{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=42","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=40","results":[{"gene_data":{"alias":["FLJ30899","dJ310J6.1","FLJ34235","bA57L9.1","BROMI"],"biotype":"protein_coding","hgnc_id":"HGNC:21485","gene_name":"TBC1 domain family member 32","omim_gene":["615867"],"alias_name":["broad-minded homolog"],"gene_symbol":"TBC1D32","hgnc_symbol":"TBC1D32","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:121400640-121655891","ensembl_id":"ENSG00000146350"}},"GRch38":{"90":{"location":"6:121079494-121334745","ensembl_id":"ENSG00000146350"}}},"hgnc_date_symbol_changed":"2013-07-10"},"entity_type":"gene","entity_name":"TBC1D32","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31130284","36826837","32573025"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Alsahan-Harris syndrome, 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It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.","status":"public","version":"1.141","version_created":"2026-03-17T18:48:23.244194+11:00","relevant_disorders":["Abnormality of multiple cell lineages of the bone marrow","HP:0012145"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp586J0619","KIAA1440","INT1","NET28"],"biotype":"protein_coding","hgnc_id":"HGNC:24555","gene_name":"integrator complex subunit 1","omim_gene":["611345"],"alias_name":null,"gene_symbol":"INTS1","hgnc_symbol":"INTS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:1509913-1545489","ensembl_id":"ENSG00000164880"}},"GRch38":{"90":{"location":"7:1470277-1504367","ensembl_id":"ENSG00000164880"}}},"hgnc_date_symbol_changed":"2006-03-15"},"entity_type":"gene","entity_name":"INTS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28542170","30622326","31428919"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. 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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":[]},{"gene_data":{"alias":["FSP1","AD-FSP"],"biotype":"protein_coding","hgnc_id":"HGNC:11231","gene_name":"atlastin GTPase 1","omim_gene":["606439"],"alias_name":["atlastin"],"gene_symbol":"ATL1","hgnc_symbol":"ATL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:50999227-51099786","ensembl_id":"ENSG00000198513"}},"GRch38":{"90":{"location":"14:50532509-50633068","ensembl_id":"ENSG00000198513"}}},"hgnc_date_symbol_changed":"2008-09-17"},"entity_type":"gene","entity_name":"ATL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 32989326","33528536","34321325"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cerebral palsy","Spastic paraplegia 3A, autosomal dominant (OMIM 182600 )"],"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. 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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 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It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.","status":"public","version":"1.85","version_created":"2026-04-07T13:46:55.940488+10:00","relevant_disorders":["Craniosynostosis HP:0001363"],"stats":{"number_of_genes":105,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC10561"],"biotype":"protein_coding","hgnc_id":"HGNC:1552","gene_name":"chromobox 2","omim_gene":["602770"],"alias_name":["Pc class homolog (Drosophila)"],"gene_symbol":"CBX2","hgnc_symbol":"CBX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:77751931-77761782","ensembl_id":"ENSG00000173894"}},"GRch38":{"90":{"location":"17:79778132-79787983","ensembl_id":"ENSG00000173894"}}},"hgnc_date_symbol_changed":"1994-05-25"},"entity_type":"gene","entity_name":"CBX2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["19361780","31719618","23219007"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["46XY sex reversal 5, MIM# 613080"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":99,"hash_id":null,"name":"Differences of Sex Development","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.47","version_created":"2026-04-06T10:50:25.990411+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":141,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Crescerin-1","crescerin"],"biotype":"protein_coding","hgnc_id":"HGNC:19959","gene_name":"TOG array regulator of axonemal microtubules 1","omim_gene":["617618"],"alias_name":["crescerin"],"gene_symbol":"TOGARAM1","hgnc_symbol":"TOGARAM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:45431411-45543634","ensembl_id":"ENSG00000198718"}},"GRch38":{"90":{"location":"14:44962208-45074431","ensembl_id":"ENSG00000198718"}}},"hgnc_date_symbol_changed":"2017-01-13"},"entity_type":"gene","entity_name":"TOGARAM1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["32747439"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Cleft of the lip and palate","Microphthalmia","Cerebral dysgenesis","Hydrocephalus"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":115,"hash_id":null,"name":"Hydrocephalus_Ventriculomegaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.","status":"public","version":"0.134","version_created":"2026-01-28T12:49:29.963583+11:00","relevant_disorders":["Hydrocephalus","HP:0000238; Ventriculomegaly","HP:0002119"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC35261","NYSAR97"],"biotype":"protein_coding","hgnc_id":"HGNC:28570","gene_name":"PIH1 domain containing 3","omim_gene":["300933"],"alias_name":["sarcoma antigen NY-SAR-97"],"gene_symbol":"PIH1D3","hgnc_symbol":"PIH1D3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:106449862-106487473","ensembl_id":"ENSG00000080572"}},"GRch38":{"90":{"location":"X:107206632-107244243","ensembl_id":"ENSG00000080572"}}},"hgnc_date_symbol_changed":"2012-07-18"},"entity_type":"gene","entity_name":"PIH1D3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28041644","24421334","28176794"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 36, X-linked (MIM#300991)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["new gene name"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CTLN1"],"biotype":"protein_coding","hgnc_id":"HGNC:758","gene_name":"argininosuccinate synthase 