{"count":36078,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=187","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=185","results":[{"gene_data":{"alias":["NFI-L","KIAA1439"],"biotype":"protein_coding","hgnc_id":"HGNC:7784","gene_name":"nuclear factor I A","omim_gene":["600727"],"alias_name":null,"gene_symbol":"NFIA","hgnc_symbol":"NFIA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:61330931-61928465","ensembl_id":"ENSG00000162599"}},"GRch38":{"90":{"location":"1:60865259-61462793","ensembl_id":"ENSG00000162599"}}},"hgnc_date_symbol_changed":"1995-03-09"},"entity_type":"gene","entity_name":"NFIA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27081522","28452798","33973697","36553517"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Brain malformations with or without urinary tract defects, MIM#613735"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":18,"hash_id":null,"name":"Polymicrogyria and Schizencephaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nPlease consider the broader 'Malformations of cortical development' superpanel, particularly in the presence of complex or atypical imaging findings.","status":"public","version":"0.207","version_created":"2026-04-23T11:38:11.019015+10:00","relevant_disorders":["Polymicrogyria","HP:0002126;Schizencephaly","HP:0010636"],"stats":{"number_of_genes":88,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Nav1.1","GEFSP2","HBSCI","NAC1","SMEI"],"biotype":"protein_coding","hgnc_id":"HGNC:10585","gene_name":"sodium voltage-gated channel alpha subunit 1","omim_gene":["182389"],"alias_name":null,"gene_symbol":"SCN1A","hgnc_symbol":"SCN1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:166845670-166984523","ensembl_id":"ENSG00000144285"}},"GRch38":{"90":{"location":"2:165984641-166149214","ensembl_id":"ENSG00000144285"}}},"hgnc_date_symbol_changed":"1988-11-28"},"entity_type":"gene","entity_name":"SCN1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31904117","30498473","30038559","29986598"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Migraine, familial hemiplegic, 3, MIM# 609634"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":40,"hash_id":null,"name":"Alternating Hemiplegia and Hemiplegic Migraine","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH.\r\n\r\nPlease also refer to the Episodic Ataxia and Paroxysmal Dyskinesia panels.","status":"public","version":"1.0","version_created":"2026-03-24T16:22:18.980474+11:00","relevant_disorders":["Hemiplegia","HP:0002301;Migraine","HP:0002076"],"stats":{"number_of_genes":18,"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:2209","gene_name":"collagen type V alpha 1 chain","omim_gene":["120215"],"alias_name":["alpha 1 type V collagen"],"gene_symbol":"COL5A1","hgnc_symbol":"COL5A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:137533620-137736686","ensembl_id":"ENSG00000130635"}},"GRch38":{"90":{"location":"9:134641774-134844843","ensembl_id":"ENSG00000130635"}}},"hgnc_date_symbol_changed":"1992-02-26"},"entity_type":"gene","entity_name":"COL5A1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Ehlers-Danlos syndrome, classic type, MIM# 130000"],"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":["CSA"],"biotype":"protein_coding","hgnc_id":"HGNC:3439","gene_name":"ERCC excision repair 8, CSA ubiquitin ligase complex subunit","omim_gene":["609412"],"alias_name":null,"gene_symbol":"ERCC8","hgnc_symbol":"ERCC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:60169658-60240900","ensembl_id":"ENSG00000049167"}},"GRch38":{"90":{"location":"5:60873831-60945073","ensembl_id":"ENSG00000049167"}}},"hgnc_date_symbol_changed":"1995-02-07"},"entity_type":"gene","entity_name":"ERCC8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26204423","17092472","20522568"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cockayne syndrome, type A, MIM# 216400"],"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":null},{"gene_data":{"alias":["SIGMA1B"],"biotype":"protein_coding","hgnc_id":"HGNC:560","gene_name":"adaptor related protein complex 1 sigma 2 subunit","omim_gene":["300629"],"alias_name":null,"gene_symbol":"AP1S2","hgnc_symbol":"AP1S2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:15843929-15873054","ensembl_id":"ENSG00000182287"}},"GRch38":{"90":{"location":"X:15825806-15854931","ensembl_id":"ENSG00000182287"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP1S2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["19161147","17617514"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Pettigrew syndrome, MIM# 304340"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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. 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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":["merlin","ACN","SCH","BANF"],"biotype":"protein_coding","hgnc_id":"HGNC:7773","gene_name":"neurofibromin 2","omim_gene":["607379"],"alias_name":["moesin-ezrin-radixin like","schwannomin"],"gene_symbol":"NF2","hgnc_symbol":"NF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:29999545-30094587","ensembl_id":"ENSG00000186575"}},"GRch38":{"90":{"location":"22:29603556-29698598","ensembl_id":"ENSG00000186575"}}},"hgnc_date_symbol_changed":"1992-01-01"},"entity_type":"gene","entity_name":"NF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neurofibromatosis, type 2 (MIM# 101000)"],"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. 