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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Atoh5","Math4B","ngn3","bHLHa7"],"biotype":"protein_coding","hgnc_id":"HGNC:13806","gene_name":"neurogenin 3","omim_gene":["604882"],"alias_name":null,"gene_symbol":"NEUROG3","hgnc_symbol":"NEUROG3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:71331454-71332994","ensembl_id":"ENSG00000122859"}},"GRch38":{"90":{"location":"10:69571698-69573238","ensembl_id":"ENSG00000122859"}}},"hgnc_date_symbol_changed":"2000-11-28"},"entity_type":"gene","entity_name":"NEUROG3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16855267","32574610","28724572","21490072"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Diarrhoea 4, malabsorptive, congenital, MIM# 610370"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["nexilin","NELIN"],"biotype":"protein_coding","hgnc_id":"HGNC:29557","gene_name":"nexilin F-actin binding protein","omim_gene":["613121"],"alias_name":null,"gene_symbol":"NEXN","hgnc_symbol":"NEXN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:78354198-78409580","ensembl_id":"ENSG00000162614"}},"GRch38":{"90":{"location":"1:77888513-77943895","ensembl_id":"ENSG00000162614"}}},"hgnc_date_symbol_changed":"2004-01-09"},"entity_type":"gene","entity_name":"NEXN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33947203","33949776","35166435","32058062"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cardiomyopathy, dilated, 2M, autosomal recessive, MIM# 621261","Cardiomyopathy, dilated 1CC - MIM#613122"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:7765","gene_name":"neurofibromin 1","omim_gene":["613113"],"alias_name":["neurofibromatosis","von Recklinghausen disease","Watson disease"],"gene_symbol":"NF1","hgnc_symbol":"NF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:29421945-29709134","ensembl_id":"ENSG00000196712"}},"GRch38":{"90":{"location":"17:31094927-31382116","ensembl_id":"ENSG00000196712"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"NF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Leukemia, juvenile myelomonocytic 607785","Neurofibromatosis, familial spinal 162210","Neurofibromatosis, type 1 162200","Neurofibromatosis-Noonan syndrome 601321","Watson syndrome 193520"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TONEBP","KIAA0827","NFATL1","OREBP","NFATZ","NF-AT5"],"biotype":"protein_coding","hgnc_id":"HGNC:7774","gene_name":"nuclear factor of activated T-cells 5","omim_gene":["604708"],"alias_name":["tonicity-responsive enhancer binding protein"],"gene_symbol":"NFAT5","hgnc_symbol":"NFAT5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:69598997-69738569","ensembl_id":"ENSG00000102908"}},"GRch38":{"90":{"location":"16:69565094-69704666","ensembl_id":"ENSG00000102908"}}},"hgnc_date_symbol_changed":"1999-07-16"},"entity_type":"gene","entity_name":"NFAT5","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["25667416","36238298"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Immune deficiency disease, MONDO:0003778, NFAT5-related","Recurrent infections","Autoimmune enterocolopathy","EBV susceptibility","HLH"],"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":["NFI-L","KIAA1439"],"biotype":"protein_coding","hgnc_id":"HGNC:7784","gene_name":"nuclear factor I A","omim_gene":["600727"],"alias_name":null,"gene_symbol":"NFIA","hgnc_symbol":"NFIA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:61330931-61928465","ensembl_id":"ENSG00000162599"}},"GRch38":{"90":{"location":"1:60865259-61462793","ensembl_id":"ENSG00000162599"}}},"hgnc_date_symbol_changed":"1995-03-09"},"entity_type":"gene","entity_name":"NFIA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["35018717","33973697","32926563"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Brain malformations with or without urinary tract defects - MIM#613735"],"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":["NFI-RED","NFIB2","NFIB3"],"biotype":"protein_coding","hgnc_id":"HGNC:7785","gene_name":"nuclear factor I