic frontonasal dysostosis (MIM#603671)","Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM#617865"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":129,"hash_id":null,"name":"Joubert syndrome and other neurological ciliopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes associated with Joubert syndrome, Meckel Gruber syndrome and other ciliopathies where structural CNS abnormalities are prominent.\r\n\r\nPlease consider also applying the Cerebellar and Pontocerebellar Hypoplasia panel in the presence of more non-specific cerebellar abnormalities and applying the Ciliopathy panel in the presence of additional clinical features suggestive of a multi-system ciliopathy.","status":"public","version":"1.33","version_created":"2025-12-16T12:55:34.757878+11:00","relevant_disorders":["Molar tooth sign on MRI","HP:0002419; Joubert syndrome","MONDO:0018772"],"stats":{"number_of_genes":69,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ36974","MGC42174"],"biotype":"protein_coding","hgnc_id":"HGNC:28648","gene_name":"DIS3 like 3'-5' exoribonuclease 2","omim_gene":["614184"],"alias_name":null,"gene_symbol":"DIS3L2","hgnc_symbol":"DIS3L2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:232825955-233209060","ensembl_id":"ENSG00000144535"}},"GRch38":{"90":{"location":"2:231961245-232344350","ensembl_id":"ENSG00000144535"}}},"hgnc_date_symbol_changed":"2007-01-17"},"entity_type":"gene","entity_name":"DIS3L2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["INPP5G","PARK20"],"biotype":"protein_coding","hgnc_id":"HGNC:11503","gene_name":"synaptojanin 1","omim_gene":["604297"],"alias_name":["phosphoinositide 5-phosphatase","synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1","inositol polyphosphate-5-phosphatase G"],"gene_symbol":"SYNJ1","hgnc_symbol":"SYNJ1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:34001069-34100359","ensembl_id":"ENSG00000159082"}},"GRch38":{"90":{"location":"21:32628759-32728048","ensembl_id":"ENSG00000159082"}}},"hgnc_date_symbol_changed":"1999-10-14"},"entity_type":"gene","entity_name":"SYNJ1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32435303","27435091","23804563","23804577","27496670","33841314"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Developmental and epileptic encephalopathy 53, MIM# 617389","Parkinson disease 20, early-onset, MIM# 615530"],"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":"1.4767","version_created":"2026-04-23T12:43:35.804016+10:00","relevant_disorders":[],"stats":{"number_of_genes":6015,"number_of_strs":43,"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":["CD71","TFR1","p90"],"biotype":"protein_coding","hgnc_id":"HGNC:11763","gene_name":"transferrin receptor","omim_gene":["190010"],"alias_name":null,"gene_symbol":"TFRC","hgnc_symbol":"TFRC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:195754054-195809060","ensembl_id":"ENSG00000072274"}},"GRch38":{"90":{"location":"3:196027183-196082189","ensembl_id":"ENSG00000072274"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"TFRC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26642240"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["TFRC-related combined immunodeficiency MONDO:0014760","Immunodeficiency 46, MIM# 616740","T cells: normal number, poor proliferation","B cells: normal number, low memory B cells","recurrent infections, neutorpaenia","thrombocytopaenia"],"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":"1.4767","version_created":"2026-04-23T12:43:35.804016+10:00","relevant_disorders":[],"stats":{"number_of_genes":6015,"number_of_strs":43,"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":["FLJ12716","gry","foigr"],"biotype":"protein_coding","hgnc_id":"HGNC:25751","gene_name":"trafficking protein particle complex 11","omim_gene":["614138"],"alias_name":["gryzun homolog (Drosophila)","foie gras homolog (zebrafish)"],"gene_symbol":"TRAPPC11","hgnc_symbol":"TRAPPC11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:184580420-184634745","ensembl_id":"ENSG00000168538"}},"GRch38":{"90":{"location":"4:183659267-183713594","ensembl_id":"ENSG00000168538"}}},"hgnc_date_symbol_changed":"2011-12-12"},"entity_type":"gene","entity_name":"TRAPPC11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23830518","26322222","29855340","30105108"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Muscular dystrophy, limb-girdle, autosomal recessive 18, MIM# 615356"],"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":"1.4767","version_created":"2026-04-23T12:43:35.804016+10:00","relevant_disorders":[],"stats":{"number_of_genes":6015,"number_of_strs":43,"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":["MCCB"],"biotype":"protein_coding","hgnc_id":"HGNC:6937","gene_name":"methylcrotonoyl-CoA carboxylase 2","omim_gene":["609014"],"alias_name":["methylcrotonoyl-CoA carboxylase beta"],"gene_symbol":"MCCC2","hgnc_symbol":"MCCC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:70883115-70954531","ensembl_id":"ENSG00000131844"}},"GRch38":{"90":{"location":"5:71587288-71658704","ensembl_id":"ENSG00000131844"}}},"hgnc_date_symbol_changed":"1992-12-07"},"entity_type":"gene","entity_name":"MCCC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308","11181649","31730530"],"evidence":["Expert Review Green","NHS GMS","Victorian Clinical Genetics Services"],"phenotypes":["3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210","Organic acidurias"],"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":"1.4767","version_created":"2026-04-23T12:43:35.804016+10:00","relevant_disorders":[],"stats":{"number_of_genes":6015,"number_of_strs":43,"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":["CD171"],"biotype":"protein_coding","hgnc_id":"HGNC:6470","gene_name":"L1 cell adhesion molecule","omim_gene":["308840"],"alias_name":["neural cell adhesion molecule