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It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.","status":"public","version":"0.63","version_created":"2026-02-06T09:22:25.758996+11:00","relevant_disorders":["Prolonged QT interval","HP:0001657"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSS","MPS3A","SFMD"],"biotype":"protein_coding","hgnc_id":"HGNC:10818","gene_name":"N-sulfoglucosamine sulfohydrolase","omim_gene":["605270"],"alias_name":["sulfamidase","mucopolysaccharidosis type IIIA"],"gene_symbol":"SGSH","hgnc_symbol":"SGSH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:78180515-78194722","ensembl_id":"ENSG00000181523"}},"GRch38":{"90":{"location":"17:80206716-80220923","ensembl_id":"ENSG00000181523"}}},"hgnc_date_symbol_changed":"1997-06-24"},"entity_type":"gene","entity_name":"SGSH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["U5-15kD","DIM1","HsT161","DIB1","SNRNP15"],"biotype":"protein_coding","hgnc_id":"HGNC:30551","gene_name":"thioredoxin like 4A","omim_gene":["611595"],"alias_name":["similar to S. pombe dim1+"],"gene_symbol":"TXNL4A","hgnc_symbol":"TXNL4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:77732867-77793949","ensembl_id":"ENSG00000141759"}},"GRch38":{"90":{"location":"18:79970811-80033949","ensembl_id":"ENSG00000141759"}}},"hgnc_date_symbol_changed":"2004-08-12"},"entity_type":"gene","entity_name":"TXNL4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25434003"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Burn-McKeown syndrome, MIM# 608572","Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["SV/CNV","5'UTR"],"panel":{"id":136,"hash_id":null,"name":"Mandibulofacial Acrofacial dysostosis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel contains genes associated with the facial dysostoses, which can be subdivided into mandibulofacial dysostoses, which present with craniofacial defects only, and acrofacial dysostoses, which encompass both craniofacial and limb anomalies. Facial dysostoses arise as a consequence of abnormal development of the first and second pharyngeal arches and their derivatives, including the upper and lower jaw and their hyoid support structures.","status":"public","version":"1.22","version_created":"2026-03-25T17:21:58.910310+11:00","relevant_disorders":["Craniofacial dysostosis","HP:0004439"],"stats":{"number_of_genes":35,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BNIP-H"],"biotype":"protein_coding","hgnc_id":"HGNC:779","gene_name":"ATCAY, caytaxin","omim_gene":["608179"],"alias_name":["Cayman ataxia","caytaxin"],"gene_symbol":"ATCAY","hgnc_symbol":"ATCAY","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:3879862-3928077","ensembl_id":"ENSG00000167654"}},"GRch38":{"90":{"location":"19:3879864-3928079","ensembl_id":"ENSG00000167654"}}},"hgnc_date_symbol_changed":"1997-01-10"},"entity_type":"gene","entity_name":"ATCAY","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14556008","29449188","23226316","26343454"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ataxia, cerebellar, Cayman type, MIM# 601238","MONDO:0011025"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["ADAM-TS10"],"biotype":"protein_coding","hgnc_id":"HGNC:13201","gene_name":"ADAM metallopeptidase with thrombospondin type 1 motif 10","omim_gene":["608990"],"alias_name":null,"gene_symbol":"ADAMTS10","hgnc_symbol":"ADAMTS10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:8645126-8675620","ensembl_id":"ENSG00000142303"}},"GRch38":{"90":{"location":"19:8580242-8610735","ensembl_id":"ENSG00000142303"}}},"hgnc_date_symbol_changed":"2001-04-05"},"entity_type":"gene","entity_name":"ADAMTS10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15368195","18567016","19836009"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Weill-Marchesani syndrome 1, recessive, MIM#277600"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+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:21699","gene_name":"ceramide kinase like","omim_gene":["608381"],"alias_name":null,"gene_symbol":"CERKL","hgnc_symbol":"CERKL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:182401403-182545392","ensembl_id":"ENSG00000188452"}},"GRch38":{"90":{"location":"2:181536676-181680665","ensembl_id":"ENSG00000188452"}}},"hgnc_date_symbol_changed":"2004-11-26"},"entity_type":"gene","entity_name":"CERKL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33322828","32865075","32411380","14681825","24043777","28838317","27208204","28130426"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Retinitis pigmentosa 26, MIM# 608380"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["ALC1"],"biotype":"protein_coding","hgnc_id":"HGNC:1916","gene_name":"chromodomain helicase DNA binding protein 1 like","omim_gene":["613039"],"alias_name":["amplified in liver cancer 1"],"gene_symbol":"CHD1L","hgnc_symbol":"CHD1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:146714291-146767443","ensembl_id":"ENSG00000131778"}},"GRch38":{"90":{"location":"1:147242641-147295766","ensembl_id":"ENSG00000131778"}}},"hgnc_date_symbol_changed":"1999-05-28"},"entity_type":"gene","entity_name":"CHD1L","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22146311","24429398"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["CAKUT"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["PDLIM6","KIAA0613","ZASP"],"biotype":"protein_coding","hgnc_id":"HGNC:15710","gene_name":"LIM domain binding 3","omim_gene":["605906"],"alias_name":["cypher","oracle","Z-band alternatively spliced PDZ motif protein"],"gene_symbol":"LDB3","hgnc_symbol":"LDB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:88428206-88495825","ensembl_id":"ENSG00000122367"}},"GRch38":{"90":{"location":"10:86668449-86736068","ensembl_id":"ENSG00000122367"}}},"hgnc_date_symbol_changed":"2001-12-04"},"entity_type":"gene","entity_name":"LDB3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26419279","16427346","14660611","14662268","27546599","25911362","36253531","32922198"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cardiomyopathy, dilated, 2L, MIM# 621237","Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493","Cardiomyopathy, hypertrophic, 24 MIM#601493","Left ventricular noncompaction 3 MIM#601493","Myopathy, myofibrillar, 4 MIM#609452"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["NCCT"],"biotype":"protein_coding","hgnc_id":"HGNC:10912","gene_name":"solute carrier family 12 member 3","omim_gene":["600968"],"alias_name":null,"gene_symbol":"SLC12A3","hgnc_symbol":"SLC12A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:56899119-56949762","ensembl_id":"ENSG00000070915"}},"GRch38":{"90":{"location":"16:56865207-56915850","ensembl_id":"ENSG00000070915"}}},"hgnc_date_symbol_changed":"1995-10-02"},"entity_type":"gene","entity_name":"SLC12A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8528245","11102542"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Gitelman syndrome, MIM# 263800"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["NICE-4","KIAA0144"],"biotype":"protein_coding","hgnc_id":"HGNC:29877","gene_name":"ubiquitin associated protein 2 like","omim_gene":["616472"],"alias_name":null,"gene_symbol":"UBAP2L","hgnc_symbol":"UBAP2L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:154192655-154243986","ensembl_id":"ENSG00000143569"}},"GRch38":{"90":{"location":"1:154220179-154271510","ensembl_id":"ENSG00000143569"}}},"hgnc_date_symbol_changed":"2004-09-14"},"entity_type":"gene","entity_name":"UBAP2L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35977029"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["SNAP-BETA","SNAPB"],"biotype":"protein_coding","hgnc_id":"HGNC:15751","gene_name":"NSF attachment protein beta","omim_gene":["611270"],"alias_name":["beta soluble NSF attachment