B","omim_gene":["600728"],"alias_name":null,"gene_symbol":"NFIB","hgnc_symbol":"NFIB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:14081842-14398982","ensembl_id":"ENSG00000147862"}},"GRch38":{"90":{"location":"9:14081843-14398983","ensembl_id":"ENSG00000147862"}}},"hgnc_date_symbol_changed":"1995-03-09"},"entity_type":"gene","entity_name":"NFIB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30388402"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Macrocephaly, acquired, with impaired intellectual development, MIM#618286"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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":["NF1A"],"biotype":"protein_coding","hgnc_id":"HGNC:7788","gene_name":"nuclear factor I X","omim_gene":["164005"],"alias_name":["CCAAT-binding transcription factor"],"gene_symbol":"NFIX","hgnc_symbol":"NFIX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:13106422-13209610","ensembl_id":"ENSG00000008441"}},"GRch38":{"90":{"location":"19:12995608-13098796","ensembl_id":"ENSG00000008441"}}},"hgnc_date_symbol_changed":"1993-11-03"},"entity_type":"gene","entity_name":"NFIX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33034087","29897170","30548146","25118028"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Sotos syndrome 2 (MIM#614753)","Marshall-Smith syndrome, MIM# 602535"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KBF1","p105","NFKB-p50","p50","NF-kappaB","NFkappaB","NF-kB1"],"biotype":"protein_coding","hgnc_id":"HGNC:7794","gene_name":"nuclear factor kappa B subunit 1","omim_gene":["164011"],"alias_name":null,"gene_symbol":"NFKB1","hgnc_symbol":"NFKB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:103422486-103538459","ensembl_id":"ENSG00000109320"}},"GRch38":{"90":{"location":"4:102501329-102617302","ensembl_id":"ENSG00000109320"}}},"hgnc_date_symbol_changed":"1991-11-14"},"entity_type":"gene","entity_name":"NFKB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26279205","32278790","27022143","7834752"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency, common variable, 12 MIM# 616576","Normal-low IgG, IgA, IgM","low-normal B cells","low switched memory B cells","hypogammaglobulinaemia","recurrent respiratory and gastrointestinal infections","Chronic obstructive pulmonary disease COPD","EBV proliferation","autoimmunity","alopecia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["L11"],"biotype":"protein_coding","hgnc_id":"HGNC:10301","gene_name":"ribosomal protein L11","omim_gene":["604175"],"alias_name":null,"gene_symbol":"RPL11","hgnc_symbol":"RPL11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:24018269-24022915","ensembl_id":"ENSG00000142676"}},"GRch38":{"90":{"location":"1:23691779-23696425","ensembl_id":"ENSG00000142676"}}},"hgnc_date_symbol_changed":"1998-07-23"},"entity_type":"gene","entity_name":"RPL11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19061985"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Diamond-Blackfan anemia 7, MIM# 612562","MONDO:0012938"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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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":["CLAN1","ipaf","CLANA","CLANB","CLANC","CLAND","CLR2.1","CLAN"],"biotype":"protein_coding","hgnc_id":"HGNC:16412","gene_name":"NLR family CARD domain containing 4","omim_gene":["606831"],"alias_name":["nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4","NOD-like receptor C4"],"gene_symbol":"NLRC4","hgnc_symbol":"NLRC4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:32449522-32490923","ensembl_id":"ENSG00000091106"}},"GRch38":{"90":{"location":"2:32224453-32265854","ensembl_id":"ENSG00000091106"}}},"hgnc_date_symbol_changed":"2006-12-08"},"entity_type":"gene","entity_name":"NLRC4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25217959","25385754","25217960"],"evidence":["Expert Review Amber","Literature","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["periodic fever-infantile enterocolitis-autoinflammatory syndrome MONDO:0014472"],"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":["KIAA0926","DKFZp586O1822","CARD7","NAC","CLR17.1","DEFCAP","VAMAS1"],"biotype":"protein_coding","hgnc_id":"HGNC:14374","gene_name":"NLR family pyrin domain containing 