{"count":36056,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=204","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=202","results":[{"gene_data":{"alias":["PCDGF","PGRN","CLN11"],"biotype":"protein_coding","hgnc_id":"HGNC:4601","gene_name":"granulin precursor","omim_gene":["138945"],"alias_name":["progranulin"],"gene_symbol":"GRN","hgnc_symbol":"GRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42422614-42430470","ensembl_id":"ENSG00000030582"}},"GRch38":{"90":{"location":"17:44345086-44353102","ensembl_id":"ENSG00000030582"}}},"hgnc_date_symbol_changed":"1992-11-30"},"entity_type":"gene","entity_name":"GRN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["18184915","23596077"],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":25,"hash_id":null,"name":"Motor Neurone Disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"1.48","version_created":"2026-03-31T16:37:58.241144+11:00","relevant_disorders":[],"stats":{"number_of_genes":79,"number_of_strs":4,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SHIP2"],"biotype":"protein_coding","hgnc_id":"HGNC:6080","gene_name":"inositol polyphosphate phosphatase like 1","omim_gene":["600829"],"alias_name":["51C protein","SH2 domain-containing inositol 5'-phosphatase 2","phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2"],"gene_symbol":"INPPL1","hgnc_symbol":"INPPL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:71934745-71950149","ensembl_id":"ENSG00000165458"}},"GRch38":{"90":{"location":"11:72223701-72239105","ensembl_id":"ENSG00000165458"}}},"hgnc_date_symbol_changed":"1995-05-12"},"entity_type":"gene","entity_name":"INPPL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Melbourne Genomics Health Alliance Perinatal Autopsy Flagship"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":28,"hash_id":null,"name":"Skeletal Dysplasia_Fetal","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.","status":"public","version":"0.246","version_created":"2026-03-02T10:22:48.751874+11:00","relevant_disorders":[],"stats":{"number_of_genes":157,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CMD1R"],"biotype":"protein_coding","hgnc_id":"HGNC:143","gene_name":"actin, alpha, cardiac muscle 1","omim_gene":["102540"],"alias_name":null,"gene_symbol":"ACTC1","hgnc_symbol":"ACTC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:35080297-35088340","ensembl_id":"ENSG00000159251"}},"GRch38":{"90":{"location":"15:34788096-34796139","ensembl_id":"ENSG00000159251"}}},"hgnc_date_symbol_changed":"2006-08-24"},"entity_type":"gene","entity_name":"ACTC1","confidence_level":"3","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":["PMID: 36945405"],"evidence":["Expert Review Green","Literature"],"phenotypes":["MONDO:0019942 ACTC1 related distal arthrogrypsis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11773","gene_name":"transforming growth factor beta receptor 2","omim_gene":["190182"],"alias_name":null,"gene_symbol":"TGFBR2","hgnc_symbol":"TGFBR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:30647994-30735634","ensembl_id":"ENSG00000163513"}},"GRch38":{"90":{"location":"3:30606502-30694142","ensembl_id":"ENSG00000163513"}}},"hgnc_date_symbol_changed":"1993-09-30"},"entity_type":"gene","entity_name":"TGFBR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Loeys-Dietz syndrome 2, MIM# 610168"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":54,"hash_id":null,"name":"Bleeding and Platelet Disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with coagulation, platelet and blood vessel disorders that predispose to bleeding and to thrombosis.","status":"public","version":"1.77","version_created":"2026-04-08T12:32:35.286494+10:00","relevant_disorders":["Abnormal bleeding","HP:0001892;Abnormal thrombosis","HP:0001977"],"stats":{"number_of_genes":140,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TYKi","UMP-CMPK2","NDK"],"biotype":"protein_coding","hgnc_id":"HGNC:27015","gene_name":"cytidine/uridine monophosphate kinase 2","omim_gene":["611787"],"alias_name":["cytidylate kinase 2","UMP/CMP kinase","nucleoside-diphosphate kinase"],"gene_symbol":"CMPK2","hgnc_symbol":"CMPK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:6980701-7006766","ensembl_id":"ENSG00000134326"}},"GRch38":{"90":{"location":"2:6840570-6866635","ensembl_id":"ENSG00000134326"}}},"hgnc_date_symbol_changed":"2008-01-25"},"entity_type":"gene","entity_name":"CMPK2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["36443312"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":58,"hash_id":null,"name":"Brain Calcification","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Primary brain calcification disorders are characterised by abnormal deposits of calcium in blood vessels within the brain, particularly the basal ganglia. They typically present with movement disorders and psychiatric or behavioural problems. This panel also contains other multi-system conditions where brain calcification can occur as part of the phenotype.\r\n\r\nThis panel was developed and is maintained by VCGS.\r\n\r\nThe panel has been compared against the Genomics England PanelApp Intracerebral Calcifications panel V1.27 with all discrepancies resolved and reciprocal feedback provided to Genomics England.\r\n\r\nUpdated December 2025 following literature review.","status":"public","version":"2.6","version_created":"2026-01-08T18:01:53.861975+11:00","relevant_disorders":["Cerebral calcification","HP:0002514"],"stats":{"number_of_genes":96,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC35130"],"biotype":"protein_coding","hgnc_id":"HGNC:28559","gene_name":"ubiquitin conjugating enzyme E2 U (putative)","omim_gene":null,"alias_name":null,"gene_symbol":"UBE2U","hgnc_symbol":"UBE2U","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:64669310-64733051","ensembl_id":"ENSG00000177414"}},"GRch38":{"90":{"location":"1:64203627-64267368","ensembl_id":"ENSG00000177414"}}},"hgnc_date_symbol_changed":"2005-03-21"},"entity_type":"gene","entity_name":"UBE2U","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["PMID: 33776059"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Retinoschisis","cataracts","learning disabilities","developmental delay"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["trnH"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7487","gene_name":"mitochondrially encoded tRNA histidine","omim_gene":["590040"],"alias_name":null,"gene_symbol":"MT-TH","hgnc_symbol":"MT-TH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:12138-12206","ensembl_id":"ENSG00000210176"}},"GRch38":{"90":{"location":"MT:12138-12206","ensembl_id":"ENSG00000210176"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["12682337","14967777","15111688","21704194","21931169","23696415","35092007","24920829","21704194"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TH-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ39408"],"biotype":"protein_coding","hgnc_id":"HGNC:29500","gene_name":"fucokinase","omim_gene":["608675"],"alias_name":["L-fucose kinase"],"gene_symbol":"FUK","hgnc_symbol":"FUK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:70488324-70514177","ensembl_id":"ENSG00000157353"}},"GRch38":{"90":{"location":"16:70454421-70480274","ensembl_id":"ENSG00000157353"}}},"hgnc_date_symbol_changed":"2004-01-30"},"entity_type":"gene","entity_name":"FUK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30503518","35718084","36426412"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Congenital disorder of glycosylation with defective fucosylation 2, MIM#\t618324"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":68,"hash_id":null,"name":"Congenital Disorders of Glycosylation","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital Disorders of Glycosylation' panel v2.4 with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.85","version_created":"2026-04-02T10:46:27.496905+11:00","relevant_disorders":["Abnormal transferrin saturation","HP:0040135"],"stats":{"number_of_genes":141,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["beta4Gal-T1"],"biotype":"protein_coding","hgnc_id":"HGNC:924","gene_name":"beta-1,4-galactosyltransferase 1","omim_gene":["137060"],"alias_name":null,"gene_symbol":"B4GALT1","hgnc_symbol":"B4GALT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:33104080-33167354","ensembl_id":"ENSG00000086062"}},"GRch38":{"90":{"location":"9:33104082-33167356","ensembl_id":"ENSG00000086062"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"B4GALT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":68,"hash_id":null,"name":"Congenital Disorders of Glycosylation","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital Disorders of Glycosylation' panel v2.4 with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.85","version_created":"2026-04-02T10:46:27.496905+11:00","relevant_disorders":["Abnormal transferrin saturation","HP:0040135"],"stats":{"number_of_genes":141,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CARP"],"biotype":"protein_coding","hgnc_id":"HGNC:1382","gene_name":"carbonic anhydrase 8","omim_gene":["114815"],"alias_name":null,"gene_symbol":"CA8","hgnc_symbol":"CA8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:61099906-61193971","ensembl_id":"ENSG00000178538"}},"GRch38":{"90":{"location":"8:60187347-60281412","ensembl_id":"ENSG00000178538"}}},"hgnc_date_symbol_changed":"1993-07-08"},"entity_type":"gene","entity_name":"CA8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31693170","19461874","23087022"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":72,"hash_id":null,"name":"Cerebellar and Pontocerebellar Hypoplasia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the panels used by VCGS and RMH and is a consensus panel maintained by both.","status":"public","version":"1.100","version_created":"2026-04-02T11:42:58.167964+11:00","relevant_disorders":["Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879"],"stats":{"number_of_genes":122,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AK"],"biotype":"protein_coding","hgnc_id":"HGNC:257","gene_name":"adenosine kinase","omim_gene":["102750"],"alias_name":["adenosine 5'-phosphotransferase"],"gene_symbol":"ADK","hgnc_symbol":"ADK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:75910960-76469061","ensembl_id":"ENSG00000156110"}},"GRch38":{"90":{"location":"10:74151185-74709303","ensembl_id":"ENSG00000156110"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ADK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21963049","17120046","33309011"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":78,"hash_id":null,"name":"Cholestasis","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS.\r\n\r\nIt includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause cholestasis.\r\n\r\nPlease also consider using the Liver Failure_Paediatric panel if clinically indicated.\r\n\r\nThe content of this panel has been compared against the Genomics England PanelApp 'Cholestasis' panel V1.21, with all discrepancies reviewed and resolved, and reciprocal feedback provided to Genomics England.","status":"public","version":"1.10","version_created":"2026-03-26T17:26:27.105917+11:00","relevant_disorders":["Cholestasis HP:0001396"],"stats":{"number_of_genes":99,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20345","POC12","BBS13"],"biotype":"protein_coding","hgnc_id":"HGNC:7121","gene_name":"Meckel syndrome, type 1","omim_gene":["609883"],"alias_name":["POC12 centriolar protein homolog (Chlamydomonas)"],"gene_symbol":"MKS1","hgnc_symbol":"MKS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:56282803-56296966","ensembl_id":"ENSG00000011143"}},"GRch38":{"90":{"location":"17:58205437-58219605","ensembl_id":"ENSG00000011143"}}},"hgnc_date_symbol_changed":"1995-11-07"},"entity_type":"gene","entity_name":"MKS1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Meckel syndrome 1, MIM# 249000"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":78,"hash_id":null,"name":"Cholestasis","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS.\r\n\r\nIt includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause cholestasis.\r\n\r\nPlease also consider using the Liver Failure_Paediatric panel if clinically indicated.\r\n\r\nThe content of this panel has been compared against the Genomics England PanelApp 'Cholestasis' panel V1.21, with all discrepancies reviewed and resolved, and reciprocal feedback provided to Genomics England.","status":"public","version":"1.10","version_created":"2026-03-26T17:26:27.105917+11:00","relevant_disorders":["Cholestasis HP:0001396"],"stats":{"number_of_genes":99,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1350"],"biotype":"protein_coding","hgnc_id":"HGNC:29255","gene_name":"ubiquitin specific peptidase 53","omim_gene":["617431"],"alias_name":null,"gene_symbol":"USP53","hgnc_symbol":"USP53","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:120133742-120216672","ensembl_id":"ENSG00000145390"}},"GRch38":{"90":{"location":"4:119212587-119295517","ensembl_id":"ENSG00000145390"}}},"hgnc_date_symbol_changed":"2004-01-28"},"entity_type":"gene","entity_name":"USP53","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30250217","32124521","33075013"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":78,"hash_id":null,"name":"Cholestasis","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS.\r\n\r\nIt includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause cholestasis.\r\n\r\nPlease also consider using the Liver Failure_Paediatric panel if clinically indicated.\r\n\r\nThe content of this panel has been compared against the Genomics England PanelApp 'Cholestasis' panel V1.21, with all discrepancies reviewed and resolved, and reciprocal feedback provided to Genomics England.","status":"public","version":"1.10","version_created":"2026-03-26T17:26:27.105917+11:00","relevant_disorders":["Cholestasis HP:0001396"],"stats":{"number_of_genes":99,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0760","OAZ","Roaz","Ebfaz","Zfp104","NPHP14","JBTS19"],"biotype":"protein_coding","hgnc_id":"HGNC:16762","gene_name":"zinc finger protein 423","omim_gene":["604557"],"alias_name":["OLF-1/EBF associated zinc finger gene"," Smad- and Olf-interacting zinc finger protein","early B-cell factor associated zinc finger protein"],"gene_symbol":"ZNF423","hgnc_symbol":"ZNF423","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:49521435-49891830","ensembl_id":"ENSG00000102935"}},"GRch38":{"90":{"location":"16:49487524-49857919","ensembl_id":"ENSG00000102935"}}},"hgnc_date_symbol_changed":"2004-04-06"},"entity_type":"gene","entity_name":"ZNF423","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["22863007"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 19, OMIM# 614844","Nephronophthisis 14, OMIM:614844"],"mode_of_inheritance":"BOTH monoallelic and 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":["NY-CO-8","CCCAP","SLSN7","NPHP10","BBS16"],"biotype":"protein_coding","hgnc_id":"HGNC:10671","gene_name":"serologically defined colon cancer antigen 8","omim_gene":["613524"],"alias_name":["centrosomal colon cancer autoantigen protein","Bardet-Biedl syndrome 16","nephrocystin 10","Senior-Loken syndrome 7"],"gene_symbol":"SDCCAG8","hgnc_symbol":"SDCCAG8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:243419320-243663394","ensembl_id":"ENSG00000054282"}},"GRch38":{"90":{"location":"1:243256034-243500092","ensembl_id":"ENSG00000054282"}}},"hgnc_date_symbol_changed":"1999-08-25"},"entity_type":"gene","entity_name":"SDCCAG8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20835237","22626039","22626039","32432520","31534065","26968886"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Bardet-Biedl syndrome 16, MIM# 615993","MONDO:0014444","Senior-Loken syndrome 7, MIM# 613615","MONDO:0013326","Nephronophthisis"],"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":["THIL"],"biotype":"protein_coding","hgnc_id":"HGNC:93","gene_name":"acetyl-CoA acetyltransferase 1","omim_gene":["607809"],"alias_name":["acetoacetyl Coenzyme A thiolase"],"gene_symbol":"ACAT1","hgnc_symbol":"ACAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:107992243-108018503","ensembl_id":"ENSG00000075239"}},"GRch38":{"90":{"location":"11:108121516-108147776","ensembl_id":"ENSG00000075239"}}},"hgnc_date_symbol_changed":"1991-08-12"},"entity_type":"gene","entity_name":"ACAT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["17236799","1715688"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Alpha-methylacetoacetic aciduria, MIM#203750","Deficiency of acetyl-CoA acetyltransferase","Beta-ketothiolase deficiency MONDO:0008760"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":103,"hash_id":null,"name":"Fatty Acid Oxidation Defects","disease_group":"Metabolic disorders","disease_sub_group":"","description":"Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism caused by disruption of either mitochondrial β-oxidation or the fatty acid transport using the carnitine transport pathway. The clinical presentation of a FAOD depends on the specific disorder, but commonly includes cardiomyopathy in the newborn period, liver dysfunction and hypoketotic hypoglycaemia during infancy and childhood, and episodic rhabdomyolysis during or after adolescence.\r\n\r\nThis panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt incorporates assessments by the ClinGen Fatty Acid Oxidation Disorders Working Group, McGlaughon et al 2019, PMID: 31399326.","status":"public","version":"1.15","version_created":"2025-11-20T16:48:15.748218+11:00","relevant_disorders":["Abnormal circulating fatty acid concentration","HP:0004359; Rhabdomyolysis","HP:0003201; Hypoglycaemia","HP:0001943"],"stats":{"number_of_genes":33,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SUFUH","SUFUXL","PRO1280"],"biotype":"protein_coding","hgnc_id":"HGNC:16466","gene_name":"SUFU negative regulator of hedgehog signaling","omim_gene":["607035"],"alias_name":null,"gene_symbol":"SUFU","hgnc_symbol":"SUFU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:104263744-104393292","ensembl_id":"ENSG00000107882"}},"GRch38":{"90":{"location":"10:102503987-102633535","ensembl_id":"ENSG00000107882"}}},"hgnc_date_symbol_changed":"2001-08-28"},"entity_type":"gene","entity_name":"SUFU","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":115,"hash_id":null,"name":"Hydrocephalus_Ventriculomegaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.","status":"public","version":"0.134","version_created":"2026-01-28T12:49:29.963583+11:00","relevant_disorders":["Hydrocephalus","HP:0000238; Ventriculomegaly","HP:0002119"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:719","gene_name":"arylsulfatase E (chondrodysplasia punctata 1)","omim_gene":["300180"],"alias_name":null,"gene_symbol":"ARSE","hgnc_symbol":"ARSE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:2852699-2886286","ensembl_id":"ENSG00000157399"}},"GRch38":{"90":{"location":"X:2934632-2968310","ensembl_id":"ENSG00000157399"}}},"hgnc_date_symbol_changed":"1995-04-26"},"entity_type":"gene","entity_name":"ARSE","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Chondrodysplasia punctata, X-linked recessive, MIM#\t302950"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["EIF2gamma","EIF2"],"biotype":"protein_coding","hgnc_id":"HGNC:3267","gene_name":"eukaryotic translation initiation factor 2 subunit gamma","omim_gene":["300161"],"alias_name":["eukaryotic translation initiation factor 2G"],"gene_symbol":"EIF2S3","hgnc_symbol":"EIF2S3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:24072833-24096088","ensembl_id":"ENSG00000130741"}},"GRch38":{"90":{"location":"X:24054716-24077971","ensembl_id":"ENSG00000130741"}}},"hgnc_date_symbol_changed":"1994-09-06"},"entity_type":"gene","entity_name":"EIF2S3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["30878599"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["MEHMO syndrome, MIM# 300148"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":118,"hash_id":null,"name":"Hyperinsulinism","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS and RMH.\r\n\r\nThis panel contains genes associated with hyperinsulinism (non-syndromic and syndromic). \r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital hyperinsulinism' panel V3.5, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nFor severe, persistent hypoglycaemia, consider also applying the Metabolic Disorders Superpanel, or more specifically, the Glycogen Storage Diseases and Fatty Acid Oxidation Defects panels.