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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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["UBOX4","NMP200","PSO4","hPSO4","SNEV"],"biotype":"protein_coding","hgnc_id":"HGNC:17896","gene_name":"pre-mRNA processing factor 19","omim_gene":["608330"],"alias_name":["nuclear matrix protein NMP200 related to splicing factor PRP19","psoralen 4"],"gene_symbol":"PRPF19","hgnc_symbol":"PRPF19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:60658202-60674060","ensembl_id":"ENSG00000110107"}},"GRch38":{"90":{"location":"11:60890730-60906588","ensembl_id":"ENSG00000110107"}}},"hgnc_date_symbol_changed":"2005-04-01"},"entity_type":"gene","entity_name":"PRPF19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37962958"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO:0700092), PRPF19-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. 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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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["CYP-40"],"biotype":"protein_coding","hgnc_id":"HGNC:9257","gene_name":"peptidylprolyl isomerase D","omim_gene":["601753"],"alias_name":["cyclophilin 40"],"gene_symbol":"PPID","hgnc_symbol":"PPID","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:159630286-159644548","ensembl_id":"ENSG00000171497"}},"GRch38":{"90":{"location":"4:158709134-158723396","ensembl_id":"ENSG00000171497"}}},"hgnc_date_symbol_changed":"1995-08-23"},"entity_type":"gene","entity_name":"PPID","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["37977818"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Stutter disorder, (MONDO:0000723), PPID-related"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["IBD2","SEL1L1"],"biotype":"protein_coding","hgnc_id":"HGNC:10717","gene_name":"SEL1L ERAD E3 ligase adaptor subunit","omim_gene":["602329"],"alias_name":["sel-1 suppressor of lin-12-like 1 (C. elegans)"],"gene_symbol":"SEL1L","hgnc_symbol":"SEL1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:81937893-82000205","ensembl_id":"ENSG00000071537"}},"GRch38":{"90":{"location":"14:81471549-81533861","ensembl_id":"ENSG00000071537"}}},"hgnc_date_symbol_changed":"1997-04-25"},"entity_type":"gene","entity_name":"SEL1L","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["PMID: 37943610","PMID: 37943617"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinaemia, MIM# 621068","Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, MIM# 621067"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["HREV107","H-REV107-1","HREV107-3","MGC118754.","AdPLA"],"biotype":"protein_coding","hgnc_id":"HGNC:17825","gene_name":"phospholipase A2 group XVI","omim_gene":["613867"],"alias_name":["adipose-specific PLA2"],"gene_symbol":"PLA2G16","hgnc_symbol":"PLA2G16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:63340667-63384355","ensembl_id":"ENSG00000176485"}},"GRch38":{"90":{"location":"11:63573195-63616883","ensembl_id":"ENSG00000176485"}}},"hgnc_date_symbol_changed":"2008-09-19"},"entity_type":"gene","entity_name":"PLA2G16","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37919452"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Lipodystrophy, familial partial, type 9, MIM# 620683"],"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. 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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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["FLJ20321","ZNF693","castor","cst","SRG"],"biotype":"protein_coding","hgnc_id":"HGNC:26002","gene_name":"castor zinc finger 1","omim_gene":["609895"],"alias_name":["zinc finger protein 693","survival related gene"],"gene_symbol":"CASZ1","hgnc_symbol":"CASZ1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:10696661-10856707","ensembl_id":"ENSG00000130940"}},"GRch38":{"90":{"location":"1:10636604-10796650","ensembl_id":"ENSG00000130940"}}},"hgnc_date_symbol_changed":"2005-05-13"},"entity_type":"gene","entity_name":"CASZ1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28099117","36293425","31268246"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Dilated cardiomyopathy, MONDO:0005021, CASZ1-related","left ventricular non compaction"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":[]},{"gene_data":{"alias":["PRIMA"],"biotype":"protein_coding","hgnc_id":"HGNC:18319","gene_name":"proline rich membrane anchor 1","omim_gene":["613851"],"alias_name":["membrane anchor of acetylcholinesterase"],"gene_symbol":"PRIMA1","hgnc_symbol":"PRIMA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:94184644-94254827","ensembl_id":"ENSG00000175785"}},"GRch38":{"90":{"location":"14:93718298-93788481","ensembl_id":"ENSG00000175785"}}},"hgnc_date_symbol_changed":"2002-04-26"},"entity_type":"gene","entity_name":"PRIMA1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["26339676"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Frontal Lobe Epilepsy MONDO:0002612"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":[]},{"gene_data":{"alias":["Kir3.1","GIRK1","KGA"],"biotype":"protein_coding","hgnc_id":"HGNC:6264","gene_name":"potassium voltage-gated channel subfamily J member 3","omim_gene":["601534"],"alias_name":null,"gene_symbol":"KCNJ3","hgnc_symbol":"KCNJ3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:155554811-155714863","ensembl_id":"ENSG00000162989"}},"GRch38":{"90":{"location":"2:154698299-154858352","ensembl_id":"ENSG00000162989"}}},"hgnc_date_symbol_changed":"1994-02-08"},"entity_type":"gene","entity_name":"KCNJ3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37963718"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Epilepsy (MONDO#0005027), KCNJ3-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. 