{"count":35530,"next":"https://panelapp-aus.org/api/v1/genes/?format=json&page=81","previous":"https://panelapp-aus.org/api/v1/genes/?format=json&page=79","results":[{"gene_data":{"alias":["KIAA0601","BHC110","LSD1"],"biotype":"protein_coding","hgnc_id":"HGNC:29079","gene_name":"lysine demethylase 1A","omim_gene":["609132"],"alias_name":null,"gene_symbol":"KDM1A","hgnc_symbol":"KDM1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:23345941-23410182","ensembl_id":"ENSG00000004487"}},"GRch38":{"90":{"location":"1:23019448-23083689","ensembl_id":"ENSG00000004487"}}},"hgnc_date_symbol_changed":"2009-09-29"},"entity_type":"gene","entity_name":"KDM1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29559475","27094131"],"evidence":["Expert Review Green","Literature","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cleft palate, psychomotor retardation, and distinctive facial features 616728","Multiple myeloma"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["RBBP2H1A","PLU-1","CT31","PPP1R98"],"biotype":"protein_coding","hgnc_id":"HGNC:18039","gene_name":"lysine demethylase 5B","omim_gene":["605393"],"alias_name":["cancer/testis antigen 31","protein phosphatase 1, regulatory subunit 98"],"gene_symbol":"KDM5B","hgnc_symbol":"KDM5B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:202696526-202778598","ensembl_id":"ENSG00000117139"}},"GRch38":{"90":{"location":"1:202724491-202809470","ensembl_id":"ENSG00000117139"}}},"hgnc_date_symbol_changed":"2009-04-06"},"entity_type":"gene","entity_name":"KDM5B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29276005","30217758","30409806"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mental retardation, autosomal recessive 65 MIM#618109","Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, autosomal dominant"],"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":["DXS1272E","XE169"],"biotype":"protein_coding","hgnc_id":"HGNC:11114","gene_name":"lysine demethylase 5C","omim_gene":["314690"],"alias_name":null,"gene_symbol":"KDM5C","hgnc_symbol":"KDM5C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:53220503-53254604","ensembl_id":"ENSG00000126012"}},"GRch38":{"90":{"location":"X:53191321-53225422","ensembl_id":"ENSG00000126012"}}},"hgnc_date_symbol_changed":"2009-04-06"},"entity_type":"gene","entity_name":"KDM5C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15586325","32279304"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534","MONDO:0010355"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:12637","gene_name":"lysine demethylase 6A","omim_gene":["300128"],"alias_name":null,"gene_symbol":"KDM6A","hgnc_symbol":"KDM6A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:44732757-44971847","ensembl_id":"ENSG00000147050"}},"GRch38":{"90":{"location":"X:44873177-45112602","ensembl_id":"ENSG00000147050"}}},"hgnc_date_symbol_changed":"2009-04-17"},"entity_type":"gene","entity_name":"KDM6A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27302555","24664873"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Kabuki syndrome 2, 300867"],"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":["FLK1","VEGFR","VEGFR2","CD309"],"biotype":"protein_coding","hgnc_id":"HGNC:6307","gene_name":"kinase insert domain receptor","omim_gene":["191306"],"alias_name":["vascular endothelial growth factor receptor 2","fetal liver kinase 1"],"gene_symbol":"KDR","hgnc_symbol":"KDR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:55944644-55991756","ensembl_id":"ENSG00000128052"}},"GRch38":{"90":{"location":"4:55078477-55125589","ensembl_id":"ENSG00000128052"}}},"hgnc_date_symbol_changed":"1991-07-10"},"entity_type":"gene","entity_name":"KDR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31980491","29650961","18931684"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Pulmonary hypertension","Haemangioma, capillary infantile, somatic 602089","Tetralogy of Fallot, MONDO:0008542"],"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":["DHSR","SDR35C1"],"biotype":"protein_coding","hgnc_id":"HGNC:4021","gene_name":"3-ketodihydrosphingosine reductase","omim_gene":["136440"],"alias_name":["3-dehydrosphinganine reductase","short chain dehydrogenase/reductase family 35C, member 1"],"gene_symbol":"KDSR","hgnc_symbol":"KDSR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:60994959-61034743","ensembl_id":"ENSG00000119537"}},"GRch38":{"90":{"location":"18:63327726-63367510","ensembl_id":"ENSG00000119537"}}},"hgnc_date_symbol_changed":"2008-02-20"},"entity_type":"gene","entity_name":"KDSR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28774589","30467204","28575652"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Erythrokeratodermia variabilis et progressiva 4, MIM# 617526","severe thrombocytopaenia"],"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":["ECE3","CD238"],"biotype":"protein_coding","hgnc_id":"HGNC:6308","gene_name":"Kell blood group, metallo-endopeptidase","omim_gene":["613883"],"alias_name":null,"gene_symbol":"KEL","hgnc_symbol":"KEL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:142638201-142659768","ensembl_id":"ENSG00000197993"}},"GRch38":{"90":{"location":"7:142941114-142962681","ensembl_id":"ENSG00000197993"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"KEL","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["30578106","37978175"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["vein of Galen aneurysm, MONDO:0015196"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["SLRR2B"],"biotype":"protein_coding","hgnc_id":"HGNC:6309","gene_name":"keratocan","omim_gene":["603288"],"alias_name":["keratocan proteoglycan"],"gene_symbol":"KERA","hgnc_symbol":"KERA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:91444268-91451760","ensembl_id":"ENSG00000139330"}},"GRch38":{"90":{"location":"12:91050491-91057983","ensembl_id":"ENSG00000139330"}}},"hgnc_date_symbol_changed":"1999-08-26"},"entity_type":"gene","entity_name":"KERA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23834557","11726611","10802664"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cornea plana 2, autosomal recessive, MIM# 217300"],"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":["ECAT1"],"biotype":"protein_coding","hgnc_id":"HGNC:33699","gene_name":"KH domain containing 3 like, subcortical maternal complex member","omim_gene":["611687"],"alias_name":["ES cell associated transcript 1"],"gene_symbol":"KHDC3L","hgnc_symbol":"KHDC3L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:74072400-74073894","ensembl_id":"ENSG00000203908"}},"GRch38":{"90":{"location":"6:73362677-73364171","ensembl_id":"ENSG00000203908"}}},"hgnc_date_symbol_changed":"2012-06-25"},"entity_type":"gene","entity_name":"KHDC3L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23232697","31847873","23125094","21885028"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hydatiform mold recurrent 2, MIM#614293"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6315","gene_name":"ketohexokinase","omim_gene":["614058"],"alias_name":["fructokinase"],"gene_symbol":"KHK","hgnc_symbol":"KHK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:27309615-27323640","ensembl_id":"ENSG00000138030"}},"GRch38":{"90":{"location":"2:27086747-27100772","ensembl_id":"ENSG00000138030"}}},"hgnc_date_symbol_changed":"1994-12-19"},"entity_type":"gene","entity_name":"KHK","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["7833921","27604308","29870677"],"evidence":["Expert Review Amber","Expert Review Amber","Literature","Victorian Clinical Genetics Services"],"phenotypes":["Fructosuria MIM#229800","Disorders of fructose metabolism"],"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":["NMIG"],"biotype":"protein_coding","hgnc_id":"HGNC:21580","gene_name":"KIAA0319","omim_gene":["609269"],"alias_name":["neuronal migration"],"gene_symbol":"KIAA0319","hgnc_symbol":"KIAA0319","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:24544332-24646383","ensembl_id":"ENSG00000137261"}},"GRch38":{"90":{"location":"6:24544104-24646155","ensembl_id":"ENSG00000137261"}}},"hgnc_date_symbol_changed":"2003-11-21"},"entity_type":"gene","entity_name":"KIAA0319","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{Dyslexia, susceptibility to, 2}, MIM#600202"],"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. 