protein"],"gene_symbol":"NAPB","hgnc_symbol":"NAPB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:23355159-23402125","ensembl_id":"ENSG00000125814"}},"GRch38":{"90":{"location":"20:23374519-23421519","ensembl_id":"ENSG00000125814"}}},"hgnc_date_symbol_changed":"2001-05-30"},"entity_type":"gene","entity_name":"NAPB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26235277","28097321","33189936"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 107 MIM#620033"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["p66alpha"],"biotype":"protein_coding","hgnc_id":"HGNC:29989","gene_name":"GATA zinc finger domain containing 2A","omim_gene":["614997"],"alias_name":["p66 alpha"],"gene_symbol":"GATAD2A","hgnc_symbol":"GATAD2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:19496635-19619740","ensembl_id":"ENSG00000167491"}},"GRch38":{"90":{"location":"19:19385826-19508931","ensembl_id":"ENSG00000167491"}}},"hgnc_date_symbol_changed":"2005-03-31"},"entity_type":"gene","entity_name":"GATAD2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37181331","17565372"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, GATAD2A-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":"1.4741","version_created":"2026-04-13T17:23:32.780216+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":["SNAP190","PTFalpha","FLJ13451"],"biotype":"protein_coding","hgnc_id":"HGNC:11137","gene_name":"small nuclear RNA activating complex polypeptide 4","omim_gene":["602777"],"alias_name":null,"gene_symbol":"SNAPC4","hgnc_symbol":"SNAPC4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139270029-139293249","ensembl_id":"ENSG00000165684"}},"GRch38":{"90":{"location":"9:136375577-136400168","ensembl_id":"ENSG00000165684"}}},"hgnc_date_symbol_changed":"1998-02-17"},"entity_type":"gene","entity_name":"SNAPC4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36965478"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM#\t620515"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0081","BOCA"],"biotype":"protein_coding","hgnc_id":"HGNC:13520","gene_name":"mesoderm development LRP chaperone","omim_gene":["607783"],"alias_name":null,"gene_symbol":"MESD","hgnc_symbol":"MESD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:81239667-81282219","ensembl_id":"ENSG00000117899"}},"GRch38":{"90":{"location":"15:80946289-80989878","ensembl_id":"ENSG00000117899"}}},"hgnc_date_symbol_changed":"2017-05-16"},"entity_type":"gene","entity_name":"MESD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31564437"],"evidence":["Expert Review Green","Other"],"phenotypes":["Osteogenesis imperfecta, type XX, MIM#\t618644"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":147,"hash_id":null,"name":"Osteogenesis Imperfecta and Osteoporosis","disease_group":"Skeletal disorders; Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with osteogenesis imperfecta and osteoporosis. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Osteogenesis imperfecta' panel V5.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.18","version_created":"2026-02-22T14:59:29.563350+11:00","relevant_disorders":["Increased susceptibility to fractures","HP:0002659"],"stats":{"number_of_genes":48,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ20345","POC12","BBS13"],"biotype":"protein_coding","hgnc_id":"HGNC:7121","gene_name":"Meckel syndrome, type 1","omim_gene":["609883"],"alias_name":["POC12 centriolar protein homolog (Chlamydomonas)"],"gene_symbol":"MKS1","hgnc_symbol":"MKS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:56282803-56296966","ensembl_id":"ENSG00000011143"}},"GRch38":{"90":{"location":"17:58205437-58219605","ensembl_id":"ENSG00000011143"}}},"hgnc_date_symbol_changed":"1995-11-07"},"entity_type":"gene","entity_name":"MKS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":159,"hash_id":null,"name":"Polydactyly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes that cause syndromic and non-syndromic polydactyly.","status":"public","version":"0.301","version_created":"2026-03-12T11:30:58.449890+11:00","relevant_disorders":["Polydactyly","HP:0010442"],"stats":{"number_of_genes":141,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1345","MKS6","JBTS9"],"biotype":"protein_coding","hgnc_id":"HGNC:29253","gene_name":"coiled-coil and C2 domain containing 2A","omim_gene":["612013"],"alias_name":["Meckel syndrome, type 6"],"gene_symbol":"CC2D2A","hgnc_symbol":"CC2D2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:15471489-15603180","ensembl_id":"ENSG00000048342"}},"GRch38":{"90":{"location":"4:15469865-15601557","ensembl_id":"ENSG00000048342"}}},"hgnc_date_symbol_changed":"2007-10-19"},"entity_type":"gene","entity_name":"CC2D2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","KidGen_CilioNephronop v38.1.0"],"phenotypes":["Meckel syndrome 6, MIM# 612284"],"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":["FLJ14888","HSPC264"],"biotype":"protein_coding","hgnc_id":"HGNC:25928","gene_name":"WD repeat domain 73","omim_gene":["616144"],"alias_name":null,"gene_symbol":"WDR73","hgnc_symbol":"WDR73","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:85185999-85197574","ensembl_id":"ENSG00000177082"}},"GRch38":{"90":{"location":"15:84639281-84654343","ensembl_id":"ENSG00000177082"}}},"hgnc_date_symbol_changed":"2005-05-26"},"entity_type":"gene","entity_name":"WDR73","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25466283","26123727","25873735","26070982","30315938"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Galloway-Mowat syndrome 1 MIM#251300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","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":["KIAA1190","DKFZp434N0615"],"biotype":"protein_coding","hgnc_id":"HGNC:26955","gene_name":"zinc finger and BTB domain containing 47","omim_gene":null,"alias_name":null,"gene_symbol":"ZBTB47","hgnc_symbol":"ZBTB47","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:42695176-42709072","ensembl_id":"ENSG00000114853"}},"GRch38":{"90":{"location":"3:42653684-42665854","ensembl_id":"ENSG00000114853"}}},"hgnc_date_symbol_changed":"2006-09-19"},"entity_type":"gene","entity_name":"ZBTB47","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37743782"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO#0700092), ZBTB47-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RNF108","PEP5"],"biotype":"protein_coding","hgnc_id":"HGNC:14583","gene_name":"VPS11, CORVET/HOPS core subunit","omim_gene":["608549"],"alias_name":null,"gene_symbol":"VPS11","hgnc_symbol":"VPS11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118938403-118952688","ensembl_id":"ENSG00000160695"}},"GRch38":{"90":{"location":"11:119067692-119081978","ensembl_id":"ENSG00000160695"}}},"hgnc_date_symbol_changed":"2001-02-08"},"entity_type":"gene","entity_name":"VPS11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27120463","26307567","27473128"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Leukodystrophy, hypomyelinating, 12, MIM#616683"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:16410","gene_name":"DnaJ heat shock protein family (Hsp40) member C30","omim_gene":null,"alias_name":null,"gene_symbol":"DNAJC30","hgnc_symbol":"DNAJC30","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:73095299-73097783","ensembl_id":"ENSG00000176410"}},"GRch38":{"90":{"location":"7:73680969-73683453","ensembl_id":"ENSG00000176410"}}},"hgnc_date_symbol_changed":"2008-06-17"},"entity_type":"gene","entity_name":"DNAJC30","confidence_level":"3","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":["PMID: 33465056"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Leber Hereditary Optic Neuropathy, MIM#619382"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GA2","EMA","MADD"],"biotype":"protein_coding","hgnc_id":"HGNC:3481","gene_name":"electron transfer flavoprotein alpha