L1"],"gene_symbol":"L1CAM","hgnc_symbol":"L1CAM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153126969-153174677","ensembl_id":"ENSG00000198910"}},"GRch38":{"90":{"location":"X:153861514-153909223","ensembl_id":"ENSG00000198910"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"L1CAM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11438988","7920660","8401593","19565280"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hydrocephalus due to aqueductal stenosis, MIM# 307000","MASA syndrome, MIM# 303350","L1 syndrome, MONDO:0017140","Corpus callosum, partial agenesis of, MIM# 304100"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":"1.4767","version_created":"2026-04-23T12:43:35.804016+10:00","relevant_disorders":[],"stats":{"number_of_genes":6015,"number_of_strs":43,"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":["DXS423E","KIAA0178","SB1.8","Smcb"],"biotype":"protein_coding","hgnc_id":"HGNC:11111","gene_name":"structural maintenance of chromosomes 1A","omim_gene":["300040"],"alias_name":null,"gene_symbol":"SMC1A","hgnc_symbol":"SMC1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:53401070-53449677","ensembl_id":"ENSG00000072501"}},"GRch38":{"90":{"location":"X:53374149-53422728","ensembl_id":"ENSG00000072501"}}},"hgnc_date_symbol_changed":"2006-07-06"},"entity_type":"gene","entity_name":"SMC1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17273969","22106055","19701948","26752331","28166369","29023665","31409060","31334757"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cornelia de Lange syndrome 2, MIM# 300590","Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4767","version_created":"2026-04-23T12:43:35.804016+10:00","relevant_disorders":[],"stats":{"number_of_genes":6015,"number_of_strs":43,"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":["CD246"],"biotype":"protein_coding","hgnc_id":"HGNC:427","gene_name":"ALK receptor tyrosine kinase","omim_gene":["105590"],"alias_name":null,"gene_symbol":"ALK","hgnc_symbol":"ALK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:29415640-30144432","ensembl_id":"ENSG00000171094"}},"GRch38":{"90":{"location":"2:29192774-29921566","ensembl_id":"ENSG00000171094"}}},"hgnc_date_symbol_changed":"1993-08-24"},"entity_type":"gene","entity_name":"ALK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32989326","18724359"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["{Neuroblastoma, susceptibility to, 3} 613014","Spastic-dystonic diplegia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4767","version_created":"2026-04-23T12:43:35.804016+10:00","relevant_disorders":[],"stats":{"number_of_genes":6015,"number_of_strs":43,"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":["KIAA0594"],"biotype":"protein_coding","hgnc_id":"HGNC:20465","gene_name":"structural maintenance of chromosomes 5","omim_gene":["609386"],"alias_name":null,"gene_symbol":"SMC5","hgnc_symbol":"SMC5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:72873937-72969804","ensembl_id":"ENSG00000198887"}},"GRch38":{"90":{"location":"9:70258962-70354888","ensembl_id":"ENSG00000198887"}}},"hgnc_date_symbol_changed":"2006-07-06"},"entity_type":"gene","entity_name":"SMC5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36333305"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Atelis syndrome 2, MIM# 620185"],"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":["ZNF925"],"biotype":"protein_coding","hgnc_id":"HGNC:32550","gene_name":"zinc finger and BTB domain containing 42","omim_gene":["613915"],"alias_name":null,"gene_symbol":"ZBTB42","hgnc_symbol":"ZBTB42","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:105266933-105271049","ensembl_id":"ENSG00000179627"}},"GRch38":{"90":{"location":"14:104800596-104804712","ensembl_id":"ENSG00000179627"}}},"hgnc_date_symbol_changed":"2006-03-15"},"entity_type":"gene","entity_name":"ZBTB42","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["25055871"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Lethal congenital contracture syndrome 6, MIM#\t616248"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":139,"hash_id":null,"name":"Multiple pterygium syndrome_Fetal akinesia sequence","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains genes associated with severe perinatal disorders presenting with joint contractures, webbing and reduced fetal movements in particular those associated with:\r\n-fetal akinesia deformation sequence (FADS);\r\n-multiple pterygium syndromes;\r\n-lethal congenital contractures syndromes.\r\n\r\nPlease also consider a broader range of neurological conditions covered by the Congenital Myasthenia, Myopathy - paediatric onset, Arthrogryposis and Neuropathy panels, as well as the Intellectual disability panel.","status":"public","version":"1.11","version_created":"2026-02-25T14:53:33.284450+11:00","relevant_disorders":["Pterygium","HP:0001059; Akinesia","HP:0002304; Fetal akinesia sequence","HP:0001989"],"stats":{"number_of_genes":28,"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":[]},{"gene_data":{"alias":["HNT"],"biotype":"protein_coding","hgnc_id":"HGNC:10449","gene_name":"ras responsive element binding protein 1","omim_gene":["602209"],"alias_name":["hindsight homolog (drosophila)"],"gene_symbol":"RREB1","hgnc_symbol":"RREB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:7107830-7252213","ensembl_id":"ENSG00000124782"}},"GRch38":{"90":{"location":"6:7107597-7251980","ensembl_id":"ENSG00000124782"}}},"hgnc_date_symbol_changed":"1997-08-18"},"entity_type":"gene","entity_name":"RREB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32938917","38332451","40418122"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Rasopathy, MONDO:0021060, RREB1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV"],"panel":{"id":164,"hash_id":null,"name":"Rasopathy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the ClinGen Rasopathy Working Group gene-disease validity assessments (PMID: 30311384) and against the Genomics England PanelApp Rasopathies panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"0.113","version_created":"2026-01-26T17:08:48.260163+11:00","relevant_disorders":["Rasopathy","MONDO:0021060"],"stats":{"number_of_genes":32,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CD227","PEM","ADMCKD","ADMCKD1","MCKD","MCD"],"biotype":"protein_coding","hgnc_id":"HGNC:7508","gene_name":"mucin 1, cell surface associated","omim_gene":["158340"],"alias_name":null,"gene_symbol":"MUC1","hgnc_symbol":"MUC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:155158300-155162707","ensembl_id":"ENSG00000185499"}},"GRch38":{"90":{"location":"1:155185824-155192916","ensembl_id":"ENSG00000185499"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"MUC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23396133"],"evidence":["Expert Review Green","KidGen_Tubulointerstitial v38.1.0"],"phenotypes":["Medullary cystic kidney disease 1, MIM# 174000"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":199,"hash_id":null,"name":"Renal Tubulointerstitial Disease","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed and is maintained by the KidGen Collaborative. It is a consensus panel used by VCGS and RMH.","status":"public","version":"1.7","version_created":"2025-10-30T15:54:47.234241+11:00","relevant_disorders":["Abnormal tubulointerstitial morphology","HP:0001969"],"stats":{"number_of_genes":8,"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":["LGMD2M"],"biotype":"protein_coding","hgnc_id":"HGNC:3622","gene_name":"fukutin","omim_gene":["607440"],"alias_name":null,"gene_symbol":"FKTN","hgnc_symbol":"FKTN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:108320411-108403399","ensembl_id":"ENSG00000106692"}},"GRch38":{"90":{"location":"9:105558130-105641118","ensembl_id":"ENSG00000106692"}}},"hgnc_date_symbol_changed":"2007-11-21"},"entity_type":"gene","entity_name":"FKTN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9690476","19017726","20301385","28680109"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Muscular dystrophy-dystroglycanopathy MONDO:0018276"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","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":["E3BP","proX","PDX1","OPDX","DLDBP"],"biotype":"protein_coding","hgnc_id":"HGNC:21350","gene_name":"pyruvate dehydrogenase complex component X","omim_gene":["608769"],"alias_name":null,"gene_symbol":"PDHX","hgnc_symbol":"PDHX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:34937376-35042138","ensembl_id":"ENSG00000110435"}},"GRch38":{"90":{"location":"11:34915829-35020591","ensembl_id":"ENSG00000110435"}}},"hgnc_date_symbol_changed":"2003-06-24"},"entity_type":"gene","entity_name":"PDHX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20002125","34873726","33092611","30981218","25087164","22766002"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Lactic acidaemia due to PDX1 deficiency MIM#245349"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","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":["SCO1L"],"biotype":"protein_coding","hgnc_id":"HGNC:10604","gene_name":"SCO2, cytochrome c oxidase assembly protein","omim_gene":["604272"],"alias_name":null,"gene_symbol":"SCO2","hgnc_symbol":"SCO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:50961997-50964868","ensembl_id":"ENSG00000130489"}},"GRch38":{"90":{"location":"22:50523568-50525606","ensembl_id":"ENSG00000130489"}}},"hgnc_date_symbol_changed":"1999-10-12"},"entity_type":"gene","entity_name":"SCO2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","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":["HCDH1","CDH1","HCDH","FZR","FZR2","KIAA1242","CDC20C"],"biotype":"protein_coding","hgnc_id":"HGNC:24824","gene_name":"fizzy and cell division cycle 20 related 1","omim_gene":["603619"],"alias_name":["CDC20 homolog 1"],"gene_symbol":"FZR1","hgnc_symbol":"FZR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:3506271-3538328","ensembl_id":"ENSG00000105325"}},"GRch38":{"90":{"location":"19:3506273-3538330","ensembl_id":"ENSG00000105325"}}},"hgnc_date_symbol_changed":"2004-03-31"},"entity_type":"gene","entity_name":"FZR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34788397"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 109, MIM# 620145"],"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":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","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 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Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"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":["gs114","KIAA0590"],"biotype":"protein_coding","hgnc_id":"HGNC:29077","gene_name":"intraflagellar transport 140","omim_gene":["614620"],"alias_name":null,"gene_symbol":"IFT140","hgnc_symbol":"IFT140","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:1560428-1662111","ensembl_id":"ENSG00000187535"}},"GRch38":{"90":{"location":"16:1510427-1612110","ensembl_id":"ENSG00000187535"}}},"hgnc_date_symbol_changed":"2005-11-02"},"entity_type":"gene","entity_name":"IFT140","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","NHS GMS","Victorian Clinical Genetics Services"],"phenotypes":["Short-rib thoracic dysplasia 9 with of without polydactyly, 266920"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.431","version_created":"2026-04-22T15:50:41.067259+10:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLVCR","MFSD7B","PCA"],"biotype":"protein_coding","hgnc_id":"HGNC:24682","gene_name":"feline leukemia virus subgroup C cellular receptor 1","omim_gene":["609144"],"alias_name":null,"gene_symbol":"FLVCR1","hgnc_symbol":"FLVCR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:213031597-213072705","ensembl_id":"ENSG00000162769"}},"GRch38":{"90":{"location":"1:212858255-212899363","ensembl_id":"ENSG00000162769"}}},"hgnc_date_symbol_changed":"2007-05-01"},"entity_type":"gene","entity_name":"FLVCR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Ataxia, posterior