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":["JBTS26","KATNIP"],"biotype":"protein_coding","hgnc_id":"HGNC:29068","gene_name":"KIAA0556","omim_gene":["616650"],"alias_name":null,"gene_symbol":"KIAA0556","hgnc_symbol":"KIAA0556","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:27561454-27791690","ensembl_id":"ENSG00000047578"}},"GRch38":{"90":{"location":"16:27550133-27780369","ensembl_id":"ENSG00000047578"}}},"hgnc_date_symbol_changed":"2006-08-25"},"entity_type":"gene","entity_name":"KIAA0556","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26714646","27245168"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 26, MIM# 616784"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"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":["Talpid3","JBTS23"],"biotype":"protein_coding","hgnc_id":"HGNC:19960","gene_name":"KIAA0586","omim_gene":["610178"],"alias_name":null,"gene_symbol":"KIAA0586","hgnc_symbol":"KIAA0586","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:58894103-59015216","ensembl_id":"ENSG00000100578"}},"GRch38":{"90":{"location":"14:58427385-58551289","ensembl_id":"ENSG00000100578"}}},"hgnc_date_symbol_changed":"2003-11-21"},"entity_type":"gene","entity_name":"KIAA0586","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26096313","26166481"],"evidence":["Expert Review Green","Literature","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 23, MIM# 616490","Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546"],"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":["OFIP","MNR"],"biotype":"protein_coding","hgnc_id":"HGNC:29110","gene_name":"KIAA0753","omim_gene":["617112"],"alias_name":["moonraker","OFD1 and FOPNL interacting protein"],"gene_symbol":"KIAA0753","hgnc_symbol":"KIAA0753","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:6481468-6544247","ensembl_id":"ENSG00000198920"}},"GRch38":{"90":{"location":"17:6578148-6640927","ensembl_id":"ENSG00000198920"}}},"hgnc_date_symbol_changed":"2005-12-13"},"entity_type":"gene","entity_name":"KIAA0753","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31816441","28220259","29138412","26643951","31816441","33875766","34016807"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Orofaciodigital syndrome XV, MIM# 617127","Joubert syndrome 38, MIM# 619476","Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479"],"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":["FLJ21404","FSA","KIAA1371","Tweek"],"biotype":"protein_coding","hgnc_id":"HGNC:26953","gene_name":"KIAA1109","omim_gene":["611565"],"alias_name":["fragile site-associated"],"gene_symbol":"KIAA1109","hgnc_symbol":"KIAA1109","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:123073488-123283913","ensembl_id":"ENSG00000138688"}},"GRch38":{"90":{"location":"4:122152333-122362758","ensembl_id":"ENSG00000138688"}}},"hgnc_date_symbol_changed":"2004-07-29"},"entity_type":"gene","entity_name":"KIAA1109","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29290337","30906834"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Alkuraya-Kucinskas syndrome, MIM# 617822"],"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":["ARMS"],"biotype":"protein_coding","hgnc_id":"HGNC:29508","gene_name":"kinase D interacting substrate 220","omim_gene":["615759"],"alias_name":["ankyrin repeat-rich membrane-spanning protein"],"gene_symbol":"KIDINS220","hgnc_symbol":"KIDINS220","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:8865408-8977760","ensembl_id":"ENSG00000134313"}},"GRch38":{"90":{"location":"2:8721081-8837630","ensembl_id":"ENSG00000134313"}}},"hgnc_date_symbol_changed":"2008-11-25"},"entity_type":"gene","entity_name":"KIDINS220","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33205811","28934391","22048169","27005418","32909676"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296","Ventriculomegaly and arthrogryposis, MIM# 619501"],"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":["Eg5","HKSP","TRIP5"],"biotype":"protein_coding","hgnc_id":"HGNC:6388","gene_name":"kinesin family member 11","omim_gene":["148760"],"alias_name":null,"gene_symbol":"KIF11","hgnc_symbol":"KIF11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:94353043-94415150","ensembl_id":"ENSG00000138160"}},"GRch38":{"90":{"location":"10:92593286-92655395","ensembl_id":"ENSG00000138160"}}},"hgnc_date_symbol_changed":"2003-01-10"},"entity_type":"gene","entity_name":"KIF11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22284827","25115524","25124931","27212378","32730767","31993640","25996076"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950","MONDO:0007918"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["KIAA0042"],"biotype":"protein_coding","hgnc_id":"HGNC:19181","gene_name":"kinesin family member 14","omim_gene":["611279"],"alias_name":null,"gene_symbol":"KIF14","hgnc_symbol":"KIF14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:200520628-200589862","ensembl_id":"ENSG00000118193"}},"GRch38":{"90":{"location":"1:200551497-200620734","ensembl_id":"ENSG00000118193"}}},"hgnc_date_symbol_changed":"2002-09-12"},"entity_type":"gene","entity_name":"KIF14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28892560","29343805","24128419"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Microcephaly 20, primary, autosomal recessive, MIM# 617914","Meckel syndrome 12, MIM# 616258"],"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":["UNC104"],"biotype":"protein_coding","hgnc_id":"HGNC:888","gene_name":"kinesin family member 1A","omim_gene":["601255"],"alias_name":null,"gene_symbol":"KIF1A","hgnc_symbol":"KIF1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:241653181-241759725","ensembl_id":"ENSG00000130294"}},"GRch38":{"90":{"location":"2:240713764-240820308","ensembl_id":"ENSG00000130294"}}},"hgnc_date_symbol_changed":"2004-01-14"},"entity_type":"gene","entity_name":"KIF1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21820098","28708278"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neuropathy, hereditary sensory, type IIC, MIM# 614213","NESCAV syndrome, MIM# 614255","Spastic paraplegia 30, autosomal dominant MIM# 610357","Spastic paraplegia 30, autosomal recessive 620607"],"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":["KIAA0591","KLP","HMSNII"],"biotype":"protein_coding","hgnc_id":"HGNC:16636","gene_name":"kinesin family member 1B","omim_gene":["605995"],"alias_name":null,"gene_symbol":"KIF1B","hgnc_symbol":"KIF1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:10270863-10441661","ensembl_id":"ENSG00000054523"}},"GRch38":{"90":{"location":"1:10210805-10381603","ensembl_id":"ENSG00000054523"}}},"hgnc_date_symbol_changed":"2001-11-14"},"entity_type":"gene","entity_name":"KIF1B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["33710394","11389829","30126838","25802885"],"evidence":["Expert Review Red","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["Charcot-Marie-Tooth disease, type 2A1 MIM#118210","Hypotonia, coloboma, hypoplasia of the corpus callosum, severe neurodevelopmental delay"],"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":["DKFZP586B0923","TTC20","KBP"],"biotype":"protein_coding","hgnc_id":"HGNC:23419","gene_name":"KIF1 binding protein","omim_gene":["609367"],"alias_name":["kinesin binding protein"],"gene_symbol":"KIF1BP","hgnc_symbol":"KIF1BP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:70748487-70776738","ensembl_id":"ENSG00000198954"}},"GRch38":{"90":{"location":"10:68988721-69043544","ensembl_id":"ENSG00000198954"}}},"hgnc_date_symbol_changed":"2015-03-27"},"entity_type":"gene","entity_name":"KIF1BP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23427148"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Goldberg-Shprintzen megacolon syndrome, MIM# 609460"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"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":["SPAX2","SPG58"],"biotype":"protein_coding","hgnc_id":"HGNC:6317","gene_name":"kinesin family member 1C","omim_gene":["603060"],"alias_name":null,"gene_symbol":"KIF1C","hgnc_symbol":"KIF1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:4901243-4931696","ensembl_id":"ENSG00000129250"}},"GRch38":{"90":{"location":"17:4997948-5028401","ensembl_id":"ENSG00000129250"}}},"hgnc_date_symbol_changed":"1998-09-25"},"entity_type":"gene","entity_name":"KIF1C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24482476","24319291","31413903","29544888"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Spastic ataxia 2, autosomal recessive, MIM# 611302"],"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":["FLJ20052"],"biotype":"protein_coding","hgnc_id":"HGNC:19349","gene_name":"kinesin family member 21A","omim_gene":["608283"],"alias_name":null,"gene_symbol":"KIF21A","hgnc_symbol":"KIF21A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:39687030-39837192","ensembl_id":"ENSG00000139116"}},"GRch38":{"90":{"location":"12:39293228-39443390","ensembl_id":"ENSG00000139116"}}},"hgnc_date_symbol_changed":"2002-10-08"},"entity_type":"gene","entity_name":"KIF21A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15621876","15223798","15621877","18332320","28930843","27513105","26190014","24656932","37921537","39643435","41282472","32141982","24715754","36494820","22699964","34740919","32686171"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700","Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:32434","gene_name":"solute carrier family 38 member 8","omim_gene":["615585"],"alias_name":null,"gene_symbol":"SLC38A8","hgnc_symbol":"SLC38A8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:84043272-84076241","ensembl_id":"ENSG00000166558"}},"GRch38":{"90":{"location":"16:84009667-84042636","ensembl_id":"ENSG00000166558"}}},"hgnc_date_symbol_changed":"2008-02-18"},"entity_type":"gene","entity_name":"SLC38A8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32744312"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218","foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216"],"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":["GSD1b","GSD1c","GSD1d"],"biotype":"protein_coding","hgnc_id":"HGNC:4061","gene_name":"solute carrier family 37 member 4","omim_gene":["602671"],"alias_name":null,"gene_symbol":"SLC37A4","hgnc_symbol":"SLC37A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118894824-118901616","ensembl_id":"ENSG00000137700"}},"GRch38":{"90":{"location":"11:119024114-119030906","ensembl_id":"ENSG00000137700"}}},"hgnc_date_symbol_changed":"2003-09-10"},"entity_type":"gene","entity_name":"SLC37A4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33964207","9675154","9758626"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Glycogen