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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":["MANA-ER","MRT15","ERManI"],"biotype":"protein_coding","hgnc_id":"HGNC:6823","gene_name":"mannosidase alpha class 1B member 1","omim_gene":["604346"],"alias_name":["endoplasmic reticulum alpha-mannosidase 1","alpha 1,2-mannosidase","endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1","ER alpha 1,2-mannosidase","Man9GlcNAc2-specific processing alpha-mannosidase","endoplasmic Reticulum Class I alpha-mannosidase"],"gene_symbol":"MAN1B1","hgnc_symbol":"MAN1B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139981379-140003635","ensembl_id":"ENSG00000177239"}},"GRch38":{"90":{"location":"9:137086927-137109187","ensembl_id":"ENSG00000177239"}}},"hgnc_date_symbol_changed":"1999-09-28"},"entity_type":"gene","entity_name":"MAN1B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24348268"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mental retardation, autosomal recessive 15, MIM#614202"],"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":"1.4754","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:6831","gene_name":"mannosidase beta","omim_gene":["609489"],"alias_name":["beta-mannosidase A"],"gene_symbol":"MANBA","hgnc_symbol":"MANBA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:103552660-103682151","ensembl_id":"ENSG00000109323"}},"GRch38":{"90":{"location":"4:102631488-102760994","ensembl_id":"ENSG00000109323"}}},"hgnc_date_symbol_changed":"1990-05-25"},"entity_type":"gene","entity_name":"MANBA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30552791","25741867"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mannosidosis, beta, MIM# 248510","MONDO:0009562","Nystagmus, autosomal dominant"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6833","gene_name":"monoamine oxidase A","omim_gene":["309850"],"alias_name":null,"gene_symbol":"MAOA","hgnc_symbol":"MAOA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:43515467-43606068","ensembl_id":"ENSG00000189221"}},"GRch38":{"90":{"location":"X:43654907-43746824","ensembl_id":"ENSG00000189221"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"MAOA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25807999","24169519"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Brunner syndrome, MIM# 300615"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["MAP5","PPP1R102"],"biotype":"protein_coding","hgnc_id":"HGNC:6836","gene_name":"microtubule associated protein 1B","omim_gene":["157129"],"alias_name":["protein phosphatase 1, regulatory subunit 102"],"gene_symbol":"MAP1B","hgnc_symbol":"MAP1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:71403061-71505395","ensembl_id":"ENSG00000131711"}},"GRch38":{"90":{"location":"5:72107234-72209570","ensembl_id":"ENSG00000131711"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"MAP1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31317654","30150678","30214071"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":["Intellectual disability","seizures","PVNH","dysmorphic features","Periventricular nodular heterotopia 9, MIM# 618918","Deafness, autosomal dominant 83, MIM# 619808"],"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":["TRPML1","ML4","MLIV","MST080","MSTP080","TRPM-L1"],"biotype":"protein_coding","hgnc_id":"HGNC:13356","gene_name":"mucolipin 1","omim_gene":["605248"],"alias_name":null,"gene_symbol":"MCOLN1","hgnc_symbol":"MCOLN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:7587512-7598895","ensembl_id":"ENSG00000090674"}},"GRch38":{"90":{"location":"19:7522626-7534009","ensembl_id":"ENSG00000090674"}}},"hgnc_date_symbol_changed":"2000-09-19"},"entity_type":"gene","entity_name":"MCOLN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17239335","25156245","33965501","35205297","37972748"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mucolipidosis IV, MIM# 252650","MONDO:0009653","Lisch epithelial corneal dystrophy, OMIM# 620763"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["FLJ12847","BRIT1"],"biotype":"protein_coding","hgnc_id":"HGNC:6954","gene_name":"microcephalin 1","omim_gene":["607117"],"alias_name":["BRCT-repeat inhibitor of TERT expression 