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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":"1.4751","version_created":"2026-04-18T18:50:13.994736+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":["PIG2","TP53I2"],"biotype":"protein_coding","hgnc_id":"HGNC:4136","gene_name":"guanidinoacetate N-methyltransferase","omim_gene":["601240"],"alias_name":null,"gene_symbol":"GAMT","hgnc_symbol":"GAMT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:1397091-1401569","ensembl_id":"ENSG00000130005"}},"GRch38":{"90":{"location":"19:1397026-1401570","ensembl_id":"ENSG00000130005"}}},"hgnc_date_symbol_changed":"1996-07-19"},"entity_type":"gene","entity_name":"GAMT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308","8651275"],"evidence":["Expert Review Green","NHS GMS","Victorian Clinical Genetics Services"],"phenotypes":["Cerebral creatine deficiency syndrome 2 MIM#612736","Disorders of creatinine metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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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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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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":"1.4751","version_created":"2026-04-18T18:50:13.994736+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:4180","gene_name":"1,4-alpha-glucan branching enzyme 1","omim_gene":["607839"],"alias_name":["glycogen branching enzyme","Andersen disease","glycogen storage disease type IV"],"gene_symbol":"GBE1","hgnc_symbol":"GBE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:81538850-81811312","ensembl_id":"ENSG00000114480"}},"GRch38":{"90":{"location":"3:81489699-81762161","ensembl_id":"ENSG00000114480"}}},"hgnc_date_symbol_changed":"1993-06-21"},"entity_type":"gene","entity_name":"GBE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8613547"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292"],"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":"1.4751","version_created":"2026-04-18T18:50:13.994736+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":["DBP","VDBP","hDBP"],"biotype":"protein_coding","hgnc_id":"HGNC:4187","gene_name":"GC, vitamin D binding protein","omim_gene":["139200"],"alias_name":null,"gene_symbol":"GC","hgnc_symbol":"GC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:72607410-72669758","ensembl_id":"ENSG00000145321"}},"GRch38":{"90":{"location":"4:71741693-71804041","ensembl_id":"ENSG00000145321"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GC","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4751","version_created":"2026-04-18T18:50:13.994736+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":["GTPCH1","DYT5a"],"biotype":"protein_coding","hgnc_id":"HGNC:4193","gene_name":"GTP cyclohydrolase 1","omim_gene":["600225"],"alias_name":["dopa-responsive dystonia"],"gene_symbol":"GCH1","hgnc_symbol":"GCH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:55308726-55369570","ensembl_id":"ENSG00000131979"}},"GRch38":{"90":{"location":"14:54842008-54902852","ensembl_id":"ENSG00000131979"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"GCH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21935284","24509643","33713342","7874165","11113234","15753436","9667588","10987649","32170445","32278297","32746945","30314816"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["GTP cyclohydrolase I deficiency MONDO:0100184"],"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":"1.4751","version_created":"2026-04-18T18:50:13.994736+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":["HK4"],"biotype":"protein_coding","hgnc_id":"HGNC:4195","gene_name":"glucokinase","omim_gene":["138079"],"alias_name":["hexokinase 4"],"gene_symbol":"GCK","hgnc_symbol":"GCK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:44183872-44237769","ensembl_id":"ENSG00000106633"}},"GRch38":{"90":{"location":"7:44144271-44198170","ensembl_id":"ENSG00000106633"}}},"hgnc_date_symbol_changed":"1991-06-05"},"entity_type":"gene","entity_name":"GCK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19790256"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853)","Diabetes mellitus, permanent neonatal 1, AR (MIM#606176)","Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485)","MODY, type II, AD (MIM#125851)"],"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":"1.4751","version_created":"2026-04-18T18:50:13.994736+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":["CMT4","CMT2K"],"biotype":"protein_coding","hgnc_id":"HGNC:15968","gene_name":"ganglioside induced differentiation associated protein 1","omim_gene":["606598"],"alias_name":null,"gene_symbol":"GDAP1","hgnc_symbol":"GDAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:75233365-75401107","ensembl_id":"ENSG00000104381"}},"GRch38":{"90":{"location":"8:74321130-74488872","ensembl_id":"ENSG00000104381"}}},"hgnc_date_symbol_changed":"2001-06-25"},"entity_type":"gene","entity_name":"GDAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16172208","21753178","21365284","20232219","11743580"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706","Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340","Charcot-Marie-Tooth disease, type 4A, MIM# 214400"],"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":"1.4751","version_created":"2026-04-18T18:50:13.994736+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:4214","gene_name":"growth differentiation factor 1","omim_gene":["602880"],"alias_name":null,"gene_symbol":"GDF1","hgnc_symbol":"GDF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:18979361-19006905","ensembl_id":"ENSG00000130283"}},"GRch38":{"90":{"location":"19:18868545-18896096","ensembl_id":"ENSG00000130283"}}},"hgnc_date_symbol_changed":"1997-09-12"},"entity_type":"gene","entity_name":"GDF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32144877"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Congenital