\r\n\r\nIf features of the following diagnoses, request alternate genetic test listed:\r\na) Beckwith-Wiedeman syndrome - request BWS methylation studies\r\nb) Congenital central hypoventilation syndrome - request PHOX2B poly-A expansion repeat testing","status":"public","version":"1.51","version_created":"2026-03-09T16:58:00.909830+11:00","relevant_disorders":["Hyperinsulinaemia","HP:0000842;Hypoglycemia","HP:0001943"],"stats":{"number_of_genes":35,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12637","gene_name":"lysine demethylase 6A","omim_gene":["300128"],"alias_name":null,"gene_symbol":"KDM6A","hgnc_symbol":"KDM6A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:44732757-44971847","ensembl_id":"ENSG00000147050"}},"GRch38":{"90":{"location":"X:44873177-45112602","ensembl_id":"ENSG00000147050"}}},"hgnc_date_symbol_changed":"2009-04-17"},"entity_type":"gene","entity_name":"KDM6A","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":120,"hash_id":null,"name":"Hypertrichosis syndromes","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.48","version_created":"2026-01-14T13:37:51.409228+11:00","relevant_disorders":["Hypertrichosis","HP:0000998"],"stats":{"number_of_genes":29,"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":["BLOC3S1"],"biotype":"protein_coding","hgnc_id":"HGNC:5163","gene_name":"HPS1, biogenesis of lysosomal organelles complex 3 subunit 1","omim_gene":["604982"],"alias_name":null,"gene_symbol":"HPS1","hgnc_symbol":"HPS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:100175955-100206684","ensembl_id":"ENSG00000107521"}},"GRch38":{"90":{"location":"10:98416198-98446947","ensembl_id":"ENSG00000107521"}}},"hgnc_date_symbol_changed":"2002-05-01"},"entity_type":"gene","entity_name":"HPS1","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":["CD25"],"biotype":"protein_coding","hgnc_id":"HGNC:6008","gene_name":"interleukin 2 receptor subunit alpha","omim_gene":["147730"],"alias_name":null,"gene_symbol":"IL2RA","hgnc_symbol":"IL2RA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:6052652-6104288","ensembl_id":"ENSG00000134460"}},"GRch38":{"90":{"location":"10:6010689-6062325","ensembl_id":"ENSG00000134460"}}},"hgnc_date_symbol_changed":"1990-01-22"},"entity_type":"gene","entity_name":"IL2RA","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":["HIL-10R","CDW210A","CD210a","CD210"],"biotype":"protein_coding","hgnc_id":"HGNC:5964","gene_name":"interleukin 10 receptor subunit alpha","omim_gene":["146933"],"alias_name":null,"gene_symbol":"IL10RA","hgnc_symbol":"IL10RA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:117857063-117872196","ensembl_id":"ENSG00000110324"}},"GRch38":{"90":{"location":"11:117986348-118003037","ensembl_id":"ENSG00000110324"}}},"hgnc_date_symbol_changed":"1994-05-12"},"entity_type":"gene","entity_name":"IL10RA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19890111","21519361","22476154"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["ASRG"],"biotype":"protein_coding","hgnc_id":"HGNC:318","gene_name":"aspartylglucosaminidase","omim_gene":["613228"],"alias_name":["glycosylasparaginase","N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"],"gene_symbol":"AGA","hgnc_symbol":"AGA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:178351924-178363657","ensembl_id":"ENSG00000038002"}},"GRch38":{"90":{"location":"4:177430770-177442503","ensembl_id":"ENSG00000038002"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"AGA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["1703489","1904874","8064811","8946839"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Aspartylglucosaminuria, MIM# 208400","MONDO:0008830"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["ASP","APG5","hAPG5"],"biotype":"protein_coding","hgnc_id":"HGNC:589","gene_name":"autophagy related 5","omim_gene":["604261"],"alias_name":null,"gene_symbol":"ATG5","hgnc_symbol":"ATG5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:106632351-106773666","ensembl_id":"ENSG00000057663"}},"GRch38":{"90":{"location":"6:106045423-106325791","ensembl_id":"ENSG00000057663"}}},"hgnc_date_symbol_changed":"2005-09-11"},"entity_type":"gene","entity_name":"ATG5","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["16625204","26812546"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 25 MIM#617584"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":[]},{"gene_data":{"alias":["RHOGDI"],"biotype":"protein_coding","hgnc_id":"HGNC:678","gene_name":"Rho GDP dissociation inhibitor alpha","omim_gene":["601925"],"alias_name":null,"gene_symbol":"ARHGDIA","hgnc_symbol":"ARHGDIA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:79825597-79829282","ensembl_id":"ENSG00000141522"}},"GRch38":{"90":{"location":"17:81867721-81871406","ensembl_id":"ENSG00000141522"}}},"hgnc_date_symbol_changed":"1996-04-30"},"entity_type":"gene","entity_name":"ARHGDIA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["PMID: 23867502","35060086"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Nephrotic syndrome, type 8 MIM#615244"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["CCN6"],"biotype":"protein_coding","hgnc_id":"HGNC:12771","gene_name":"WNT1 inducible signaling pathway protein 3","omim_gene":["603400"],"alias_name":null,"gene_symbol":"WISP3","hgnc_symbol":"WISP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:112375275-112392171","ensembl_id":"ENSG00000112761"}},"GRch38":{"90":{"location":"6:112054072-112070969","ensembl_id":"ENSG00000112761"}}},"hgnc_date_symbol_changed":"1999-01-22"},"entity_type":"gene","entity_name":"WISP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10471507"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Arthropathy, progressive pseudorheumatoid, of childhood, MIM# 208230","Spondyloepiphyseal dysplasia tarda with progressive arthropathy, MIM# 208230"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["GALNAC-4-ST1"],"biotype":"protein_coding","hgnc_id":"HGNC:15993","gene_name":"carbohydrate sulfotransferase 8","omim_gene":["610190"],"alias_name":null,"gene_symbol":"CHST8","hgnc_symbol":"CHST8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:34112861-34264414","ensembl_id":"ENSG00000124302"}},"GRch38":{"90":{"location":"19:33621955-33773509","ensembl_id":"ENSG00000124302"}}},"hgnc_date_symbol_changed":"2001-06-27"},"entity_type":"gene","entity_name":"CHST8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22289416","28204496"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Peeling skin syndrome, MONDO:0019347, CHST8-realted"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["KIAA0338","4.1N"],"biotype":"protein_coding","hgnc_id":"HGNC:3378","gene_name":"erythrocyte membrane protein band 4.1 like 1","omim_gene":["602879"],"alias_name":null,"gene_symbol":"EPB41L1","hgnc_symbol":"EPB41L1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:34679426-34820721","ensembl_id":"ENSG00000088367"}},"GRch38":{"90":{"location":"20:36091504-36232799","ensembl_id":"ENSG00000088367"}}},"hgnc_date_symbol_changed":"1997-11-27"},"entity_type":"gene","entity_name":"EPB41L1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21376300","26539891","25961944"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Mental retardation, autosomal dominant 11, MIM# 614257"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["GDH"],"biotype":"protein_coding","hgnc_id":"HGNC:4335","gene_name":"glutamate dehydrogenase 1","omim_gene":["138130"],"alias_name":null,"gene_symbol":"GLUD1","hgnc_symbol":"GLUD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:88810243-88854623","ensembl_id":"ENSG00000148672"}},"GRch38":{"90":{"location":"10:87050486-87094866","ensembl_id":"ENSG00000148672"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GLUD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11214910","11297618"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hyperinsulinism-hyperammonemia syndrome, MIM# 606762"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["KIAA1301","NEDL2"],"biotype":"protein_coding","hgnc_id":"HGNC:29853","gene_name":"HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2","omim_gene":["617245"],"alias_name":null,"gene_symbol":"HECW2","hgnc_symbol":"HECW2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:197059094-197458416","ensembl_id":"ENSG00000138411"}},"GRch38":{"90":{"location":"2:196194370-196593692","ensembl_id":"ENSG00000138411"}}},"hgnc_date_symbol_changed":"2004-12-13"},"entity_type":"gene","entity_name":"HECW2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["29807643","29395664","27334371","27389779"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM#\t617268","intellectual disability","epilepsy","regression","microcephaly"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["Kv7.4"],"biotype":"protein_coding","hgnc_id":"HGNC:6298","gene_name":"potassium voltage-gated channel subfamily Q member 4","omim_gene":["603537"],"alias_name":null,"gene_symbol":"KCNQ4","hgnc_symbol":"KCNQ4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:41249684-41306124","ensembl_id":"ENSG00000117013"}},"GRch38":{"90":{"location":"1:40784012-40840452","ensembl_id":"ENSG00000117013"}}},"hgnc_date_symbol_changed":"1999-02-05"},"entity_type":"gene","entity_name":"KCNQ4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10369879"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal dominant 2A, MIM# 600101"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["OPN1MW1","COD5"],"biotype":null,"hgnc_id":"HGNC:4206","gene_name":"opsin 1, medium wave sensitive","omim_gene":["300821"],"alias_name":["cone dystrophy 5 (X-linked)"],"gene_symbol":"OPN1MW","hgnc_symbol":"OPN1MW","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153448107-153461633","ensembl_id":"ENSG00000147380"}},"GRch38":{"90":{"location":"X:154182596-154196135","ensembl_id":"ENSG00000268221"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"OPN1MW","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25168334","32860923"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Blue cone monochromacy - MIM#303700","Colourblindness, deutan - MIM#303800"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["SV/CNV"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["dJ412I7.1","FLJ37974","RSPH6B","CILD11"],"biotype":"protein_coding","hgnc_id":"HGNC:21558","gene_name":"radial spoke head 4 homolog A","omim_gene":["612647"],"alias_name":null,"gene_symbol":"RSPH4A","hgnc_symbol":"RSPH4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:116937642-116954148","ensembl_id":"ENSG00000111834"}},"GRch38":{"90":{"location":"6:116616479-116632985","ensembl_id":"ENSG00000111834"}}},"hgnc_date_symbol_changed":"2009-02-17"},"entity_type":"gene","entity_name":"RSPH4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23798057","23798057","23798057","25789548","22448264"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 11, OMIM#612649"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:11006","gene_name":"solute carrier family 2 member 