1","omim_gene":["603470"],"alias_name":null,"gene_symbol":"ASS1","hgnc_symbol":"ASS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:133320316-133376661","ensembl_id":"ENSG00000130707"}},"GRch38":{"90":{"location":"9:130444929-130501274","ensembl_id":"ENSG00000130707"}}},"hgnc_date_symbol_changed":"2006-08-24"},"entity_type":"gene","entity_name":"ASS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19006241"],"evidence":["Expert Review Green","NHS GMS","Victorian Clinical Genetics Services"],"phenotypes":["Citrullinemia MIM#215700","Urea cycle disorders and inherited hyperammonaemias","disorder of amino acid metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1283","VIP","K-CAP"],"biotype":"protein_coding","hgnc_id":"HGNC:23228","gene_name":"C3 and PZP like, alpha-2-macroglobulin domain containing 8","omim_gene":["608841"],"alias_name":null,"gene_symbol":"CPAMD8","hgnc_symbol":"CPAMD8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:17003758-17137625","ensembl_id":"ENSG00000160111"}},"GRch38":{"90":{"location":"19:16892947-17026815","ensembl_id":"ENSG00000160111"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"CPAMD8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32274568"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Anterior segment dysgenesis 8, MIM# 617319"],"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. 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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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2555","gene_name":"cullin 4B","omim_gene":["300304"],"alias_name":null,"gene_symbol":"CUL4B","hgnc_symbol":"CUL4B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:119658464-119709649","ensembl_id":"ENSG00000158290"}},"GRch38":{"90":{"location":"X:120524609-120575794","ensembl_id":"ENSG00000158290"}}},"hgnc_date_symbol_changed":"1998-10-29"},"entity_type":"gene","entity_name":"CUL4B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17236139","19377476"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Intellectual developmental disorder, X-linked syndromic, Cabezas type, MIM#300354"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["dJ20C7.5"],"biotype":"protein_coding","hgnc_id":"HGNC:21024","gene_name":"cullin 7","omim_gene":["609577"],"alias_name":null,"gene_symbol":"CUL7","hgnc_symbol":"CUL7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:43005355-43021683","ensembl_id":"ENSG00000044090"}},"GRch38":{"90":{"location":"6:43037617-43053945","ensembl_id":"ENSG00000044090"}}},"hgnc_date_symbol_changed":"2004-03-22"},"entity_type":"gene","entity_name":"CUL7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16142236","19225462","17675530"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["3-M syndrome 1, MIM# 273750","Yakut short stature syndrome"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Dnahc5","HL1","PCD","CILD3","KTGNR"],"biotype":"protein_coding","hgnc_id":"HGNC:2950","gene_name":"dynein axonemal heavy chain 5","omim_gene":["603335"],"alias_name":["dynein heavy chain 5"],"gene_symbol":"DNAH5","hgnc_symbol":"DNAH5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:13690440-13944652","ensembl_id":"ENSG00000039139"}},"GRch38":{"90":{"location":"5:13690331-13944543","ensembl_id":"ENSG00000039139"}}},"hgnc_date_symbol_changed":"1995-11-15"},"entity_type":"gene","entity_name":"DNAH5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16627867"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7765","gene_name":"neurofibromin 1","omim_gene":["613113"],"alias_name":["neurofibromatosis","von Recklinghausen disease","Watson disease"],"gene_symbol":"NF1","hgnc_symbol":"NF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:29421945-29709134","ensembl_id":"ENSG00000196712"}},"GRch38":{"90":{"location":"17:31094927-31382116","ensembl_id":"ENSG00000196712"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"NF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Leukemia, juvenile myelomonocytic 607785","Neurofibromatosis, familial spinal 162210","Neurofibromatosis, type 1 162200","Neurofibromatosis-Noonan syndrome 601321","Watson syndrome 193520"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CAP2"],"biotype":"protein_coding","hgnc_id":"HGNC:8952","gene_name":"serpin family B member 8","omim_gene":["601697"],"alias_name":["cytoplasmic antiproteinase 2"],"gene_symbol":"SERPINB8","hgnc_symbol":"SERPINB8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:61637159-61672278","ensembl_id":"ENSG00000166401"}},"GRch38":{"90":{"location":"18:63969925-64019779","ensembl_id":"ENSG00000166401"}}},"hgnc_date_symbol_changed":"1995-07-21"},"entity_type":"gene","entity_name":"SERPINB8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27476651"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Peeling skin syndrome 5, MIM#617115"],"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. 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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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KBTBD14","BTBD20"],"biotype":"protein_coding","hgnc_id":"HGNC:1568","gene_name":"calicin","omim_gene":["603960"],"alias_name":null,"gene_symbol":"CCIN","hgnc_symbol":"CCIN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:36169389-36171329","ensembl_id":"ENSG00000185972"}},"GRch38":{"90":{"location":"9:36169394-36171334","ensembl_id":"ENSG00000185972"}}},"hgnc_date_symbol_changed":"1998-03-25"},"entity_type":"gene","entity_name":"CCIN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36546111","36527329"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spermatogenic failure 91, MIM# 620838"],"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. 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panel was developed and is maintained by VCGS.","status":"public","version":"0.61","version_created":"2026-01-26T17:52:14.382309+11:00","relevant_disorders":["Pierre Robin sequence","HP:0000201"],"stats":{"number_of_genes":54,"number_of_strs":1,"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":["MGC33302"],"biotype":"protein_coding","hgnc_id":"HGNC:28486","gene_name":"major facilitator superfamily domain containing 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Examples include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses.\r\n\r\nIf the clinical presentation is not specific for a lysosomal storage disorder, please consider the broader Metabolic Disorders Superpanel.","status":"public","version":"1.31","version_created":"2026-03-31T16:05:25.488597+11:00","relevant_disorders":["Lysosomal storage disorder","MONDO:0002561; Visceromegaly","HP:0003271"],"stats":{"number_of_genes":80,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["JBTS12"],"biotype":"protein_coding","hgnc_id":"HGNC:30497","gene_name":"kinesin family member 7","omim_gene":["611254"],"alias_name":null,"gene_symbol":"KIF7","hgnc_symbol":"KIF7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:90152020-90198682","ensembl_id":"ENSG00000166813"}},"GRch38":{"90":{"location":"15:89608789-89655451","ensembl_id":"ENSG00000166813"}}},"hgnc_date_symbol_changed":"2005-02-07"},"entity_type":"gene","entity_name":"KIF7","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","KidGen_CilioNephronop v38.1.0","Victorian Clinical Genetics Services"],"phenotypes":["Acrocallosal syndrome, MIM# 200990","Joubert syndrome 12, MIM# 200990"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":193,"hash_id":null,"name":"Renal Ciliopathies and Nephronophthisis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen","status":"public","version":"1.53","version_created":"2026-03-19T17:14:29.802874+11:00","relevant_disorders":["Abnormality of renal medullary morphology","HP:0025361; Renal cyst","HP:0000107"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC2840"],"biotype":"protein_coding","hgnc_id":"HGNC:23161","gene_name":"ALG8, alpha-1,3-glucosyltransferase","omim_gene":["608103"],"alias_name":["dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"],"gene_symbol":"ALG8","hgnc_symbol":"ALG8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:77811982-77850706","ensembl_id":"ENSG00000159063"}},"GRch38":{"90":{"location":"11:78100936-78139660","ensembl_id":"ENSG00000159063"}}},"hgnc_date_symbol_changed":"2003-10-15"},"entity_type":"gene","entity_name":"ALG8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 28375157, 32457805"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Polycystic liver disease 3 with or without kidney cysts, MIM# 617874"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":194,"hash_id":null,"name":"Renal Macrocystic Disease","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel is developed was developed 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 macrocystic kidney disease. Many of the disorders also have a polycystic liver disease, either as the predominant phenotype or in association with primary kidney cysts.","status":"public","version":"1.0","version_created":"2026-03-24T16:17:17.075108+11:00","relevant_disorders":["Renal cyst","HP:0000107"],"stats":{"number_of_genes":31,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ20128"],"biotype":"protein_coding","hgnc_id":"HGNC:14347","gene_name":"BCAS3, microtubule associated cell migration factor","omim_gene":["607470"],"alias_name":["Rudhira"],"gene_symbol":"BCAS3","hgnc_symbol":"BCAS3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:58754814-59470199","ensembl_id":"ENSG00000141376"}},"GRch38":{"90":{"location":"17:60677453-61392838","ensembl_id":"ENSG00000141376"}}},"hgnc_date_symbol_changed":"2001-01-09"},"entity_type":"gene","entity_name":"BCAS3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34022130"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hengel-Maroofian-Schols syndrome, MIM# 619641"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. 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It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["VATL","Vma3"],"biotype":"protein_coding","hgnc_id":"HGNC:855","gene_name":"ATPase H+ transporting V0 subunit c","omim_gene":["108745"],"alias_name":null,"gene_symbol":"ATP6V0C","hgnc_symbol":"ATP6V0C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:2563871-2570219","ensembl_id":"ENSG00000185883"}},"GRch38":{"90":{"location":"16:2513870-2520218","ensembl_id":"ENSG00000185883"}}},"hgnc_date_symbol_changed":"2002-05-10"},"entity_type":"gene","entity_name":"ATP6V0C","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["33190975","33090716"],"evidence":["Expert Review Green","Expert Review Green","Literature"],"phenotypes":["Epilepsy, early-onset, with or without developmental delay, MIM#620465","Epilepsy","Intellectual Disability","microcephaly"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV"],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["COX2","CO2"],"biotype":"protein_coding","hgnc_id":"HGNC:7421","gene_name":"mitochondrially encoded cytochrome c oxidase II","omim_gene":["516040"],"alias_name":null,"gene_symbol":"MT-CO2","hgnc_symbol":"MT-CO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:7586-8269","ensembl_id":"ENSG00000198712"}},"GRch38":{"90":{"location":"MT:7586-8269","ensembl_id":"ENSG00000198712"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-CO2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34325999","30315213","28521807","10205264","10486321","11558799","18245391","23616164","31167410","23965802","30030519"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal 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Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BS69"],"biotype":"protein_coding","hgnc_id":"HGNC:16966","gene_name":"zinc finger MYND-type containing 11","omim_gene":["608668"],"alias_name":null,"gene_symbol":"ZMYND11","hgnc_symbol":"ZMYND11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:180405-300577","ensembl_id":"ENSG00000015171"}},"GRch38":{"90":{"location":"10:134465-254637","ensembl_id":"ENSG00000015171"}}},"hgnc_date_symbol_changed":"2004-04-20"},"entity_type":"gene","entity_name":"ZMYND11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32097528"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Mental retardation, autosomal dominant 30, MIM# 616083"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P5C"],"biotype":"protein_coding","hgnc_id":"HGNC:9721","gene_name":"pyrroline-5-carboxylate reductase 1","omim_gene":["179035"],"alias_name":null,"gene_symbol":"PYCR1","hgnc_symbol":"PYCR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:79890260-79900288","ensembl_id":"ENSG00000183010"}},"GRch38":{"90":{"location":"17:81932384-81942412","ensembl_id":"ENSG00000183010"}}},"hgnc_date_symbol_changed":"1992-11-24"},"entity_type":"gene","entity_name":"PYCR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","NHS