heart defects, multiple types, 6 613854","Right atrial isomerism (Ivemark) 208530"],"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":"1.4751","version_created":"2026-04-18T18:50:13.994736+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":["BMP-9","BMP9"],"biotype":"protein_coding","hgnc_id":"HGNC:4217","gene_name":"growth differentiation factor 2","omim_gene":["605120"],"alias_name":["''"],"gene_symbol":"GDF2","hgnc_symbol":"GDF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:48413092-48416853","ensembl_id":"ENSG00000128802"}},"GRch38":{"90":{"location":"10:47322490-47326270","ensembl_id":"ENSG00000263761"}}},"hgnc_date_symbol_changed":"1997-09-12"},"entity_type":"gene","entity_name":"GDF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23972370","27081547","32573726","32992168","34611981","33834622","32669404","26056270","23972370"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Telangiectasia, hereditary hemorrhagic, type 5 OMIM # 615506","pulmonary arteriovenous malformations"],"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":"1.4751","version_created":"2026-04-18T18:50:13.994736+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:4218","gene_name":"growth differentiation factor 3","omim_gene":["606522"],"alias_name":null,"gene_symbol":"GDF3","hgnc_symbol":"GDF3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:7842378-7848372","ensembl_id":"ENSG00000184344"}},"GRch38":{"90":{"location":"12:7689782-7695776","ensembl_id":"ENSG00000184344"}}},"hgnc_date_symbol_changed":"1999-04-23"},"entity_type":"gene","entity_name":"GDF3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["19864492"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Microphthalmia with coloboma 6, MIM# 613703","Microphthalmia, isolated 7, MIM# 613704","Klippel-Feil anomaly with laryngeal malformation - 613702"],"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":"1.4751","version_created":"2026-04-18T18:50:13.994736+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:4224","gene_name":"growth differentiation factor 9","omim_gene":["601918"],"alias_name":null,"gene_symbol":"GDF9","hgnc_symbol":"GDF9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:132196873-132202576","ensembl_id":"ENSG00000164404"}},"GRch38":{"90":{"location":"5:132861181-132866884","ensembl_id":"ENSG00000164404"}}},"hgnc_date_symbol_changed":"1997-09-12"},"entity_type":"gene","entity_name":"GDF9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["41783724","38942181","38672141","38649916","38643161","35013061","34095689","33797006","33538981","33095795","29044499","27603904"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Premature ovarian failure 14, OMIM# 618014"],"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":"1.4751","version_created":"2026-04-18T18:50:13.994736+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":["RABGDIA","XAP-4","OPHN2","FLJ41411"],"biotype":"protein_coding","hgnc_id":"HGNC:4226","gene_name":"GDP dissociation inhibitor 1","omim_gene":["300104"],"alias_name":["mental retardation, X-linked 41","mental retardation, X-linked 48","rab GDP-dissociation inhibitor, alpha"],"gene_symbol":"GDI1","hgnc_symbol":"GDI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153665266-153671814","ensembl_id":"ENSG00000203879"}},"GRch38":{"90":{"location":"X:154436913-154443467","ensembl_id":"ENSG00000203879"}}},"hgnc_date_symbol_changed":"1997-11-11"},"entity_type":"gene","entity_name":"GDI1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28863211","22002931","9620768","9668174"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Intellectual developmental disorder, X-linked 41 MIM#300849"],"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":"1.4751","version_created":"2026-04-18T18:50:13.994736+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":["ATF1","ATF2","HFB1-GDNF"],"biotype":"protein_coding","hgnc_id":"HGNC:4232","gene_name":"glial cell derived neurotrophic factor","omim_gene":["600837"],"alias_name":["astrocyte-derived trophic factor","glial cell line derived neurotrophic factor","glial derived neurotrophic factor"],"gene_symbol":"GDNF","hgnc_symbol":"GDNF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:37812779-37839788","ensembl_id":"ENSG00000168621"}},"GRch38":{"90":{"location":"5:37812677-37839686","ensembl_id":"ENSG00000168621"}}},"hgnc_date_symbol_changed":"1995-05-04"},"entity_type":"gene","entity_name":"GDNF","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["8896568, 8968758"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{Hirschsprung disease, susceptibility to, 3} MIM#613711"],"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":"1.4751","version_created":"2026-04-18T18:50:13.994736+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":["HHRF-1","DKFZP434B131","p97","DKFZP434D174","HC56","HCAP1"],"biotype":"protein_coding","hgnc_id":"HGNC:15717","gene_name":"gem nuclear organelle associated protein 4","omim_gene":["606969"],"alias_name":["HCC-associated protein 1","component of gems 4"],"gene_symbol":"GEMIN4","hgnc_symbol":"GEMIN4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:647654-657239","ensembl_id":"ENSG00000179409"}},"GRch38":{"90":{"location":"17:744414-753999","ensembl_id":"ENSG00000179409"}}},"hgnc_date_symbol_changed":"2001-08-07"},"entity_type":"gene","entity_name":"GEMIN4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25558065","30237576","27878435"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913"],"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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