storage disease Ib 232220","Glycogen storage disease Ic 232240","Congenital disorder of glycosylation"],"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":["PAT2","tramdorin","TRAMD1"],"biotype":"protein_coding","hgnc_id":"HGNC:18762","gene_name":"solute carrier family 36 member 2","omim_gene":["608331"],"alias_name":null,"gene_symbol":"SLC36A2","hgnc_symbol":"SLC36A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:150694539-150727151","ensembl_id":"ENSG00000186335"}},"GRch38":{"90":{"location":"5:151314978-151347590","ensembl_id":"ENSG00000186335"}}},"hgnc_date_symbol_changed":"2003-01-13"},"entity_type":"gene","entity_name":"SLC36A2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["19033659","26141664","27604308"],"evidence":["Expert Review Amber","Expert Review Amber","Literature","Victorian Clinical Genetics Services"],"phenotypes":["Hyperglycinuria MIM#138500","Iminoglycinuria, digenic MIM#242600","Disorders of amino acid transport"],"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":["Kid","OBP-1","OBP-2"],"biotype":"protein_coding","hgnc_id":"HGNC:6391","gene_name":"kinesin family member 22","omim_gene":["603213"],"alias_name":null,"gene_symbol":"KIF22","hgnc_symbol":"KIF22","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:29802040-29816706","ensembl_id":"ENSG00000079616"}},"GRch38":{"90":{"location":"16:29790719-29805385","ensembl_id":"ENSG00000079616"}}},"hgnc_date_symbol_changed":"2003-01-10"},"entity_type":"gene","entity_name":"KIF22","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22152677","22152678","25256152","38477767"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Spondyloepimetaphyseal dysplasia with joint laxity, type 2 MIM#603546"],"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":["UGTREL7","KIAA0260"],"biotype":"protein_coding","hgnc_id":"HGNC:20800","gene_name":"solute carrier family 35 member D1","omim_gene":["610804"],"alias_name":null,"gene_symbol":"SLC35D1","hgnc_symbol":"SLC35D1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:67465015-67519782","ensembl_id":"ENSG00000116704"}},"GRch38":{"90":{"location":"1:66999332-67054099","ensembl_id":"ENSG00000116704"}}},"hgnc_date_symbol_changed":"2003-04-09"},"entity_type":"gene","entity_name":"SLC35D1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31423530","19508970","17952091"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Schneckenbecken dysplasia, MIM 269250, MONDO:0010013","O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)"],"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":["FUCT1","FLJ11320"],"biotype":"protein_coding","hgnc_id":"HGNC:20197","gene_name":"solute carrier family 35 member C1","omim_gene":["605881"],"alias_name":null,"gene_symbol":"SLC35C1","hgnc_symbol":"SLC35C1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:45825623-45834566","ensembl_id":"ENSG00000181830"}},"GRch38":{"90":{"location":"11:45804072-45813015","ensembl_id":"ENSG00000181830"}}},"hgnc_date_symbol_changed":"2003-10-08"},"entity_type":"gene","entity_name":"SLC35C1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11326279","12116250","33098347","32313197","24403049"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:11023","gene_name":"solute carrier family 35 member A3","omim_gene":["605632"],"alias_name":null,"gene_symbol":"SLC35A3","hgnc_symbol":"SLC35A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:100435345-100492535","ensembl_id":"ENSG00000117620"}},"GRch38":{"90":{"location":"1:99969351-100035637","ensembl_id":"ENSG00000117620"}}},"hgnc_date_symbol_changed":"1999-10-05"},"entity_type":"gene","entity_name":"SLC35A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28777481","28328131","24031089"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Arthrogryposis, mental retardation, and seizures OMIM #615553","Skeletal dysplasia","Congenital disorder of glycosylation"],"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":["UGAT","UGT","UGT1","UGT2","UGTL"],"biotype":"protein_coding","hgnc_id":"HGNC:11022","gene_name":"solute carrier family 35 member A2","omim_gene":["314375"],"alias_name":null,"gene_symbol":"SLC35A2","hgnc_symbol":"SLC35A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48760459-48769235","ensembl_id":"ENSG00000102100"}},"GRch38":{"90":{"location":"X:48903180-48911958","ensembl_id":"ENSG00000102100"}}},"hgnc_date_symbol_changed":"1995-02-24"},"entity_type":"gene","entity_name":"SLC35A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23561849","24115232","27743886","25778940","33407896"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854","Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)"],"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":["somatic"],"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":["CMPST","hCST"],"biotype":"protein_coding","hgnc_id":"HGNC:11021","gene_name":"solute carrier family 35 member A1","omim_gene":["605634"],"alias_name":null,"gene_symbol":"SLC35A1","hgnc_symbol":"SLC35A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:88180341-88222054","ensembl_id":"ENSG00000164414"}},"GRch38":{"90":{"location":"6:87470623-87512336","ensembl_id":"ENSG00000164414"}}},"hgnc_date_symbol_changed":"1999-10-05"},"entity_type":"gene","entity_name":"SLC35A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28856833","23873973","11157507"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type IIf, MIM# 603585"],"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":["NPTIIc","FLJ38680"],"biotype":"protein_coding","hgnc_id":"HGNC:20305","gene_name":"solute carrier family 34 member 3","omim_gene":["609826"],"alias_name":null,"gene_symbol":"SLC34A3","hgnc_symbol":"SLC34A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:140125209-140131006","ensembl_id":"ENSG00000198569"}},"GRch38":{"90":{"location":"9:137230757-137236554","ensembl_id":"ENSG00000198569"}}},"hgnc_date_symbol_changed":"2003-08-08"},"entity_type":"gene","entity_name":"SLC34A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32524022"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hypophosphatemic rickets with hypercalciuria, (MIM#241530)"],"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":["NAPI-3B"],"biotype":"protein_coding","hgnc_id":"HGNC:11020","gene_name":"solute carrier family 34 member 2","omim_gene":["604217"],"alias_name":null,"gene_symbol":"SLC34A2","hgnc_symbol":"SLC34A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:25656923-25680370","ensembl_id":"ENSG00000157765"}},"GRch38":{"90":{"location":"4:25655301-25678748","ensembl_id":"ENSG00000157765"}}},"hgnc_date_symbol_changed":"1999-07-19"},"entity_type":"gene","entity_name":"SLC34A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16960801","34581165","33884208","32328294","31941744"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Pulmonary alveolar microlithiasis, MIM# 265100"],"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":["NAPI-3","NPTIIa","SLC11"],"biotype":"protein_coding","hgnc_id":"HGNC:11019","gene_name":"solute carrier family 34 member 1","omim_gene":["182309"],"alias_name":["sodium/phosphate co-transporter","solute carrier family 17 (sodium phosphate), member 2","Na+-phosphate cotransporter type II"],"gene_symbol":"SLC34A1","hgnc_symbol":"SLC34A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:176806236-176825849","ensembl_id":"ENSG00000131183"}},"GRch38":{"90":{"location":"5:177379235-177398848","ensembl_id":"ENSG00000131183"}}},"hgnc_date_symbol_changed":"1994-05-25"},"entity_type":"gene","entity_name":"SLC34A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26047794","33516786","33099630","32866123","31188746","30943683","12324554","32216560","30778725"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hypercalcaemia, infantile, 2 MIM#616963","Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286"],"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":["MKLP1","MKLP-1"],"biotype":"protein_coding","hgnc_id":"HGNC:6392","gene_name":"kinesin family member 23","omim_gene":["605064"],"alias_name":null,"gene_symbol":"KIF23","hgnc_symbol":"KIF23","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:69706585-69740764","ensembl_id":"ENSG00000137807"}},"GRch38":{"90":{"location":"15:69414246-69448427","ensembl_id":"ENSG00000137807"}}},"hgnc_date_symbol_changed":"2003-01-17"},"entity_type":"gene","entity_name":"KIF23","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["23570799","33159567"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Anaemia, congenital dyserythropoietic, type IIIA 105600"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["AT-1","AT1"],"biotype":"protein_coding","hgnc_id":"HGNC:95","gene_name":"solute carrier family 33 member 1","omim_gene":["603690"],"alias_name":null,"gene_symbol":"SLC33A1","hgnc_symbol":"SLC33A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:155538813-155572218","ensembl_id":"ENSG00000169359"}},"GRch38":{"90":{"location":"3:155821024-155854429","ensembl_id":"ENSG00000169359"}}},"hgnc_date_symbol_changed":"2002-12-06"},"entity_type":"gene","entity_name":"SLC33A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31194315","19061983","20461110"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482","Spastic