GMS","Expert Review Green","Expert Review Green","NHS GMS","Emory Genetics Laboratory"],"phenotypes":["Cutis laxa, autosomal recessive, type IIIB 614438","Cutis laxa, autosomal recessive, type IIB 612940"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HHT2","ALK1","HHT"],"biotype":"protein_coding","hgnc_id":"HGNC:175","gene_name":"activin A receptor like type 1","omim_gene":["601284"],"alias_name":null,"gene_symbol":"ACVRL1","hgnc_symbol":"ACVRL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52300692-52317145","ensembl_id":"ENSG00000139567"}},"GRch38":{"90":{"location":"12:51906908-51923361","ensembl_id":"ENSG00000139567"}}},"hgnc_date_symbol_changed":"1994-12-12"},"entity_type":"gene","entity_name":"ACVRL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16542389"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["telangiectasia","pulmonary arterial hypertension","epistaxis","pulmonary arteriovenous malformation","cerebral pulmonary arteriovenous malformation","hepatic arteriovenous malformation","Telangiectasia, hereditary hemorrhagic, type 2 600376"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":260,"hash_id":null,"name":"Hereditary Haemorrhagic Telangiectasia","disease_group":"Vascular disorders","disease_sub_group":"","description":"This panel was developed for use in cases with a clinical diagnosis of hereditary haemorrhagic telangiectasia. It is maintained by Royal Melbourne Hospital. It is a consensus panel used by VCGS.","status":"public","version":"1.6","version_created":"2026-04-06T11:40:33.000186+10:00","relevant_disorders":["Telangiectasia","HP:0001009"],"stats":{"number_of_genes":7,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"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":["DCDC4A","ORP1"],"biotype":"protein_coding","hgnc_id":"HGNC:10263","gene_name":"RP1, axonemal microtubule associated","omim_gene":["603937"],"alias_name":["doublecortin domain containing 4A","oxygen-regulated protein 1"],"gene_symbol":"RP1","hgnc_symbol":"RP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:55528627-55543394","ensembl_id":"ENSG00000104237"}},"GRch38":{"90":{"location":"8:54554361-54871720","ensembl_id":"ENSG00000104237"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"RP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Retinitis pigmentosa 1, 180100"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":277,"hash_id":null,"name":"Retinitis pigmentosa","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.","status":"public","version":"0.245","version_created":"2026-03-28T13:33:23.781842+11:00","relevant_disorders":["Abnormal retinal morphology","HP:0000479"],"stats":{"number_of_genes":159,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PTPS"],"biotype":"protein_coding","hgnc_id":"HGNC:9689","gene_name":"6-pyruvoyltetrahydropterin synthase","omim_gene":["612719"],"alias_name":null,"gene_symbol":"PTS","hgnc_symbol":"PTS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:112097088-112140678","ensembl_id":"ENSG00000150787"}},"GRch38":{"90":{"location":"11:112226365-112269955","ensembl_id":"ENSG00000150787"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"PTS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Hyperphenylalaninemia, BH4-deficient, A, 261640","6-Pyruvoyltetrahydropterin Synthase Deficiency","Dystonia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["D12S1889","NKHC","MY050"],"biotype":"protein_coding","hgnc_id":"HGNC:6323","gene_name":"kinesin family member 5A","omim_gene":["602821"],"alias_name":null,"gene_symbol":"KIF5A","hgnc_symbol":"KIF5A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:57943781-57980415","ensembl_id":"ENSG00000155980"}},"GRch38":{"90":{"location":"12:57549998-57586632","ensembl_id":"ENSG00000155980"}}},"hgnc_date_symbol_changed":"1998-08-24"},"entity_type":"gene","entity_name":"KIF5A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27463701","27414745"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Myoclonus, intractable, neonatal, MIM#617235"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ACAD5"],"biotype":"protein_coding","hgnc_id":"HGNC:4189","gene_name":"glutaryl-CoA dehydrogenase","omim_gene":["608801"],"alias_name":null,"gene_symbol":"GCDH","hgnc_symbol":"GCDH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:13001840-13025021","ensembl_id":"ENSG00000105607"}},"GRch38":{"90":{"location":"19:12891026-12914207","ensembl_id":"ENSG00000105607"}}},"hgnc_date_symbol_changed":"1992-12-17"},"entity_type":"gene","entity_name":"GCDH","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Amber","Expert Review Amber"],"phenotypes":["Glutaric aciduria, type I, MIM#231670"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CRALBP"],"biotype":"protein_coding","hgnc_id":"HGNC:10024","gene_name":"retinaldehyde binding protein 1","omim_gene":["180090"],"alias_name":null,"gene_symbol":"RLBP1","hgnc_symbol":"RLBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89753100-89764982","ensembl_id":"ENSG00000140522"}},"GRch38":{"90":{"location":"15:89209869-89221751","ensembl_id":"ENSG00000140522"}}},"hgnc_date_symbol_changed":"1991-05-15"},"entity_type":"gene","entity_name":"RLBP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Fundus  albipunctatus","Newfoundland rod - cone dystrophy","Fundus albipunctatus, 136880","Bothnia retinal  dystrophy","Retinitis punctata  albescens"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":303,"hash_id":null,"name":"Macular Dystrophy/Stargardt Disease","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.","status":"public","version":"0.60","version_created":"2026-03-31T16:05:02.510211+11:00","relevant_disorders":["Macular dystrophy","HP:0007754"],"stats":{"number_of_genes":39,"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":["MGC15668","4-HPPD-L"],"biotype":"protein_coding","hgnc_id":"HGNC:28242","gene_name":"4-hydroxyphenylpyruvate dioxygenase