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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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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:7601","gene_name":"myosin IIIA","omim_gene":["606808"],"alias_name":null,"gene_symbol":"MYO3A","hgnc_symbol":"MYO3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:26223196-26501456","ensembl_id":"ENSG00000095777"}},"GRch38":{"90":{"location":"10:25934267-26212527","ensembl_id":"ENSG00000095777"}}},"hgnc_date_symbol_changed":"2000-05-16"},"entity_type":"gene","entity_name":"MYO3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21165622","26754646","23990876","33078831","26841241","29880844"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal recessive 30, MIM# 607101","Deafness, autosomal dominant 90, MIM# 620722"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["MYO5","GS1","MYR12"],"biotype":"protein_coding","hgnc_id":"HGNC:7602","gene_name":"myosin VA","omim_gene":["160777"],"alias_name":["myosin, heavy polypeptide kinase","myosin heavy chain 12","myoxin","myosin V"],"gene_symbol":"MYO5A","hgnc_symbol":"MYO5A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:52599480-52821247","ensembl_id":"ENSG00000197535"}},"GRch38":{"90":{"location":"15:52307283-52529050","ensembl_id":"ENSG00000197535"}}},"hgnc_date_symbol_changed":"1993-09-23"},"entity_type":"gene","entity_name":"MYO5A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32275080","22711375","25283056"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Griscelli syndrome, type 1 MIM#214450"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["KIAA1119"],"biotype":"protein_coding","hgnc_id":"HGNC:7603","gene_name":"myosin VB","omim_gene":["606540"],"alias_name":null,"gene_symbol":"MYO5B","hgnc_symbol":"MYO5B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:47349183-47721463","ensembl_id":"ENSG00000167306"}},"GRch38":{"90":{"location":"18:49822813-50195093","ensembl_id":"ENSG00000167306"}}},"hgnc_date_symbol_changed":"1996-04-04"},"entity_type":"gene","entity_name":"MYO5B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30564347","29266534","28027573","27532546","33525641"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Microvillus inclusion disease, MIM# 251850","Cholestasis, progressive familial intrahepatic, 10, MIM# 619868"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["KIAA0389"],"biotype":"protein_coding","hgnc_id":"HGNC:7605","gene_name":"myosin VI","omim_gene":["600970"],"alias_name":null,"gene_symbol":"MYO6","hgnc_symbol":"MYO6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:76458909-76629254","ensembl_id":"ENSG00000196586"}},"GRch38":{"90":{"location":"6:75749192-75919537","ensembl_id":"ENSG00000196586"}}},"hgnc_date_symbol_changed":"1996-04-04"},"entity_type":"gene","entity_name":"MYO6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24105371","11468689","25999546","25227905","18348273","27171474"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal dominant 22, MIM# 606346","Deafness, autosomal recessive 37, MIM# 607821"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["NSRD2"],"biotype":"protein_coding","hgnc_id":"HGNC:7606","gene_name":"myosin VIIA","omim_gene":["276903"],"alias_name":null,"gene_symbol":"MYO7A","hgnc_symbol":"MYO7A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:76839310-76926284","ensembl_id":"ENSG00000137474"}},"GRch38":{"90":{"location":"11:77128264-77215239","ensembl_id":"ENSG00000137474"}}},"hgnc_date_symbol_changed":"1992-06-08"},"entity_type":"gene","entity_name":"MYO7A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9354784","15300860","15121790","15221449","16449806","21150918","23451214","23383098","28802369","29400105","23559863","18181211","25211151"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal dominant 11, MIM# 601317","Deafness, autosomal recessive 2, 600060","Usher syndrome, type 1B, MIM# 276900"],"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. 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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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["FLJ11061","FLJ13244","MGC71859"],"biotype":"protein_coding","hgnc_id":"HGNC:7608","gene_name":"myosin IXA","omim_gene":["604875"],"alias_name":null,"gene_symbol":"MYO9A","hgnc_symbol":"MYO9A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:72114632-72410918","ensembl_id":"ENSG00000066933"}},"GRch38":{"90":{"location":"15:71822289-72118577","ensembl_id":"ENSG00000066933"}}},"hgnc_date_symbol_changed":"1996-04-04"},"entity_type":"gene","entity_name":"MYO9A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["26752647","27259756"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Congenital myasthenic syndrome 24, presynaptic, MIM# 618198"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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:7609","gene_name":"myosin IXB","omim_gene":["602129"],"alias_name":null,"gene_symbol":"MYO9B","hgnc_symbol":"MYO9B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:17186591-17325346","ensembl_id":"ENSG00000099331"}},"GRch38":{"90":{"location":"19:17075781-17214537","ensembl_id":"ENSG00000099331"}}},"hgnc_date_symbol_changed":"1996-04-04"},"entity_type":"gene","entity_name":"MYO9B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["16720215","16423886","16282976","40382695","36260368"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-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. 