paraplegia 42, autosomal dominant, MIM# 612539"],"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":["ZnT-8","ZNT8"],"biotype":"protein_coding","hgnc_id":"HGNC:20303","gene_name":"solute carrier family 30 member 8","omim_gene":["611145"],"alias_name":["Zinc transporter 8"],"gene_symbol":"SLC30A8","hgnc_symbol":"SLC30A8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:117962512-118188953","ensembl_id":"ENSG00000164756"}},"GRch38":{"90":{"location":"8:116950273-117176714","ensembl_id":"ENSG00000164756"}}},"hgnc_date_symbol_changed":"2003-03-14"},"entity_type":"gene","entity_name":"SLC30A8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["17293876"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{Diabetes mellitus, noninsulin-dependent, susceptibility to}, MIM# 125853"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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:11013","gene_name":"solute carrier family 30 member 2","omim_gene":["609617"],"alias_name":null,"gene_symbol":"SLC30A2","hgnc_symbol":"SLC30A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:26363743-26372624","ensembl_id":"ENSG00000158014"}},"GRch38":{"90":{"location":"1:26037252-26046133","ensembl_id":"ENSG00000158014"}}},"hgnc_date_symbol_changed":"1997-12-12"},"entity_type":"gene","entity_name":"SLC30A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17065149","22733820","32278324","30450693","28665435"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Zinc deficiency, transient neonatal , MIM#608118"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["DKFZp547M236","ZnT-10","ZRC1","ZNT8"],"biotype":"protein_coding","hgnc_id":"HGNC:25355","gene_name":"solute carrier family 30 member 10","omim_gene":["611146"],"alias_name":["zinc transporter 8"],"gene_symbol":"SLC30A10","hgnc_symbol":"SLC30A10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:219858769-220131989","ensembl_id":"ENSG00000196660"}},"GRch38":{"90":{"location":"1:219685427-219958647","ensembl_id":"ENSG00000196660"}}},"hgnc_date_symbol_changed":"2005-09-06"},"entity_type":"gene","entity_name":"SLC30A10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22341972","22341971","29193034"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hypermanganesemia with dystonia 1, MIM# 613280"],"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":["Glut9","GLUTX","URATv1"],"biotype":"protein_coding","hgnc_id":"HGNC:13446","gene_name":"solute carrier family 2 member 9","omim_gene":["606142"],"alias_name":["urate voltage-driven efflux transporter 1"],"gene_symbol":"SLC2A9","hgnc_symbol":"SLC2A9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:9772777-10056560","ensembl_id":"ENSG00000109667"}},"GRch38":{"90":{"location":"4:9771153-10054936","ensembl_id":"ENSG00000109667"}}},"hgnc_date_symbol_changed":"2000-09-28"},"entity_type":"gene","entity_name":"SLC2A9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19026395","19926891","21810765","25966807","21256783"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hypouricaemia, renal, 2, MIM# 612076"],"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":["DKFZp434D0917"],"biotype":"protein_coding","hgnc_id":"HGNC:18632","gene_name":"kinesin family member 27","omim_gene":["611253"],"alias_name":null,"gene_symbol":"KIF27","hgnc_symbol":"KIF27","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:86451613-86536342","ensembl_id":"ENSG00000165115"}},"GRch38":{"90":{"location":"9:83836698-83921465","ensembl_id":"ENSG00000165115"}}},"hgnc_date_symbol_changed":"2003-04-16"},"entity_type":"gene","entity_name":"KIF27","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. 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":["HK2"],"biotype":"protein_coding","hgnc_id":"HGNC:6318","gene_name":"kinesin family member 2A","omim_gene":["602591"],"alias_name":null,"gene_symbol":"KIF2A","hgnc_symbol":"KIF2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:61601989-61833076","ensembl_id":"ENSG00000068796"}},"GRch38":{"90":{"location":"5:62306162-62537249","ensembl_id":"ENSG00000068796"}}},"hgnc_date_symbol_changed":"2006-09-26"},"entity_type":"gene","entity_name":"KIF2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23603762","27896282","27747449","29077851","31919497"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["KIF4-G1","KIF4","HSA271784","FLJ12530","FLJ12655","FLJ14204","FLJ20631","MRX100"],"biotype":"protein_coding","hgnc_id":"HGNC:13339","gene_name":"kinesin family member 4A","omim_gene":["300521"],"alias_name":["chromokinesin"],"gene_symbol":"KIF4A","hgnc_symbol":"KIF4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:69509879-69640682","ensembl_id":"ENSG00000090889"}},"GRch38":{"90":{"location":"X:70290090-70420832","ensembl_id":"ENSG00000090889"}}},"hgnc_date_symbol_changed":"2000-09-19"},"entity_type":"gene","entity_name":"KIF4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24812067","34346154"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Intellectual developmental disorder, X-linked 100 MIM#300923","Taurodontism, microdontia, and dens invaginatus MIM#313490"],"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. 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":["D12S1889","NKHC","MY050"],"biotype":"protein_coding","hgnc_id":"HGNC:6323","gene_name":"kinesin family member 5A","omim_gene":["602821"],"alias_name":null,"gene_symbol":"KIF5A","hgnc_symbol":"KIF5A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:57943781-57980415","ensembl_id":"ENSG00000155980"}},"GRch38":{"90":{"location":"12:57549998-57586632","ensembl_id":"ENSG00000155980"}}},"hgnc_date_symbol_changed":"1998-08-24"},"entity_type":"gene","entity_name":"KIF5A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30057544","29892902","28902413","26403765","25695920","25008398","27463701","27414745"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neuropathy","Spastic paraplegia 10, autosomal dominant, MIM# 604187","Myoclonus, intractable, neonatal, MIM# 617235"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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:6325","gene_name":"kinesin family member 5C","omim_gene":["604593"],"alias_name":null,"gene_symbol":"KIF5C","hgnc_symbol":"KIF5C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:149632819-149883273","ensembl_id":"ENSG00000168280"}},"GRch38":{"90":{"location":"2:148875250-149026759","ensembl_id":"ENSG00000168280"}}},"hgnc_date_symbol_changed":"1998-08-24"},"entity_type":"gene","entity_name":"KIF5C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23603762","23033978","32562872"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["JBTS12"],"biotype":"protein_coding","hgnc_id":"HGNC:30497","gene_name":"kinesin family member 7","omim_gene":["611254"],"alias_name":null,"gene_symbol":"KIF7","hgnc_symbol":"KIF7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:90152020-90198682","ensembl_id":"ENSG00000166813"}},"GRch38":{"90":{"location":"15:89608789-89655451","ensembl_id":"ENSG00000166813"}}},"hgnc_date_symbol_changed":"2005-02-07"},"entity_type":"gene","entity_name":"KIF7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21552264","21633164","19666503","30445565","26648833","26349186","26174511","25714560"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 12, MIM# 200990","Acrocallosal syndrome, MIM# 200990","MONDO:0008708","Hydrolethalus syndrome 2, MIM# 614120"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6341","gene_name":"KiSS-1 metastasis-suppressor","omim_gene":["603286"],"alias_name":["prepro-kisspeptin","kisspeptin"],"gene_symbol":"KISS1","hgnc_symbol":"KISS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:204159469-204165614","ensembl_id":"ENSG00000170498"}},"GRch38":{"90":{"location":"1:204190341-204196486","ensembl_id":"ENSG00000170498"}}},"hgnc_date_symbol_changed":"1998-05-18"},"entity_type":"gene","entity_name":"KISS1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["22335740","25783047","22766261","17563351"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842"],"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":["HOT7T175","AXOR12"],"biotype":"protein_coding","hgnc_id":"HGNC:4510","gene_name":"KISS1 receptor","omim_gene":["604161"],"alias_name":null,"gene_symbol":"KISS1R","hgnc_symbol":"KISS1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:917287-921015","ensembl_id":"ENSG00000116014"}},"GRch38":{"90":{"location":"19:917287-921015","ensembl_id":"ENSG00000116014"}}},"hgnc_date_symbol_changed":"2006-02-15"},"entity_type":"gene","entity_name":"KISS1R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17164310","31073722","14573733"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837)"],"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":["CD117","SCFR","C-Kit"],"biotype":"protein_coding","hgnc_id":"HGNC:6342","gene_name":"KIT proto-oncogene receptor tyrosine kinase","omim_gene":["164920"],"alias_name":null,"gene_symbol":"KIT","hgnc_symbol":"KIT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:55524085-55606881","ensembl_id":"ENSG00000157404"}},"GRch38":{"90":{"location":"4:54657918-54740715","ensembl_id":"ENSG00000157404"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"KIT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Piebaldism, MIM# 172800","Gastrointestinal stromal tumor, familial, MIM# 606764","Mastocytosis, cutaneous, MIM# 