subunit","omim_gene":["608053"],"alias_name":["glutaric aciduria II"],"gene_symbol":"ETFA","hgnc_symbol":"ETFA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:76507696-76603813","ensembl_id":"ENSG00000140374"}},"GRch38":{"90":{"location":"15:76215355-76311472","ensembl_id":"ENSG00000140374"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ETFA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["1882842","12815589"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Glutaric acidemia IIA MIM#231680","Multiple acyl-CoA dehydrogenase deficiency (MADD)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC14993","MGC23778","PRO1992","dJ382I10.6","DALRD2"],"biotype":"protein_coding","hgnc_id":"HGNC:21406","gene_name":"arginyl-tRNA synthetase 2, mitochondrial","omim_gene":["611524"],"alias_name":["arginine tRNA ligase 2, mitochondrial (putative)"],"gene_symbol":"RARS2","hgnc_symbol":"RARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:88224096-88299721","ensembl_id":"ENSG00000146282"}},"GRch38":{"90":{"location":"6:87514378-87590003","ensembl_id":"ENSG00000146282"}}},"hgnc_date_symbol_changed":"2007-02-23"},"entity_type":"gene","entity_name":"RARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17847012","25809939","20635367","31429931"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Pontocerebellar hypoplasia, type 6, MIM# 611523"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GGPPS1"],"biotype":"protein_coding","hgnc_id":"HGNC:4249","gene_name":"geranylgeranyl diphosphate synthase 1","omim_gene":["606982"],"alias_name":null,"gene_symbol":"GGPS1","hgnc_symbol":"GGPS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:235490665-235507847","ensembl_id":"ENSG00000152904"}},"GRch38":{"90":{"location":"1:235327350-235344532","ensembl_id":"ENSG00000152904"}}},"hgnc_date_symbol_changed":"1999-08-26"},"entity_type":"gene","entity_name":"GGPS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32403198"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518","Muscular dystrophy","Deafness","Ovarian insufficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HBGF-3"],"biotype":"protein_coding","hgnc_id":"HGNC:3681","gene_name":"fibroblast growth factor 3","omim_gene":["164950"],"alias_name":["INT-2 proto-oncogene protein","oncogene INT2","V-INT2 murine mammary tumor virus integration site oncogene homolog","murine mammary tumor virus integration site 2, mouse"],"gene_symbol":"FGF3","hgnc_symbol":"FGF3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:69624992-69633792","ensembl_id":"ENSG00000186895"}},"GRch38":{"90":{"location":"11:69810224-69819024","ensembl_id":"ENSG00000186895"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"FGF3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21480479","21306635","18435799","17236138","21306635","18701883","8223243","26995070","29902227","30504125"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4066","gene_name":"GRB2 associated binding protein 1","omim_gene":["604439"],"alias_name":null,"gene_symbol":"GAB1","hgnc_symbol":"GAB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:144257915-144395721","ensembl_id":"ENSG00000109458"}},"GRch38":{"90":{"location":"4:143336762-143474568","ensembl_id":"ENSG00000109458"}}},"hgnc_date_symbol_changed":"1996-12-18"},"entity_type":"gene","entity_name":"GAB1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["29408807"],"evidence":["Literature","Literature"],"phenotypes":["hearing loss, autosomal recessive MONDO:0019588"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC3222","DKFZp586G1919","LUMA"],"biotype":"protein_coding","hgnc_id":"HGNC:28472","gene_name":"transmembrane protein 43","omim_gene":["612048"],"alias_name":null,"gene_symbol":"TMEM43","hgnc_symbol":"TMEM43","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:14166440-14185179","ensembl_id":"ENSG00000170876"}},"GRch38":{"90":{"location":"3:14124940-14143679","ensembl_id":"ENSG00000170876"}}},"hgnc_date_symbol_changed":"2005-01-24"},"entity_type":"gene","entity_name":"TMEM43","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance"],"phenotypes":["Arrhythmogenic right ventricular dysplasia 5, MIM# 604400"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0186","PSF1"],"biotype":"protein_coding","hgnc_id":"HGNC:28980","gene_name":"GINS complex subunit 1","omim_gene":["610608"],"alias_name":null,"gene_symbol":"GINS1","hgnc_symbol":"GINS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:25388363-25433264","ensembl_id":"ENSG00000101003"}},"GRch38":{"90":{"location":"20:25407727-25452628","ensembl_id":"ENSG00000101003"}}},"hgnc_date_symbol_changed":"2006-05-04"},"entity_type":"gene","entity_name":"GINS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28414293"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency 55, MIM#617827"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.145","version_created":"2026-03-02T21:55:19.238904+11:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["REC2","hREC2","R51H2"],"biotype":"protein_coding","hgnc_id":"HGNC:9822","gene_name":"RAD51 paralog B","omim_gene":["602948"],"alias_name":null,"gene_symbol":"RAD51B","hgnc_symbol":"RAD51B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:68286496-69196935","ensembl_id":"ENSG00000182185"}},"GRch38":{"90":{"location":"14:67819779-68730218","ensembl_id":"ENSG00000182185"}}},"hgnc_date_symbol_changed":"2011-07-01"},"entity_type":"gene","entity_name":"RAD51B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["PMID: 30234181"],"evidence":["Expert list","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":["umccr"],"panel":{"id":242,"hash_id":null,"name":"Homologous_recombination_deficiency_WTS_UMCCR","disease_group":"Cancer","disease_sub_group":"","description":"Author: Jacek Marzec, jacek.marzec@unimelb.edu.au\r\n\r\nPurpose: panel of genes involved in homologous recombination DNA damage repair (HR-DDR) deficiency in various cancer types. This set of genes is used in UMCCR WTS report \"HRD genes\" section\r\n\r\nSource: -\r\n\r\nGithub: https://github.com/umccr/RNAsum","status":"public","version":"0.45","version_created":"2025-11-03T15:31:09.278966+11:00","relevant_disorders":[],"stats":{"number_of_genes":36,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ZNF927"],"biotype":"protein_coding","hgnc_id":"HGNC:777","gene_name":"zinc finger homeobox 3","omim_gene":["104155"],"alias_name":null,"gene_symbol":"ZFHX3","hgnc_symbol":"ZFHX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:72816784-73093597","ensembl_id":"ENSG00000140836"}},"GRch38":{"90":{"location":"16:72782885-73144447","ensembl_id":"ENSG00000140836"}}},"hgnc_date_symbol_changed":"2007-08-09"},"entity_type":"gene","entity_name":"ZFHX3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37292950","38412861"],"evidence":["Expert Review Green","Research"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SEC34"],"biotype":"protein_coding","hgnc_id":"HGNC:18619","gene_name":"component of oligomeric golgi complex 3","omim_gene":["606975"],"alias_name":null,"gene_symbol":"COG3","hgnc_symbol":"COG3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:46039060-46110765","ensembl_id":"ENSG00000136152"}},"GRch38":{"90":{"location":"13:45464898-45536630","ensembl_id":"ENSG00000136152"}}},"hgnc_date_symbol_changed":"2002-05-09"},"entity_type":"gene","entity_name":"COG3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37711075"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Congenital disorder of glycosylation, type IIbb, MIM# 620546"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","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":["MGC35130"],"biotype":"protein_coding","hgnc_id":"HGNC:28559","gene_name":"ubiquitin conjugating enzyme E2 U (putative)","omim_gene":null,"alias_name":null,"gene_symbol":"UBE2U","hgnc_symbol":"UBE2U","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:64669310-64733051","ensembl_id":"ENSG00000177414"}},"GRch38":{"90":{"location":"1:64203627-64267368","ensembl_id":"ENSG00000177414"}}},"hgnc_date_symbol_changed":"2005-03-21"},"entity_type":"gene","entity_name":"UBE2U","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["PMID: 33776059"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Retinoschisis","cataracts","learning disabilities","developmental delay"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":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":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","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":["FLJ45465"],"biotype":"protein_coding","hgnc_id":"HGNC:12851","gene_name":"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon","omim_gene":["605066"],"alias_name":["14-3-3 epsilon"],"gene_symbol":"YWHAE","hgnc_symbol":"YWHAE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:1247566-1303672","ensembl_id":"ENSG00000108953"}},"GRch38":{"90":{"location":"17:1344272-1400378","ensembl_id":"ENSG00000108953"}}},"hgnc_date_symbol_changed":"1993-09-20"},"entity_type":"gene","entity_name":"YWHAE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36999555"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092"],"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":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:5133","gene_name":"homeobox D10","omim_gene":["142984"],"alias_name":null,"gene_symbol":"HOXD10","hgnc_symbol":"HOXD10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:176973518-176984670","ensembl_id":"ENSG00000128710"}},"GRch38":{"90":{"location":"2:176108790-176119942","ensembl_id":"ENSG00000128710"}}},"hgnc_date_symbol_changed":"1990-06-15"},"entity_type":"gene","entity_name":"HOXD10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":["Vertical talus, congenital, MIM#192950"],"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. 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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":[]},"transcript":null},{"gene_data":{"alias":["EIF-2Balpha","EIF-2B","EIF2BA"],"biotype":"protein_coding","hgnc_id":"HGNC:3257","gene_name":"eukaryotic translation initiation factor 2B subunit alpha","omim_gene":["606686"],"alias_name":null,"gene_symbol":"EIF2B1","hgnc_symbol":"EIF2B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:124104953-124118313","ensembl_id":"ENSG00000111361"}},"GRch38":{"90":{"location":"12:123620406-123633766","ensembl_id":"ENSG00000111361"}}},"hgnc_date_symbol_changed":"1991-03-04"},"entity_type":"gene","entity_name":"EIF2B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Leukoencephalopathy with vanishing white matter MIM#603896"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","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":[]},"transcript":[]},{"gene_data":{"alias":["ABL"],"biotype":"protein_coding","hgnc_id":"HGNC:7467","gene_name":"microsomal triglyceride transfer protein","omim_gene":["157147"],"alias_name":null,"gene_symbol":"MTTP","hgnc_symbol":"MTTP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:100484918-100545156","ensembl_id":"ENSG00000138823"}},"GRch38":{"90":{"location":"4:99563761-99623999","ensembl_id":"ENSG00000138823"}}},"hgnc_date_symbol_changed":"2005-11-04"},"entity_type":"gene","entity_name":"MTTP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Abetalipoproteinemia, 200100","Abetalipoproteinemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"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":[]},"transcript":null},{"gene_data":{"alias":["trnF"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7481","gene_name":"mitochondrially encoded tRNA phenylalanine","omim_gene":["590070"],"alias_name":null,"gene_symbol":"MT-TF","hgnc_symbol":"MT-TF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:577-647","ensembl_id":"ENSG00000210049"}},"GRch38":{"90":{"location":"MT:577-647","ensembl_id":"ENSG00000210049"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["14659412","9771776","16806928","21060018","31463198","32419253","34607911","21424749","15184630","20142618","28267784","31722346","35472031","9636664","21882289","16769874","21914246","31009750","18977334"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TF-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":277,"hash_id":null,"name":"Retinitis pigmentosa","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.","status":"public","version":"0.245","version_created":"2026-03-28T13:33:23.781842+11:00","relevant_disorders":["Abnormal retinal morphology","HP:0000479"],"stats":{"number_of_genes":159,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CaMK-GR"],"biotype":"protein_coding","hgnc_id":"HGNC:1464","gene_name":"calcium/calmodulin dependent protein kinase IV","omim_gene":["114080"],"alias_name":["brain Ca++-calmodulin-dependent protein kinase type IV","calcium/calmodulin-dependent protein kinase type IV catalytic chain","CAM kinase IV","CAM kinase- GR"],"gene_symbol":"CAMK4","hgnc_symbol":"CAMK4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:110559351-110830584","ensembl_id":"ENSG00000152495"}},"GRch38":{"90":{"location":"5:111223653-111494886","ensembl_id":"ENSG00000152495"}}},"hgnc_date_symbol_changed":"1989-05-24"},"entity_type":"gene","entity_name":"CAMK4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30262571","33098801","33211350"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Intellectual disability","Autism","Behavioral abnormality","Abnormality of movement","Dystonia","Ataxia","Chorea","Myoclonus"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2158","gene_name":"2',3'-cyclic nucleotide 3' phosphodiesterase","omim_gene":["123830"],"alias_name":null,"gene_symbol":"CNP","hgnc_symbol":"CNP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40118759-40129749","ensembl_id":"ENSG00000173786"}},"GRch38":{"90":{"location":"17:41966741-41977731","ensembl_id":"ENSG00000173786"}}},"hgnc_date_symbol_changed":"1991-07-15"},"entity_type":"gene","entity_name":"CNP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32128616","12590258","40396300"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Leukodystrophy, hypomyelinating, 20, MIM# 619071"],"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":["KIAA1630","MGC3090","DKFZP762M115","CMT2Q"],"biotype":"protein_coding","hgnc_id":"HGNC:23537","gene_name":"dehydrogenase E1 and transketolase domain containing 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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":["CDGS","CDG1a","PMI","PMI1"],"biotype":"protein_coding","hgnc_id":"HGNC:9115","gene_name":"phosphomannomutase 2","omim_gene":["601785"],"alias_name":["phosphomannose isomerase 1","mannose-6-phosphate isomerase"],"gene_symbol":"PMM2","hgnc_symbol":"PMM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:8882680-8943188","ensembl_id":"ENSG00000140650"}},"GRch38":{"90":{"location":"16:8788823-8849331","ensembl_id":"ENSG00000140650"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PMM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301507","20301289"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Neonatal-onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, 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two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body.\r\n\r\nThis is a consensus panel used by RMH and VCGS.