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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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":["S15A"],"biotype":"protein_coding","hgnc_id":"HGNC:10389","gene_name":"ribosomal protein S15a","omim_gene":["603674"],"alias_name":null,"gene_symbol":"RPS15A","hgnc_symbol":"RPS15A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:18792617-18801705","ensembl_id":"ENSG00000134419"}},"GRch38":{"90":{"location":"16:18781295-18790383","ensembl_id":"ENSG00000134419"}}},"hgnc_date_symbol_changed":"1998-08-18"},"entity_type":"gene","entity_name":"RPS15A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["27909223"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Diamond-Blackfan anemia 20, MIM# 618313"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:9369","gene_name":"DNA primase subunit 1","omim_gene":["176635"],"alias_name":null,"gene_symbol":"PRIM1","hgnc_symbol":"PRIM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:57125380-57146157","ensembl_id":"ENSG00000198056"}},"GRch38":{"90":{"location":"12:56731596-56752373","ensembl_id":"ENSG00000198056"}}},"hgnc_date_symbol_changed":"1990-07-26"},"entity_type":"gene","entity_name":"PRIM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33060134"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deep intronic","founder"],"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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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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":["DKFZp434E2220"],"biotype":"protein_coding","hgnc_id":"HGNC:25265","gene_name":"zinc finger CCHC-type containing 8","omim_gene":["616381"],"alias_name":null,"gene_symbol":"ZCCHC8","hgnc_symbol":"ZCCHC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:122957417-122985518","ensembl_id":"ENSG00000033030"}},"GRch38":{"90":{"location":"12:122471600-122501073","ensembl_id":"ENSG00000033030"}}},"hgnc_date_symbol_changed":"2004-02-17"},"entity_type":"gene","entity_name":"ZCCHC8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31488579"],"evidence":["Expert Review Green","Literature"],"phenotypes":["pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":["EBI"],"biotype":"protein_coding","hgnc_id":"HGNC:11585","gene_name":"transducin beta like 1 X-linked","omim_gene":["300196"],"alias_name":null,"gene_symbol":"TBL1X","hgnc_symbol":"TBL1X","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:9431335-9687780","ensembl_id":"ENSG00000101849"}},"GRch38":{"90":{"location":"X:9463295-9719743","ensembl_id":"ENSG00000101849"}}},"hgnc_date_symbol_changed":"2002-05-24"},"entity_type":"gene","entity_name":"TBL1X","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 27603907"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hypothyroidism, congenital, nongoitrous, 8 MIM#301033"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":["S20"],"biotype":"protein_coding","hgnc_id":"HGNC:10405","gene_name":"ribosomal protein S20","omim_gene":["603682"],"alias_name":null,"gene_symbol":"RPS20","hgnc_symbol":"RPS20","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:56979854-56987069","ensembl_id":"ENSG00000008988"}},"GRch38":{"90":{"location":"8:56067295-56074581","ensembl_id":"ENSG00000008988"}}},"hgnc_date_symbol_changed":"1998-08-18"},"entity_type":"gene","entity_name":"RPS20","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"Other","publications":["32790018"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Diamond Blackfan anaemia"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":["KIAA1256","SWAP","SH3P18","SWA","PRO2015"],"biotype":"protein_coding","hgnc_id":"HGNC:6184","gene_name":"intersectin 2","omim_gene":["604464"],"alias_name":["SH3 domain protein 1B","SH3P18-like WASP associated protein"],"gene_symbol":"ITSN2","hgnc_symbol":"ITSN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:24425733-24583583","ensembl_id":"ENSG00000198399"}},"GRch38":{"90":{"location":"2:24202864-24360714","ensembl_id":"ENSG00000198399"}}},"hgnc_date_symbol_changed":"2000-03-29"},"entity_type":"gene","entity_name":"ITSN2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 29773874"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Nephrotic syndrome MONDO:0005377, ITSN2-related"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":["RAI","IASPP"],"biotype":"protein_coding","hgnc_id":"HGNC:18838","gene_name":"protein phosphatase 1 regulatory subunit 13 like","omim_gene":["607463"],"alias_name":null,"gene_symbol":"PPP1R13L","hgnc_symbol":"PPP1R13L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:45882892-45909607","ensembl_id":"ENSG00000104881"}},"GRch38":{"90":{"location":"19:45379634-45406349","ensembl_id":"ENSG00000104881"}}},"hgnc_date_symbol_changed":"2004-11-26"},"entity_type":"gene","entity_name":"PPP1R13L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32666529","28864777"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519"],"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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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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":["TAO1","KIAA0881","PSK","PSK1","TAO2","MAP3K17"],"biotype":"protein_coding","hgnc_id":"HGNC:16835","gene_name":"TAO