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If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TRX1","HRX","ALL-1","HTRX1","CXXC7","MLL1A"],"biotype":"protein_coding","hgnc_id":"HGNC:7132","gene_name":"lysine methyltransferase 2A","omim_gene":["159555"],"alias_name":null,"gene_symbol":"KMT2A","hgnc_symbol":"KMT2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118307205-118397539","ensembl_id":"ENSG00000118058"}},"GRch38":{"90":{"location":"11:118436490-118526832","ensembl_id":"ENSG00000118058"}}},"hgnc_date_symbol_changed":"2013-05-09"},"entity_type":"gene","entity_name":"KMT2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33528536"],"evidence":["Expert Review Green","Literature","Expert list"],"phenotypes":["Wiedemann-Steiner syndrome - #605130"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["JTK7","c-ABL","p150"],"biotype":"protein_coding","hgnc_id":"HGNC:76","gene_name":"ABL proto-oncogene 1, non-receptor tyrosine kinase","omim_gene":["189980"],"alias_name":null,"gene_symbol":"ABL1","hgnc_symbol":"ABL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:133589333-133763062","ensembl_id":"ENSG00000097007"}},"GRch38":{"90":{"location":"9:130713946-130887675","ensembl_id":"ENSG00000097007"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ABL1","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["28288113","39155385","38743093"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Congenital heart defects and skeletal malformations syndrome (MIM# 617602)","Human ABL1 Deficiency Syndrome (HADS)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":76,"hash_id":null,"name":"Congenital Heart Defect","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.","status":"public","version":"0.535","version_created":"2026-04-21T11:25:32.018166+10:00","relevant_disorders":["Abnormal heart morphology HP:0001627"],"stats":{"number_of_genes":254,"number_of_strs":1,"number_of_regions":10},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PGA1","APS1"],"biotype":"protein_coding","hgnc_id":"HGNC:360","gene_name":"autoimmune regulator","omim_gene":["607358"],"alias_name":["autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"],"gene_symbol":"AIRE","hgnc_symbol":"AIRE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:45705721-45718531","ensembl_id":"ENSG00000160224"}},"GRch38":{"90":{"location":"21:44285838-44298648","ensembl_id":"ENSG00000160224"}}},"hgnc_date_symbol_changed":"1997-09-05"},"entity_type":"gene","entity_name":"AIRE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9398839","9837820","16965330"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":89,"hash_id":null,"name":"Congenital Diarrhoea","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nCongenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:404","gene_name":"aldehyde dehydrogenase 2 family (mitochondrial)","omim_gene":["100650"],"alias_name":null,"gene_symbol":"ALDH2","hgnc_symbol":"ALDH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:112204691-112247782","ensembl_id":"ENSG00000111275"}},"GRch38":{"90":{"location":"12:111766887-111817529","ensembl_id":"ENSG00000111275"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ALDH2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31368097"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"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:1069","gene_name":"bone morphogenetic protein 2","omim_gene":["112261"],"alias_name":null,"gene_symbol":"BMP2","hgnc_symbol":"BMP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:6748311-6760927","ensembl_id":"ENSG00000125845"}},"GRch38":{"90":{"location":"20:6767664-6780280","ensembl_id":"ENSG00000125845"}}},"hgnc_date_symbol_changed":"1990-06-11"},"entity_type":"gene","entity_name":"BMP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29198724"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877"],"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. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:652","gene_name":"ADP ribosylation factor 1","omim_gene":["103180"],"alias_name":null,"gene_symbol":"ARF1","hgnc_symbol":"ARF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:228270361-228286912","ensembl_id":"ENSG00000143761"}},"GRch38":{"90":{"location":"1:228082660-228099212","ensembl_id":"ENSG00000143761"}}},"hgnc_date_symbol_changed":"1992-07-09"},"entity_type":"gene","entity_name":"ARF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28868155","34353862","36345169","37914730"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Periventricular nodular heterotopia 8, MIM# 618185","Type 1 interferrinopathy of childhood, MONDO:0957408, ARF1 related"],"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":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"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":["HSPOX1"],"biotype":"protein_coding","hgnc_id":"HGNC:17325","gene_name":"proline dehydrogenase 2","omim_gene":["616377"],"alias_name":null,"gene_symbol":"PRODH2","hgnc_symbol":"PRODH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:36290890-36304201","ensembl_id":"ENSG00000250799"}},"GRch38":{"90":{"location":"19:35799988-35813299","ensembl_id":"ENSG00000250799"}}},"hgnc_date_symbol_changed":"2002-01-03"},"entity_type":"gene","entity_name":"PRODH2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["27139199"],"evidence":["Expert Review Red","ClinGen"],"phenotypes":["hydroxyprolinemia MONDO:0009374"],"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":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"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":["STAG1"],"biotype":"protein_coding","hgnc_id":"HGNC:14107","gene_name":"prostate transmembrane protein, androgen induced 1","omim_gene":["606564"],"alias_name":["solid tumor-associated 1"],"gene_symbol":"PMEPA1","hgnc_symbol":"PMEPA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:56223448-56286592","ensembl_id":"ENSG00000124225"}},"GRch38":{"90":{"location":"20:57648392-57711536","ensembl_id":"ENSG00000124225"}}},"hgnc_date_symbol_changed":"2008-04-03"},"entity_type":"gene","entity_name":"PMEPA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["PMID: 36928819"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hereditary disorder of connective tissue, MONDO:0023603, PMEPA1-related"],"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":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"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":["XH2","XNP"],"biotype":"protein_coding","hgnc_id":"HGNC:886","gene_name":"ATRX, chromatin remodeler","omim_gene":["300032","300504"],"alias_name":["RAD54 homolog (S. cerevisiae)"],"gene_symbol":"ATRX","hgnc_symbol":"ATRX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:76760356-77041702","ensembl_id":"ENSG00000085224"}},"GRch38":{"90":{"location":"X:77504878-77786269","ensembl_id":"ENSG00000085224"}}},"hgnc_date_symbol_changed":"1992-11-27"},"entity_type":"gene","entity_name":"ATRX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["ATR-X-related syndrome MONDO:0016980"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NOP5","HSPC120"],"biotype":"protein_coding","hgnc_id":"HGNC:29926","gene_name":"NOP58 ribonucleoprotein","omim_gene":["616742"],"alias_name":null,"gene_symbol":"NOP58","hgnc_symbol":"NOP58","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:203130439-203168389","ensembl_id":"ENSG00000055044"}},"GRch38":{"90":{"location":"2:202265716-202303666","ensembl_id":"ENSG00000055044"}}},"hgnc_date_symbol_changed":"2009-01-13"},"entity_type":"gene","entity_name":"NOP58","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["41383020"],"evidence":["Expert Review Red","Literature","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, NOP58-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":["LH-2","hLhx2"],"biotype":"protein_coding","hgnc_id":"HGNC:6594","gene_name":"LIM homeobox 2","omim_gene":["603759"],"alias_name":null,"gene_symbol":"LHX2","hgnc_symbol":"LHX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:126763949-126795580","ensembl_id":"ENSG00000106689"}},"GRch38":{"90":{"location":"9:124001670-124033301","ensembl_id":"ENSG00000106689"}}},"hgnc_date_symbol_changed":"1999-04-15"},"entity_type":"gene","entity_name":"LHX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37057675"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO: 0700092)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["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":["23553484"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Central core disease (MIM#117000)","Minicore myopathy with external ophthalmoplegia (MIM#255320)","Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Ckb1","Ckb2"],"biotype":"protein_coding","hgnc_id":"HGNC:2460","gene_name":"casein kinase 2 beta","omim_gene":["115441"],"alias_name":null,"gene_symbol":"CSNK2B","hgnc_symbol":"CSNK2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31633013-31638120","ensembl_id":"ENSG00000204435"}},"GRch38":{"90":{"location":"6:31665236-31670343","ensembl_id":"ENSG00000204435"}}},"hgnc_date_symbol_changed":"1990-05-23"},"entity_type":"gene","entity_name":"CSNK2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34041744","28585349","28762608"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732"],"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":"1.410","version_created":"2026-04-24T13:36:55.078812+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":["DKFZp727A071"],"biotype":"protein_coding","hgnc_id":"HGNC:30563","gene_name":"prolyl-tRNA synthetase 2, mitochondrial","omim_gene":["612036"],"alias_name":["proline tRNA ligase 2, mitochondrial (putative)"],"gene_symbol":"PARS2","hgnc_symbol":"PARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:55222571-55230187","ensembl_id":"ENSG00000162396"}},"GRch38":{"90":{"location":"1:54756898-54764514","ensembl_id":"ENSG00000162396"}}},"hgnc_date_symbol_changed":"2005-07-05"},"entity_type":"gene","entity_name":"PARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29410512","28077841","25629079","29915213"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Epileptic encephalopathy, early infantile, 75, MIM# 618437"],"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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6595","gene_name":"LIM homeobox 3","omim_gene":["600577"],"alias_name":null,"gene_symbol":"LHX3","hgnc_symbol":"LHX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139088096-139096955","ensembl_id":"ENSG00000107187"}},"GRch38":{"90":{"location":"9:136196250-136205109","ensembl_id":"ENSG00000107187"}}},"hgnc_date_symbol_changed":"2000-03-22"},"entity_type":"gene","entity_name":"LHX3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Pituitary hormone deficiency, combined, 3, MIM# 221750"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["H3.3B"],"biotype":"protein_coding","hgnc_id":"HGNC:4765","gene_name":"H3 histone family member 3B","omim_gene":["601058"],"alias_name":null,"gene_symbol":"H3F3B","hgnc_symbol":"H3F3B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:73772515-73781974","ensembl_id":"ENSG00000132475"}},"GRch38":{"90":{"location":"17:75776434-75785893","ensembl_id":"ENSG00000132475"}}},"hgnc_date_symbol_changed":"1995-10-02"},"entity_type":"gene","entity_name":"H3F3B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33268356"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Bryant-Li-Bhoj neurodevelopmental syndrome 2 MIM#619721"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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 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mitochondrial"],"gene_symbol":"PDHA1","hgnc_symbol":"PDHA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:19362011-19379823","ensembl_id":"ENSG00000131828"}},"GRch38":{"90":{"location":"X:19343893-19361705","ensembl_id":"ENSG00000131828"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"PDHA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["36693417","33661577"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Primary Pyruvate Dehydrogenase Complex Deficiency MIM 312170"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"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:4878","gene_name":"hexosaminidase subunit alpha","omim_gene":["606869"],"alias_name":["Tay Sachs disease","GM2 gangliosidosis","beta-hexosaminidase subunit alpha"],"gene_symbol":"HEXA","hgnc_symbol":"HEXA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:72635775-72668817","ensembl_id":"ENSG00000213614"}},"GRch38":{"90":{"location":"15:72340919-72376476","ensembl_id":"ENSG00000213614"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HEXA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17015493","18642377","3159334","1838393"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Usually infantile-onset, developmental delay and cognitive decline, visual loss (‘cherry red spot’), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described","Tay-Sachs disease"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"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":["FLJ12525"],"biotype":"protein_coding","hgnc_id":"HGNC:25726","gene_name":"LAS1 like, ribosome biogenesis factor","omim_gene":["300964"],"alias_name":null,"gene_symbol":"LAS1L","hgnc_symbol":"LAS1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:64732462-64754655","ensembl_id":"ENSG00000001497"}},"GRch38":{"90":{"location":"X:65512582-65534775","ensembl_id":"ENSG00000001497"}}},"hgnc_date_symbol_changed":"2005-01-26"},"entity_type":"gene","entity_name":"LAS1L","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["24647030"],"evidence":["Expert Review","Expert Review 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neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1062","gene_name":"biliverdin reductase A","omim_gene":["109750"],"alias_name":null,"gene_symbol":"BLVRA","hgnc_symbol":"BLVRA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:43798279-43846939","ensembl_id":"ENSG00000106605"}},"GRch38":{"90":{"location":"7:43758680-43807342","ensembl_id":"ENSG00000106605"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"BLVRA","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["19580635, 21278388"],"evidence":["Expert Review Amber"],"phenotypes":["Disorders of haem degradation and bilirubin metabolism","hyperbiliverdinemia MONDO:0013595"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3077,"hash_id":null,"name":"Haem degradation and bilirubin metabolism defects","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause disorders of tetrapyrroles, including porphyria and disorders of bilirubin metabolism and biliary transport. \r\n\r\nThis panel is part of the Metabolic Disorders Superpanl. It was developed and maintained by