\r\n\r\nPlease refer to the Hair Disorders panel for disorders primarily affecting hair.","status":"public","version":"0.110","version_created":"2026-03-31T16:43:36.155380+11:00","relevant_disorders":["Ectodermal dysplasia","HP:0000968"],"stats":{"number_of_genes":61,"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":["SMAP-5","FinGER5"],"biotype":"protein_coding","hgnc_id":"HGNC:24877","gene_name":"Yip1 domain family member 5","omim_gene":["611483"],"alias_name":null,"gene_symbol":"YIPF5","hgnc_symbol":"YIPF5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:143537723-143550278","ensembl_id":"ENSG00000145817"}},"GRch38":{"90":{"location":"5:144158159-144170714","ensembl_id":"ENSG00000145817"}}},"hgnc_date_symbol_changed":"2005-07-04"},"entity_type":"gene","entity_name":"YIPF5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33164986"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3093,"hash_id":null,"name":"Monogenic Diabetes","disease_group":"Endocrine 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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":["WIPI3"],"biotype":"protein_coding","hgnc_id":"HGNC:25072","gene_name":"WD repeat domain 45B","omim_gene":["609226"],"alias_name":null,"gene_symbol":"WDR45B","hgnc_symbol":"WDR45B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:80572438-80606429","ensembl_id":"ENSG00000141580"}},"GRch38":{"90":{"location":"17:82614562-82648553","ensembl_id":"ENSG00000141580"}}},"hgnc_date_symbol_changed":"2013-01-11"},"entity_type":"gene","entity_name":"WDR45B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 (3), Autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. 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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":["S1P","KIAA0091","SKI-1","PCSK8"],"biotype":"protein_coding","hgnc_id":"HGNC:15456","gene_name":"membrane bound transcription factor peptidase, site 1","omim_gene":["603355"],"alias_name":["subtilisin kexin isozyme 1","site-1 protease"],"gene_symbol":"MBTPS1","hgnc_symbol":"MBTPS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:84087368-84150511","ensembl_id":"ENSG00000140943"}},"GRch38":{"90":{"location":"16:84053761-84116906","ensembl_id":"ENSG00000140943"}}},"hgnc_date_symbol_changed":"2001-03-30"},"entity_type":"gene","entity_name":"MBTPS1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32857899","32420688","30046013"],"evidence":["Expert Review Amber","Literature","Expert Review"],"phenotypes":["?Spondyloepiphyseal dysplasia, Kondo-Fu type, MIM #618392"],"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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Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2698","gene_name":"dihydrolipoamide branched chain transacylase E2","omim_gene":["248610"],"alias_name":["dihydrolipoyllysine-residue (2-methylpropanoyl)transferase","lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial"],"gene_symbol":"DBT","hgnc_symbol":"DBT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:100652475-100715390","ensembl_id":"ENSG00000137992"}},"GRch38":{"90":{"location":"1:100186919-100249834","ensembl_id":"ENSG00000137992"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"DBT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Maple syrup urine disease, type II, 248600 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4267","gene_name":"growth hormone secretagogue receptor","omim_gene":["601898"],"alias_name":null,"gene_symbol":"GHSR","hgnc_symbol":"GHSR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:172162923-172166246","ensembl_id":"ENSG00000121853"}},"GRch38":{"90":{"location":"3:172445133-172448456","ensembl_id":"ENSG00000121853"}}},"hgnc_date_symbol_changed":"1997-09-12"},"entity_type":"gene","entity_name":"GHSR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19789204","25557026","16511605","39785833","25557026","37443653","38838658","37019085","30753492","36714562"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Growth hormone deficiency, isolated partial (615925)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3236,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.208","version_created":"2026-04-02T15:15:10.893013+11:00","relevant_disorders":["Hypopituitarism","HP:0040075"],"stats":{"number_of_genes":118,"number_of_strs":1,"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":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AGAS","ARGA","NAT7"],"biotype":"protein_coding","hgnc_id":"HGNC:17996","gene_name":"N-acetylglutamate synthase","omim_gene":["608300"],"alias_name":null,"gene_symbol":"NAGS","hgnc_symbol":"NAGS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42081914-42086431","ensembl_id":"ENSG00000161653"}},"GRch38":{"90":{"location":"17:44004546-44009063","ensembl_id":"ENSG00000161653"}}},"hgnc_date_symbol_changed":"2004-12-03"},"entity_type":"gene","entity_name":"NAGS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["N-acetylglutamate synthetase 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. 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":["MGC33302"],"biotype":"protein_coding","hgnc_id":"HGNC:28486","gene_name":"major facilitator superfamily domain containing 8","omim_gene":["611124"],"alias_name":null,"gene_symbol":"MFSD8","hgnc_symbol":"MFSD8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:128838960-128887150","ensembl_id":"ENSG00000164073"}},"GRch38":{"90":{"location":"4:127917732-127966034","ensembl_id":"ENSG00000164073"}}},"hgnc_date_symbol_changed":"2007-02-19"},"entity_type":"gene","entity_name":"MFSD8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Ceroid lipofuscinosis, neuronal"],"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":["FOG2","hFOG-2","ZNF89B","ZC2HC11B"],"biotype":"protein_coding","hgnc_id":"HGNC:16700","gene_name":"zinc finger protein, FOG family member 2","omim_gene":["603693"],"alias_name":null,"gene_symbol":"ZFPM2","hgnc_symbol":"ZFPM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:106330920-106816760","ensembl_id":"ENSG00000169946"}},"GRch38":{"90":{"location":"8:104590733-105804532","ensembl_id":"ENSG00000169946"}}},"hgnc_date_symbol_changed":"2002-11-26"},"entity_type":"gene","entity_name":"ZFPM2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Tetralogy of Fallot"],"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":["FAF"],"biotype":"protein_coding","hgnc_id":"HGNC:3587","gene_name":"Fanconi anemia complementation group F","omim_gene":["613897"],"alias_name":null,"gene_symbol":"FANCF","hgnc_symbol":"FANCF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:22644079-22647387","ensembl_id":"ENSG00000183161"}},"GRch38":{"90":{"location":"11:22622519-22626787","ensembl_id":"ENSG00000183161"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCF","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Fanconi anaemia"],"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":["SRA1"],"biotype":"protein_coding","hgnc_id":"HGNC:11204","gene_name":"SRY-box 9","omim_gene":["608160"],"alias_name":null,"gene_symbol":"SOX9","hgnc_symbol":"SOX9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:70117161-70122561","ensembl_id":"ENSG00000125398"}},"GRch38":{"90":{"location":"17:72121020-72126420","ensembl_id":"ENSG00000125398"}}},"hgnc_date_symbol_changed":"1992-09-25"},"entity_type":"gene","entity_name":"SOX9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Campomelic dysplasia"],"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":["FLJ13995","CGI-04","mt-TyrRS"],"biotype":"protein_coding","hgnc_id":"HGNC:24249","gene_name":"tyrosyl-tRNA synthetase 2","omim_gene":["610957"],"alias_name":["tyrosine tRNA ligase 2, mitochondrial"],"gene_symbol":"YARS2","hgnc_symbol":"YARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:32880424-32908836","ensembl_id":"ENSG00000139131"}},"GRch38":{"90":{"location":"12:32727490-32755902","ensembl_id":"ENSG00000139131"}}},"hgnc_date_symbol_changed":"2005-06-28"},"entity_type":"gene","entity_name":"YARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23918765","22504945","20598274","24430573","24344687"],"evidence":["Expert Review Green","Yorkshire and North East GLH","NHS GMS","Wessex and West Midlands