column, with retinitis pigmentosa, 609033"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":277,"hash_id":null,"name":"Retinitis pigmentosa","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.","status":"public","version":"0.245","version_created":"2026-03-28T13:33:23.781842+11:00","relevant_disorders":["Abnormal retinal morphology","HP:0000479"],"stats":{"number_of_genes":159,"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":["NY-CO-10","SDCCAG-10"],"biotype":"protein_coding","hgnc_id":"HGNC:10664","gene_name":"CWC27 spliceosome associated protein homolog","omim_gene":["617170"],"alias_name":null,"gene_symbol":"CWC27","hgnc_symbol":"CWC27","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:64064757-64314590","ensembl_id":"ENSG00000153015"}},"GRch38":{"90":{"location":"5:64768930-65018763","ensembl_id":"ENSG00000153015"}}},"hgnc_date_symbol_changed":"2010-01-26"},"entity_type":"gene","entity_name":"CWC27","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Retinitis pigmentosa with or without skeletal anomalies, 250410"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":277,"hash_id":null,"name":"Retinitis pigmentosa","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.","status":"public","version":"0.245","version_created":"2026-03-28T13:33:23.781842+11:00","relevant_disorders":["Abnormal retinal morphology","HP:0000479"],"stats":{"number_of_genes":159,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10808","gene_name":"sarcoglycan epsilon","omim_gene":["604149"],"alias_name":null,"gene_symbol":"SGCE","hgnc_symbol":"SGCE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:94214542-94285521","ensembl_id":"ENSG00000127990"}},"GRch38":{"90":{"location":"7:94585230-94656209","ensembl_id":"ENSG00000127990"}}},"hgnc_date_symbol_changed":"1999-01-11"},"entity_type":"gene","entity_name":"SGCE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11528394","12821748","16227522"],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green"],"phenotypes":["Dystonia-11, myoclonic, MIM# 159900","MONDO:0008044"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["trnD"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7478","gene_name":"mitochondrially encoded tRNA aspartic acid","omim_gene":["590015"],"alias_name":null,"gene_symbol":"MT-TD","hgnc_symbol":"MT-TD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:7518-7585","ensembl_id":"ENSG00000210154"}},"GRch38":{"90":{"location":"MT:7518-7585","ensembl_id":"ENSG00000210154"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["9811342","10488907","16059939","18676632","23696415","25447692","27536005","30030363","3054486","19535463"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TD-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":3084,"hash_id":null,"name":"Rhabdomyolysis and Metabolic Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nDepending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.46","version_created":"2026-03-31T19:05:14.301918+11:00","relevant_disorders":["Rhabdomyolysis","HP:0003201;Exercise intolerance","HP:0003546;Metabolic myopathy","MONDO:0020123"],"stats":{"number_of_genes":124,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ20695"],"biotype":"protein_coding","hgnc_id":"HGNC:22965","gene_name":"peroxisomal biogenesis factor 26","omim_gene":["608666"],"alias_name":null,"gene_symbol":"PEX26","hgnc_symbol":"PEX26","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:18560689-18613905","ensembl_id":"ENSG00000215193"}},"GRch38":{"90":{"location":"22:18077920-18131138","ensembl_id":"ENSG00000215193"}}},"hgnc_date_symbol_changed":"2003-08-05"},"entity_type":"gene","entity_name":"PEX26","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28944237","33926089","28944237"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Heimler syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3086,"hash_id":null,"name":"Usher Syndrome","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed by RMH, and is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Deafness_IsolatedAndComplex and Retinal Disorders panels if findings are not specific, and a wider differential is considered, including the possibility of dual diagnosis.","status":"public","version":"1.5","version_created":"2023-01-15T18:08:18.097118+11:00","relevant_disorders":["Usher syndrome","MONDO:0019501"],"stats":{"number_of_genes":20,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TJ6","a2","TJ6s","TJ6M","ATP6a2","J6B7","ATP6N1D","Vph1","Stv1"],"biotype":"protein_coding","hgnc_id":"HGNC:18481","gene_name":"ATPase H+ transporting V0 subunit a2","omim_gene":["611716"],"alias_name":["infantile malignant osteopetrosis"],"gene_symbol":"ATP6V0A2","hgnc_symbol":"ATP6V0A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:124196865-124246302","ensembl_id":"ENSG00000185344"}},"GRch38":{"90":{"location":"12:123712318-123761755","ensembl_id":"ENSG00000185344"}}},"hgnc_date_symbol_changed":"2002-05-09"},"entity_type":"gene","entity_name":"ATP6V0A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23963297"],"evidence":["Expert Review Green","Literature","GeneReviews"],"phenotypes":["Cutis laxa, autosomal recessive, type IIA MIM#219200","Wrinkly skin syndrome MIM#278250"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3129,"hash_id":null,"name":"Cutis Laxa","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where cutis laxa is a prominent feature of the condition. This panel is maintained by RMH.","status":"public","version":"1.0","version_created":"2022-10-16T18:04:47.521878+11:00","relevant_disorders":["Cutis laxa HP:0000973"],"stats":{"number_of_genes":15,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CARD2","K8","CK8","CYK8","K2C8","KO"],"biotype":"protein_coding","hgnc_id":"HGNC:6446","gene_name":"keratin 