RMH, and is a consensus panel used by VCGS.","status":"public","version":"0.20","version_created":"2026-02-22T15:38:52.606788+11:00","relevant_disorders":["Porphyria","MONDO:0037939;Abnormal circulating porphyrin concentration","HP:0010472;Hyperbilirubinemia","HP:0002904"],"stats":{"number_of_genes":25,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BMD","DXS142","DXS164","DXS206","DXS230","DXS239","DXS268","DXS269","DXS270","DXS272"],"biotype":"protein_coding","hgnc_id":"HGNC:2928","gene_name":"dystrophin","omim_gene":["300377"],"alias_name":["muscular dystrophy, Duchenne and Becker types"],"gene_symbol":"DMD","hgnc_symbol":"DMD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:31115794-33357558","ensembl_id":"ENSG00000198947"}},"GRch38":{"90":{"location":"X:31097677-33339441","ensembl_id":"ENSG00000198947"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"DMD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301298"],"evidence":["Expert Review Green","Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Becker muscular dystrophy 300376"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":3084,"hash_id":null,"name":"Rhabdomyolysis and Metabolic Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nDepending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.46","version_created":"2026-03-31T19:05:14.301918+11:00","relevant_disorders":["Rhabdomyolysis","HP:0003201;Exercise intolerance","HP:0003546;Metabolic myopathy","MONDO:0020123"],"stats":{"number_of_genes":124,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ERFS","HBS1","HSPC276","KIAA1038","DKFZp434g247","EF-1a","eRF3c"],"biotype":"protein_coding","hgnc_id":"HGNC:4834","gene_name":"HBS1 like translational GTPase","omim_gene":["612450"],"alias_name":["eRF3 family member"],"gene_symbol":"HBS1L","hgnc_symbol":"HBS1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:135281516-135424194","ensembl_id":"ENSG00000112339"}},"GRch38":{"90":{"location":"6:134960378-135103056","ensembl_id":"ENSG00000112339"}}},"hgnc_date_symbol_changed":"2000-02-18"},"entity_type":"gene","entity_name":"HBS1L","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["38966981","24288412","30707697"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Retinal disorder MONDO:0005283"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"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":[]},{"gene_data":{"alias":["ENT3","FLJ11160"],"biotype":"protein_coding","hgnc_id":"HGNC:23096","gene_name":"solute carrier family 29 member 3","omim_gene":["612373"],"alias_name":null,"gene_symbol":"SLC29A3","hgnc_symbol":"SLC29A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:73079015-73123142","ensembl_id":"ENSG00000198246"}},"GRch38":{"90":{"location":"10:71319258-71363385","ensembl_id":"ENSG00000198246"}}},"hgnc_date_symbol_changed":"2003-10-08"},"entity_type":"gene","entity_name":"SLC29A3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Amber","Literature","Expert list"],"phenotypes":["Histiocytosis-lymphadenopathy plus syndrome - MIM#602782"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3114,"hash_id":null,"name":"Stickler Syndrome","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This is a consensus panel between VCGS and RMH.\r\n\r\nThis panel contains genes associated with Stickler syndrome, a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis.\r\n\r\nThe features of Stickler syndrome can be highly variable. Consider applying the Vitreoretinopathy, Deafness, Skeletal Dysplasia and Pierre Robin sequence panels if features are not entirely typical.","status":"public","version":"1.12","version_created":"2025-10-24T18:06:37.494562+11:00","relevant_disorders":["Myopia","HP:0000545; Retinal detachment","HP:0000541; Cleft palate","HP:0000175"],"stats":{"number_of_genes":10,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ12229","COQ8"],"biotype":"protein_coding","hgnc_id":"HGNC:19041","gene_name":"coenzyme Q8B","omim_gene":["615567"],"alias_name":null,"gene_symbol":"COQ8B","hgnc_symbol":"COQ8B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:41197434-41224112","ensembl_id":"ENSG00000123815"}},"GRch38":{"90":{"location":"19:40691529-40718207","ensembl_id":"ENSG00000123815"}}},"hgnc_date_symbol_changed":"2016-07-07"},"entity_type":"gene","entity_name":"COQ8B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Nephrotic syndrome, type 9, 615573 (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":["FLJ20371","MFSD7C"],"biotype":"protein_coding","hgnc_id":"HGNC:20105","gene_name":"feline leukemia virus subgroup C cellular receptor family member 2","omim_gene":["610865"],"alias_name":null,"gene_symbol":"FLVCR2","hgnc_symbol":"FLVCR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:76044960-76129557","ensembl_id":"ENSG00000119686"}},"GRch38":{"90":{"location":"14:75578617-75663214","ensembl_id":"ENSG00000119686"}}},"hgnc_date_symbol_changed":"2007-05-01"},"entity_type":"gene","entity_name":"FLVCR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790 (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":["SemB","FLJ12287","CORD10"],"biotype":"protein_coding","hgnc_id":"HGNC:10729","gene_name":"semaphorin 4A","omim_gene":["607292"],"alias_name":null,"gene_symbol":"SEMA4A","hgnc_symbol":"SEMA4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:156117157-156147543","ensembl_id":"ENSG00000196189"}},"GRch38":{"90":{"location":"1:156147366-156177752","ensembl_id":"ENSG00000196189"}}},"hgnc_date_symbol_changed":"2004-04-22"},"entity_type":"gene","entity_name":"SEMA4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Cone-rod dystrophy 10, 610283 (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":["FLJ20459"],"biotype":"protein_coding","hgnc_id":"HGNC:28883","gene_name":"pyrophosphatase (inorganic) 2","omim_gene":["609988"],"alias_name":null,"gene_symbol":"PPA2","hgnc_symbol":"PPA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:106290234-106395238","ensembl_id":"ENSG00000138777"}},"GRch38":{"90":{"location":"4:105369077-105474081","ensembl_id":"ENSG00000138777"}}},"hgnc_date_symbol_changed":"2005-10-07"},"entity_type":"gene","entity_name":"PPA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27523598","34400813"],"evidence":["Expert Review Green","London South GLH","NHS GMS"],"phenotypes":["Sudden cardiac failure, alcohol-induced, 617223","Sudden cardiac failure, infantile, 617222"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OCTN2","SCD"],"biotype":"protein_coding","hgnc_id":"HGNC:10969","gene_name":"solute carrier family 22 member 5","omim_gene":["603377"],"alias_name":null,"gene_symbol":"SLC22A5","hgnc_symbol":"SLC22A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:131705444-131731306","ensembl_id":"ENSG00000197375"}},"GRch38":{"90":{"location":"5:132369752-132395614","ensembl_id":"ENSG00000197375"}}},"hgnc_date_symbol_changed":"1998-07-16"},"entity_type":"gene","entity_name":"SLC22A5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24816252","27604308","22989098","18337137","27807682"],"evidence":["Expert Review Green","MetBioNet","South West GLH","NHS GMS"],"phenotypes":["Carnitine deficiency, systemic primary MIM#212140"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. 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Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","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":["FLJ23590"],"biotype":"protein_coding","hgnc_id":"HGNC:966","gene_name":"Bardet-Biedl syndrome 1","omim_gene":["209901"],"alias_name":null,"gene_symbol":"BBS1","hgnc_symbol":"BBS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:66278077-66301098","ensembl_id":"ENSG00000174483"}},"GRch38":{"90":{"location":"11:66510606-66533627","ensembl_id":"ENSG00000174483"}}},"hgnc_date_symbol_changed":"1994-01-28"},"entity_type":"gene","entity_name":"BBS1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Bardet-Biedl syndrome 1, MIM# 209900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FZD11"],"biotype":"protein_coding","hgnc_id":"HGNC:11119","gene_name":"smoothened, frizzled class receptor","omim_gene":["601500"],"alias_name":["frizzled family member 11"],"gene_symbol":"SMO","hgnc_symbol":"SMO","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:128828713-128853386","ensembl_id":"ENSG00000128602"}},"GRch38":{"90":{"location":"7:129188872-129213545","ensembl_id":"ENSG00000128602"}}},"hgnc_date_symbol_changed":"2003-01-17"},"entity_type":"gene","entity_name":"SMO","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Medulloblastoma"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CHAK2","FLJ22628"],"biotype":"protein_coding","hgnc_id":"HGNC:17995","gene_name":"transient receptor potential cation channel subfamily M member 6","omim_gene":["607009"],"alias_name":null,"gene_symbol":"TRPM6","hgnc_symbol":"TRPM6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:77337411-77503010","ensembl_id":"ENSG00000119121"}},"GRch38":{"90":{"location":"9:74722495-74888094","ensembl_id":"ENSG00000119121"}}},"hgnc_date_symbol_changed":"2002-01-11"},"entity_type":"gene","entity_name":"TRPM6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21669885"],"evidence":["Expert Review Green","KidGen_Magnesium v38.1.0","Expert Review Green","KidGen_Magnesium v38.1.0"],"phenotypes":["Hypomagnesaemia 1, intestinal (MIM#602014)"],"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":["HI","PHHI","SUR1","MRP8","ABC36","HHF1","TNDM2"],"biotype":"protein_coding","hgnc_id":"HGNC:59","gene_name":"ATP binding cassette subfamily C member 8","omim_gene":["600509"],"alias_name":["sulfonylurea receptor (hyperinsulinemia)"],"gene_symbol":"ABCC8","hgnc_symbol":"ABCC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:17414432-17498449","ensembl_id":"ENSG00000006071"}},"GRch38":{"90":{"location":"11:17392885-17476845","ensembl_id":"ENSG00000006071"}}},"hgnc_date_symbol_changed":"1995-01-10"},"entity_type":"gene","entity_name":"ABCC8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":[],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Diabetes mellitus, permanent neonatal, 6","Hyperinsulinemic hypoglycemia, familial, 1, 