GLH","North West GLH","London South GLH"],"phenotypes":["Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561","sideroblastic anaemia","muscle atrophy","myopathy","lactic acidosis","Hypertrophic cardiomyopathy","Hepatomegaly","Decreased cytochrome C oxidase activity"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3366,"hash_id":null,"name":"Red cell disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.","status":"public","version":"1.52","version_created":"2026-03-28T15:18:36.006857+11:00","relevant_disorders":["Abnormal erythrocyte morphology","HP:0001877"],"stats":{"number_of_genes":116,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Cav1.1","hypoPP"],"biotype":"protein_coding","hgnc_id":"HGNC:1397","gene_name":"calcium voltage-gated channel subunit alpha1 S","omim_gene":["114208"],"alias_name":null,"gene_symbol":"CACNA1S","hgnc_symbol":"CACNA1S","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:201008642-201081694","ensembl_id":"ENSG00000081248"}},"GRch38":{"90":{"location":"1:201039512-201112566","ensembl_id":"ENSG00000081248"}}},"hgnc_date_symbol_changed":"1992-03-27"},"entity_type":"gene","entity_name":"CACNA1S","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["20301325"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["{Malignant hyperthermia susceptibility 5} MIM#601887"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3378,"hash_id":null,"name":"Malignant Hyperthermia Susceptibility","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that are established causes of malignant hyperthermia susceptibility (MHS). It can be used when the clinical and laboratory findings suggest a diagnosis of MHS, such as a positive muscle biopsy contracture test or positive family history. This panel is used by the Royal Melbourne Hospital.\r\n\r\nThe Skeletal Muscle Channelopathies, Rhabdomyolysis, or Myopathy panels may considered where the clinical presentation is less clearly indicative of malignant hyperthermia.","status":"public","version":"1.8","version_created":"2024-05-10T10:03:11.680206+10:00","relevant_disorders":["Malignant hyperthermia","HP:0002047; Rhabdomyolysis","HP:0003201"],"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":[]},{"gene_data":{"alias":["PI3K"],"biotype":"protein_coding","hgnc_id":"HGNC:8975","gene_name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha","omim_gene":["171834"],"alias_name":null,"gene_symbol":"PIK3CA","hgnc_symbol":"PIK3CA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:178865902-178957881","ensembl_id":"ENSG00000121879"}},"GRch38":{"90":{"location":"3:179148114-179240093","ensembl_id":"ENSG00000121879"}}},"hgnc_date_symbol_changed":"1994-07-15"},"entity_type":"gene","entity_name":"PIK3CA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22499344","23100325","22729224","29446767"],"evidence":["Expert Review Green","Genomics England PanelApp","NHS GMS"],"phenotypes":["Vascular malformations","PIK3CA-related overgrowth syndromes","CLAPO syndrome, somatic 613089","CLOVE syndrome, somatic 612918","Nevus, epidermal, somatic 162900"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["somatic"],"panel":{"id":3472,"hash_id":null,"name":"Mosaic skin disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"1.15","version_created":"2025-11-28T10:17:48.863556+11:00","relevant_disorders":["Abnormality of skin pigmentation","HP:0001000"],"stats":{"number_of_genes":44,"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":"Tasmanian Clinical Genetics Service","slug":"tasmanian-clinical-genetics-service","description":"Tasmanian Clinical Genetics Service"},{"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:6217","gene_name":"katanin regulatory subunit B1","omim_gene":["602703"],"alias_name":null,"gene_symbol":"KATNB1","hgnc_symbol":"KATNB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:57769642-57791162","ensembl_id":"ENSG00000140854"}},"GRch38":{"90":{"location":"16:57735730-57757250","ensembl_id":"ENSG00000140854"}}},"hgnc_date_symbol_changed":"1999-08-25"},"entity_type":"gene","entity_name":"KATNB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25521379","26640080","25521378"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534"],"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":["M-SemaK","KIAA0331","coll-5"],"biotype":"protein_coding","hgnc_id":"HGNC:10727","gene_name":"semaphorin 3E","omim_gene":["608166"],"alias_name":["M-sema H"],"gene_symbol":"SEMA3E","hgnc_symbol":"SEMA3E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:82993222-83278326","ensembl_id":"ENSG00000170381"}},"GRch38":{"90":{"location":"7:83363906-83649010","ensembl_id":"ENSG00000170381"}}},"hgnc_date_symbol_changed":"1999-06-25"},"entity_type":"gene","entity_name":"SEMA3E","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["31691538","31464029","15235037"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["CHARGE syndrome  - MIM#214800"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","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":["hRad50","RAD50-2"],"biotype":"protein_coding","hgnc_id":"HGNC:9816","gene_name":"RAD50 double strand break repair protein","omim_gene":["604040"],"alias_name":null,"gene_symbol":"RAD50","hgnc_symbol":"RAD50","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:131891711-131980313","ensembl_id":"ENSG00000113522"}},"GRch38":{"90":{"location":"5:132556019-132646344","ensembl_id":"ENSG00000113522"}}},"hgnc_date_symbol_changed":"1999-07-23"},"entity_type":"gene","entity_name":"RAD50","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 19409520","32212377","33378670"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Nijmegen breakage syndrome-like disorder, MIM# 613078","MONDO:0013118"],"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":["bA465L10.2","NIF-1"],"biotype":"protein_coding","hgnc_id":"HGNC:15807","gene_name":"zinc finger protein 335","omim_gene":["610827"],"alias_name":["NRC-interacting factor 1"],"gene_symbol":"ZNF335","hgnc_symbol":"ZNF335","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:44577292-44600833","ensembl_id":"ENSG00000198026"}},"GRch38":{"90":{"location":"20:45948653-45972172","ensembl_id":"ENSG00000198026"}}},"hgnc_date_symbol_changed":"2001-09-17"},"entity_type":"gene","entity_name":"ZNF335","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23178126","27540107","29652087","34982360"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Microcephaly 10, primary, autosomal recessive (MIM#615095)"],"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":["RING10","D6S216E","PSMB5i","beta5i"],"biotype":"protein_coding","hgnc_id":"HGNC:9545","gene_name":"proteasome subunit beta 8","omim_gene":["177046"],"alias_name":null,"gene_symbol":"PSMB8","hgnc_symbol":"PSMB8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:32808494-32812480","ensembl_id":"ENSG00000204264"}},"GRch38":{"90":{"location":"6:32840717-32844703","ensembl_id":"ENSG00000204264"}}},"hgnc_date_symbol_changed":"1992-06-25"},"entity_type":"gene","entity_name":"PSMB8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21129723","21881205","21852578","21953331"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Proteasome-associated autoinflammatory syndrome 1, MIM# 256040","MONDO:0054698"],"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":["Kv8.2"],"biotype":"protein_coding","hgnc_id":"HGNC:19698","gene_name":"potassium voltage-gated channel modifier subfamily V member 2","omim_gene":["607604"],"alias_name":null,"gene_symbol":"KCNV2","hgnc_symbol":"KCNV2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:2717502-2730037","ensembl_id":"ENSG00000168263"}},"GRch38":{"90":{"location":"9:2717502-2730037","ensembl_id":"ENSG00000168263"}}},"hgnc_date_symbol_changed":"2002-11-20"},"entity_type":"gene","entity_name":"KCNV2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16909397","18235024","21882291","15722315","30820446","21882291","23115240"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Retinal