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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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["KMT8D"],"biotype":"protein_coding","hgnc_id":"HGNC:13993","gene_name":"PR/SET domain 8","omim_gene":["616639"],"alias_name":null,"gene_symbol":"PRDM8","hgnc_symbol":"PRDM8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:81105033-81125483","ensembl_id":"ENSG00000152784"}},"GRch38":{"90":{"location":"4:80183879-80204329","ensembl_id":"ENSG00000152784"}}},"hgnc_date_symbol_changed":"2000-11-28"},"entity_type":"gene","entity_name":"PRDM8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["2296154","35034233"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Epilepsy, progressive myoclonic, 10 MIM#616640"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":[]},{"gene_data":{"alias":["HSP70-HOM","hum70t"],"biotype":"protein_coding","hgnc_id":"HGNC:5234","gene_name":"heat shock protein family A (Hsp70) member 1 like","omim_gene":["140559"],"alias_name":null,"gene_symbol":"HSPA1L","hgnc_symbol":"HSPA1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31777396-31783437","ensembl_id":"ENSG00000204390"}},"GRch38":{"90":{"location":"6:31809619-31815065","ensembl_id":"ENSG00000204390"}}},"hgnc_date_symbol_changed":"1989-05-12"},"entity_type":"gene","entity_name":"HSPA1L","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["28126021"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["inflammatory bowel disease, MONDO:0005265"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["SIR2L1"],"biotype":"protein_coding","hgnc_id":"HGNC:14929","gene_name":"sirtuin 1","omim_gene":["604479"],"alias_name":null,"gene_symbol":"SIRT1","hgnc_symbol":"SIRT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:69644427-69678147","ensembl_id":"ENSG00000096717"}},"GRch38":{"90":{"location":"10:67884669-67918390","ensembl_id":"ENSG00000096717"}}},"hgnc_date_symbol_changed":"2001-03-20"},"entity_type":"gene","entity_name":"SIRT1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["23473037"],"evidence":["Expert Review Red","Literature"],"phenotypes":["autoimmune disease, MONDO:0007179","monogenic diabetes MONDO:0015967"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["SV2","KIAA0736"],"biotype":"protein_coding","hgnc_id":"HGNC:20566","gene_name":"synaptic vesicle glycoprotein 2A","omim_gene":["185860"],"alias_name":null,"gene_symbol":"SV2A","hgnc_symbol":"SV2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:149874870-149889434","ensembl_id":"ENSG00000159164"}},"GRch38":{"90":{"location":"1:149903318-149917882","ensembl_id":"ENSG00000159164"}}},"hgnc_date_symbol_changed":"2003-02-24"},"entity_type":"gene","entity_name":"SV2A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37985816"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, SV2A-related","Developmental and epileptic encephalopathy 113, MIM# 620772"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["P72"],"biotype":"protein_coding","hgnc_id":"HGNC:2740","gene_name":"DEAD-box helicase 17","omim_gene":["608469"],"alias_name":null,"gene_symbol":"DDX17","hgnc_symbol":"DDX17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:38879445-38903665","ensembl_id":"ENSG00000100201"}},"GRch38":{"90":{"location":"22:38483440-38507660","ensembl_id":"ENSG00000100201"}}},"hgnc_date_symbol_changed":"1999-08-20"},"entity_type":"gene","entity_name":"DDX17","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["https://www.medrxiv.org/search/DDX17"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO#0700092), DDX17-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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["CAGH26","KIAA1460","GW182"],"biotype":"protein_coding","hgnc_id":"HGNC:11969","gene_name":"trinucleotide repeat containing 6A","omim_gene":["610739"],"alias_name":null,"gene_symbol":"TNRC6A","hgnc_symbol":"TNRC6A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:24741016-24838953","ensembl_id":"ENSG00000090905"}},"GRch38":{"90":{"location":"16:24610209-24827632","ensembl_id":"ENSG00000090905"}}},"hgnc_date_symbol_changed":"2004-12-17"},"entity_type":"gene","entity_name":"TNRC6A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 29507423","33040085"],"evidence":["Expert Review Red","Literature"],"phenotypes":["?Epilepsy, familial adult myoclonic, 6 MIM#618074"],"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. 