2","omim_gene":["138160"],"alias_name":null,"gene_symbol":"SLC2A2","hgnc_symbol":"SLC2A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:170714137-170744539","ensembl_id":"ENSG00000163581"}},"GRch38":{"90":{"location":"3:170996348-171026750","ensembl_id":"ENSG00000163581"}}},"hgnc_date_symbol_changed":"1989-01-13"},"entity_type":"gene","entity_name":"SLC2A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30950137","22145468"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi-Bickel syndrome, MIM# 227810"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["CD141"],"biotype":"protein_coding","hgnc_id":"HGNC:11784","gene_name":"thrombomodulin","omim_gene":["188040"],"alias_name":null,"gene_symbol":"THBD","hgnc_symbol":"THBD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:23026270-23030378","ensembl_id":"ENSG00000178726"}},"GRch38":{"90":{"location":"20:23045633-23049741","ensembl_id":"ENSG00000178726"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"THBD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29500241","19625716","25564403","32634856","39841007","34474479"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Thrombophilia 12 due to thrombomodulin defect, MIM# 614486"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["FLJ30744"],"biotype":"protein_coding","hgnc_id":"HGNC:16517","gene_name":"transmembrane protease, serine 6","omim_gene":["609862"],"alias_name":["matriptase-2"],"gene_symbol":"TMPRSS6","hgnc_symbol":"TMPRSS6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:37461476-37505603","ensembl_id":"ENSG00000187045"}},"GRch38":{"90":{"location":"22:37065436-37109563","ensembl_id":"ENSG00000187045"}}},"hgnc_date_symbol_changed":"2003-12-17"},"entity_type":"gene","entity_name":"TMPRSS6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18408718","8596229","18596229","19592582"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Iron-refractory iron deficiency anaemia MIM# 206200","Iron malabsorption","hypochromic microcytic anaemia"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["DKFZp686F2227","MGC26733"],"biotype":"protein_coding","hgnc_id":"HGNC:28385","gene_name":"von Willebrand factor A domain containing 3B","omim_gene":["614884"],"alias_name":null,"gene_symbol":"VWA3B","hgnc_symbol":"VWA3B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:98703579-98929762","ensembl_id":"ENSG00000168658"}},"GRch38":{"90":{"location":"2:98087116-98313299","ensembl_id":"ENSG00000168658"}}},"hgnc_date_symbol_changed":"2007-08-14"},"entity_type":"gene","entity_name":"VWA3B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26157035","41673450","37772257"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 22 MIM#616948"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":[]},{"gene_data":{"alias":["PIGPC1","dJ496H19.1","KCP1","THW","KRTCAP1"],"biotype":"protein_coding","hgnc_id":"HGNC:17637","gene_name":"PERP, TP53 apoptosis effector","omim_gene":["609301"],"alias_name":["keratinocyte associated protein 1"],"gene_symbol":"PERP","hgnc_symbol":"PERP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:138409642-138428648","ensembl_id":"ENSG00000112378"}},"GRch38":{"90":{"location":"6:138088505-138107511","ensembl_id":"ENSG00000112378"}}},"hgnc_date_symbol_changed":"2003-11-19"},"entity_type":"gene","entity_name":"PERP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31898316","30321533","31361044"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Olmsted syndrome 2, MIM# 619208","Erythrokeratodermia variabilis et progressiva 7, MIM# 619209"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":[]},{"gene_data":{"alias":["CALNB1","CNB","CNB1"],"biotype":"protein_coding","hgnc_id":"HGNC:9317","gene_name":"protein phosphatase 3 regulatory subunit B, alpha","omim_gene":["601302"],"alias_name":["calcineurin B, type I (19kDa)","protein phosphatase 2B regulatory subunit B alpha"],"gene_symbol":"PPP3R1","hgnc_symbol":"PPP3R1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:68405989-68483369","ensembl_id":"ENSG00000221823"}},"GRch38":{"90":{"location":"2:68178857-68256237","ensembl_id":"ENSG00000221823"}}},"hgnc_date_symbol_changed":"1993-01-25"},"entity_type":"gene","entity_name":"PPP3R1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["32337552","19159392"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Deafness, autosomal dominant 58\t MIM#615654"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["PRRDH","SDR28C2"],"biotype":"protein_coding","hgnc_id":"HGNC:14423","gene_name":"retinol dehydrogenase 8 (all-trans)","omim_gene":["608575"],"alias_name":["short chain dehydrogenase/reductase family 28C, member 2"],"gene_symbol":"RDH8","hgnc_symbol":"RDH8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:10123925-10132955","ensembl_id":"ENSG00000080511"}},"GRch38":{"90":{"location":"19:10013249-10022279","ensembl_id":"ENSG00000080511"}}},"hgnc_date_symbol_changed":"2001-04-27"},"entity_type":"gene","entity_name":"RDH8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["37628710","18048336","22621924"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Stargardt disease 5, MIM# 621259"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":[]},{"gene_data":{"alias":["JAW1L","IRAG"],"biotype":"protein_coding","hgnc_id":"HGNC:7237","gene_name":"murine retrovirus integration site 1 homolog","omim_gene":["604673"],"alias_name":["inositol 1,4,5-triphosphate-associated cGMP kinase substrate","IP3R-associated cGMP kinase substrate"],"gene_symbol":"MRVI1","hgnc_symbol":"MRVI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:10594638-10715535","ensembl_id":"ENSG00000072952"}},"GRch38":{"90":{"location":"11:10573091-10693988","ensembl_id":"ENSG00000072952"}}},"hgnc_date_symbol_changed":"1999-06-10"},"entity_type":"gene","entity_name":"MRVI1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["30001348"],"evidence":["Expert Review Red","NHS GMS"],"phenotypes":["Moyamoya disease MONDO:0016820"],"mode_of_inheritance":"Unknown","tags":["new gene name"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":[]},{"gene_data":{"alias":["DKFZP566C134"],"biotype":"protein_coding","hgnc_id":"HGNC:21751","gene_name":"kelch repeat and BTB domain containing 2","omim_gene":null,"alias_name":null,"gene_symbol":"KBTBD2","hgnc_symbol":"KBTBD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:32907784-32933743","ensembl_id":"ENSG00000170852"}},"GRch38":{"90":{"location":"7:32868172-32894131","ensembl_id":"ENSG00000170852"}}},"hgnc_date_symbol_changed":"2003-12-12"},"entity_type":"gene","entity_name":"KBTBD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39313616"],"evidence":["Expert Review Green","Literature"],"phenotypes":["neurodevelopmental disorder MONDO:0700092, KBTBD2-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:14244","gene_name":"RAB18, member RAS oncogene family","omim_gene":["602207"],"alias_name":null,"gene_symbol":"RAB18","hgnc_symbol":"RAB18","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:27793197-27831143","ensembl_id":"ENSG00000099246"}},"GRch38":{"90":{"location":"10:27504174-27542237","ensembl_id":"ENSG00000099246"}}},"hgnc_date_symbol_changed":"2000-12-12"},"entity_type":"gene","entity_name":"RAB18","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11237903","23420520"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Warburg micro syndrome 3, MIM# 614222"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3642","gene_name":"ferredoxin reductase","omim_gene":["103270"],"alias_name":["adrenodoxin-NADP(+) reductase","adrenodoxin reductase"],"gene_symbol":"FDXR","hgnc_symbol":"FDXR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:72858619-72869156","ensembl_id":"ENSG00000161513"}},"GRch38":{"90":{"location":"17:74862497-74873031","ensembl_id":"ENSG00000161513"}}},"hgnc_date_symbol_changed":"1988-06-09"},"entity_type":"gene","entity_name":"FDXR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30250212","28965846","29040572","33348459","37046037","37481223"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Auditory neuropathy and optic atrophy, MIM# 617717","Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CMS"],"biotype":"protein_coding","hgnc_id":"HGNC:14258","gene_name":"CD2 associated protein","omim_gene":["604241"],"alias_name":null,"gene_symbol":"CD2AP","hgnc_symbol":"CD2AP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:47445525-47594999","ensembl_id":"ENSG00000198087"}},"GRch38":{"90":{"location":"6:47477789-47627263","ensembl_id":"ENSG00000198087"}}},"hgnc_date_symbol_changed":"2000-12-14"},"entity_type":"gene","entity_name":"CD2AP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30612599","17713465","10997929","12764198","15951437"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":144,"hash_id":null,"name":"Proteinuria","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"To be used in individuals with suspected nephrotic syndrome and related conditions, part of the Renal Glomerular Disease Superpanel.\r\n\r\n09/01/2020: This panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.","status":"public","version":"0.239","version_created":"2026-03-12T18:51:41.043263+11:00","relevant_disorders":["Proteinuria HP:0000093"],"stats":{"number_of_genes":88,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EDA1","XLHED","HED","XHED","ED1-A1","ED1-A2","EDA-A1","EDA-A2"],"biotype":"protein_coding","hgnc_id":"HGNC:3157","gene_name":"ectodysplasin A","omim_gene":["300451"],"alias_name":null,"gene_symbol":"EDA","hgnc_symbol":"EDA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:68835911-69259319","ensembl_id":"ENSG00000158813"}},"GRch38":{"90":{"location":"X:69616067-70039469","ensembl_id":"ENSG00000158813"}}},"hgnc_date_symbol_changed":"2004-08-12"},"entity_type":"gene","entity_name":"EDA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27144394","8696334","9507389","9683615","18657636"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100","Tooth agenesis, selective, X-linked 1 MIM#313500"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":148,"hash_id":null,"name":"Oligodontia","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.33","version_created":"2026-02-21T15:35:59.668194+11:00","relevant_disorders":["Abnormal number of teeth HP:0006483"],"stats":{"number_of_genes":14,"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":["FLJ23119","KIAA1790","Roco1","RIPK6"],"biotype":"protein_coding","hgnc_id":"HGNC:18608","gene_name":"leucine rich repeat kinase 1","omim_gene":["610986"],"alias_name":null,"gene_symbol":"LRRK1","hgnc_symbol":"LRRK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:101459420-101610317","ensembl_id":"ENSG00000154237"}},"GRch38":{"90":{"location":"15:100919215-101078254","ensembl_id":"ENSG00000154237"}}},"hgnc_date_symbol_changed":"2004-01-22"},"entity_type":"gene","entity_name":"LRRK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27829680","27055475","31571209","32119750"],"evidence":["Expert Review Green","Expert Review","Expert Review"],"phenotypes":["Osteosclerotic metaphyseal dysplasia (OSMD) (OMIM: 615198)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":150,"hash_id":null,"name":"Osteopetrosis","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel contains genes associated with osteopetrosis, a group of hereditary metabolic bone diseases, all of which detrimentally affect bone growth and remodelling leading to generalized osteosclerosis.