kinase 2","omim_gene":["613199"],"alias_name":null,"gene_symbol":"TAOK2","hgnc_symbol":"TAOK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:29984962-30003582","ensembl_id":"ENSG00000149930"}},"GRch38":{"90":{"location":"16:29973641-29992261","ensembl_id":"ENSG00000149930"}}},"hgnc_date_symbol_changed":"2004-10-20"},"entity_type":"gene","entity_name":"TAOK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28385331","29467497","39737487"],"evidence":["Expert Review Green","Literature"],"phenotypes":["neurodevelopmental disorder, MONDO:0700092, TAOK2-related","Generalized verrucosis","abnormal T cell activation","autism"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":["OP-1"],"biotype":"protein_coding","hgnc_id":"HGNC:1074","gene_name":"bone morphogenetic protein 7","omim_gene":["112267"],"alias_name":["osteogenic protein 1"],"gene_symbol":"BMP7","hgnc_symbol":"BMP7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:55743804-55841685","ensembl_id":"ENSG00000101144"}},"GRch38":{"90":{"location":"20:57168748-57266629","ensembl_id":"ENSG00000101144"}}},"hgnc_date_symbol_changed":"1991-06-05"},"entity_type":"gene","entity_name":"BMP7","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other","publications":["32266521","24429398","33434492"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Congenital anomaly of kidney and urinary tract, MONDO:0019719, BMP7-related","Isolated craniosynostosis, MONDO:0015337, BMP7-related","Mayer-Rokitansky-Kuster-Hauser syndrome, MONDO:0017771, BMP7-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":["PKACb"],"biotype":"protein_coding","hgnc_id":"HGNC:9381","gene_name":"protein kinase cAMP-activated catalytic subunit beta","omim_gene":["176892"],"alias_name":null,"gene_symbol":"PRKACB","hgnc_symbol":"PRKACB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:84543745-84704181","ensembl_id":"ENSG00000142875"}},"GRch38":{"90":{"location":"1:84078062-84238498","ensembl_id":"ENSG00000142875"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PRKACB","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["33058759"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cardioacrofacial dysplasia 2, MIM# 619143","Postaxial hand polydactyly","Postaxial foot polydactyly","Common atrium","Atrioventricular canal defect","Narrow chest","Abnormality of the teeth","Intellectual disability"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":["SRm300","SRL300","KIAA0324","Cwc21"],"biotype":"protein_coding","hgnc_id":"HGNC:16639","gene_name":"serine/arginine repetitive matrix 2","omim_gene":["606032"],"alias_name":null,"gene_symbol":"SRRM2","hgnc_symbol":"SRRM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:2802330-2822539","ensembl_id":"ENSG00000167978"}},"GRch38":{"90":{"location":"16:2752329-2772538","ensembl_id":"ENSG00000167978"}}},"hgnc_date_symbol_changed":"2001-09-24"},"entity_type":"gene","entity_name":"SRRM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33057194"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder, autosomal dominant 72, MIM#\t620439"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":["MU","dJ303A1.3"],"biotype":"protein_coding","hgnc_id":"HGNC:18561","gene_name":"biogenesis of lysosomal organelles complex 1 subunit 5","omim_gene":["607289"],"alias_name":null,"gene_symbol":"BLOC1S5","hgnc_symbol":"BLOC1S5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:8013800-8064647","ensembl_id":"ENSG00000188428"}},"GRch38":{"90":{"location":"6:8013567-8064414","ensembl_id":"ENSG00000188428"}}},"hgnc_date_symbol_changed":"2012-08-01"},"entity_type":"gene","entity_name":"BLOC1S5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32565547"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hermansky–Pudlak syndrome 11, MIM#619172"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":["EMC5"],"biotype":"protein_coding","hgnc_id":"HGNC:28100","gene_name":"membrane magnesium transporter 1","omim_gene":null,"alias_name":["ER membrane protein complex subunit 5"],"gene_symbol":"MMGT1","hgnc_symbol":"MMGT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:135044229-135056222","ensembl_id":"ENSG00000169446"}},"GRch38":{"90":{"location":"X:135962070-135974063","ensembl_id":"ENSG00000169446"}}},"hgnc_date_symbol_changed":"2008-11-21"},"entity_type":"gene","entity_name":"MMGT1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33057194"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder MONDO:0700092, MMGT1-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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It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":["P84","HPR1"],"biotype":"protein_coding","hgnc_id":"HGNC:19070","gene_name":"THO complex 