256450","DIABETES MELLITUS, NONINSULIN-DEPENDENT","transient neonatal diabetes (Dominant)","Transient Neonatal Diabetes, Dominant","Diabetes mellitus, transient neonatal 2,  610374","Permanent Neonatal Diabetes Mellitus","Hypoglycemia of infancy, leucine-sensitive, 240800","Permanent Neonatal Diabetes Mellitus (recessive)","Diabetes mellitus, noninsulin-dependent, 125853","Permanent neonatal diabetes mellitus","Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2,  610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LGMD2I","MDC1C"],"biotype":"protein_coding","hgnc_id":"HGNC:17997","gene_name":"fukutin related protein","omim_gene":["606596"],"alias_name":null,"gene_symbol":"FKRP","hgnc_symbol":"FKRP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:47249303-47280245","ensembl_id":"ENSG00000181027"}},"GRch38":{"90":{"location":"19:46746046-46776988","ensembl_id":"ENSG00000181027"}}},"hgnc_date_symbol_changed":"2003-12-04"},"entity_type":"gene","entity_name":"FKRP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["PMID: 32914449"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC33302"],"biotype":"protein_coding","hgnc_id":"HGNC:28486","gene_name":"major facilitator superfamily domain containing 8","omim_gene":["611124"],"alias_name":null,"gene_symbol":"MFSD8","hgnc_symbol":"MFSD8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:128838960-128887150","ensembl_id":"ENSG00000164073"}},"GRch38":{"90":{"location":"4:127917732-127966034","ensembl_id":"ENSG00000164073"}}},"hgnc_date_symbol_changed":"2007-02-19"},"entity_type":"gene","entity_name":"MFSD8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17564970","19201763","25227500","30382371","35154277"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 7, MIM# 610951","MONDO:0012588"],"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":"2.1","version_created":"2026-04-24T17:01:18.976102+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":["GLYT2"],"biotype":"protein_coding","hgnc_id":"HGNC:11051","gene_name":"solute carrier family 6 member 5","omim_gene":["604159"],"alias_name":["glycine transporter 2"],"gene_symbol":"SLC6A5","hgnc_symbol":"SLC6A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:20620946-20680831","ensembl_id":"ENSG00000165970"}},"GRch38":{"90":{"location":"11:20599400-20659285","ensembl_id":"ENSG00000165970"}}},"hgnc_date_symbol_changed":"1997-12-05"},"entity_type":"gene","entity_name":"SLC6A5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31604777","30847549","29859229","16751771"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hyperekplexia 3, MIM#614618"],"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":"2.1","version_created":"2026-04-24T17:01:18.976102+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":["CTNS-LSB","PQLC4"],"biotype":"protein_coding","hgnc_id":"HGNC:2518","gene_name":"cystinosin, lysosomal cystine transporter","omim_gene":["606272"],"alias_name":null,"gene_symbol":"CTNS","hgnc_symbol":"CTNS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:3539762-3564836","ensembl_id":"ENSG00000040531"}},"GRch38":{"90":{"location":"17:3636468-3661542","ensembl_id":"ENSG00000040531"}}},"hgnc_date_symbol_changed":"1998-07-15"},"entity_type":"gene","entity_name":"CTNS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26523297","20301574","25165189","9537412","10625078","30554218","12370309"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Cystinosis, nephropathic MIM#219800"],"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":"2.1","version_created":"2026-04-24T17:01:18.976102+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":["FLJ32915"],"biotype":"protein_coding","hgnc_id":"HGNC:26558","gene_name":"HYLS1, centriolar and ciliogenesis associated","omim_gene":["610693"],"alias_name":null,"gene_symbol":"HYLS1","hgnc_symbol":"HYLS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:125753509-125770543","ensembl_id":"ENSG00000198331"}},"GRch38":{"90":{"location":"11:125883614-125900648","ensembl_id":"ENSG00000198331"}}},"hgnc_date_symbol_changed":"2005-05-04"},"entity_type":"gene","entity_name":"HYLS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15843405","18648327","19400947","19656802","32509774","39626953","26830932"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hydrolethalus syndrome (MIM#236680)","Ciliopathy"],"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":"2.1","version_created":"2026-04-24T17:01:18.976102+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":["D22S674"],"biotype":"protein_coding","hgnc_id":"HGNC:7631","gene_name":"alpha-N-acetylgalactosaminidase","omim_gene":["104170"],"alias_name":null,"gene_symbol":"NAGA","hgnc_symbol":"NAGA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:42454358-42466846","ensembl_id":"ENSG00000198951"}},"GRch38":{"90":{"location":"22:42058354-42070842","ensembl_id":"ENSG00000198951"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"NAGA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11313741","31468281","15619430","8782044"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Schindler