154800"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["SCF","SF","Kitl","KL-1","FPH2","SLF","DFNA69"],"biotype":"protein_coding","hgnc_id":"HGNC:6343","gene_name":"KIT ligand","omim_gene":["184745"],"alias_name":["mast cell growth factor","stem cell factor","steel factor","familial progressive hyperpigmentation 2"],"gene_symbol":"KITLG","hgnc_symbol":"KITLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:88886570-88974628","ensembl_id":"ENSG00000049130"}},"GRch38":{"90":{"location":"12:88492793-88580851","ensembl_id":"ENSG00000049130"}}},"hgnc_date_symbol_changed":"1991-06-04"},"entity_type":"gene","entity_name":"KITLG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26522471","35543077","28504826","19375057","21368769"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697","deafness","heterochromia iridis","hypopigmentation of the skin","hyperpigmentation of the skin","Waardenburg syndrome,MONDO:0018094, KITLG-related"],"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":["HT013"],"biotype":"protein_coding","hgnc_id":"HGNC:15865","gene_name":"kizuna centrosomal protein","omim_gene":["615757"],"alias_name":null,"gene_symbol":"KIZ","hgnc_symbol":"KIZ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:21106624-21227260","ensembl_id":"ENSG00000088970"}},"GRch38":{"90":{"location":"20:21125983-21246622","ensembl_id":"ENSG00000088970"}}},"hgnc_date_symbol_changed":"2014-02-17"},"entity_type":"gene","entity_name":"KIZ","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24680887","31556760","29057815"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Retinitis pigmentosa 69, MIM# 615780"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6344","gene_name":"klotho","omim_gene":["604824"],"alias_name":null,"gene_symbol":"KL","hgnc_symbol":"KL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:33590207-33640282","ensembl_id":"ENSG00000133116"}},"GRch38":{"90":{"location":"13:33016433-33066145","ensembl_id":"ENSG00000133116"}}},"hgnc_date_symbol_changed":"1999-03-24"},"entity_type":"gene","entity_name":"KL","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["17710231","31013726","9363890"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994","Hyperphosphatemia"],"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. 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":["EKLF"],"biotype":"protein_coding","hgnc_id":"HGNC:6345","gene_name":"Kruppel like factor 1","omim_gene":["600599"],"alias_name":["erythroid Kruppel-like factor"],"gene_symbol":"KLF1","hgnc_symbol":"KLF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:12995237-12997995","ensembl_id":"ENSG00000105610"}},"GRch38":{"90":{"location":"19:12884423-12887181","ensembl_id":"ENSG00000105610"}}},"hgnc_date_symbol_changed":"1999-12-14"},"entity_type":"gene","entity_name":"KLF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21055716","33339573","32815883","32221653","32032242","31818881","24443441","25724378","28361594","34554218"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Dyserythropoietic anaemia, congenital, type IV, MIM# 613673","MONDO:0013355","Anaemia, congenital dyserythropoietic, type IVb, MIM#620969"],"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":["Tieg3","MODY7"],"biotype":"protein_coding","hgnc_id":"HGNC:11811","gene_name":"Kruppel like factor 11","omim_gene":["603301"],"alias_name":null,"gene_symbol":"KLF11","hgnc_symbol":"KLF11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:10182976-10194963","ensembl_id":"ENSG00000172059"}},"GRch38":{"90":{"location":"2:10042849-10054836","ensembl_id":"ENSG00000172059"}}},"hgnc_date_symbol_changed":"2004-12-01"},"entity_type":"gene","entity_name":"KLF11","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["15774581","26248217","23589285","31124255","35108381"],"evidence":["Expert Review Red","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["Maturity-onset diabetes of the young, type VII MIM#610508"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["refuted"],"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":["CPBP","GBF","Zf9","PAC1"],"biotype":"protein_coding","hgnc_id":"HGNC:2235","gene_name":"Kruppel like factor 6","omim_gene":["602053"],"alias_name":["GC-rich binding factor"],"gene_symbol":"KLF6","hgnc_symbol":"KLF6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:3818188-3827473","ensembl_id":"ENSG00000067082"}},"GRch38":{"90":{"location":"10:3775996-3785281","ensembl_id":"ENSG00000067082"}}},"hgnc_date_symbol_changed":"2004-12-01"},"entity_type":"gene","entity_name":"KLF6","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. 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":["MGC35097"],"biotype":"protein_coding","hgnc_id":"HGNC:28557","gene_name":"kelch domain containing 8B","omim_gene":["613169"],"alias_name":null,"gene_symbol":"KLHDC8B","hgnc_symbol":"KLHDC8B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:49209044-49213917","ensembl_id":"ENSG00000185909"}},"GRch38":{"90":{"location":"3:49171611-49176486","ensembl_id":"ENSG00000185909"}}},"hgnc_date_symbol_changed":"2005-12-05"},"entity_type":"gene","entity_name":"KLHDC8B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{Hodgkin lymphoma, susceptibility to} 236000"],"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. 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":["FLJ32662"],"biotype":"protein_coding","hgnc_id":"HGNC:18829","gene_name":"kelch like family member 10","omim_gene":["608778"],"alias_name":null,"gene_symbol":"KLHL10","hgnc_symbol":"KLHL10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:39991937-40004636","ensembl_id":"ENSG00000161594"}},"GRch38":{"90":{"location":"17:41835685-41848384","ensembl_id":"ENSG00000161594"}}},"hgnc_date_symbol_changed":"2002-07-29"},"entity_type":"gene","entity_name":"KLHL10","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["17047026","15136734","31479588"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Spermatogenic failure 11, MIM# 615081"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["DRE1","FLJ20059"],"biotype":"protein_coding","hgnc_id":"HGNC:25947","gene_name":"kelch like family member 24","omim_gene":["611295"],"alias_name":null,"gene_symbol":"KLHL24","hgnc_symbol":"KLHL24","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:183353356-183402265","ensembl_id":"ENSG00000114796"}},"GRch38":{"90":{"location":"3:183635568-183684477","ensembl_id":"ENSG00000114796"}}},"hgnc_date_symbol_changed":"2005-09-10"},"entity_type":"gene","entity_name":"KLHL24","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29779254","30120936","30715372"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy MIM# 617294","Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM#\t620236"],"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":["KIAA1129"],"biotype":"protein_coding","hgnc_id":"HGNC:6354","gene_name":"kelch like family member 3","omim_gene":["605775"],"alias_name":null,"gene_symbol":"KLHL3","hgnc_symbol":"KLHL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:136953189-137071779","ensembl_id":"ENSG00000146021"}},"GRch38":{"90":{"location":"5:137617500-137736090","ensembl_id":"ENSG00000146021"}}},"hgnc_date_symbol_changed":"1999-11-26"},"entity_type":"gene","entity_name":"KLHL3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22266938","22406640","24821705","34022862","32462939"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Pseudohypoaldosteronism, type IID, MIM# 614495"],"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":["SRYP","NEM8"],"biotype":"protein_coding","hgnc_id":"HGNC:30372","gene_name":"kelch like family member 40","omim_gene":["615340"],"alias_name":["sarcosynapsin","nemaline myopathy type 8"],"gene_symbol":"KLHL40","hgnc_symbol":"KLHL40","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:42727011-42734036","ensembl_id":"ENSG00000157119"}},"GRch38":{"90":{"location":"3:42685519-42692544","ensembl_id":"ENSG00000157119"}}},"hgnc_date_symbol_changed":"2013-01-08"},"entity_type":"gene","entity_name":"KLHL40","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23746549","24960163","32352246","31908664","27528495"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Nemaline myopathy 8, autosomal recessive, MIM# 615348"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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":["SARCOSIN","Krp1"],"biotype":"protein_coding","hgnc_id":"HGNC:16905","gene_name":"kelch like family member 41","omim_gene":["607701"],"alias_name":["sarcomeric muscle protein"],"gene_symbol":"KLHL41","hgnc_symbol":"KLHL41","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:170366212-170382772","ensembl_id":"ENSG00000239474"}},"GRch38":{"90":{"location":"2:169509702-169526262","ensembl_id":"ENSG00000239474"}}},"hgnc_date_symbol_changed":"2013-01-08"},"entity_type":"gene","entity_name":"KLHL41","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24268659","30986853","28939701","28826497"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Nemaline myopathy 9, MIM# 615731"],"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":["KLHL6","SBBI26","RP42"],"biotype":"protein_coding","hgnc_id":"HGNC:15646","gene_name":"kelch like family member 7","omim_gene":["611119"],"alias_name":["retinitis pigmentosa 