8","omim_gene":["148060"],"alias_name":null,"gene_symbol":"KRT8","hgnc_symbol":"KRT8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:53290977-53343738","ensembl_id":"ENSG00000170421"}},"GRch38":{"90":{"location":"12:52897187-52949954","ensembl_id":"ENSG00000170421"}}},"hgnc_date_symbol_changed":"1988-08-12"},"entity_type":"gene","entity_name":"KRT8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["15235035","11372009","12724528"],"evidence":["Expert Review Red","Mackenzie's Mission"],"phenotypes":["CIRRHOSIS, FAMILIAL, MIM #215600"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["TrpRS"],"biotype":"protein_coding","hgnc_id":"HGNC:12730","gene_name":"tryptophanyl tRNA synthetase 2, mitochondrial","omim_gene":["604733"],"alias_name":["tryptophan tRNA ligase 2, mitochondrial"],"gene_symbol":"WARS2","hgnc_symbol":"WARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:119573839-119683294","ensembl_id":"ENSG00000116874"}},"GRch38":{"90":{"location":"1:119031216-119140671","ensembl_id":"ENSG00000116874"}}},"hgnc_date_symbol_changed":"1999-06-11"},"entity_type":"gene","entity_name":"WARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (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. 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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":[],"biotype":"protein_coding","hgnc_id":"HGNC:493","gene_name":"ankyrin 2","omim_gene":["106410"],"alias_name":null,"gene_symbol":"ANK2","hgnc_symbol":"ANK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:113739265-114304896","ensembl_id":"ENSG00000145362"}},"GRch38":{"90":{"location":"4:112818109-113383740","ensembl_id":"ENSG00000145362"}}},"hgnc_date_symbol_changed":"1991-06-04"},"entity_type":"gene","entity_name":"ANK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category B gene"],"phenotypes":["Complex neurodevelopmental disorder, MONDO:0100038"],"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. 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These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3146","gene_name":"endothelin converting enzyme 1","omim_gene":["600423"],"alias_name":null,"gene_symbol":"ECE1","hgnc_symbol":"ECE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:21543740-21671997","ensembl_id":"ENSG00000117298"}},"GRch38":{"90":{"location":"1:21217247-21345504","ensembl_id":"ENSG00000117298"}}},"hgnc_date_symbol_changed":"1995-12-08"},"entity_type":"gene","entity_name":"ECE1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Hirschsprung disease"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. 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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":["HsORC4","Orc4p"],"biotype":"protein_coding","hgnc_id":"HGNC:8490","gene_name":"origin recognition complex subunit 4","omim_gene":["603056"],"alias_name":null,"gene_symbol":"ORC4","hgnc_symbol":"ORC4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:148687968-148779147","ensembl_id":"ENSG00000115947"}},"GRch38":{"90":{"location":"2:147930397-148021604","ensembl_id":"ENSG00000115947"}}},"hgnc_date_symbol_changed":"2010-10-12"},"entity_type":"gene","entity_name":"ORC4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Meier-Gorlin syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP586B0923","TTC20","KBP"],"biotype":"protein_coding","hgnc_id":"HGNC:23419","gene_name":"KIF1 binding protein","omim_gene":["609367"],"alias_name":["kinesin binding protein"],"gene_symbol":"KIF1BP","hgnc_symbol":"KIF1BP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:70748487-70776738","ensembl_id":"ENSG00000198954"}},"GRch38":{"90":{"location":"10:68988721-69043544","ensembl_id":"ENSG00000198954"}}},"hgnc_date_symbol_changed":"2015-03-27"},"entity_type":"gene","entity_name":"KIF1BP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16760737","7338549"],"evidence":["Expert Review Green"],"phenotypes":["GOSHS","Goldberg-Shprintzen megacolon syndrome, 609460"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNF55","c-Cbl"],"biotype":"protein_coding","hgnc_id":"HGNC:1541","gene_name":"Cbl proto-oncogene","omim_gene":["165360"],"alias_name":["oncogene CBL2"],"gene_symbol":"CBL","hgnc_symbol":"CBL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:119076752-119178859","ensembl_id":"ENSG00000110395"}},"GRch38":{"90":{"location":"11:119206276-119313926","ensembl_id":"ENSG00000110395"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"CBL","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":["20619386","20543203","19571318"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563","CBL-related disorder, MONDO:0013308"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.103","version_created":"2026-04-22T15:49:55.410983+10:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"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."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["B37"],"biotype":"protein_coding","hgnc_id":"HGNC:3033","gene_name":"atrophin 1","omim_gene":["607462"],"alias_name":null,"gene_symbol":"ATN1","hgnc_symbol":"ATN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:7033626-7051484","ensembl_id":"ENSG00000111676"}},"GRch38":{"90":{"location":"12:6924463-6942321","ensembl_id":"ENSG00000111676"}}},"hgnc_date_symbol_changed":"2005-03-17"},"entity_type":"gene","entity_name":"ATN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34212383","30827498"],"evidence":["Expert Review Green","Expert list","Literature"],"phenotypes":["Congenital hypotonia, epilepsy, developmental delay, and digital anomalies - MIM#618494"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LGN","Pins"],"biotype":"protein_coding","hgnc_id":"HGNC:29501","gene_name":"G protein signaling modulator 