disease, type I MIM#609241","Schindler disease, type III MIM#609241"],"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":"2.1","version_created":"2026-04-24T17:01:18.976102+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":["RECQL2","RECQ3"],"biotype":"protein_coding","hgnc_id":"HGNC:12791","gene_name":"Werner syndrome RecQ like helicase","omim_gene":["604611"],"alias_name":null,"gene_symbol":"WRN","hgnc_symbol":"WRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:30891317-31031285","ensembl_id":"ENSG00000165392"}},"GRch38":{"90":{"location":"8:31033801-31173769","ensembl_id":"ENSG00000165392"}}},"hgnc_date_symbol_changed":"1991-08-21"},"entity_type":"gene","entity_name":"WRN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Sarcoma, MONDO:0005089","Werner syndrome, MONDO:0010196","Werner syndrome, MIM#277700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4359,"hash_id":null,"name":"Sarcoma non-soft tissue","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with non-soft tissue sarcoma. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with non-soft tissue sarcoma and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.1","version_created":"2024-11-01T16:35:25.287340+11:00","relevant_disorders":[],"stats":{"number_of_genes":7,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["NOTCH2NLC"],"biotype":"gene with protein product","hgnc_id":"HGNC:53924","gene_name":"Notch 2 N-Terminal Like C","omim_gene":["618025"],"alias_name":["notch 2 N-terminal like C"],"gene_symbol":"NOTCH2NLC","hgnc_symbol":"NOTCH2NLC","hgnc_release":"2000-01-01","ensembl_genes":{"GRch37":{"82":{"location":"1:150077036-150158248","ensembl_id":"ENSG00000286219"}},"GRch38":{"90":{"location":"1:149390621-149471833","ensembl_id":"ENSG00000286219"}}},"hgnc_date_symbol_changed":"2000-01-01"},"entity_type":"str","entity_name":"NOTCH2NLC_NIID_GGC","confidence_level":"3","penetrance":null,"publications":["31178126","31332381","31819945","33887199","33943039","32250060","31332380","32852534","32989102","34333668"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neuronal intranuclear inclusion disease MIM#603472","Oculopharyngodistal myopathy 3 MIM#619473","Tremor, hereditary essential, 6 MIM#618866"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"GGC","chromosome":"1","grch37_coordinates":[145209324,145209344],"grch38_coordinates":[149390803,149390829],"normal_repeats":40,"pathogenic_repeats":60,"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":["E46L","FLJ37990"],"biotype":"protein_coding","hgnc_id":"HGNC:10549","gene_name":"ataxin 10","omim_gene":["611150"],"alias_name":null,"gene_symbol":"ATXN10","hgnc_symbol":"ATXN10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:46067678-46241187","ensembl_id":"ENSG00000130638"}},"GRch38":{"90":{"location":"22:45671798-45845307","ensembl_id":"ENSG00000130638"}}},"hgnc_date_symbol_changed":"2004-08-12"},"entity_type":"str","entity_name":"ATXN10_SCA10_ATTCT","confidence_level":"3","penetrance":null,"publications":["20301354"],"evidence":["Expert Review Green","Expert List"],"phenotypes":["Spinocerebellar ataxia 10 MIM#603516"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"ATTCT","chromosome":"22","grch37_coordinates":[46191235,46191304],"grch38_coordinates":[45795355,45795424],"normal_repeats":32,"pathogenic_repeats":800,"tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]}},{"gene_data":{"alias":["ATX2"],"biotype":"protein_coding","hgnc_id":"HGNC:10555","gene_name":"ataxin 2","omim_gene":["601517"],"alias_name":["trinucleotide repeat containing 13"],"gene_symbol":"ATXN2","hgnc_symbol":"ATXN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:111890018-112037480","ensembl_id":"ENSG00000204842"}},"GRch38":{"90":{"location":"12:111452214-111599676","ensembl_id":"ENSG00000204842"}}},"hgnc_date_symbol_changed":"2004-08-13"},"entity_type":"str","entity_name":"ATXN2_SCA2_CAG","confidence_level":"3","penetrance":null,"publications":["8896555","29325606","20301452"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Spinocerebellar ataxia 2 MIM#183090"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CAG","chromosome":"12","grch37_coordinates":[112036755,112036823],"grch38_coordinates":[111598951,111599019],"normal_repeats":31,"pathogenic_repeats":35,"tags":["adult-onset","paediatric-onset"],"panel":{"id":3597,"hash_id":null,"name":"Repeat Disorders","disease_group":"","disease_sub_group":"","description":"This panel contains reported short tandem repeat (STR) expansion disorders. The naming convention of the STRs is based on the name of the condition or fragile site that the expansion is associated with. \r\nThe panel was developed by RMH and WEHI, and is maintained by RMH.\r\n\r\nThis panel is used as a research panel by the Australian Genomics Acute Care study.","status":"public","version":"0.272","version_created":"2026-01-02T15:16:39.779953+11:00","relevant_disorders":[],"stats":{"number_of_genes":0,"number_of_strs":76,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]}}]}