\r\n\r\nThe panel includes skeletal dysplasias and syndromic disorders associated with bone sclerosis that can overlap with the clinical presentation of classical osteopetrosis.\r\n\r\nThis panel was developed and is maintained by VCGS. It has been compared against the Genomics England PanelApp 'osteopetrosis' panel V1.35, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nUpdated following literature review December 2025.","status":"public","version":"1.0","version_created":"2025-12-22T12:45:57.007049+11:00","relevant_disorders":["Increased bone mineral density","HP:0011001"],"stats":{"number_of_genes":37,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["XAP101","dyskerin","NAP57","NOLA4","Cbf5"],"biotype":"protein_coding","hgnc_id":"HGNC:2890","gene_name":"dyskerin pseudouridine synthase 1","omim_gene":["300126"],"alias_name":["H/ACA ribonucleoprotein complex subunit 4"],"gene_symbol":"DKC1","hgnc_symbol":"DKC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153991031-154005964","ensembl_id":"ENSG00000130826"}},"GRch38":{"90":{"location":"X:154762742-154777689","ensembl_id":"ENSG00000130826"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"DKC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31269755","26951492","29081935","25940403"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Dyskeratosis congenita, X-linked 305000","Hoyeraal-Hreidarsson Syndrome"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":162,"hash_id":null,"name":"Pulmonary Fibrosis_Interstitial Lung Disease","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.","status":"public","version":"1.10","version_created":"2026-03-17T11:39:32.713501+11:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":97,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:17939","gene_name":"solute carrier family 45 member 1","omim_gene":["605763"],"alias_name":["H+/sugar symporter"],"gene_symbol":"SLC45A1","hgnc_symbol":"SLC45A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:8377886-8404227","ensembl_id":"ENSG00000162426"}},"GRch38":{"90":{"location":"1:8317826-8344167","ensembl_id":"ENSG00000162426"}}},"hgnc_date_symbol_changed":"2005-10-04"},"entity_type":"gene","entity_name":"SLC45A1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["28434495"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Intellectual developmental disorder with neuropsychiatric features, MIM# 617532"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:16882","gene_name":"hyperpolarization activated cyclic nucleotide gated potassium channel 4","omim_gene":["605206"],"alias_name":null,"gene_symbol":"HCN4","hgnc_symbol":"HCN4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:73612200-73661605","ensembl_id":"ENSG00000138622"}},"GRch38":{"90":{"location":"15:73319859-73369264","ensembl_id":"ENSG00000138622"}}},"hgnc_date_symbol_changed":"2002-09-02"},"entity_type":"gene","entity_name":"HCN4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["30127718","29588962"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["{Epilepsy, idiopathic generalized, susceptibility to, 18}, MIM#\t619521"],"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 Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC23130","MiD49"],"biotype":"protein_coding","hgnc_id":"HGNC:17920","gene_name":"mitochondrial elongation factor 2","omim_gene":["615498"],"alias_name":null,"gene_symbol":"MIEF2","hgnc_symbol":"MIEF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:18163848-18169866","ensembl_id":"ENSG00000177427"}},"GRch38":{"90":{"location":"17:18260534-18266552","ensembl_id":"ENSG00000177427"}}},"hgnc_date_symbol_changed":"2013-09-23"},"entity_type":"gene","entity_name":"MIEF2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["29361167"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Combined oxidative phosphorylation deficiency 49, MIM# 619024","Progressive muscle weakness","Exercise intolerance","Ragged red and COX negative fibres","Complex I and IV deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0047","CHMP1","Vps46A"],"biotype":"protein_coding","hgnc_id":"HGNC:8740","gene_name":"charged multivesicular body protein 1A","omim_gene":["164010"],"alias_name":null,"gene_symbol":"CHMP1A","hgnc_symbol":"CHMP1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:89710839-89724253","ensembl_id":"ENSG00000131165"}},"GRch38":{"90":{"location":"16:89644431-89657845","ensembl_id":"ENSG00000131165"}}},"hgnc_date_symbol_changed":"2007-03-20"},"entity_type":"gene","entity_name":"CHMP1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2158","gene_name":"2',3'-cyclic nucleotide 3' phosphodiesterase","omim_gene":["123830"],"alias_name":null,"gene_symbol":"CNP","hgnc_symbol":"CNP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40118759-40129749","ensembl_id":"ENSG00000173786"}},"GRch38":{"90":{"location":"17:41966741-41977731","ensembl_id":"ENSG00000173786"}}},"hgnc_date_symbol_changed":"1991-07-15"},"entity_type":"gene","entity_name":"CNP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32128616","12590258","40396300"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Leukodystrophy, hypomyelinating, 20, MIM# 619071"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:24316","gene_name":"translational activator of cytochrome c oxidase I","omim_gene":["612958"],"alias_name":null,"gene_symbol":"TACO1","hgnc_symbol":"TACO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:61678231-61685725","ensembl_id":"ENSG00000136463"}},"GRch38":{"90":{"location":"17:63600872-63608365","ensembl_id":"ENSG00000136463"}}},"hgnc_date_symbol_changed":"2009-06-26"},"entity_type":"gene","entity_name":"TACO1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["19503089","20727754","25044680","27319982"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD117","SCFR","C-Kit"],"biotype":"protein_coding","hgnc_id":"HGNC:6342","gene_name":"KIT proto-oncogene receptor tyrosine kinase","omim_gene":["164920"],"alias_name":null,"gene_symbol":"KIT","hgnc_symbol":"KIT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:55524085-55606881","ensembl_id":"ENSG00000157404"}},"GRch38":{"90":{"location":"4:54657918-54740715","ensembl_id":"ENSG00000157404"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"KIT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Piebaldism, MIM#\t172800"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11982","gene_name":"target of myb1 membrane trafficking protein","omim_gene":["604700"],"alias_name":null,"gene_symbol":"TOM1","hgnc_symbol":"TOM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:35695268-35743985","ensembl_id":"ENSG00000100284"}},"GRch38":{"90":{"location":"22:35299275-35347994","ensembl_id":"ENSG00000100284"}}},"hgnc_date_symbol_changed":"1998-10-14"},"entity_type":"gene","entity_name":"TOM1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["31263572"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Immunodeficiency 85 and autoimmunity, MIM#\t619510"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.145","version_created":"2026-03-02T21:55:19.238904+11:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CD229","mLY9","SLAMF3","hly9"],"biotype":"protein_coding","hgnc_id":"HGNC:6730","gene_name":"lymphocyte antigen 9","omim_gene":["600684"],"alias_name":null,"gene_symbol":"LY9","hgnc_symbol":"LY9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:160765864-160798051","ensembl_id":"ENSG00000122224"}},"GRch38":{"90":{"location":"1:160796074-160828261","ensembl_id":"ENSG00000122224"}}},"hgnc_date_symbol_changed":"1998-06-05"},"entity_type":"gene","entity_name":"LY9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40446017"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Inborn error of immunity, MONDO:0003778, LY9-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":231,"hash_id":null,"name":"Defects of intrinsic and innate immunity","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause defects in intrinsic and innate immunity, including the following:\r\n- Mendelian susceptibility to mycobacterial disease (MSMD)\r\n- Epidermodysplasia verruciformis (HPV)\r\n- Predisposition to severe viral infection\r\n- Herpes simplex encephalitis (HSE)\r\n- Predisposition to mucocutaneous candidiasis\r\n- Other inborn errors of immunity related to non-haematopoietic tissues\r\n- Other inborn errors of immunity related to leukocytes\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.39","version_created":"2026-04-15T16:26:05.053680+10:00","relevant_disorders":["Unusual infections","HP:0032101"],"stats":{"number_of_genes":86,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["XLP","MTCP1","DSHP","XLPD","EBVS","SAP"],"biotype":"protein_coding","hgnc_id":"HGNC:10820","gene_name":"SH2 domain containing 1A","omim_gene":["300490"],"alias_name":["Duncan's disease"],"gene_symbol":"SH2D1A","hgnc_symbol":"SH2D1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:123480194-123507005","ensembl_id":"ENSG00000183918"}},"GRch38":{"90":{"location":"X:124227868-124373197","ensembl_id":"ENSG00000183918"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"SH2D1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["9771704"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Host response to EBV infection","Lymphoproliferative syndrome, X-linked, 1\t308240"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":237,"hash_id":null,"name":"Susceptibility to Viral Infections","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital). It is currently maintained by VCGS.