cone dystrophy 3B MIM#610356"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ACAD2"],"biotype":"protein_coding","hgnc_id":"HGNC:6186","gene_name":"isovaleryl-CoA dehydrogenase","omim_gene":["607036"],"alias_name":null,"gene_symbol":"IVD","hgnc_symbol":"IVD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:40697686-40728146","ensembl_id":"ENSG00000128928"}},"GRch38":{"90":{"location":"15:40405795-40435947","ensembl_id":"ENSG00000128928"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"IVD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29152456","15486829"],"evidence":["Expert Review Green","Literature","Victorian Clinical Genetics Services"],"phenotypes":["isovaleric acidemia MONDO:0009475"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12299","gene_name":"thyrotropin releasing hormone receptor","omim_gene":["188545"],"alias_name":null,"gene_symbol":"TRHR","hgnc_symbol":"TRHR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:110098850-110131813","ensembl_id":"ENSG00000174417"}},"GRch38":{"90":{"location":"8:109086621-109119584","ensembl_id":"ENSG00000174417"}}},"hgnc_date_symbol_changed":"1993-11-08"},"entity_type":"gene","entity_name":"TRHR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9141550","19213692","26735259","28419241","32319661"],"evidence":["Expert Review Green","BabySeq Category C gene"],"phenotypes":["Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SEC63L","PRO2507","ERdj2","DNAJC23"],"biotype":"protein_coding","hgnc_id":"HGNC:21082","gene_name":"SEC63 homolog, protein translocation regulator","omim_gene":["608648"],"alias_name":null,"gene_symbol":"SEC63","hgnc_symbol":"SEC63","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:108188960-108279393","ensembl_id":"ENSG00000025796"}},"GRch38":{"90":{"location":"6:107867756-107958189","ensembl_id":"ENSG00000025796"}}},"hgnc_date_symbol_changed":"2003-05-15"},"entity_type":"gene","entity_name":"SEC63","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Polycystic liver disease"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5008","gene_name":"3-hydroxy-3-methylglutaryl-CoA synthase 2","omim_gene":["600234"],"alias_name":null,"gene_symbol":"HMGCS2","hgnc_symbol":"HMGCS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:120290619-120311528","ensembl_id":"ENSG00000134240"}},"GRch38":{"90":{"location":"1:119747996-119768905","ensembl_id":"ENSG00000134240"}}},"hgnc_date_symbol_changed":"1994-05-17"},"entity_type":"gene","entity_name":"HMGCS2","confidence_level":"2","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":["PMID: 32259399, 32470406"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["HMG-CoA synthase-2 deficiency MIM#605911"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["for review","treatable","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BCNS"],"biotype":"protein_coding","hgnc_id":"HGNC:9585","gene_name":"patched 1","omim_gene":["601309"],"alias_name":null,"gene_symbol":"PTCH1","hgnc_symbol":"PTCH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:98205262-98279339","ensembl_id":"ENSG00000185920"}},"GRch38":{"90":{"location":"9:95442980-95517057","ensembl_id":"ENSG00000185920"}}},"hgnc_date_symbol_changed":"2006-09-26"},"entity_type":"gene","entity_name":"PTCH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["20301330"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["nevoid basal cell carcinoma syndrome MONDO:0007187"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4093,"hash_id":null,"name":"Facial papules","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes associated with diseases where facial papules and lesions can be a predominant feature of the phenotype, including coarse facies. It was developed by Prof Ingrid Winship from Royal Melbourne Hospital for use in the Genodermatosis clinic.","status":"public","version":"1.1","version_created":"2026-01-12T09:37:15.457047+11:00","relevant_disorders":["Papule HP:0200034"],"stats":{"number_of_genes":22,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["AU"],"biotype":"protein_coding","hgnc_id":"HGNC:5172","gene_name":"HR, lysine demethylase and nuclear receptor corepressor","omim_gene":["602302"],"alias_name":null,"gene_symbol":"HR","hgnc_symbol":"HR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:21971928-21990897","ensembl_id":"ENSG00000168453"}},"GRch38":{"90":{"location":"8:22114415-22133384","ensembl_id":"ENSG00000168453"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"HR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["12271294","9856480","10205263","17869066"],"evidence":["Expert Review Green","Literature"],"phenotypes":["atrichia with papular lesions MONDO:0008847"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4093,"hash_id":null,"name":"Facial papules","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes associated with diseases where facial papules and lesions can be a predominant feature of the phenotype, including coarse facies. It was developed by Prof Ingrid Winship from Royal Melbourne Hospital for use in the Genodermatosis clinic.","status":"public","version":"1.1","version_created":"2026-01-12T09:37:15.457047+11:00","relevant_disorders":["Papule HP:0200034"],"stats":{"number_of_genes":22,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MMAC1","TEP1","PTEN1"],"biotype":"protein_coding","hgnc_id":"HGNC:9588","gene_name":"phosphatase and tensin homolog","omim_gene":["601728"],"alias_name":["mutated in multiple advanced cancers 1"],"gene_symbol":"PTEN","hgnc_symbol":"PTEN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:89622870-89731687","ensembl_id":"ENSG00000171862"}},"GRch38":{"90":{"location":"10:87863113-87971930","ensembl_id":"ENSG00000171862"}}},"hgnc_date_symbol_changed":"1997-04-21"},"entity_type":"gene","entity_name":"PTEN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["20301661"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["PTEN hamartoma tumor syndrome MONDO:0017623"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4093,"hash_id":null,"name":"Facial papules","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes associated with diseases where facial papules and lesions can be a predominant feature of the phenotype, including coarse facies. It was developed by Prof Ingrid Winship from Royal Melbourne Hospital for use in the Genodermatosis clinic.","status":"public","version":"1.1","version_created":"2026-01-12T09:37:15.457047+11:00","relevant_disorders":["Papule HP:0200034"],"stats":{"number_of_genes":22,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PAI"],"biotype":"protein_coding","hgnc_id":"HGNC:8583","gene_name":"serpin family E member 1","omim_gene":["173360"],"alias_name":["plasminogen activator inhibitor, type I"],"gene_symbol":"SERPINE1","hgnc_symbol":"SERPINE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:100770370-100782547","ensembl_id":"ENSG00000106366"}},"GRch38":{"90":{"location":"7:101127089-101139266","ensembl_id":"ENSG00000106366"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"SERPINE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15650551","9207454"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Plasminogen activator inhibitor-1 deficiency, MIM# 613329"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":["MGC22916"],"biotype":"protein_coding","hgnc_id":"HGNC:21701","gene_name":"BRCA1 associated ATM activator 1","omim_gene":["614506"],"alias_name":["BRCA1-associated protein required for ATM activation protein 