2","omim_gene":["609245"],"alias_name":null,"gene_symbol":"GPSM2","hgnc_symbol":"GPSM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:109417972-109477167","ensembl_id":"ENSG00000121957"}},"GRch38":{"90":{"location":"1:108875350-108934545","ensembl_id":"ENSG00000121957"}}},"hgnc_date_symbol_changed":"2004-02-03"},"entity_type":"gene","entity_name":"GPSM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20602914","22578326","28387217","27180139","27064331"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Chudley-McCullough syndrome, MIM# 604213"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8855","gene_name":"peroxisomal biogenesis factor 13","omim_gene":["601789"],"alias_name":null,"gene_symbol":"PEX13","hgnc_symbol":"PEX13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:61244360-61279125","ensembl_id":"ENSG00000162928"}},"GRch38":{"90":{"location":"2:61017225-61051990","ensembl_id":"ENSG00000162928"}}},"hgnc_date_symbol_changed":"1997-06-24"},"entity_type":"gene","entity_name":"PEX13","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21031596","19449432"],"evidence":["Expert Review Green","Genomics England PanelApp","Literature"],"phenotypes":["Peroxisome biogenesis disorder 11A (Zellweger), MIM# 614883"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9498","gene_name":"prosaposin","omim_gene":["176801"],"alias_name":["variant Gaucher disease and variant metachromatic leukodystrophy"],"gene_symbol":"PSAP","hgnc_symbol":"PSAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:73576055-73611126","ensembl_id":"ENSG00000197746"}},"GRch38":{"90":{"location":"10:71816298-71851375","ensembl_id":"ENSG00000197746"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PSAP","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Combined SAP deficiency, MIM# 611721"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HAP","NR1B2","RRB2"],"biotype":"protein_coding","hgnc_id":"HGNC:9865","gene_name":"retinoic acid receptor beta","omim_gene":["180220"],"alias_name":null,"gene_symbol":"RARB","hgnc_symbol":"RARB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:25215823-25639423","ensembl_id":"ENSG00000077092"}},"GRch38":{"90":{"location":"3:25174332-25597932","ensembl_id":"ENSG00000077092"}}},"hgnc_date_symbol_changed":"1989-05-16"},"entity_type":"gene","entity_name":"RARB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24075189","22686418"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Microphthalmia, syndromic 12, MIM# 615524"],"mode_of_inheritance":"BOTH monoallelic and 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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KCS1","pac2"],"biotype":"protein_coding","hgnc_id":"HGNC:11582","gene_name":"tubulin folding cofactor E","omim_gene":["604934"],"alias_name":null,"gene_symbol":"TBCE","hgnc_symbol":"TBCE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:235530675-235612283","ensembl_id":"ENSG00000116957"}},"GRch38":{"90":{"location":"1:235367360-235448968","ensembl_id":"ENSG00000116957"}}},"hgnc_date_symbol_changed":"1998-07-31"},"entity_type":"gene","entity_name":"TBCE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12389028","27666369"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410","Kenny-Caffey syndrome, type 1, OMIM #244460","Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM #617207"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HCA127"],"biotype":"protein_coding","hgnc_id":"HGNC:24931","gene_name":"zinc finger C4H2-type containing","omim_gene":["300897"],"alias_name":null,"gene_symbol":"ZC4H2","hgnc_symbol":"ZC4H2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:64136250-64254593","ensembl_id":"ENSG00000126970"}},"GRch38":{"90":{"location":"X:64915802-65034713","ensembl_id":"ENSG00000126970"}}},"hgnc_date_symbol_changed":"2008-10-01"},"entity_type":"gene","entity_name":"ZC4H2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30712880","23623388","31885220","23623388","34322088","33949289","31885220","31206972"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Wieacker-Wolff syndrome, OMIM#314580","Wieacker-Wolff syndrome, female-restricted, OMIM#301041"],"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":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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CL-L1"],"biotype":"protein_coding","hgnc_id":"HGNC:2220","gene_name":"collectin subfamily member 10","omim_gene":["607620"],"alias_name":null,"gene_symbol":"COLEC10","hgnc_symbol":"COLEC10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:120007691-120118821","ensembl_id":"ENSG00000184374"}},"GRch38":{"90":{"location":"8:118995452-119106582","ensembl_id":"ENSG00000184374"}}},"hgnc_date_symbol_changed":"2000-04-11"},"entity_type":"gene","entity_name":"COLEC10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28301481","34740859"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["3MC syndrome 3, MONDO:0009554","3MC syndrome 3, OMIM:248340"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0293","CDP2"],"biotype":"protein_coding","hgnc_id":"HGNC:19347","gene_name":"cut like homeobox 2","omim_gene":["610648"],"alias_name":null,"gene_symbol":"CUX2","hgnc_symbol":"CUX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:111471828-111788358","ensembl_id":"ENSG00000111249"}},"GRch38":{"90":{"location":"12:111034024-111350554","ensembl_id":"ENSG00000111249"}}},"hgnc_date_symbol_changed":"2007-11-07"},"entity_type":"gene","entity_name":"CUX2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29630738","29795476"],"evidence":["Expert Review Red","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Epileptic encephalopathy, early infantile, 67, MIM#618141"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CHAK1","LTRPC7","TRP-PLIK"],"biotype":"protein_coding","hgnc_id":"HGNC:17994","gene_name":"transient receptor potential cation channel subfamily M member 