\r\n\r\nUpdated with the 2019 International Union of Immunological Societies Committee classification, Tangye et al. 2019 and the COVID Human Genetic Effort list, Casanova et al 2020.","status":"public","version":"1.10","version_created":"2026-03-26T15:17:02.053015+11:00","relevant_disorders":["Recurrent viral infections","HP:0004429; Severe viral infection","HP:0031691"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["XPAC","XP1"],"biotype":"protein_coding","hgnc_id":"HGNC:12814","gene_name":"XPA, DNA damage recognition and repair factor","omim_gene":["611153"],"alias_name":null,"gene_symbol":"XPA","hgnc_symbol":"XPA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:100437191-100459639","ensembl_id":"ENSG00000136936"}},"GRch38":{"90":{"location":"9:97674909-97697357","ensembl_id":"ENSG00000136936"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"XPA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26302748","25566891","24135642"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Xeroderma pigmentosum, group A","OMIM# 278700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.753","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":["FLJ23403","FLJ23144","HsT748","HsT771","FLJ34907"],"biotype":"protein_coding","hgnc_id":"HGNC:26270","gene_name":"piezo type mechanosensitive ion channel component 2","omim_gene":["613629"],"alias_name":null,"gene_symbol":"PIEZO2","hgnc_symbol":"PIEZO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:10666480-11148587","ensembl_id":"ENSG00000154864"}},"GRch38":{"90":{"location":"18:10666483-11148762","ensembl_id":"ENSG00000154864"}}},"hgnc_date_symbol_changed":"2011-08-31"},"entity_type":"gene","entity_name":"PIEZO2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["24726473"],"evidence":["Expert Review Amber","Genetic Health Queensland"],"phenotypes":["Marden-Walker syndrome, MIM# 248700","Arthrogryposis, distal, type 3, MIM# 114300"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.753","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":["NHE6","KIAA0267"],"biotype":"protein_coding","hgnc_id":"HGNC:11079","gene_name":"solute carrier family 9 member A6","omim_gene":["300231"],"alias_name":null,"gene_symbol":"SLC9A6","hgnc_symbol":"SLC9A6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:135067598-135129423","ensembl_id":"ENSG00000198689"}},"GRch38":{"90":{"location":"X:135973841-136047269","ensembl_id":"ENSG00000198689"}}},"hgnc_date_symbol_changed":"1999-07-30"},"entity_type":"gene","entity_name":"SLC9A6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18342287","19377476","25044251","33278113","32569089","31879735"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Mental retardation, X-linked syndromic, Christianson type, MIM# 300243","MONDO:0010278"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.753","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":["DRN3"],"biotype":"protein_coding","hgnc_id":"HGNC:12269","gene_name":"three prime repair exonuclease 1","omim_gene":["606609"],"alias_name":null,"gene_symbol":"TREX1","hgnc_symbol":"TREX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:48506445-48509044","ensembl_id":"ENSG00000213689"}},"GRch38":{"90":{"location":"3:48465811-48467645","ensembl_id":"ENSG00000213689"}}},"hgnc_date_symbol_changed":"2000-05-17"},"entity_type":"gene","entity_name":"TREX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25604658","16845398","17357087","31559893"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Aicardi-Goutieres syndrome MONDO:0018866"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.753","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":["IRP2"],"biotype":"protein_coding","hgnc_id":"HGNC:6115","gene_name":"iron responsive element binding protein 2","omim_gene":["147582"],"alias_name":null,"gene_symbol":"IREB2","hgnc_symbol":"IREB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:78729773-78793798","ensembl_id":"ENSG00000136381"}},"GRch38":{"90":{"location":"15:78437431-78501456","ensembl_id":"ENSG00000136381"}}},"hgnc_date_symbol_changed":"1991-02-20"},"entity_type":"gene","entity_name":"IREB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30915432","31243445","11175792","35602653"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.753","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":[]},{"gene_data":{"alias":["CDR","ETO","MTG8","ZMYND2"],"biotype":"protein_coding","hgnc_id":"HGNC:1535","gene_name":"RUNX1 translocation partner 1","omim_gene":["133435"],"alias_name":null,"gene_symbol":"RUNX1T1","hgnc_symbol":"RUNX1T1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:92967203-93115514","ensembl_id":"ENSG00000079102"}},"GRch38":{"90":{"location":"8:91954967-92103286","ensembl_id":"ENSG00000079102"}}},"hgnc_date_symbol_changed":"2005-01-22"},"entity_type":"gene","entity_name":"RUNX1T1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39568205","19172993","22644616","31223340"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder MONDO:0700092, RUNX1T1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.753","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":[]},{"gene_data":{"alias":["EXLM1","CRSP150","TRAP170","RGR1","CSRP"],"biotype":"protein_coding","hgnc_id":"HGNC:2370","gene_name":"mediator complex subunit 14","omim_gene":["300182"],"alias_name":null,"gene_symbol":"MED14","hgnc_symbol":"MED14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:40507558-40595110","ensembl_id":"ENSG00000180182"}},"GRch38":{"90":{"location":"X:40648306-40735858","ensembl_id":"ENSG00000180182"}}},"hgnc_date_symbol_changed":"2007-07-30"},"entity_type":"gene","entity_name":"MED14","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 40597352"],"evidence":["Expert Review Red","Literature","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO:0700092), MED14-related"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.753","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":["trnH"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7487","gene_name":"mitochondrially encoded tRNA histidine","omim_gene":["590040"],"alias_name":null,"gene_symbol":"MT-TH","hgnc_symbol":"MT-TH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:12138-12206","ensembl_id":"ENSG00000210176"}},"GRch38":{"90":{"location":"MT:12138-12206","ensembl_id":"ENSG00000210176"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["12682337","14967777","15111688","21704194","21931169","23696415","35092007","24920829","21704194"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TH-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"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":[]},{"gene_data":{"alias":["ABL"],"biotype":"protein_coding","hgnc_id":"HGNC:7467","gene_name":"microsomal triglyceride transfer protein","omim_gene":["157147"],"alias_name":null,"gene_symbol":"MTTP","hgnc_symbol":"MTTP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:100484918-100545156","ensembl_id":"ENSG00000138823"}},"GRch38":{"90":{"location":"4:99563761-99623999","ensembl_id":"ENSG00000138823"}}},"hgnc_date_symbol_changed":"2005-11-04"},"entity_type":"gene","entity_name":"MTTP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33994405"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Abetalipoproteinemia (MIM#200100)","Young onset","Abetalipoproteinaemia","hypocholesterloaemia leading to malabsorption of fat-soluble vitamins (vitamin E), acanthocytes, retinitis pigmentosa, progressive sensory axonal neuropathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:15508","gene_name":"pseudouridylate synthase 1","omim_gene":["608109"],"alias_name":["tRNA pseudouridine(38-40) synthase"],"gene_symbol":"PUS1","hgnc_symbol":"PUS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:132413745-132428406","ensembl_id":"ENSG00000177192"}},"GRch38":{"90":{"location":"12:131929200-131945896","ensembl_id":"ENSG00000177192"}}},"hgnc_date_symbol_changed":"2001-04-06"},"entity_type":"gene","entity_name":"PUS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC: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":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Peroxisome biogenesis disorder 11A (Zellweger), 614883"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["XPAC","XP1"],"biotype":"protein_coding","hgnc_id":"HGNC:12814","gene_name":"XPA, DNA damage recognition and repair factor","omim_gene":["611153"],"alias_name":null,"gene_symbol":"XPA","hgnc_symbol":"XPA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:100437191-100459639","ensembl_id":"ENSG00000136936"}},"GRch38":{"90":{"location":"9:97674909-97697357","ensembl_id":"ENSG00000136936"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"XPA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Xeroderma pigmentosum"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2295","gene_name":"ceruloplasmin","omim_gene":["117700"],"alias_name":["ferroxidase"],"gene_symbol":"CP","hgnc_symbol":"CP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:148880197-148939842","ensembl_id":"ENSG00000047457"}},"GRch38":{"90":{"location":"3:149162410-149222055","ensembl_id":"ENSG00000047457"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CP","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category B gene"],"phenotypes":["Aceruloplasminaemia"],"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":["ACHRE"],"biotype":"protein_coding","hgnc_id":"HGNC:1966","gene_name":"cholinergic receptor nicotinic epsilon subunit","omim_gene":["100725"],"alias_name":["acetylcholine receptor, nicotinic, epsilon (muscle)"],"gene_symbol":"CHRNE","hgnc_symbol":"CHRNE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:4801069-4806369","ensembl_id":"ENSG00000108556"}},"GRch38":{"90":{"location":"17:4897774-4903074","ensembl_id":"ENSG00000108556"}}},"hgnc_date_symbol_changed":"1992-04-23"},"entity_type":"gene","entity_name":"CHRNE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Congenital myasthenic 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":["CA44"],"biotype":"protein_coding","hgnc_id":"HGNC:2206","gene_name":"collagen type IV alpha 4 chain","omim_gene":["120131"],"alias_name":["collagen of basement membrane, alpha-4 chain"],"gene_symbol":"COL4A4","hgnc_symbol":"COL4A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:227867427-228028829","ensembl_id":"ENSG00000081052"}},"GRch38":{"90":{"location":"2:227002711-227164113","ensembl_id":"ENSG00000081052"}}},"hgnc_date_symbol_changed":"1992-06-25"},"entity_type":"gene","entity_name":"COL4A4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Alport 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":["FLJ33903","PPP1R147"],"biotype":"protein_coding","hgnc_id":"HGNC:20249","gene_name":"sprouty related