like","omim_gene":null,"alias_name":null,"gene_symbol":"HPDL","hgnc_symbol":"HPDL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45792545-45794347","ensembl_id":"ENSG00000186603"}},"GRch38":{"90":{"location":"1:45326905-45328533","ensembl_id":"ENSG00000186603"}}},"hgnc_date_symbol_changed":"2007-03-14"},"entity_type":"gene","entity_name":"HPDL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32707086"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026","Progressive neurological disorder","Leigh-like syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1320"],"biotype":"protein_coding","hgnc_id":"HGNC:21033","gene_name":"HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1","omim_gene":["610876"],"alias_name":null,"gene_symbol":"HACE1","hgnc_symbol":"HACE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:105175968-105307794","ensembl_id":"ENSG00000085382"}},"GRch38":{"90":{"location":"6:104728093-104859919","ensembl_id":"ENSG00000085382"}}},"hgnc_date_symbol_changed":"2003-05-07"},"entity_type":"gene","entity_name":"HACE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26424145","26437029","31321300"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Spastic paraplegia and psychomotor retardation with or without seizures, 616756","MONDO:0014764","Spastic paraplegia","psychomotor retardation"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1985","CMT4C"],"biotype":"protein_coding","hgnc_id":"HGNC:29427","gene_name":"SH3 domain and tetratricopeptide repeats 2","omim_gene":["608206"],"alias_name":null,"gene_symbol":"SH3TC2","hgnc_symbol":"SH3TC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:148303202-148442726","ensembl_id":"ENSG00000169247"}},"GRch38":{"90":{"location":"5:148923639-149063163","ensembl_id":"ENSG00000169247"}}},"hgnc_date_symbol_changed":"2004-12-15"},"entity_type":"gene","entity_name":"SH3TC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19744956","20220177","19744956","20028792"],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green"],"phenotypes":["HMSN","Charcot Marie Tooth disease, type 4C, 601596","Mononeuropathy of the median nerve, mild, 613353"],"mode_of_inheritance":"BOTH monoallelic and 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":[],"biotype":"protein_coding","hgnc_id":"HGNC:321","gene_name":"amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase","omim_gene":["610860"],"alias_name":["glycogen debranching enzyme","glycogen storage disease type III"],"gene_symbol":"AGL","hgnc_symbol":"AGL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:100315640-100389579","ensembl_id":"ENSG00000162688"}},"GRch38":{"90":{"location":"1:99850084-99924023","ensembl_id":"ENSG00000162688"}}},"hgnc_date_symbol_changed":"1992-07-29"},"entity_type":"gene","entity_name":"AGL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301788"],"evidence":["Expert Review Green","Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Glycogen storage disease IIIa 232400","Glycogen storage disease IIIb 232400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3084,"hash_id":null,"name":"Rhabdomyolysis and Metabolic Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nDepending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.46","version_created":"2026-03-31T19:05:14.301918+11:00","relevant_disorders":["Rhabdomyolysis","HP:0003201;Exercise intolerance","HP:0003546;Metabolic myopathy","MONDO:0020123"],"stats":{"number_of_genes":124,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ABP-280"],"biotype":"protein_coding","hgnc_id":"HGNC:3754","gene_name":"filamin A","omim_gene":["300017"],"alias_name":["actin binding protein 280","alpha filamin"],"gene_symbol":"FLNA","hgnc_symbol":"FLNA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153576892-153603006","ensembl_id":"ENSG00000196924"}},"GRch38":{"90":{"location":"X:154348524-154374638","ensembl_id":"ENSG00000196924"}}},"hgnc_date_symbol_changed":"1993-03-18"},"entity_type":"gene","entity_name":"FLNA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17357080","23037936","33464596","20871226"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Intestinal pseudoobstruction, neuronal, MIM# 300048","Congenital short bowel syndrome, MIM# 300048"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3087,"hash_id":null,"name":"Gastrointestinal neuromuscular disease","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel contains genes that cause disorders where intestinal pseudo-obstruction is a prominent feature of the condition.\r\n\r\nIt was previously known as 'Visceral Myopathy', and was developed and is maintained by RMH. It is a consensus panel used by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp \"Gastrointestinal neuromuscular disorders\" panel V1.15, 31/07/2021, with all discordances resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.26","version_created":"2026-03-26T19:32:59.997765+11:00","relevant_disorders":["Gastrointestinal dysmotility","HP:0002579"],"stats":{"number_of_genes":41,"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":["FLJ20032"],"biotype":"protein_coding","hgnc_id":"HGNC:25941","gene_name":"tet methylcytosine dioxygenase 2","omim_gene":["612839"],"alias_name":null,"gene_symbol":"TET2","hgnc_symbol":"TET2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:106067032-106200973","ensembl_id":"ENSG00000168769"}},"GRch38":{"90":{"location":"4:105145875-105279816","ensembl_id":"ENSG00000168769"}}},"hgnc_date_symbol_changed":"2008-03-12"},"entity_type":"gene","entity_name":"TET2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32192357"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Pulmonary arterial hypertension MONDO:0015924, TET2-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3095,"hash_id":null,"name":"Pulmonary Arterial Hypertension","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel is maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nThe content of this panel has been compared against the Genomics England 'Pulmonary Arterial Hypertension' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 27/07/2020.