7","omim_gene":["605692"],"alias_name":null,"gene_symbol":"TRPM7","hgnc_symbol":"TRPM7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:50844670-50979012","ensembl_id":"ENSG00000092439"}},"GRch38":{"90":{"location":"15:50552473-50686815","ensembl_id":"ENSG00000092439"}}},"hgnc_date_symbol_changed":"2002-01-11"},"entity_type":"gene","entity_name":"TRPM7","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["32503408","31423533"],"evidence":["Expert Review Amber","Genomics England PanelApp"],"phenotypes":["Cardiac arrhythmia, stillbirth"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10335","FAAP43","Pog"],"biotype":"protein_coding","hgnc_id":"HGNC:20748","gene_name":"Fanconi anemia complementation group L","omim_gene":["608111"],"alias_name":null,"gene_symbol":"FANCL","hgnc_symbol":"FANCL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:58386378-58468507","ensembl_id":"ENSG00000115392"}},"GRch38":{"90":{"location":"2:58159243-58241372","ensembl_id":"ENSG00000115392"}}},"hgnc_date_symbol_changed":"2003-10-15"},"entity_type":"gene","entity_name":"FANCL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anemia, complementation group L, MIM# 614083","MONDO:0013566"],"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":["TRK","TRKA","MTC"],"biotype":"protein_coding","hgnc_id":"HGNC:8031","gene_name":"neurotrophic receptor tyrosine kinase 1","omim_gene":["191315"],"alias_name":["high affinity nerve growth factor receptor"],"gene_symbol":"NTRK1","hgnc_symbol":"NTRK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:156785432-156851642","ensembl_id":"ENSG00000198400"}},"GRch38":{"90":{"location":"1:156815640-156881850","ensembl_id":"ENSG00000198400"}}},"hgnc_date_symbol_changed":"1991-07-18"},"entity_type":"gene","entity_name":"NTRK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10233776","19250380","10861667","10982191","20301726","20089052"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Insensitivity to pain, congenital, with anhidrosis MIM#256800"],"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":["ARSACS","KIAA0730","DKFZp686B15167","DNAJC29","SPAX6","PPP1R138"],"biotype":"protein_coding","hgnc_id":"HGNC:10519","gene_name":"sacsin molecular chaperone","omim_gene":["604490"],"alias_name":["protein phosphatase 1, regulatory subunit 138"],"gene_symbol":"SACS","hgnc_symbol":"SACS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:23902965-24007841","ensembl_id":"ENSG00000151835"}},"GRch38":{"90":{"location":"13:23328826-23411513","ensembl_id":"ENSG00000151835"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"SACS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10655055","14718706","12873855"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Spastic ataxia, Charlevoix-Saguenay type, MIM#270550"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["SV/CNV"],"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":["PISSLRE"],"biotype":"protein_coding","hgnc_id":"HGNC:1770","gene_name":"cyclin dependent kinase 10","omim_gene":["603464"],"alias_name":null,"gene_symbol":"CDK10","hgnc_symbol":"CDK10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:89747145-89762772","ensembl_id":"ENSG00000185324"}},"GRch38":{"90":{"location":"16:89680737-89696364","ensembl_id":"ENSG00000185324"}}},"hgnc_date_symbol_changed":"1998-11-30"},"entity_type":"gene","entity_name":"CDK10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28886341","29130579","34974531"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Al Kaissi syndrome, 617694 (3), Autosomal recessive"],"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":["FI","C3b-INA","KAF"],"biotype":"protein_coding","hgnc_id":"HGNC:5394","gene_name":"complement factor I","omim_gene":["217030"],"alias_name":["Konglutinogen-activating factor","C3b-inactivator"],"gene_symbol":"CFI","hgnc_symbol":"CFI","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:110661852-110723335","ensembl_id":"ENSG00000205403"}},"GRch38":{"90":{"location":"4:109740694-109802179","ensembl_id":"ENSG00000205403"}}},"hgnc_date_symbol_changed":"2006-02-10"},"entity_type":"gene","entity_name":"CFI","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28942469"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Complement factor I deficiency, MIM#610984"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:11067","gene_name":"solute carrier family 7 member 9","omim_gene":["604144"],"alias_name":null,"gene_symbol":"SLC7A9","hgnc_symbol":"SLC7A9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:33321415-33360672","ensembl_id":"ENSG00000021488"}},"GRch38":{"90":{"location":"19:32830509-32869766","ensembl_id":"ENSG00000021488"}}},"hgnc_date_symbol_changed":"1999-09-16"},"entity_type":"gene","entity_name":"SLC7A9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23532419","16609684","25296721","11157794","10471498"],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["cystinuria MONDO:0009067"],"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":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["30451971","21880868"],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700","Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662","Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459","Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450","Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OI4"],"biotype":"protein_coding","hgnc_id":"HGNC:2197","gene_name":"collagen type I alpha 1 chain","omim_gene":["120150"],"alias_name":null,"gene_symbol":"COL1A1","hgnc_symbol":"COL1A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:48260650-48278993","ensembl_id":"ENSG00000108821"}},"GRch38":{"90":{"location":"17:50183289-50201632","ensembl_id":"ENSG00000108821"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL1A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene","BabySeq Category A gene"],"phenotypes":["Osteogenesis imperfecta, type