EVH1 domain containing 1","omim_gene":["609291"],"alias_name":["protein phosphatase 1, regulatory subunit 147"],"gene_symbol":"SPRED1","hgnc_symbol":"SPRED1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:38544527-38649450","ensembl_id":"ENSG00000166068"}},"GRch38":{"90":{"location":"15:38252326-38357249","ensembl_id":"ENSG00000166068"}}},"hgnc_date_symbol_changed":"2003-01-24"},"entity_type":"gene","entity_name":"SPRED1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Legius syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4806","gene_name":"histidine ammonia-lyase","omim_gene":["609457"],"alias_name":null,"gene_symbol":"HAL","hgnc_symbol":"HAL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:96366440-96390143","ensembl_id":"ENSG00000084110"}},"GRch38":{"90":{"location":"12:95972662-95996365","ensembl_id":"ENSG00000084110"}}},"hgnc_date_symbol_changed":"1988-08-31"},"entity_type":"gene","entity_name":"HAL","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["27604308","15806399","20156889"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Histidinemia MIM#235800","Disorders of histidine, tryptophan or lysine metabolism"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MOCOD"],"biotype":"protein_coding","hgnc_id":"HGNC:7190","gene_name":"molybdenum cofactor synthesis 1","omim_gene":["603707"],"alias_name":null,"gene_symbol":"MOCS1","hgnc_symbol":"MOCS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:39867354-39902290","ensembl_id":"ENSG00000124615"}},"GRch38":{"90":{"location":"6:39899578-39934551","ensembl_id":"ENSG00000124615"}}},"hgnc_date_symbol_changed":"1998-07-23"},"entity_type":"gene","entity_name":"MOCS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27604308","9731530"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Molybdenum cofactor deficiency A MIM#252150","Disorders of molybdenum cofactor metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["UNQ689","RSTI689"],"biotype":"protein_coding","hgnc_id":"HGNC:33188","gene_name":"amelotin","omim_gene":["610912"],"alias_name":null,"gene_symbol":"AMTN","hgnc_symbol":"AMTN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:71384257-71398459","ensembl_id":"ENSG00000187689"}},"GRch38":{"90":{"location":"4:70518540-70532742","ensembl_id":"ENSG00000187689"}}},"hgnc_date_symbol_changed":"2006-12-06"},"entity_type":"gene","entity_name":"AMTN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other","publications":["27412008","25715379","26620968"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Amelogenesis imperfecta, type IIIB"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3564,"hash_id":null,"name":"Amelogenesis imperfecta","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"1.14","version_created":"2026-01-09T15:02:14.439855+11:00","relevant_disorders":["Amelogenesis imperfecta","HP:0000705"],"stats":{"number_of_genes":41,"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:11367","gene_name":"signal transducer and activator of transcription 5B","omim_gene":["604260"],"alias_name":null,"gene_symbol":"STAT5B","hgnc_symbol":"STAT5B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40351186-40428725","ensembl_id":"ENSG00000173757"}},"GRch38":{"90":{"location":"17:42199168-42276707","ensembl_id":"ENSG00000173757"}}},"hgnc_date_symbol_changed":"1997-01-28"},"entity_type":"gene","entity_name":"STAT5B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["13679528","15827093","16787985","17389811","29844444"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MIM# 245590","Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, MIM# 618985"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.103","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":["FLJ32926","CILD20"],"biotype":"protein_coding","hgnc_id":"HGNC:26560","gene_name":"coiled-coil domain containing 114","omim_gene":["615038"],"alias_name":null,"gene_symbol":"CCDC114","hgnc_symbol":"CCDC114","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:48799714-48825151","ensembl_id":"ENSG00000105479"}},"GRch38":{"90":{"location":"19:48296457-48321894","ensembl_id":"ENSG00000105479"}}},"hgnc_date_symbol_changed":"2006-06-21"},"entity_type":"gene","entity_name":"CCDC114","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23261303","23261302","32855706","23506398"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 20, MIM# 615067"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. 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":["DUTT1","FLJ21882","SAX3"],"biotype":"protein_coding","hgnc_id":"HGNC:10249","gene_name":"roundabout guidance receptor 1","omim_gene":["602430"],"alias_name":null,"gene_symbol":"ROBO1","hgnc_symbol":"ROBO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:78646390-79816965","ensembl_id":"ENSG00000169855"}},"GRch38":{"90":{"location":"3:78597240-79767815","ensembl_id":"ENSG00000169855"}}},"hgnc_date_symbol_changed":"1998-03-26"},"entity_type":"gene","entity_name":"ROBO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30712880","28485101","28592524"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Tetralogy of Fallot and septal defects","Congenital heart disease, MONDO:0005453"],"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":["BBS8","RP51"],"biotype":"protein_coding","hgnc_id":"HGNC:20087","gene_name":"tetratricopeptide repeat domain 8","omim_gene":["608132"],"alias_name":null,"gene_symbol":"TTC8","hgnc_symbol":"TTC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:89290497-89344335","ensembl_id":"ENSG00000165533"}},"GRch38":{"90":{"location":"14:88824153-88881078","ensembl_id":"ENSG00000165533"}}},"hgnc_date_symbol_changed":"2002-12-17"},"entity_type":"gene","entity_name":"TTC8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14520415","19797195"],"evidence":["Expert Review Green","Genomics England PanelApp","KidGen_CilioNephronop v38.1.0","Victorian Clinical Genetics Services"],"phenotypes":["Bardet-Biedl syndrome 8, MIM# 615985"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":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":["HT2A","TATIP","BBS11"],"biotype":"protein_coding","hgnc_id":"HGNC:16380","gene_name":"tripartite motif containing 32","omim_gene":["602290"],"alias_name":null,"gene_symbol":"TRIM32","hgnc_symbol":"TRIM32","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:119449581-119463579","ensembl_id":"ENSG00000119401"}},"GRch38":{"90":{"location":"9:116687302-116701300","ensembl_id":"ENSG00000119401"}}},"hgnc_date_symbol_changed":"2001-08-10"},"entity_type":"gene","entity_name":"TRIM32","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["30823891","16606853"],"evidence":["Expert Review Red","Genomics England PanelApp","KidGen_CilioNephronop v38.1.0"],"phenotypes":["Bardet-Biedl syndrome 11, MIM# 615988","Muscular dystrophy, limb-girdle, autosomal recessive 8, MIM# 254110"],"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":["KIAA1202"],"biotype":"protein_coding","hgnc_id":"HGNC:29215","gene_name":"shroom family member 4","omim_gene":["300579"],"alias_name":null,"gene_symbol":"SHROOM4","hgnc_symbol":"SHROOM4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:50334647-50557302","ensembl_id":"ENSG00000158352"}},"GRch38":{"90":{"location":"X:50591647-50814302","ensembl_id":"ENSG00000158352"}}},"hgnc_date_symbol_changed":"2006-07-20"},"entity_type":"gene","entity_name":"SHROOM4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32565546","16249884","26740508"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Stocco dos Santos X-linked mental retardation syndrome, 300434"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.559","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":["RALDH2"],"biotype":"protein_coding","hgnc_id":"HGNC:15472","gene_name":"aldehyde dehydrogenase 1 family member A2","omim_gene":["603687"],"alias_name":["retinaldehyde dehydrogenase 2"],"gene_symbol":"ALDH1A2","hgnc_symbol":"ALDH1A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:58245622-58790065","ensembl_id":"ENSG00000128918"}},"GRch38":{"90":{"location":"15:57953424-58497866","ensembl_id":"ENSG00000128918"}}},"hgnc_date_symbol_changed":"2001-03-30"},"entity_type":"gene","entity_name":"ALDH1A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33565183","19886994","10192400"],"evidence":["Expert Review Green","Literature","Expert list"],"phenotypes":["Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025"],"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":["GLUR7","GPRC1G","mGlu7","MGLUR7","PPP1R87"],"biotype":"protein_coding","hgnc_id":"HGNC:4599","gene_name":"glutamate metabotropic receptor 7","omim_gene":["604101"],"alias_name":["protein phosphatase 1, regulatory subunit 87"],"gene_symbol":"GRM7","hgnc_symbol":"GRM7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:6811688-7783215","ensembl_id":"ENSG00000196277"}},"GRch38":{"90":{"location":"3:6770001-7741533","ensembl_id":"ENSG00000196277"}}},"hgnc_date_symbol_changed":"1995-10-11"},"entity_type":"gene","entity_name":"GRM7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32286009","32248644"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities\tMIM#618922"],"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":["THO2","dJ506G2.1"],"biotype":"protein_coding","hgnc_id":"HGNC:19073","gene_name":"THO complex 2","omim_gene":["300395"],"alias_name":null,"gene_symbol":"THOC2","hgnc_symbol":"THOC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:122734412-122866906","ensembl_id":"ENSG00000125676"}},"GRch38":{"90":{"location":"X:123600561-123733056","ensembl_id":"ENSG00000125676"}}},"hgnc_date_symbol_changed":"2002-12-09"},"entity_type":"gene","entity_name":"THOC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26166480","32116545","29851191","32960281","34976470","37945483"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Intellectual developmental disorder, X-linked 12 MIM#300957"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:40038","gene_name":"PET100 homolog","omim_gene":["614770"],"alias_name":null,"gene_symbol":"PET100","hgnc_symbol":"PET100","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:7694623-7696842","ensembl_id":"ENSG00000229833"}},"GRch38":{"90":{"location":"19:7629737-7631956","ensembl_id":"ENSG00000229833"}}},"hgnc_date_symbol_changed":"2012-06-25"},"entity_type":"gene","entity_name":"PET100","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055"],"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":["RYR","PPP1R137"],"biotype":"protein_coding","hgnc_id":"HGNC:10483","gene_name":"ryanodine