\r\n\r\nThe content of this panel has been aligned with curations by the ClinGen PAH GCEP, PMID 37422716, 07/08/2023.","status":"public","version":"1.57","version_created":"2026-04-07T13:46:27.864798+10:00","relevant_disorders":["Pulmonary arterial hypertension","HP:0002092"],"stats":{"number_of_genes":37,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["H6","NKX5-3"],"biotype":"protein_coding","hgnc_id":"HGNC:5017","gene_name":"H6 family homeobox 1","omim_gene":["142992"],"alias_name":null,"gene_symbol":"HMX1","hgnc_symbol":"HMX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:8847802-8873543","ensembl_id":"ENSG00000215612"}},"GRch38":{"90":{"location":"4:8846076-8871817","ensembl_id":"ENSG00000215612"}}},"hgnc_date_symbol_changed":"1994-12-19"},"entity_type":"gene","entity_name":"HMX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18423520","25574057","33465110","32552830","31691317"],"evidence":["Expert Review Green","RetNet"],"phenotypes":["Oculoauricular syndrome, MIM#612109"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.256","version_created":"2026-03-31T19:05:29.271183+11:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":138,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MOCO1"],"biotype":"protein_coding","hgnc_id":"HGNC:7193","gene_name":"molybdenum cofactor synthesis 2","omim_gene":["603708"],"alias_name":null,"gene_symbol":"MOCS2","hgnc_symbol":"MOCS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:52391509-52405893","ensembl_id":"ENSG00000164172"}},"GRch38":{"90":{"location":"5:53095679-53110063","ensembl_id":"ENSG00000164172"}}},"hgnc_date_symbol_changed":"1998-07-23"},"entity_type":"gene","entity_name":"MOCS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Molybdenum cofactor deficiency B, 252160 (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":["MGC26979","JBTS6","NPHP11"],"biotype":"protein_coding","hgnc_id":"HGNC:28396","gene_name":"transmembrane protein 67","omim_gene":["609884"],"alias_name":["Meckelin"],"gene_symbol":"TMEM67","hgnc_symbol":"TMEM67","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:94767072-94831462","ensembl_id":"ENSG00000164953"}},"GRch38":{"90":{"location":"8:93754844-93819234","ensembl_id":"ENSG00000164953"}}},"hgnc_date_symbol_changed":"2005-08-04"},"entity_type":"gene","entity_name":"TMEM67","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Joubert syndrome 6, 610688 (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":["ALADH","PBGS"],"biotype":"protein_coding","hgnc_id":"HGNC:395","gene_name":"aminolevulinate dehydratase","omim_gene":["125270"],"alias_name":["porphobilinogen synthase"],"gene_symbol":"ALAD","hgnc_symbol":"ALAD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:116148597-116163613","ensembl_id":"ENSG00000148218"}},"GRch38":{"90":{"location":"9:113386317-113401333","ensembl_id":"ENSG00000148218"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ALAD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Porphyria, acute hepatic, 612740 (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":["SSADH","SSDH"],"biotype":"protein_coding","hgnc_id":"HGNC:408","gene_name":"aldehyde dehydrogenase 5 family member A1","omim_gene":["610045"],"alias_name":["succinate-semialdehyde dehydrogenase"],"gene_symbol":"ALDH5A1","hgnc_symbol":"ALDH5A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:24495080-24537435","ensembl_id":"ENSG00000112294"}},"GRch38":{"90":{"location":"6:24494852-24537207","ensembl_id":"ENSG00000112294"}}},"hgnc_date_symbol_changed":"1999-06-11"},"entity_type":"gene","entity_name":"ALDH5A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Succinic semialdehyde dehydrogenase deficiency, 271980 (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":["KIAA0123","Alpha-MPP"],"biotype":"protein_coding","hgnc_id":"HGNC:18667","gene_name":"peptidase, mitochondrial processing alpha subunit","omim_gene":["613036"],"alias_name":null,"gene_symbol":"PMPCA","hgnc_symbol":"PMPCA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139305110-139318213","ensembl_id":"ENSG00000165688"}},"GRch38":{"90":{"location":"9:136410570-136423761","ensembl_id":"ENSG00000165688"}}},"hgnc_date_symbol_changed":"2003-06-20"},"entity_type":"gene","entity_name":"PMPCA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 2, 213200 (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. 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These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Hs.6719","BCS","h-BCS","BJS"],"biotype":"protein_coding","hgnc_id":"HGNC:1020","gene_name":"BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone","omim_gene":["603647"],"alias_name":["GRACILE syndrome","Bjornstad syndrome"],"gene_symbol":"BCS1L","hgnc_symbol":"BCS1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:219523487-219528166","ensembl_id":"ENSG00000074582"}},"GRch38":{"90":{"location":"2:218658764-218663443","ensembl_id":"ENSG00000074582"}}},"hgnc_date_symbol_changed":"1998-07-03"},"entity_type":"gene","entity_name":"BCS1L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Complex 3 deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. 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These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ASH1","HASH1","bHLHa46"],"biotype":"protein_coding","hgnc_id":"HGNC:738","gene_name":"achaete-scute family bHLH transcription factor 1","omim_gene":["100790"],"alias_name":null,"gene_symbol":"ASCL1","hgnc_symbol":"ASCL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:103351464-103354294","ensembl_id":"ENSG00000139352"}},"GRch38":{"90":{"location":"12:102957686-102960516","ensembl_id":"ENSG00000139352"}}},"hgnc_date_symbol_changed":"1993-12-09"},"entity_type":"gene","entity_name":"ASCL1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Congenital central hypoventilation"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4329","gene_name":"glycine receptor beta","omim_gene":["138492"],"alias_name":null,"gene_symbol":"GLRB","hgnc_symbol":"GLRB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:157997209-158093242","ensembl_id":"ENSG00000109738"}},"GRch38":{"90":{"location":"4:157076057-157172090","ensembl_id":"ENSG00000109738"}}},"hgnc_date_symbol_changed":"1998-08-21"},"entity_type":"gene","entity_name":"GLRB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Hyperekplexia 2, autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5099","gene_name":"homeobox