1"],"gene_symbol":"MCPH1","hgnc_symbol":"MCPH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:6264113-6501144","ensembl_id":"ENSG00000147316"}},"GRch38":{"90":{"location":"8:6406592-6648504","ensembl_id":"ENSG00000147316"}}},"hgnc_date_symbol_changed":"1998-02-11"},"entity_type":"gene","entity_name":"MCPH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12046007","15199523","16311745","20978018","32294449","30351297","29026105"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Microcephaly 1, primary, autosomal recessive, MIM# 251200","MONDO:0009617"],"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:6971","gene_name":"malate dehydrogenase 2","omim_gene":["154100"],"alias_name":null,"gene_symbol":"MDH2","hgnc_symbol":"MDH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:75677369-75696826","ensembl_id":"ENSG00000146701"}},"GRch38":{"90":{"location":"7:76048051-76067508","ensembl_id":"ENSG00000146701"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"MDH2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34766628","27989324"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Developmental and epileptic encephalopathy 51 MIM#617339"],"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":["HDM2","MGC5370"],"biotype":"protein_coding","hgnc_id":"HGNC:6973","gene_name":"MDM2 proto-oncogene","omim_gene":["164785"],"alias_name":null,"gene_symbol":"MDM2","hgnc_symbol":"MDM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:69201956-69239214","ensembl_id":"ENSG00000135679"}},"GRch38":{"90":{"location":"12:68808176-68850686","ensembl_id":"ENSG00000135679"}}},"hgnc_date_symbol_changed":"1993-12-10"},"entity_type":"gene","entity_name":"MDM2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["28846075"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Lessel-Kubisch syndrome, MIM# 618681"],"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":["MDS1-EVI1","PRDM3","KMT8E"],"biotype":"protein_coding","hgnc_id":"HGNC:3498","gene_name":"MDS1 and EVI1 complex locus","omim_gene":["165215"],"alias_name":["PR domain 3"],"gene_symbol":"MECOM","hgnc_symbol":"MECOM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:168801287-169381406","ensembl_id":"ENSG00000085276"}},"GRch38":{"90":{"location":"3:169083499-169663618","ensembl_id":"ENSG00000085276"}}},"hgnc_date_symbol_changed":"2009-08-07"},"entity_type":"gene","entity_name":"MECOM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26581901"],"evidence":["Expert Review Green","Expert Review","Victorian Clinical Genetics Services"],"phenotypes":["Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738"],"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:6990","gene_name":"methyl-CpG binding protein 2","omim_gene":["300005"],"alias_name":null,"gene_symbol":"MECP2","hgnc_symbol":"MECP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153287024-153363212","ensembl_id":"ENSG00000169057"}},"GRch38":{"90":{"location":"X:154021573-154137103","ensembl_id":"ENSG00000169057"}}},"hgnc_date_symbol_changed":"1996-09-03"},"entity_type":"gene","entity_name":"MECP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32469049"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Rett syndrome, MIM# 312750","Intellectual developmental disorder, X-linked, syndromic 13, MIM# 300055","Encephalopathy, neonatal severe, MIM# 300673"],"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. 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":["CGI-63","NRBF1","FASN2B","ETR1"],"biotype":"protein_coding","hgnc_id":"HGNC:19691","gene_name":"mitochondrial trans-2-enoyl-CoA reductase","omim_gene":["608205"],"alias_name":["nuclear receptor binding factor 1","mitochondrial 2-enoyl thioester reductase"],"gene_symbol":"MECR","hgnc_symbol":"MECR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:29519385-29557454","ensembl_id":"ENSG00000116353"}},"GRch38":{"90":{"location":"1:29192873-29230942","ensembl_id":"ENSG00000116353"}}},"hgnc_date_symbol_changed":"2005-05-24"},"entity_type":"gene","entity_name":"MECR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27817865","33401012","31137067","31070877"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282","MONDO:0015003","Optic atrophy 16, MIM# 620629"],"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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