42"],"gene_symbol":"KLHL7","hgnc_symbol":"KLHL7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:23145353-23217533","ensembl_id":"ENSG00000122550"}},"GRch38":{"90":{"location":"7:23105758-23177914","ensembl_id":"ENSG00000122550"}}},"hgnc_date_symbol_changed":"2002-05-21"},"entity_type":"gene","entity_name":"KLHL7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31953236","30300710","31856884"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["PERCHING syndrome (MIM#617055)","Retinitis pigmentosa 42 (MIM#612943)"],"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":["Klk6"],"biotype":"protein_coding","hgnc_id":"HGNC:6357","gene_name":"kallikrein 1","omim_gene":["147910"],"alias_name":null,"gene_symbol":"KLK1","hgnc_symbol":"KLK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:51322404-51327043","ensembl_id":"ENSG00000167748"}},"GRch38":{"90":{"location":"19:50819148-50823787","ensembl_id":"ENSG00000167748"}}},"hgnc_date_symbol_changed":"1988-06-27"},"entity_type":"gene","entity_name":"KLK1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31727138","17573418"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["[Kallikrein, decreased urinary activity of] 615953","Pulmonary arterial hypertension MONDO:0015924"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["EMSP","EMSP1","PSTS","KLK-L1"],"biotype":"protein_coding","hgnc_id":"HGNC:6365","gene_name":"kallikrein related peptidase 4","omim_gene":["603767"],"alias_name":["enamel matrix serine proteinase 1"],"gene_symbol":"KLK4","hgnc_symbol":"KLK4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:51409608-51413994","ensembl_id":"ENSG00000167749"}},"GRch38":{"90":{"location":"19:50906352-50910738","ensembl_id":"ENSG00000167749"}}},"hgnc_date_symbol_changed":"1999-04-29"},"entity_type":"gene","entity_name":"KLK4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15235027","23355523","28611678","27066511"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Amelogenesis imperfecta, type IIA1, MIM# 204700"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6371","gene_name":"kallikrein B1","omim_gene":["229000"],"alias_name":["Fletcher factor"],"gene_symbol":"KLKB1","hgnc_symbol":"KLKB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:187130133-187179625","ensembl_id":"ENSG00000164344"}},"GRch38":{"90":{"location":"4:186208979-186258471","ensembl_id":"ENSG00000164344"}}},"hgnc_date_symbol_changed":"1999-04-23"},"entity_type":"gene","entity_name":"KLKB1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["15461630","33073460"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Fletcher factor (prekallikrein) deficiency, MIM# 612423"],"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":["killin"],"biotype":"protein_coding","hgnc_id":"HGNC:37212","gene_name":"killin, p53-regulated DNA replication inhibitor","omim_gene":["612105"],"alias_name":null,"gene_symbol":"KLLN","hgnc_symbol":"KLLN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:89618918-89623194","ensembl_id":"ENSG00000227268"}},"GRch38":{"90":{"location":"10:87859161-87863437","ensembl_id":"ENSG00000227268"}}},"hgnc_date_symbol_changed":"2011-02-18"},"entity_type":"gene","entity_name":"KLLN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21177507"],"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. 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":["TRX1","HRX","ALL-1","HTRX1","CXXC7","MLL1A"],"biotype":"protein_coding","hgnc_id":"HGNC:7132","gene_name":"lysine methyltransferase 2A","omim_gene":["159555"],"alias_name":null,"gene_symbol":"KMT2A","hgnc_symbol":"KMT2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118307205-118397539","ensembl_id":"ENSG00000118058"}},"GRch38":{"90":{"location":"11:118436490-118526832","ensembl_id":"ENSG00000118058"}}},"hgnc_date_symbol_changed":"2013-05-09"},"entity_type":"gene","entity_name":"KMT2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16990798"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Wiedemann-Steiner syndrome, MIM# 605130 AD"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["KIAA0304","MLL2","TRX2","HRX2","WBP7","MLL1B","MLL4","CXXC10"],"biotype":"protein_coding","hgnc_id":"HGNC:15840","gene_name":"lysine methyltransferase 2B","omim_gene":["606834"],"alias_name":["myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"],"gene_symbol":"KMT2B","hgnc_symbol":"KMT2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:36208921-36229779","ensembl_id":"ENSG00000272333"}},"GRch38":{"90":{"location":"19:35718019-35738878","ensembl_id":"ENSG00000272333"}}},"hgnc_date_symbol_changed":"2013-05-09"},"entity_type":"gene","entity_name":"KMT2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27839873","27992417","33150406"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Dystonia 28, childhood-onset 617284","MONDO:0015004"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["KIAA1506","HALR"],"biotype":"protein_coding","hgnc_id":"HGNC:13726","gene_name":"lysine methyltransferase 2C","omim_gene":["606833"],"alias_name":null,"gene_symbol":"KMT2C","hgnc_symbol":"KMT2C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:151832010-152133090","ensembl_id":"ENSG00000055609"}},"GRch38":{"90":{"location":"7:152134922-152436005","ensembl_id":"ENSG00000055609"}}},"hgnc_date_symbol_changed":"2013-05-09"},"entity_type":"gene","entity_name":"KMT2C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["39013459"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Kleefstra syndrome 2, MIM#617768","Neurodevelopmental disorder, MONDO:0700092, KMT2C-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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":["ALR","MLL4","CAGL114"],"biotype":"protein_coding","hgnc_id":"HGNC:7133","gene_name":"lysine methyltransferase 2D","omim_gene":["602113"],"alias_name":null,"gene_symbol":"KMT2D","hgnc_symbol":"KMT2D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:49412758-49453557","ensembl_id":"ENSG00000167548"}},"GRch38":{"90":{"location":"12:49018975-49059774","ensembl_id":"ENSG00000167548"}}},"hgnc_date_symbol_changed":"2013-05-09"},"entity_type":"gene","entity_name":"KMT2D","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31949313","32083401"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Kabuki syndrome 1, MIM# 147920","Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH), MIM#620186"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["HDCMC04P"],"biotype":"protein_coding","hgnc_id":"HGNC:18541","gene_name":"lysine methyltransferase 2E","omim_gene":["608444"],"alias_name":null,"gene_symbol":"KMT2E","hgnc_symbol":"KMT2E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:104654626-104754808","ensembl_id":"ENSG00000005483"}},"GRch38":{"90":{"location":"7:105014179-105114361","ensembl_id":"ENSG00000005483"}}},"hgnc_date_symbol_changed":"2013-05-09"},"entity_type":"gene","entity_name":"KMT2E","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31079897"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["O'Donnell-Luria-Rodan syndrome, MIM# 618512"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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-85"],"biotype":"protein_coding","hgnc_id":"HGNC:24283","gene_name":"lysine methyltransferase 5B","omim_gene":["610881"],"alias_name":null,"gene_symbol":"KMT5B","hgnc_symbol":"KMT5B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:67922330-67981295","ensembl_id":"ENSG00000110066"}},"GRch38":{"90":{"location":"11:68154863-68213828","ensembl_id":"ENSG00000110066"}}},"hgnc_date_symbol_changed":"2015-11-05"},"entity_type":"gene","entity_name":"KMT5B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Intellectual developmental disorder, autosomal dominant 51 MIM# 617788"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["BK"],"biotype":"protein_coding","hgnc_id":"HGNC:6383","gene_name":"kininogen 1","omim_gene":["612358"],"alias_name":["alpha-2-thiol proteinase inhibitor","bradykinin"],"gene_symbol":"KNG1","hgnc_symbol":"KNG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:186435065-186461743","ensembl_id":"ENSG00000113889"}},"GRch38":{"90":{"location":"3:186717276-186743954","ensembl_id":"ENSG00000113889"}}},"hgnc_date_symbol_changed":"2004-05-26"},"entity_type":"gene","entity_name":"KNG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["41634406","40848077","36700498","33114181","32185598","31858768","31087670"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["angioedema, hereditary, 6, MONDO:0023660","congenital high-molecular-weight kininogen deficiency, MONDO:0009234"],"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":["D40","AF15Q14","CT29","KIAA1570","hKNL-1","hSpc105","PPP1R55","Spc7"],"biotype":"protein_coding","hgnc_id":"HGNC:24054","gene_name":"kinetochore scaffold 1","omim_gene":["609173"],"alias_name":["cancer/testis antigen 29","kinetochore null 1 homolog (C. elegans)","blinkin, bub-linking kinetochore protein","protein phosphatase 1, regulatory subunit 55"],"gene_symbol":"KNL1","hgnc_symbol":"KNL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:40886218-40956540","ensembl_id":"ENSG00000137812"}},"GRch38":{"90":{"location":"15:40594020-40664342","ensembl_id":"ENSG00000137812"}}},"hgnc_date_symbol_changed":"2016-06-13"},"entity_type":"gene","entity_name":"KNL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22983954","26626498","27149178","30304678","27784895"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Microcephaly 4, primary, autosomal recessive, MIM# 