A1","omim_gene":["142955"],"alias_name":null,"gene_symbol":"HOXA1","hgnc_symbol":"HOXA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:27132612-27135615","ensembl_id":"ENSG00000105991"}},"GRch38":{"90":{"location":"7:27092993-27095996","ensembl_id":"ENSG00000105991"}}},"hgnc_date_symbol_changed":"1990-06-15"},"entity_type":"gene","entity_name":"HOXA1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Athabaskan brainstem dysgenesis syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["COD","SmB/SmB'","Sm-B/B'","snRNP-B"],"biotype":"protein_coding","hgnc_id":"HGNC:11153","gene_name":"small nuclear ribonucleoprotein polypeptides B and B1","omim_gene":["182282"],"alias_name":null,"gene_symbol":"SNRPB","hgnc_symbol":"SNRPB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:2442280-2451499","ensembl_id":"ENSG00000125835"}},"GRch38":{"90":{"location":"20:2461634-2470853","ensembl_id":"ENSG00000125835"}}},"hgnc_date_symbol_changed":"1988-11-28"},"entity_type":"gene","entity_name":"SNRPB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25047197"],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":["CEREBROCOSTOMANDIBULAR SYNDROME","CCMS","Cleft palate"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ14993"],"biotype":"protein_coding","hgnc_id":"HGNC:13764","gene_name":"RELT, TNF receptor","omim_gene":["611211"],"alias_name":["receptor expressed in lymphoid tissues"],"gene_symbol":"RELT","hgnc_symbol":"RELT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:73087309-73108519","ensembl_id":"ENSG00000054967"}},"GRch38":{"90":{"location":"11:73376264-73397474","ensembl_id":"ENSG00000054967"}}},"hgnc_date_symbol_changed":"2007-06-14"},"entity_type":"gene","entity_name":"RELT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30506946"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Amelogenesis imperfecta, type IIIC, MIM# 618386"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3564,"hash_id":null,"name":"Amelogenesis imperfecta","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"1.14","version_created":"2026-01-09T15:02:14.439855+11:00","relevant_disorders":["Amelogenesis imperfecta","HP:0000705"],"stats":{"number_of_genes":41,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["dJ422F24.1","DEHAL1"],"biotype":"protein_coding","hgnc_id":"HGNC:21071","gene_name":"iodotyrosine deiodinase","omim_gene":["612025"],"alias_name":null,"gene_symbol":"IYD","hgnc_symbol":"IYD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:150690028-150727105","ensembl_id":"ENSG00000009765"}},"GRch38":{"90":{"location":"6:150368892-150405969","ensembl_id":"ENSG00000009765"}}},"hgnc_date_symbol_changed":"2006-08-24"},"entity_type":"gene","entity_name":"IYD","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["18434651","18765512","838849","14169503"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Thyroid dyshormonogenesis 4 - MIM#274800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":["20301622"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["ATR-X-related syndrome MONDO:0016980"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC33212"],"biotype":"protein_coding","hgnc_id":"HGNC:28482","gene_name":"Tctex1 domain containing 2","omim_gene":["617353"],"alias_name":null,"gene_symbol":"TCTEX1D2","hgnc_symbol":"TCTEX1D2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:196018090-196045170","ensembl_id":"ENSG00000213123"}},"GRch38":{"90":{"location":"3:196291219-196318299","ensembl_id":"ENSG00000213123"}}},"hgnc_date_symbol_changed":"2007-12-17"},"entity_type":"gene","entity_name":"TCTEX1D2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28475963","26044572","25830415"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services","Melbourne Genomics Health Alliance Perinatal Autopsy Flagship"],"phenotypes":["Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565","JATD","Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NESG1"],"biotype":"protein_coding","hgnc_id":"HGNC:17229","gene_name":"cilia and flagella associated protein 45","omim_gene":["605152"],"alias_name":null,"gene_symbol":"CFAP45","hgnc_symbol":"CFAP45","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:159842154-159869953","ensembl_id":"ENSG00000213085"}},"GRch38":{"90":{"location":"1:159872364-159900163","ensembl_id":"ENSG00000213085"}}},"hgnc_date_symbol_changed":"2014-08-13"},"entity_type":"gene","entity_name":"CFAP45","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 33139725"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Heterotaxy, visceral, 11, autosomal, with male infertility, MIM#619608"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FER1L2","DFNB6"],"biotype":"protein_coding","hgnc_id":"HGNC:8515","gene_name":"otoferlin","omim_gene":["603681"],"alias_name":["fer-1-like family member 2"],"gene_symbol":"OTOF","hgnc_symbol":"OTOF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:26680071-26781566","ensembl_id":"ENSG00000115155"}},"GRch38":{"90":{"location":"2:26457203-26558698","ensembl_id":"ENSG00000115155"}}},"hgnc_date_symbol_changed":"1999-03-31"},"entity_type":"gene","entity_name":"OTOF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Deafness, autosomal recessive 9, MIM#601071"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deafness"],"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":["p53","LFS1"],"biotype":"protein_coding","hgnc_id":"HGNC:11998","gene_name":"tumor protein p53","omim_gene":["191170"],"alias_name":["Li-Fraumeni syndrome"],"gene_symbol":"TP53","hgnc_symbol":"TP53","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7565097-7590856","ensembl_id":"ENSG00000141510"}},"GRch38":{"90":{"location":"17:7661779-7687550","ensembl_id":"ENSG00000141510"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"TP53","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28572266"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Li-Fraumeni syndrome MIM#151623"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["cancer","treatable"],"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":["EVIN2"],"biotype":"protein_coding","hgnc_id":"HGNC:20474","gene_name":"transmembrane channel like 8","omim_gene":["605829"],"alias_name":null,"gene_symbol":"TMC8","hgnc_symbol":"TMC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:76126851-76139049","ensembl_id":"ENSG00000167895"}},"GRch38":{"90":{"location":"17:78130770-78142968","ensembl_id":"ENSG00000167895"}}},"hgnc_date_symbol_changed":"2005-11-10"},"entity_type":"gene","entity_name":"TMC8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Epidermodysplasia