1","omim_gene":["606930"],"alias_name":null,"gene_symbol":"THOC1","hgnc_symbol":"THOC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:214520-268050","ensembl_id":"ENSG00000079134"}},"GRch38":{"90":{"location":"18:214520-268050","ensembl_id":"ENSG00000079134"}}},"hgnc_date_symbol_changed":"2002-12-09"},"entity_type":"gene","entity_name":"THOC1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32776944"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Hearing loss disorder, MONDO:0005365, THOC1-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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6645","gene_name":"prickle planar cell polarity protein 3","omim_gene":["300111"],"alias_name":null,"gene_symbol":"PRICKLE3","hgnc_symbol":"PRICKLE3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:49031151-49042845","ensembl_id":"ENSG00000012211"}},"GRch38":{"90":{"location":"X:49175264-49186528","ensembl_id":"ENSG00000012211"}}},"hgnc_date_symbol_changed":"2007-09-18"},"entity_type":"gene","entity_name":"PRICKLE3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["32516135"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Leber’s hereditary optic neuropathy MIM#535000"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":["KIAA1839","FLJ20008","RBM40","SNRNP65"],"biotype":"protein_coding","hgnc_id":"HGNC:18666","gene_name":"RNA binding region (RNP1, RRM) containing 3","omim_gene":null,"alias_name":["U11/U12 snRNP 65K"],"gene_symbol":"RNPC3","hgnc_symbol":"RNPC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:104068313-104097861","ensembl_id":"ENSG00000185946"}},"GRch38":{"90":{"location":"1:103525691-103555239","ensembl_id":"ENSG00000185946"}}},"hgnc_date_symbol_changed":"2002-09-17"},"entity_type":"gene","entity_name":"RNPC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29866761","32462814","33650182","37463572","35792517","34906446"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Pituitary hormone deficiency, combined or isolated, 7, MIM# 618160"],"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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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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":["G7"],"biotype":"protein_coding","hgnc_id":"HGNC:7328","gene_name":"mutS homolog 5","omim_gene":["603382"],"alias_name":null,"gene_symbol":"MSH5","hgnc_symbol":"MSH5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31707725-31732622","ensembl_id":"ENSG00000204410"}},"GRch38":{"90":{"location":"6:31739948-31762834","ensembl_id":"ENSG00000204410"}}},"hgnc_date_symbol_changed":"1998-03-10"},"entity_type":"gene","entity_name":"MSH5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28175301","9916805","24970489"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spermatogenic failure 74, MIM# 619937","Premature ovarian failure 13, MIM#617442"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:10852","gene_name":"serine hydroxymethyltransferase 2","omim_gene":["138450"],"alias_name":null,"gene_symbol":"SHMT2","hgnc_symbol":"SHMT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:57623110-57628718","ensembl_id":"ENSG00000182199"}},"GRch38":{"90":{"location":"12:57229327-57234935","ensembl_id":"ENSG00000182199"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"SHMT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33015733"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121","Congenital microcephaly","Infantile axial hypotonia","Spastic paraparesis","Global developmental delay","Intellectual disability","Abnormality of the corpus callosum","Abnormal cortical gyration","Hypertrophic cardiomyopathy","Abnormality of the face","Proximal placement of thumb","2-3 toe syndactyly"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":["a1","Vph1","Stv1"],"biotype":"protein_coding","hgnc_id":"HGNC:865","gene_name":"ATPase H+ transporting V0 subunit a1","omim_gene":["192130"],"alias_name":null,"gene_symbol":"ATP6V0A1","hgnc_symbol":"ATP6V0A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40610862-40674629","ensembl_id":"ENSG00000033627"}},"GRch38":{"90":{"location":"17:42458844-42522611","ensembl_id":"ENSG00000033627"}}},"hgnc_date_symbol_changed":"2002-05-10"},"entity_type":"gene","entity_name":"ATP6V0A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30842224","33057194","34909687"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 104 MIM#619970","Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":["PRO2249","CNA43","DNA43"],"biotype":"protein_coding","hgnc_id":"HGNC:18043","gene_name":"minichromosome maintenance 10 replication initiation factor","omim_gene":["609357"],"alias_name":null,"gene_symbol":"MCM10","hgnc_symbol":"MCM10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:13203554-13253104","ensembl_id":"ENSG00000065328"}},"GRch38":{"90":{"location":"10:13161554-13211104","ensembl_id":"ENSG00000065328"}}},"hgnc_date_symbol_changed":"2002-01-22"},"entity_type":"gene","entity_name":"MCM10","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32865517","33712616"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313","Susceptibility to CMV","Restrictive