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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:5461","gene_name":"immunoglobulin binding protein 1","omim_gene":["300139"],"alias_name":["alpha 4"],"gene_symbol":"IGBP1","hgnc_symbol":"IGBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:69353299-69386174","ensembl_id":"ENSG00000089289"}},"GRch38":{"90":{"location":"X:70133449-70166324","ensembl_id":"ENSG00000089289"}}},"hgnc_date_symbol_changed":"1997-09-05"},"entity_type":"gene","entity_name":"IGBP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["14556245"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["disputed"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":["IGF1A","IGFI","IGF-I"],"biotype":"protein_coding","hgnc_id":"HGNC:5464","gene_name":"insulin like growth factor 1","omim_gene":["147440"],"alias_name":["somatomedin C"],"gene_symbol":"IGF1","hgnc_symbol":"IGF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:102789645-102874423","ensembl_id":"ENSG00000017427"}},"GRch38":{"90":{"location":"12:102395867-102480645","ensembl_id":"ENSG00000017427"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"IGF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8857020","15769976","14684690","31539878","28768959","34125705","22832530"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM # 608747"],"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":["SYNE-2","DKFZP434H2235","Nesprin-2","NUANCE","NUA","KIAA1011","Nesp2"],"biotype":"protein_coding","hgnc_id":"HGNC:17084","gene_name":"spectrin repeat containing nuclear envelope protein 2","omim_gene":["608442"],"alias_name":["nuclear envelope spectrin repeat-2","nucleus and actin connecting element"],"gene_symbol":"SYNE2","hgnc_symbol":"SYNE2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:64319683-64693165","ensembl_id":"ENSG00000054654"}},"GRch38":{"90":{"location":"14:63852983-64226433","ensembl_id":"ENSG00000054654"}}},"hgnc_date_symbol_changed":"2003-02-19"},"entity_type":"gene","entity_name":"SYNE2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["32184094","17761684","40757551","34573277"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Emery-Dreifuss muscular dystrophy 5, autosomal dominant MIM#612999","Neurodevelopmental disorder, MONDO:0700092, SYNE2 related"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["disputed"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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:11449","gene_name":"succinate-CoA ligase alpha subunit","omim_gene":["611224"],"alias_name":null,"gene_symbol":"SUCLG1","hgnc_symbol":"SUCLG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:84650647-84687169","ensembl_id":"ENSG00000163541"}},"GRch38":{"90":{"location":"2:84423523-84460045","ensembl_id":"ENSG00000163541"}}},"hgnc_date_symbol_changed":"1998-11-11"},"entity_type":"gene","entity_name":"SUCLG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33230783","28358460"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400"],"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:11448","gene_name":"succinate-CoA ligase ADP-forming beta subunit","omim_gene":["603921"],"alias_name":["succinate--CoA ligase (ADP-forming)"],"gene_symbol":"SUCLA2","hgnc_symbol":"SUCLA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:48510622-48612125","ensembl_id":"ENSG00000136143"}},"GRch38":{"90":{"location":"13:47936491-48001354","ensembl_id":"ENSG00000136143"}}},"hgnc_date_symbol_changed":"1998-11-11"},"entity_type":"gene","entity_name":"SUCLA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15877282","17287286","17301081","23759946","33231368","33230181","28243576","27913098","27651038"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791"],"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":["UNC18B","Hunc18b"],"biotype":"protein_coding","hgnc_id":"HGNC:11445","gene_name":"syntaxin binding protein 2","omim_gene":["601717"],"alias_name":null,"gene_symbol":"STXBP2","hgnc_symbol":"STXBP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:7701767-7712759","ensembl_id":"ENSG00000076944"}},"GRch38":{"90":{"location":"19:7636881-7647873","ensembl_id":"ENSG00000076944"}}},"hgnc_date_symbol_changed":"1996-12-27"},"entity_type":"gene","entity_name":"STXBP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19804848"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease 613101"],"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. 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