I, MIM#166200"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","skeletal"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PSK-J3"],"biotype":"protein_coding","hgnc_id":"HGNC:1773","gene_name":"cyclin dependent kinase 4","omim_gene":["123829"],"alias_name":null,"gene_symbol":"CDK4","hgnc_symbol":"CDK4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:58141510-58149796","ensembl_id":"ENSG00000135446"}},"GRch38":{"90":{"location":"12:57747727-57756013","ensembl_id":"ENSG00000135446"}}},"hgnc_date_symbol_changed":"1993-07-28"},"entity_type":"gene","entity_name":"CDK4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","SA Pathology"],"phenotypes":["Melanoma, cutaneous malignant, MIM#609408"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P2Y12","SP1999","HORK3"],"biotype":"protein_coding","hgnc_id":"HGNC:18124","gene_name":"purinergic receptor P2Y12","omim_gene":["600515"],"alias_name":null,"gene_symbol":"P2RY12","hgnc_symbol":"P2RY12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:151055168-151102600","ensembl_id":"ENSG00000169313"}},"GRch38":{"90":{"location":"3:151337380-151384812","ensembl_id":"ENSG00000169313"}}},"hgnc_date_symbol_changed":"2002-12-10"},"entity_type":"gene","entity_name":"P2RY12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29117459","11196645","12578987","19237732"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["MONDO:0012354","Bleeding disorder, platelet-type, 8, MIM# 609821"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["PTPS"],"biotype":"protein_coding","hgnc_id":"HGNC:9689","gene_name":"6-pyruvoyltetrahydropterin synthase","omim_gene":["612719"],"alias_name":null,"gene_symbol":"PTS","hgnc_symbol":"PTS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:112097088-112140678","ensembl_id":"ENSG00000150787"}},"GRch38":{"90":{"location":"11:112226365-112269955","ensembl_id":"ENSG00000150787"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"PTS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["36583021","36212127","19830588","22237589"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640","BH4-deficient hyperphenylalaninemia A, MONDO:0009863"],"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":["MPS1"],"biotype":"protein_coding","hgnc_id":"HGNC:5391","gene_name":"iduronidase, alpha-L-","omim_gene":["252800"],"alias_name":null,"gene_symbol":"IDUA","hgnc_symbol":"IDUA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:980785-998316","ensembl_id":"ENSG00000127415"}},"GRch38":{"90":{"location":"4:986997-1004506","ensembl_id":"ENSG00000127415"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"IDUA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Mucopolysaccharidosis Ih, MIM#607014"],"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":["PFP","P1","HPLH2"],"biotype":"protein_coding","hgnc_id":"HGNC:9360","gene_name":"perforin 1","omim_gene":["170280"],"alias_name":["Perforin","perforin 1 (preforming protein)"],"gene_symbol":"PRF1","hgnc_symbol":"PRF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:72357104-72362531","ensembl_id":"ENSG00000180644"}},"GRch38":{"90":{"location":"10:70597348-70602775","ensembl_id":"ENSG00000180644"}}},"hgnc_date_symbol_changed":"1989-02-23"},"entity_type":"gene","entity_name":"PRF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19595804","26199792","30070073","19487666","26184781","10583959","19487666"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Haemophagocytic lymphohistiocytosis, familial, 2 MIM#603553"],"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":["OGC"],"biotype":"protein_coding","hgnc_id":"HGNC:10981","gene_name":"solute carrier family 25 member 11","omim_gene":["604165"],"alias_name":null,"gene_symbol":"SLC25A11","hgnc_symbol":"SLC25A11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:4840425-4843546","ensembl_id":"ENSG00000108528"}},"GRch38":{"90":{"location":"17:4937130-4940251","ensembl_id":"ENSG00000108528"}}},"hgnc_date_symbol_changed":"1998-09-18"},"entity_type":"gene","entity_name":"SLC25A11","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 29431636"],"evidence":["Expert Review Red","Literature","Expert Review","Expert list"],"phenotypes":["Paragangliomas 6, MONDO:0032767","Pheochromocytoma, MONDO:0008233","Hereditary pheochromocytoma-paraganglioma, MONDO:0017366","Pheochromocytoma/paraganglioma syndrome 6, MIM#618464"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4365,"hash_id":null,"name":"Paraganglioma_phaeochromocytoma","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with paraganglioma and phaeochromocytoma. \r\n\r\nFurther information on the testing criteria for paraganglioma and phaeochromocytoma can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3601-paraganglioma-phaeochromocytoma-panel-testi\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 paraganglioma and phaeochromocytoma 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":"2026-01-12T09:39:17.151164+11:00","relevant_disorders":[],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FTZ1","SF-1","ELP","AD4BP","hSF-1"],"biotype":"protein_coding","hgnc_id":"HGNC:7983","gene_name":"nuclear receptor subfamily 5 group A member 1","omim_gene":["184757"],"alias_name":["steroidogenic factor 1"],"gene_symbol":"NR5A1","hgnc_symbol":"NR5A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:127243516-127269709","ensembl_id":"ENSG00000136931"}},"GRch38":{"90":{"location":"9:124481236-124507430","ensembl_id":"ENSG00000136931"}}},"hgnc_date_symbol_changed":"1994-06-07"},"entity_type":"gene","entity_name":"NR5A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["20887963","19246354","37409232"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Premature ovarian failure 7, MIM #612964","Spermatogenic failure 8, # 613957"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.148","version_created":"2026-04-21T17:36:51.081048+10:00","relevant_disorders":[],"stats":{"number_of_genes":266,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null}]}