604321","MONDO:0011437"],"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":["2E4"],"biotype":"protein_coding","hgnc_id":"HGNC:6404","gene_name":"kaptin, actin binding protein","omim_gene":["615620"],"alias_name":null,"gene_symbol":"KPTN","hgnc_symbol":"KPTN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:47978401-47987525","ensembl_id":"ENSG00000118162"}},"GRch38":{"90":{"location":"19:47475144-47484268","ensembl_id":"ENSG00000118162"}}},"hgnc_date_symbol_changed":"1999-08-27"},"entity_type":"gene","entity_name":"KPTN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24239382","32358097","32808430"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mental retardation, autosomal recessive 41 (MIM#615637)"],"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":["KRAS1"],"biotype":"protein_coding","hgnc_id":"HGNC:6407","gene_name":"KRAS proto-oncogene, GTPase","omim_gene":["190070"],"alias_name":null,"gene_symbol":"KRAS","hgnc_symbol":"KRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:25357723-25403870","ensembl_id":"ENSG00000133703"}},"GRch38":{"90":{"location":"12:25204789-25250936","ensembl_id":"ENSG00000133703"}}},"hgnc_date_symbol_changed":"2005-01-24"},"entity_type":"gene","entity_name":"KRAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["23059812","17056636"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cardiofaciocutaneous syndrome 2 615278","Noonan syndrome 3 609942","RAS-associated autoimmune leukoproliferative disorder 614470","Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["CAM"],"biotype":"protein_coding","hgnc_id":"HGNC:1573","gene_name":"KRIT1, ankyrin repeat containing","omim_gene":["604214"],"alias_name":null,"gene_symbol":"KRIT1","hgnc_symbol":"KRIT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:91828283-91875480","ensembl_id":"ENSG00000001631"}},"GRch38":{"90":{"location":"7:92198969-92246166","ensembl_id":"ENSG00000001631"}}},"hgnc_date_symbol_changed":"2005-03-17"},"entity_type":"gene","entity_name":"KRIT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16571644","29593473"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cavernous malformations of CNS and retina, 116860","Cerebral cavernous malformations-1, 116860","Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["founder"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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":["KRT1A"],"biotype":"protein_coding","hgnc_id":"HGNC:6412","gene_name":"keratin 1","omim_gene":["139350"],"alias_name":null,"gene_symbol":"KRT1","hgnc_symbol":"KRT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:53068520-53074191","ensembl_id":"ENSG00000167768"}},"GRch38":{"90":{"location":"12:52674736-52680407","ensembl_id":"ENSG00000167768"}}},"hgnc_date_symbol_changed":"1991-09-12"},"entity_type":"gene","entity_name":"KRT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7511022","21271994","11286630"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ichthyosis MONDO:0019269, KRT1-related","Palmoplantar keratosis MONDO:0006590, KRT1-related","Epidermolytic hyperkeratosis, MIM#113800","Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602","Ichthyosis histrix, Curth-Macklin type, MIM# 146590","Palmoplantar keratoderma, epidermolytic, MIM# 144200","Palmoplantar keratoderma, nonepidermolytic, MIM# 600962"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["K10","CK10"],"biotype":"protein_coding","hgnc_id":"HGNC:6413","gene_name":"keratin 10","omim_gene":["148080"],"alias_name":["cytokeratin 10","epidermolytic hyperkeratosis"],"gene_symbol":"KRT10","hgnc_symbol":"KRT10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:38974369-38978847","ensembl_id":"ENSG00000186395"}},"GRch38":{"90":{"location":"17:40818117-40822595","ensembl_id":"ENSG00000186395"}}},"hgnc_date_symbol_changed":"1988-08-12"},"entity_type":"gene","entity_name":"KRT10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26176760","20798280","31638346","18219278","16505000"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ichthyosis MONDO:0019269, KRT10-related","Epidermolytic hyperkeratosis, MIM#113800","Ichthyosis with confetti, MIM#609165","Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM#607602"],"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":["K12"],"biotype":"protein_coding","hgnc_id":"HGNC:6414","gene_name":"keratin 12","omim_gene":["601687"],"alias_name":["Meesmann corneal dystrophy"],"gene_symbol":"KRT12","hgnc_symbol":"KRT12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:39017555-39023462","ensembl_id":"ENSG00000187242"}},"GRch38":{"90":{"location":"17:40861303-40867210","ensembl_id":"ENSG00000187242"}}},"hgnc_date_symbol_changed":"1997-07-22"},"entity_type":"gene","entity_name":"KRT12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9171831","22174841"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Meesmann corneal dystrophy 1, MIM# 122100"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["K13","CK13","MGC3781","MGC161462"],"biotype":"protein_coding","hgnc_id":"HGNC:6415","gene_name":"keratin 13","omim_gene":["148065"],"alias_name":["keratin, type I cytoskeletal 13","cytokeratin 13"],"gene_symbol":"KRT13","hgnc_symbol":"KRT13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:39657233-39661957","ensembl_id":"ENSG00000171401"}},"GRch38":{"90":{"location":"17:41500981-41505705","ensembl_id":"ENSG00000171401"}}},"hgnc_date_symbol_changed":"1990-11-05"},"entity_type":"gene","entity_name":"KRT13","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7493031","14600690","32758484","29476668"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["White sponge nevus 2, MIM# 615785"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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:6416","gene_name":"keratin 14","omim_gene":["148066"],"alias_name":["epidermolysis bullosa simplex, Dowling-Meara, Koebner"],"gene_symbol":"KRT14","hgnc_symbol":"KRT14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:39738531-39743173","ensembl_id":"ENSG00000186847"}},"GRch38":{"90":{"location":"17:41582279-41586921","ensembl_id":"ENSG00000186847"}}},"hgnc_date_symbol_changed":"1992-04-09"},"entity_type":"gene","entity_name":"KRT14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["16960809","18049449"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Epidermolysis bullosa MONDO:0006541, KRT14-related","Epidermolysis bullosa simplex, recessive 1, 601001","Dermatopathia pigmentosa reticularis, 125595","Epidermolysis bullosa simplex, Dowling-Meara type, 131760","Epidermolysis bullosa simplex, Koebner type, 131900","Epidermolysis bullosa simplex, Weber-Cockayne type, 131800","Naegeli-Franceschetti-Jadassohn syndrome, 161000"],"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":["NEPPK"],"biotype":"protein_coding","hgnc_id":"HGNC:6423","gene_name":"keratin 16","omim_gene":["148067"],"alias_name":["focal non-epidermolytic palmoplantar keratoderma"],"gene_symbol":"KRT16","hgnc_symbol":"KRT16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:39766030-39772151","ensembl_id":"ENSG00000186832"}},"GRch38":{"90":{"location":"17:41609778-41615899","ensembl_id":"ENSG00000186832"}}},"hgnc_date_symbol_changed":"1992-12-14"},"entity_type":"gene","entity_name":"KRT16","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8595410","10839714"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000)","Pachyonychia congenita 1 (MIM#167200)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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:6427","gene_name":"keratin 17","omim_gene":["148069"],"alias_name":null,"gene_symbol":"KRT17","hgnc_symbol":"KRT17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:39775689-39781094","ensembl_id":"ENSG00000128422"}},"GRch38":{"90":{"location":"17:41619437-41624842","ensembl_id":"ENSG00000128422"}}},"hgnc_date_symbol_changed":"1993-10-18"},"entity_type":"gene","entity_name":"KRT17","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31823354"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Pachyonychia congenita 2, MIM#167210","Steatocystoma multiplex, MIM# 184500"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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:6430","gene_name":"keratin 18","omim_gene":["148070"],"alias_name":null,"gene_symbol":"KRT18","hgnc_symbol":"KRT18","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:53342655-53346685","ensembl_id":"ENSG00000111057"}},"GRch38":{"90":{"location":"12:52948871-52952901","ensembl_id":"ENSG00000111057"}}},"hgnc_date_symbol_changed":"1988-08-12"},"entity_type":"gene","entity_name":"KRT18","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["9011570","27689336","20538000"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Cirrhosis, cryptogenic , MIM#215600"],"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. 