1","omim_gene":["606636"],"alias_name":["nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"],"gene_symbol":"NLRP1","hgnc_symbol":"NLRP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:5402747-5522744","ensembl_id":"ENSG00000091592"}},"GRch38":{"90":{"location":"17:5499427-5619424","ensembl_id":"ENSG00000091592"}}},"hgnc_date_symbol_changed":"2006-12-08"},"entity_type":"gene","entity_name":"NLRP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27965258","31484767","27662089"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Autoinflammation with arthritis and dyskeratosis, MIM# 617388","Palmoplantar carcinoma, multiple self-healing, MIM# 615225","Recurrent respiratory papillomatosis"],"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":["RNO2","PYPAF7","Monarch1","PAN6","CLR19.3"],"biotype":"protein_coding","hgnc_id":"HGNC:22938","gene_name":"NLR family pyrin domain containing 12","omim_gene":["609648"],"alias_name":["nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"],"gene_symbol":"NLRP12","hgnc_symbol":"NLRP12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:54296857-54327648","ensembl_id":"ENSG00000142405"}},"GRch38":{"90":{"location":"19:53793603-53824394","ensembl_id":"ENSG00000142405"}}},"hgnc_date_symbol_changed":"2006-12-08"},"entity_type":"gene","entity_name":"NLRP12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18230725","21360512","24064030","27633793","38343435"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Familial cold autoinflammatory syndrome 2 - MIM#611762"],"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":["FLJ20510","PYPAF2","NBS1","PAN1","CLR19.9"],"biotype":"protein_coding","hgnc_id":"HGNC:22948","gene_name":"NLR family pyrin domain containing 2","omim_gene":["609364"],"alias_name":["nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"],"gene_symbol":"NLRP2","hgnc_symbol":"NLRP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:55464498-55512510","ensembl_id":"ENSG00000022556"}},"GRch38":{"90":{"location":"19:54953130-55001142","ensembl_id":"ENSG00000022556"}}},"hgnc_date_symbol_changed":"2006-12-08"},"entity_type":"gene","entity_name":"NLRP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30877238","19300480","29574422","33090377","30877238","35643636","39887367","41044650"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Oocyte/zygote/embryo maturation arrest 18, MONDO:0957230"],"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":["AGTAVPRL","AII","AVP","FCAS","FCU","NALP3","PYPAF1","MWS","CLR1.1"],"biotype":"protein_coding","hgnc_id":"HGNC:16400","gene_name":"NLR family pyrin domain containing 3","omim_gene":["606416"],"alias_name":["Cryopyrin","nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"],"gene_symbol":"NLRP3","hgnc_symbol":"NLRP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:247579458-247612410","ensembl_id":"ENSG00000162711"}},"GRch38":{"90":{"location":"1:247416156-247449108","ensembl_id":"ENSG00000162711"}}},"hgnc_date_symbol_changed":"2006-12-08"},"entity_type":"gene","entity_name":"NLRP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["25038238"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Familial cold inflammatory syndrome 1, MIM#120100","Muckle-Wells syndrome, MIM#191900","CINCA syndrome, MIM#607115","Deafness, autosomal dominant 34, with or without inflammation, MIM#617772","Keratoendothelitis fugax hereditaria, MIM#148200"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["DCDC4B"],"biotype":"protein_coding","hgnc_id":"HGNC:15946","gene_name":"RP1 like 1","omim_gene":["608581"],"alias_name":["doublecortin domain containing 4B"],"gene_symbol":"RP1L1","hgnc_symbol":"RP1L1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:10463859-10569697","ensembl_id":"ENSG00000183638"}},"GRch38":{"90":{"location":"8:10606349-10712187","ensembl_id":"ENSG00000183638"}}},"hgnc_date_symbol_changed":"2001-07-26"},"entity_type":"gene","entity_name":"RP1L1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23281133","30025130","32360662"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Occult macular dystrophy (MIM#613587) AD","Retinitis pigmentosa 88 (MIM#618826) AR"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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