verruciformi"],"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":["VACHT"],"biotype":"protein_coding","hgnc_id":"HGNC:10936","gene_name":"solute carrier family 18 member A3","omim_gene":["600336"],"alias_name":null,"gene_symbol":"SLC18A3","hgnc_symbol":"SLC18A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:50818347-50820765","ensembl_id":"ENSG00000187714"}},"GRch38":{"90":{"location":"10:49610301-49612720","ensembl_id":"ENSG00000187714"}}},"hgnc_date_symbol_changed":"1995-06-01"},"entity_type":"gene","entity_name":"SLC18A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301347"],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Myasthenic syndrome, congenital, 21, presynaptic, MIM#\t617239"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","neurological"],"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":["PAT2","tramdorin","TRAMD1"],"biotype":"protein_coding","hgnc_id":"HGNC:18762","gene_name":"solute carrier family 36 member 2","omim_gene":["608331"],"alias_name":null,"gene_symbol":"SLC36A2","hgnc_symbol":"SLC36A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:150694539-150727151","ensembl_id":"ENSG00000186335"}},"GRch38":{"90":{"location":"5:151314978-151347590","ensembl_id":"ENSG00000186335"}}},"hgnc_date_symbol_changed":"2003-01-13"},"entity_type":"gene","entity_name":"SLC36A2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["26141664","19033659","27604308"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services","Literature"],"phenotypes":["Iminoglycinuria, digenic MIM#242600","Hyperglycinuria MIM#138500","Disorders of amino acid transport"],"mode_of_inheritance":"BOTH monoallelic and 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":["osterix","OSX"],"biotype":"protein_coding","hgnc_id":"HGNC:17321","gene_name":"Sp7 transcription factor","omim_gene":["606633"],"alias_name":null,"gene_symbol":"SP7","hgnc_symbol":"SP7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:53720362-53739099","ensembl_id":"ENSG00000170374"}},"GRch38":{"90":{"location":"12:53326575-53345315","ensembl_id":"ENSG00000170374"}}},"hgnc_date_symbol_changed":"2002-09-23"},"entity_type":"gene","entity_name":"SP7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32413570","29382611","34091789","20579626","35367406"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Osteogenesis imperfecta type 12, MONDO:0013460","Osteogenesis imperfecta, type XII, OMIM:613849"],"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":["DPC4"],"biotype":"protein_coding","hgnc_id":"HGNC:6770","gene_name":"SMAD family member 4","omim_gene":["600993"],"alias_name":null,"gene_symbol":"SMAD4","hgnc_symbol":"SMAD4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:48494410-48611415","ensembl_id":"ENSG00000141646"}},"GRch38":{"90":{"location":"18:51028394-51085045","ensembl_id":"ENSG00000141646"}}},"hgnc_date_symbol_changed":"2004-05-26"},"entity_type":"gene","entity_name":"SMAD4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MONDO:0008278","Polyposis, juvenile intestinal, MIM#174900","Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM#175050"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4371,"hash_id":null,"name":"Colorectal Cancer and Polyposis","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\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 colorectal cancer and polyposis 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":"1.4","version_created":"2025-11-20T12:31:46.390137+11:00","relevant_disorders":[],"stats":{"number_of_genes":22,"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":["bHLHc8"],"biotype":"protein_coding","hgnc_id":"HGNC:24669","gene_name":"folliculogenesis specific bHLH transcription factor","omim_gene":["608697"],"alias_name":["factor in the germline alpha"],"gene_symbol":"FIGLA","hgnc_symbol":"FIGLA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:71004442-71017775","ensembl_id":"ENSG00000183733"}},"GRch38":{"90":{"location":"2:70777310-70790643","ensembl_id":"ENSG00000183733"}}},"hgnc_date_symbol_changed":"2006-05-18"},"entity_type":"gene","entity_name":"FIGLA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["18499083","29914564","30474133","34778283"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Premature ovarian failure 6, MIM# 612310"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NCRNA00003"],"biotype":"antisense_RNA","hgnc_id":"HGNC:10561","gene_name":"ATXN8 opposite strand (non-protein coding)","omim_gene":["603680"],"alias_name":["non-protein coding RNA 3"],"gene_symbol":"ATXN8OS","hgnc_symbol":"ATXN8OS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:70681345-70713561","ensembl_id":"ENSG00000230223"}},"GRch38":{"90":{"location":"13:70107213-70139429","ensembl_id":"ENSG00000230223"}}},"hgnc_date_symbol_changed":"2006-07-18"},"entity_type":"str","entity_name":"ATXN8OS_SCA8_CTG","confidence_level":"3","penetrance":null,"publications":["20301445"],"evidence":["Expert Review Green","Expert List"],"phenotypes":["Spinocerebellar ataxia 8 MIM#608768"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CTG","chromosome":"13","grch37_coordinates":[70713486,70713560],"grch38_coordinates":[70139354,70139422],"normal_repeats":50,"pathogenic_repeats":80,"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":["FRAXF"],"biotype":null,"hgnc_id":"HGNC:17125","gene_name":"transmembrane protein 185A","omim_gene":["300031"],"alias_name":null,"gene_symbol":"TMEM185A","hgnc_symbol":"TMEM185A","hgnc_release":"2017-11-03","ensembl_genes":{},"hgnc_date_symbol_changed":"2007-02-05"},"entity_type":"str","entity_name":"TMEM185A_FRAXF_GCC","confidence_level":"1","penetrance":null,"publications":["7874164","10094554","8651274"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Intellectual disability"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","repeated_sequence":"GCC","chromosome":"X","grch37_coordinates":[148713390,148713437],"grch38_coordinates":[149631714,149631781],"normal_repeats":29,"pathogenic_repeats":900,"tags":["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":[]}}]}