cardiomyopathy"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":["prp28","U5-100K","PRPF28","SNRNP100"],"biotype":"protein_coding","hgnc_id":"HGNC:17347","gene_name":"DEAD-box helicase 23","omim_gene":["612172"],"alias_name":null,"gene_symbol":"DDX23","hgnc_symbol":"DDX23","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:49223547-49246625","ensembl_id":"ENSG00000174243"}},"GRch38":{"90":{"location":"12:48829764-48852842","ensembl_id":"ENSG00000174243"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"DDX23","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33057194","34050707"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, DDX23-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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":["MRS1","UNQ2529","PX1"],"biotype":"protein_coding","hgnc_id":"HGNC:8599","gene_name":"pannexin 1","omim_gene":["608420"],"alias_name":["innexin"],"gene_symbol":"PANX1","hgnc_symbol":"PANX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:93862094-93915138","ensembl_id":"ENSG00000110218"}},"GRch38":{"90":{"location":"11:94128928-94181972","ensembl_id":"ENSG00000110218"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"PANX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["30918116","32838805","33495594"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Oocyte maturation defect 7, MIM# 618550"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":["Cctb"],"biotype":"protein_coding","hgnc_id":"HGNC:1615","gene_name":"chaperonin containing TCP1 subunit 2","omim_gene":["605139"],"alias_name":null,"gene_symbol":"CCT2","hgnc_symbol":"CCT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:69979114-69995350","ensembl_id":"ENSG00000166226"}},"GRch38":{"90":{"location":"12:69585334-69601570","ensembl_id":"ENSG00000166226"}}},"hgnc_date_symbol_changed":"1999-02-26"},"entity_type":"gene","entity_name":"CCT2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["27645772","29450543"],"evidence":["Expert Review Red","NHS GMS"],"phenotypes":["Leber's congenital amaurosis"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":["NANOS1L","NOS3","ZC2HC12C"],"biotype":"protein_coding","hgnc_id":"HGNC:22048","gene_name":"nanos C2HC-type zinc finger 3","omim_gene":["608229"],"alias_name":null,"gene_symbol":"NANOS3","hgnc_symbol":"NANOS3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:13972877-13991571","ensembl_id":"ENSG00000187556"}},"GRch38":{"90":{"location":"19:13862063-13880757","ensembl_id":"ENSG00000187556"}}},"hgnc_date_symbol_changed":"2003-12-01"},"entity_type":"gene","entity_name":"NANOS3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["25054146","24091668"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Primary ovarian insufficiency"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":["FLJ38508","mtFDH"],"biotype":"protein_coding","hgnc_id":"HGNC:26777","gene_name":"aldehyde dehydrogenase 1 family member L2","omim_gene":["613584"],"alias_name":["mitochondrial 10-formyltetrahydrofolate dehydrogenase"],"gene_symbol":"ALDH1L2","hgnc_symbol":"ALDH1L2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:105413568-105478355","ensembl_id":"ENSG00000136010"}},"GRch38":{"90":{"location":"12:105019784-105084577","ensembl_id":"ENSG00000136010"}}},"hgnc_date_symbol_changed":"2005-01-25"},"entity_type":"gene","entity_name":"ALDH1L2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31341639","33168096"],"evidence":["Expert Review Red","Literature"],"phenotypes":["pruritic ichthyosis, severe diffuse hypomyelination seen on MRI, and abnormal lipid peaks"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:5226","gene_name":"heat shock transcription factor 2 binding protein","omim_gene":["604554"],"alias_name":["heat shock factor 2 binding protein"],"gene_symbol":"HSF2BP","hgnc_symbol":"HSF2BP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:44949072-45079374","ensembl_id":"ENSG00000160207"}},"GRch38":{"90":{"location":"21:43529192-43659493","ensembl_id":"ENSG00000160207"}}},"hgnc_date_symbol_changed":"1999-08-26"},"entity_type":"gene","entity_name":"HSF2BP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32845237","35174157"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Premature ovarian failure, OMIM#619245"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":"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":["HVSP41"],"biotype":"protein_coding","hgnc_id":"HGNC:12713","gene_name":"VPS41, HOPS complex subunit","omim_gene":["605485"],"alias_name":null,"gene_symbol":"VPS41","hgnc_symbol":"VPS41","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:38762563-38971994","ensembl_id":"ENSG00000006715"}},"GRch38":{"90":{"location":"7:38722963-38932394","ensembl_id":"ENSG00000006715"}}},"hgnc_date_symbol_changed":"2000-01-31"},"entity_type":"gene","entity_name":"VPS41","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32808683","33764426"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spinocerebellar ataxia-29 (SCAR29), MIM#619389","Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay"],"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. 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