1"],"gene_symbol":"BRAT1","hgnc_symbol":"BRAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:2577511-2595361","ensembl_id":"ENSG00000106009"}},"GRch38":{"90":{"location":"7:2537877-2555727","ensembl_id":"ENSG00000106009"}}},"hgnc_date_symbol_changed":"2011-03-22"},"entity_type":"gene","entity_name":"BRAT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26483087","26494257","27282546","23035047","25319849","25500575"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Rigidity and multifocal seizure syndrome, lethal neonatal, MIM#614498","Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0045"],"biotype":"protein_coding","hgnc_id":"HGNC:12306","gene_name":"thyroid hormone receptor interactor 12","omim_gene":["604506"],"alias_name":null,"gene_symbol":"TRIP12","hgnc_symbol":"TRIP12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:230628554-230787955","ensembl_id":"ENSG00000153827"}},"GRch38":{"90":{"location":"2:229763838-229923239","ensembl_id":"ENSG00000153827"}}},"hgnc_date_symbol_changed":"1999-03-19"},"entity_type":"gene","entity_name":"TRIP12","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["36117209"],"evidence":["Expert Review Red","Expert Review","Expert list"],"phenotypes":["Intellectual developmental disorder, autosomal dominant 49, MIM# 617752"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4290,"hash_id":null,"name":"Speech apraxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Childhood apraxia of speech (CAS; synonymous with speech apraxia/dyspraxia or verbal apraxia/dyspraxia) is a non-progressive neurodevelopmental disorder with a primary presentation of speech planning and programming disorder.\r\n\r\nCAS involves difficulty producing sequences of sounds with accuracy and correct prosody, resulting in poor speech intelligibility. Individuals with CAS typically have very delayed development of first spoken words. Other common co-occurring features may include fine and gross motor impairment, language impairment, learning difficulties, intellectual disability, autism and attention deficit hyperactivity disorder. Other associated features may include hypotonia, seizures, and facial dysmorphism/dysmorphology.\r\n \r\nPMID: 38366112 summarises three gene discovery cohort studies of individuals with CAS. Diagnostic yield ranged between 26-42%.\r\n\r\nThe aetiology of CAS is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia and Ataxia panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Angela Morgan, Michael Hildebrand, Thomas Scerri, David Amor and team for their contribution to the development of this panel.","status":"public","version":"1.28","version_created":"2026-03-06T16:38:48.591739+11:00","relevant_disorders":[],"stats":{"number_of_genes":35,"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":["MRTF-B","FLJ31823"],"biotype":"protein_coding","hgnc_id":"HGNC:29819","gene_name":"MKL1/myocardin like 2","omim_gene":["609463"],"alias_name":null,"gene_symbol":"MKL2","hgnc_symbol":"MKL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:14165178-14360630","ensembl_id":"ENSG00000186260"}},"GRch38":{"90":{"location":"16:14071321-14266773","ensembl_id":"ENSG00000186260"}}},"hgnc_date_symbol_changed":"2004-08-25"},"entity_type":"gene","entity_name":"MKL2","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["29463886","37013900","38366112"],"evidence":["Expert Review Amber","Expert Review","Expert list"],"phenotypes":["Neurodevelopmental disorder (MONDO:0700092), MKL2-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4290,"hash_id":null,"name":"Speech apraxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Childhood apraxia of speech (CAS; synonymous with speech apraxia/dyspraxia or verbal apraxia/dyspraxia) is a non-progressive neurodevelopmental disorder with a primary presentation of speech planning and programming disorder.\r\n\r\nCAS involves difficulty producing sequences of sounds with accuracy and correct prosody, resulting in poor speech intelligibility. Individuals with CAS typically have very delayed development of first spoken words. Other common co-occurring features may include fine and gross motor impairment, language impairment, learning difficulties, intellectual disability, autism and attention deficit hyperactivity disorder. Other associated features may include hypotonia, seizures, and facial dysmorphism/dysmorphology.\r\n \r\nPMID: 38366112 summarises three gene discovery cohort studies of individuals with CAS. Diagnostic yield ranged between 26-42%.\r\n\r\nThe aetiology of CAS is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia and Ataxia panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Angela Morgan, Michael Hildebrand, Thomas Scerri, David Amor and team for their contribution to the development of this panel.","status":"public","version":"1.28","version_created":"2026-03-06T16:38:48.591739+11:00","relevant_disorders":[],"stats":{"number_of_genes":35,"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":["MDA-5","Hlcd","MDA5","IDDM19"],"biotype":"protein_coding","hgnc_id":"HGNC:18873","gene_name":"interferon induced with helicase C domain 1","omim_gene":["606951"],"alias_name":["helicard","melanoma differentiation-associated gene 5"],"gene_symbol":"IFIH1","hgnc_symbol":"IFIH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:163123589-163175213","ensembl_id":"ENSG00000115267"}},"GRch38":{"90":{"location":"2:162267079-162318703","ensembl_id":"ENSG00000115267"}}},"hgnc_date_symbol_changed":"2004-06-25"},"entity_type":"gene","entity_name":"IFIH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34185153","24686847"],"evidence":["Expert Review Green","Expert Review Green","Expert Review","Victorian Clinical Genetics Services"],"phenotypes":["Disorders of ectonucleotide and nucleic acid metabolism","Aicardi-Goutieres syndrome 7, MIM#615846","Early-onset Inflammatory Bowel Disease"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":4294,"hash_id":null,"name":"Nucleotide metabolism disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause inborn errors of purine, pyrimidine, and nucleic acid metabolism.\r\n\r\nIt is a component of the Metabolic Disorders Superpanel.","status":"public","version":"0.8","version_created":"2025-05-08T15:56:43.556103+10:00","relevant_disorders":[],"stats":{"number_of_genes":44,"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"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["16247010","15814878"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Dyskeratosis congenita MONDO:0015780"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":4457,"hash_id":null,"name":"Hereditary Pigmentary Disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum","status":"public","version":"1.5","version_created":"2026-01-02T16:51:24.217185+11:00","relevant_disorders":["Abnormality of skin pigmentation","HP:0001000"],"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"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FMRP","FRAXA","MGC87458"],"biotype":"protein_coding","hgnc_id":"HGNC:3775","gene_name":"fragile X mental retardation 1","omim_gene":["309550"],"alias_name":null,"gene_symbol":"FMR1","hgnc_symbol":"FMR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:146993469-147032645","ensembl_id":"ENSG00000102081"}},"GRch38":{"90":{"location":"X:147911951-147951125","ensembl_id":"ENSG00000102081"}}},"hgnc_date_symbol_changed":"1992-01-17"},"entity_type":"str","entity_name":"FMR1_FXS_CGG","confidence_level":"3","penetrance":null,"publications":["33795824","25227148","1710175","2031184"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Fragile X syndrome\tMIM#300624"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","repeated_sequence":"CGG","chromosome":"X","grch37_coordinates":[146993569,146993628],"grch38_coordinates":[147912051,147912110],"normal_repeats":44,"pathogenic_repeats":200,"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":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}}]}