receptor 1","omim_gene":["180901"],"alias_name":["protein phosphatase 1, regulatory subunit 137"],"gene_symbol":"RYR1","hgnc_symbol":"RYR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:38924339-39078204","ensembl_id":"ENSG00000196218"}},"GRch38":{"90":{"location":"19:38433699-38587564","ensembl_id":"ENSG00000196218"}}},"hgnc_date_symbol_changed":"1989-12-01"},"entity_type":"gene","entity_name":"RYR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["PMID: 16917943, PMID: 23919265, PMID: 30155738, PMID: 27855725"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000","Central core disease, MIM# 117000"],"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:663","gene_name":"arginase 1","omim_gene":["608313"],"alias_name":null,"gene_symbol":"ARG1","hgnc_symbol":"ARG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:131894284-131905472","ensembl_id":"ENSG00000118520"}},"GRch38":{"90":{"location":"6:131573144-131584332","ensembl_id":"ENSG00000118520"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ARG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["16747805","23859858","1463019","1598908","12052859","23920045"],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["hyperargininemia MONDO:0008814"],"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":["LFA-1","MAC-1"],"biotype":"protein_coding","hgnc_id":"HGNC:6155","gene_name":"integrin subunit beta 2","omim_gene":["600065"],"alias_name":["complement component 3 receptor 3 and 4 subunit"],"gene_symbol":"ITGB2","hgnc_symbol":"ITGB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:46305868-46351904","ensembl_id":"ENSG00000160255"}},"GRch38":{"90":{"location":"21:44885953-44931989","ensembl_id":"ENSG00000160255"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ITGB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Leukocyte adhesion deficiency, MIM#\t116920"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FAG"],"biotype":"protein_coding","hgnc_id":"HGNC:3588","gene_name":"Fanconi anemia complementation group G","omim_gene":["602956"],"alias_name":["DNA repair protein XRCC9","X-ray repair, complementing defective, in Chinese hamster, 9","X-ray repair complementing defective repair in Chinese hamster cells 9"],"gene_symbol":"FANCG","hgnc_symbol":"FANCG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:35073832-35080013","ensembl_id":"ENSG00000221829"}},"GRch38":{"90":{"location":"9:35073835-35080016","ensembl_id":"ENSG00000221829"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Fanconi anaemia, MIM#614082"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ14848"],"biotype":"protein_coding","hgnc_id":"HGNC:12712","gene_name":"VPS33B, late endosome and lysosome associated","omim_gene":["608552"],"alias_name":null,"gene_symbol":"VPS33B","hgnc_symbol":"VPS33B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91541646-91565833","ensembl_id":"ENSG00000184056"}},"GRch38":{"90":{"location":"15:90998416-91022603","ensembl_id":"ENSG00000184056"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"VPS33B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31777725","31240160","24415890","15052268"],"evidence":["Expert Review Green","KidGen_Tubulopathies v38.1.0","Expert Review Green","KidGen_Tubulopathies v38.1.0"],"phenotypes":["Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"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"},{"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."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ABP-280","ABPL"],"biotype":"protein_coding","hgnc_id":"HGNC:3756","gene_name":"filamin C","omim_gene":["102565"],"alias_name":["actin binding protein 280","gamma filamin"],"gene_symbol":"FLNC","hgnc_symbol":"FLNC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:128470431-128499328","ensembl_id":"ENSG00000128591"}},"GRch38":{"90":{"location":"7:128830377-128859274","ensembl_id":"ENSG00000128591"}}},"hgnc_date_symbol_changed":"1993-08-24"},"entity_type":"gene","entity_name":"FLNC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28356264","30411535","31924696"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Cardiomyopathy, familial hypertrophic, 26","Arrhythmogenic right ventricular cardiomyopathy","Dilated cardiomyopathy"],"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":["FLJ22167","ALYE870","PRO1886","JBTS20","MKS11"],"biotype":"protein_coding","hgnc_id":"HGNC:37234","gene_name":"transmembrane protein 231","omim_gene":["614949"],"alias_name":null,"gene_symbol":"TMEM231","hgnc_symbol":"TMEM231","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:75572015-75590184","ensembl_id":"ENSG00000205084"}},"GRch38":{"90":{"location":"16:75536744-75556286","ensembl_id":"ENSG00000205084"}}},"hgnc_date_symbol_changed":"2009-10-02"},"entity_type":"gene","entity_name":"TMEM231","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23012439","23349226","22179047","30617574","27449316","31663672","25869670"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Joubert syndrome 20, MIM#614970","Meckel syndrome 11, MIM#615397"],"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":["KIAA1395","ZIR1"],"biotype":"protein_coding","hgnc_id":"HGNC:19189","gene_name":"dedicator of cytokinesis 6","omim_gene":["614194"],"alias_name":null,"gene_symbol":"DOCK6","hgnc_symbol":"DOCK6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:11309971-11373157","ensembl_id":"ENSG00000130158"}},"GRch38":{"90":{"location":"19:11199295-11262481","ensembl_id":"ENSG00000130158"}}},"hgnc_date_symbol_changed":"2003-11-19"},"entity_type":"gene","entity_name":"DOCK6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21820096","23522784","25132448","25824905"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Adams-Oliver syndrome 2, MIM# 614219"],"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":["HHG1","SMMCI","TPT","TPTPS","MCOPCB5"],"biotype":"protein_coding","hgnc_id":"HGNC:10848","gene_name":"sonic hedgehog","omim_gene":["600725"],"alias_name":null,"gene_symbol":"SHH","hgnc_symbol":"SHH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:155592680-155604967","ensembl_id":"ENSG00000164690"}},"GRch38":{"90":{"location":"7:155799986-155812273","ensembl_id":"ENSG00000164690"}}},"hgnc_date_symbol_changed":"1995-03-10"},"entity_type":"gene","entity_name":"SHH","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["22897141"],"evidence":["Expert Review Amber","Genomics England PanelApp"],"phenotypes":["Hypopituitarism, MONDO:0005152","Microphthalmia with coloboma 5 (611638)","Holoprosencephaly 3  (142945)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":4523,"hash_id":null,"name":"Adrenal insufficiency","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","description":"This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.","status":"public","version":"0.76","version_created":"2026-03-19T16:21:18.336273+11:00","relevant_disorders":[],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hGCMb"],"biotype":"protein_coding","hgnc_id":"HGNC:4198","gene_name":"glial cells missing homolog 2","omim_gene":["603716"],"alias_name":null,"gene_symbol":"GCM2","hgnc_symbol":"GCM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:10873456-10882174","ensembl_id":"ENSG00000124827"}},"GRch38":{"90":{"location":"6:10873223-10881941","ensembl_id":"ENSG00000124827"}}},"hgnc_date_symbol_changed":"2002-09-27"},"entity_type":"gene","entity_name":"GCM2","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":"Other","publications":["27745835"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Hyperparathyroidism 4, OMIM #617343"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":4526,"hash_id":null,"name":"Hyperparathyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Calcium disorders","description":"This panel contains genes associated with primary hyperparathyroidism \r\n(and includes some cancer predisposition disorders). \r\n\r\nIt includes genes from the Genomics England PanelApp 'familial hyperparathyroidism or hypocalciuric hypercalcaemia' panel V3.6.","status":"public","version":"0.12","version_created":"2026-01-30T09:51:01.481999+11:00","relevant_disorders":[],"stats":{"number_of_genes":6,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TFIID"],"biotype":"protein_coding","hgnc_id":"HGNC:11588","gene_name":"TATA-box binding protein","omim_gene":["600075"],"alias_name":null,"gene_symbol":"TBP","hgnc_symbol":"TBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:170863390-170881958","ensembl_id":"ENSG00000112592"}},"GRch38":{"90":{"location":"6:170554302-170572870","ensembl_id":"ENSG00000112592"}}},"hgnc_date_symbol_changed":"1993-05-26"},"entity_type":"str","entity_name":"TBP_SCA17_CAG","confidence_level":"3","penetrance":null,"publications":["10484774","20301611","29325606"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Spinocerebellar ataxia 17 MIM#607136"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CAG","chromosome":"6","grch37_coordinates":[170870996,170871109],"grch38_coordinates":[170561908,170562021],"normal_repeats":40,"pathogenic_repeats":49,"tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}},{"gene_data":{"alias":["DMK","DM1PK","MDPK","MT-PK"],"biotype":"protein_coding","hgnc_id":"HGNC:2933","gene_name":"DM1 protein kinase","omim_gene":["605377"],"alias_name":["dystrophia myotonica 1","DM protein kinase","myotonin protein kinase A","myotonic dystrophy associated protein kinase","thymopoietin homolog"],"gene_symbol":"DMPK","hgnc_symbol":"DMPK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:46272975-46285810","ensembl_id":"ENSG00000104936"}},"GRch38":{"90":{"location":"19:45769717-45782552","ensembl_id":"ENSG00000104936"}}},"hgnc_date_symbol_changed":"1997-10-10"},"entity_type":"str","entity_name":"DMPK_DM1_CTG","confidence_level":"3","penetrance":null,"publications":["20301344","29325606"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Myotonic dystrophy 1 MIM#160900"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CTG","chromosome":"19","grch37_coordinates":[46273463,46273522],"grch38_coordinates":[45770205,45770264],"normal_repeats":34,"pathogenic_repeats":50,"tags":[],"panel":{"id":3071,"hash_id":null,"name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.65","version_created":"2026-01-21T10:59:30.179226+11:00","relevant_disorders":["Limb-girdle muscular dystrophy","MONDO:0016971; Proximal muscle weakness","HP:0003701; Distal myopathy MONDO:0018949"],"stats":{"number_of_genes":102,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]}}]}