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":["KRTE"],"biotype":"protein_coding","hgnc_id":"HGNC:6439","gene_name":"keratin 2","omim_gene":["600194"],"alias_name":["epidermal ichthyosis bullosa of Siemens"],"gene_symbol":"KRT2","hgnc_symbol":"KRT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:53038342-53045948","ensembl_id":"ENSG00000172867"}},"GRch38":{"90":{"location":"12:52644558-52652164","ensembl_id":"ENSG00000172867"}}},"hgnc_date_symbol_changed":"2006-07-17"},"entity_type":"gene","entity_name":"KRT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26581228","22612346"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Superficial epidermolytic ichthyosis (SEI) (MIM#146800)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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:30839","gene_name":"keratin 25","omim_gene":["616646"],"alias_name":null,"gene_symbol":"KRT25","hgnc_symbol":"KRT25","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:38904273-38911584","ensembl_id":"ENSG00000204897"}},"GRch38":{"90":{"location":"17:40748021-40755332","ensembl_id":"ENSG00000204897"}}},"hgnc_date_symbol_changed":"2006-07-17"},"entity_type":"gene","entity_name":"KRT25","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26160856","26902920","29686323","28899683"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Woolly hair, autosomal recessive 3 MIM#616760"],"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":["CK3","K3"],"biotype":"protein_coding","hgnc_id":"HGNC:6440","gene_name":"keratin 3","omim_gene":["148043"],"alias_name":["keratin, type II cytoskeletal 3","cytokeratin 3"],"gene_symbol":"KRT3","hgnc_symbol":"KRT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:53183469-53189901","ensembl_id":"ENSG00000186442"}},"GRch38":{"90":{"location":"12:52789685-52796117","ensembl_id":"ENSG00000186442"}}},"hgnc_date_symbol_changed":"1992-12-04"},"entity_type":"gene","entity_name":"KRT3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9171831","16227835","18806880","26788030"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Meesmann corneal dystrophy 2, MIM# 618767"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["CK4","K4"],"biotype":"protein_coding","hgnc_id":"HGNC:6441","gene_name":"keratin 4","omim_gene":["123940"],"alias_name":["cytokeratin 4","keratin, type II cytoskeletal 4"],"gene_symbol":"KRT4","hgnc_symbol":"KRT4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:53200333-53208335","ensembl_id":"ENSG00000170477"}},"GRch38":{"90":{"location":"12:52806549-52814551","ensembl_id":"ENSG00000170477"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"KRT4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7493030","10652003","12828738"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["White sponge naevus 1, MIM# 193900"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["KRT5A"],"biotype":"protein_coding","hgnc_id":"HGNC:6442","gene_name":"keratin 5","omim_gene":["148040"],"alias_name":null,"gene_symbol":"KRT5","hgnc_symbol":"KRT5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52908359-52914471","ensembl_id":"ENSG00000186081"}},"GRch38":{"90":{"location":"12:52514575-52520687","ensembl_id":"ENSG00000186081"}}},"hgnc_date_symbol_changed":"1991-09-12"},"entity_type":"gene","entity_name":"KRT5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Epidermolysis bullosa MONDO:0006541, KRT5-related","Dowling-Degos disease 1, MIM# 179850","Epidermolysis bullosa simplex-MCR, MIM# 609352","Epidermolysis bullosa simplex-MP 131960","Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760","Epidermolysis bullosa simplex, Koebner type, MIM# 131900","Epidermolysis bullosa simplex, recessive 1, MIM# 601001","Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800"],"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":["CK6C","K6C","CK6D","K6D"],"biotype":"protein_coding","hgnc_id":"HGNC:6443","gene_name":"keratin 6A","omim_gene":["148041"],"alias_name":null,"gene_symbol":"KRT6A","hgnc_symbol":"KRT6A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52880958-52887041","ensembl_id":"ENSG00000205420"}},"GRch38":{"90":{"location":"12:52487174-52493257","ensembl_id":"ENSG00000205420"}}},"hgnc_date_symbol_changed":"1991-09-12"},"entity_type":"gene","entity_name":"KRT6A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["21326300"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Pachyonychia congenita 3 (MIM#615726)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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:6444","gene_name":"keratin 6B","omim_gene":["148042"],"alias_name":null,"gene_symbol":"KRT6B","hgnc_symbol":"KRT6B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52840435-52845910","ensembl_id":"ENSG00000185479"}},"GRch38":{"90":{"location":"12:52446651-52452126","ensembl_id":"ENSG00000185479"}}},"hgnc_date_symbol_changed":"1991-09-12"},"entity_type":"gene","entity_name":"KRT6B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31823354"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Pachyonychia congenita 4 (MIM#615728)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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:20406","gene_name":"keratin 6C","omim_gene":["612315"],"alias_name":null,"gene_symbol":"KRT6C","hgnc_symbol":"KRT6C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52862300-52867569","ensembl_id":"ENSG00000170465"}},"GRch38":{"90":{"location":"12:52468516-52473785","ensembl_id":"ENSG00000170465"}}},"hgnc_date_symbol_changed":"2006-07-17"},"entity_type":"gene","entity_name":"KRT6C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31823354"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["K6IRS4","KRT5C","KRT6IRS4"],"biotype":"protein_coding","hgnc_id":"HGNC:28929","gene_name":"keratin 74","omim_gene":["608248"],"alias_name":null,"gene_symbol":"KRT74","hgnc_symbol":"KRT74","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52959566-52967609","ensembl_id":"ENSG00000170484"}},"GRch38":{"90":{"location":"12:52565782-52573825","ensembl_id":"ENSG00000170484"}}},"hgnc_date_symbol_changed":"2006-07-17"},"entity_type":"gene","entity_name":"KRT74","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["24714551","21188418","20346438","21188418"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Ectodermal dysplasia 7, hair/nail type MIM#614929","Hypotrichosis 3 , MIM# 613981","Woolly hair, autosomal dominant, MIM# 194300"],"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":["K6HF"],"biotype":"protein_coding","hgnc_id":"HGNC:24431","gene_name":"keratin 75","omim_gene":["609025"],"alias_name":null,"gene_symbol":"KRT75","hgnc_symbol":"KRT75","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52817854-52828309","ensembl_id":"ENSG00000170454"}},"GRch38":{"90":{"location":"12:52424070-52434525","ensembl_id":"ENSG00000170454"}}},"hgnc_date_symbol_changed":"2006-07-17"},"entity_type":"gene","entity_name":"KRT75","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{Pseudofolliculitis barbae, susceptibility to} 612318"],"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. 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":["CARD2","K8","CK8","CYK8","K2C8","KO"],"biotype":"protein_coding","hgnc_id":"HGNC:6446","gene_name":"keratin 8","omim_gene":["148060"],"alias_name":null,"gene_symbol":"KRT8","hgnc_symbol":"KRT8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:53290977-53343738","ensembl_id":"ENSG00000170421"}},"GRch38":{"90":{"location":"12:52897187-52949954","ensembl_id":"ENSG00000170421"}}},"hgnc_date_symbol_changed":"1988-08-12"},"entity_type":"gene","entity_name":"KRT8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["15235035","11372009","12724528"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Cirrhosis, cryptogenic, MIM#\t215600"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["Hb-1"],"biotype":"protein_coding","hgnc_id":"HGNC:6458","gene_name":"keratin 81","omim_gene":["602153"],"alias_name":["hard keratin type II 1"],"gene_symbol":"KRT81","hgnc_symbol":"KRT81","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52679697-52685318","ensembl_id":"ENSG00000205426"}},"GRch38":{"90":{"location":"12:52285913-52291534","ensembl_id":"ENSG00000205426"}}},"hgnc_date_symbol_changed":"2006-07-17"},"entity_type":"gene","entity_name":"KRT81","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9402962","22628999"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Monilethrix, MIM# 621169"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["Hb-3"],"biotype":"protein_coding","hgnc_id":"HGNC:6460","gene_name":"keratin 83","omim_gene":["602765"],"alias_name":["hard keratin type II"],"gene_symbol":"KRT83","hgnc_symbol":"KRT83","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52708085-52715182","ensembl_id":"ENSG00000170523"}},"GRch38":{"90":{"location":"12:52314301-52321398","ensembl_id":"ENSG00000170523"}}},"hgnc_date_symbol_changed":"2006-07-17"},"entity_type":"gene","entity_name":"KRT83","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["27965375","15744029","25557232"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Erythrokeratodermia variabilis et progressiva 5, MIM# 617756","Monilethrix , MIM#621170"],"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":["Hb-5"],"biotype":"protein_coding","hgnc_id":"HGNC:6462","gene_name":"keratin 85","omim_gene":["602767"],"alias_name":["hard keratin type II"],"gene_symbol":"KRT85","hgnc_symbol":"KRT85","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52753790-52761265","ensembl_id":"ENSG00000135443"}},"GRch38":{"90":{"location":"12:52360006-52367481","ensembl_id":"ENSG00000135443"}}},"hgnc_date_symbol_changed":"2006-07-17"},"entity_type":"gene","entity_name":"KRT85","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16525032","19865094","31273852"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Ectodermal dysplasia 4, hair/nail type MIM#602032"],"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}]}