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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["TIGR","JOAG1"],"biotype":"protein_coding","hgnc_id":"HGNC:7610","gene_name":"myocilin","omim_gene":["601652"],"alias_name":["trabecular meshwork inducible glucocorticoid response protein","juvenile-onset open-angle glaucoma 1"],"gene_symbol":"MYOC","hgnc_symbol":"MYOC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:171604557-171621823","ensembl_id":"ENSG00000034971"}},"GRch38":{"90":{"location":"1:171635417-171652683","ensembl_id":"ENSG00000034971"}}},"hgnc_date_symbol_changed":"1997-01-10"},"entity_type":"gene","entity_name":"MYOC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9005853","9535666","15108121"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Glaucoma 1A, primary open angle, MIM# 137750"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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:12399","gene_name":"myotilin","omim_gene":["604103"],"alias_name":null,"gene_symbol":"MYOT","hgnc_symbol":"MYOT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:137203480-137223540","ensembl_id":"ENSG00000120729"}},"GRch38":{"90":{"location":"5:137867791-137887851","ensembl_id":"ENSG00000120729"}}},"hgnc_date_symbol_changed":"2005-09-07"},"entity_type":"gene","entity_name":"MYOT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10958653","15111675","16380616","33250842","32509353","29924655"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Myopathy, myofibrillar, 3, MIM# 609200","Myopathy, spheroid body, MIM# 182920"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["MYOP"],"biotype":"protein_coding","hgnc_id":"HGNC:23246","gene_name":"myopalladin","omim_gene":["608517"],"alias_name":["sarcomeric protein myopalladin, 145 kDa"],"gene_symbol":"MYPN","hgnc_symbol":"MYPN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:69865912-69971774","ensembl_id":"ENSG00000138347"}},"GRch38":{"90":{"location":"10:68106117-68212017","ensembl_id":"ENSG00000138347"}}},"hgnc_date_symbol_changed":"2004-02-03"},"entity_type":"gene","entity_name":"MYPN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Nemaline myopathy 11, autosomal recessive MIM#617336 AR","cardiomyopathy MIM#615248 AD"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["MTF1","MYTI","ZC2HC4A","NZF2","ZC2H2C1"],"biotype":"protein_coding","hgnc_id":"HGNC:7622","gene_name":"myelin transcription factor 1","omim_gene":["600379"],"alias_name":["neural zinc finger transcription factor 2"],"gene_symbol":"MYT1","hgnc_symbol":"MYT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:62783144-62873604","ensembl_id":"ENSG00000196132"}},"GRch38":{"90":{"location":"20:64151791-64242253","ensembl_id":"ENSG00000196132"}}},"hgnc_date_symbol_changed":"1991-08-08"},"entity_type":"gene","entity_name":"MYT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28612832","32871052","27358179","33710394"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Craniofacial microsomia","OAV spectrum"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["KIAA1106","NZF1","ZC2HC4B","ZC2H2C2"],"biotype":"protein_coding","hgnc_id":"HGNC:7623","gene_name":"myelin transcription factor 1 like","omim_gene":["613084"],"alias_name":["neural zinc finger transcription factor 1"],"gene_symbol":"MYT1L","hgnc_symbol":"MYT1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:1792885-2335032","ensembl_id":"ENSG00000186487"}},"GRch38":{"90":{"location":"2:1789113-2331260","ensembl_id":"ENSG00000186487"}}},"hgnc_date_symbol_changed":"1996-07-11"},"entity_type":"gene","entity_name":"MYT1L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28859103","32065501"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mental retardation, autosomal dominant 39, MIM# 616521"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["SAS"],"biotype":"protein_coding","hgnc_id":"HGNC:19237","gene_name":"N-acetylneuraminate synthase","omim_gene":["605202"],"alias_name":["sialic acid synthase"],"gene_symbol":"NANS","hgnc_symbol":"NANS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:100819021-100845357","ensembl_id":"ENSG00000095380"}},"GRch38":{"90":{"location":"9:98056739-98083075","ensembl_id":"ENSG00000095380"}}},"hgnc_date_symbol_changed":"2002-12-16"},"entity_type":"gene","entity_name":"NANS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8152878","15726110","8723082","27213289","7551156"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Spondyloepimetaphyseal dysplasia, Camera-Genevieve type - MIM#610442"],"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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