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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":[]},{"gene_data":{"alias":["HNF-6"],"biotype":"protein_coding","hgnc_id":"HGNC:8138","gene_name":"one cut homeobox 1","omim_gene":["604164"],"alias_name":null,"gene_symbol":"ONECUT1","hgnc_symbol":"ONECUT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:53049637-53083273","ensembl_id":"ENSG00000169856"}},"GRch38":{"90":{"location":"15:52756989-52791078","ensembl_id":"ENSG00000169856"}}},"hgnc_date_symbol_changed":"2000-02-11"},"entity_type":"gene","entity_name":"ONECUT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37639628","34663987","10825208"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neonatal diabetes mellitus MONDO:0016391"],"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. 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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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["HUGT1"],"biotype":"protein_coding","hgnc_id":"HGNC:15663","gene_name":"UDP-glucose glycoprotein glucosyltransferase 1","omim_gene":["605897"],"alias_name":null,"gene_symbol":"UGGT1","hgnc_symbol":"UGGT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:128848774-128953251","ensembl_id":"ENSG00000136731"}},"GRch38":{"90":{"location":"2:128091200-128195677","ensembl_id":"ENSG00000136731"}}},"hgnc_date_symbol_changed":"2009-07-23"},"entity_type":"gene","entity_name":"UGGT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 40267907"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Congenital disorder of glycosylation, type IICC, MIM# 621381"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":[]},{"gene_data":{"alias":["PPP1R159"],"biotype":"protein_coding","hgnc_id":"HGNC:12337","gene_name":"transient receptor potential cation channel subfamily C member 5","omim_gene":["300334"],"alias_name":["protein phosphatase 1, regulatory subunit 159"],"gene_symbol":"TRPC5","hgnc_symbol":"TRPC5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:111017543-111326004","ensembl_id":"ENSG00000072315"}},"GRch38":{"90":{"location":"X:111774315-112082776","ensembl_id":"ENSG00000072315"}}},"hgnc_date_symbol_changed":"1996-03-12"},"entity_type":"gene","entity_name":"TRPC5","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 36323681","24817631","23033978","33504798","28191890","40907672"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, TRPC5-related"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7828","gene_name":"nitrilase 1","omim_gene":["604618"],"alias_name":null,"gene_symbol":"NIT1","hgnc_symbol":"NIT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161087876-161095235","ensembl_id":"ENSG00000158793"}},"GRch38":{"90":{"location":"1:161118086-161125445","ensembl_id":"ENSG00000158793"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"NIT1","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["38430071"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Brain small vessel disease 4, MIM# 621313"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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-20","H_NH1244M04.5","CEE","TRC35"],"biotype":"protein_coding","hgnc_id":"HGNC:21690","gene_name":"golgi to ER traffic protein 4","omim_gene":["612056"],"alias_name":["CGI-20 protein","conserved edge protein","transmembrane domain recognition complex, 35kDa"],"gene_symbol":"GET4","hgnc_symbol":"GET4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:916189-936073","ensembl_id":"ENSG00000239857"}},"GRch38":{"90":{"location":"7:876552-896436","ensembl_id":"ENSG00000239857"}}},"hgnc_date_symbol_changed":"2010-03-24"},"entity_type":"gene","entity_name":"GET4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["32395830"],"evidence":["Expert Review Red","Literature"],"phenotypes":["?Congenital disorder of glycosylation,, type IIy MIM#620200"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":[]},{"gene_data":{"alias":["tRNA(Sec)"],"biotype":null,"hgnc_id":"HGNC:12348","gene_name":"transfer RNA-SeC (TCA) 1-1","omim_gene":["165060"],"alias_name":null,"gene_symbol":"TRU-TCA1-1","hgnc_symbol":"TRU-TCA1-1","hgnc_release":"2017-11-03","ensembl_genes":{},"hgnc_date_symbol_changed":"2014-06-19"},"entity_type":"gene","entity_name":"TRU-TCA1-1","confidence_level":"0","penetrance":null,"mode_of_pathogenicity":null,"publications":["26854926","34956927"],"evidence":["Literature"],"phenotypes":["Inherited thyroid metabolism disease, MONDO:0045046, TRU-TCA1-1 related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["technically challenging"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["CAML","GET2"],"biotype":"protein_coding","hgnc_id":"HGNC:1471","gene_name":"calcium modulating ligand","omim_gene":["601118"],"alias_name":["calcium-modulating cyclophilin ligand","calcium-signal modulating cyclophilin ligand","cyclophilin B-binding protein"],"gene_symbol":"CAMLG","hgnc_symbol":"CAMLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:134074191-134087847","ensembl_id":"ENSG00000164615"}},"GRch38":{"90":{"location":"5:134738501-134752160","ensembl_id":"ENSG00000164615"}}},"hgnc_date_symbol_changed":"1994-02-08"},"entity_type":"gene","entity_name":"CAMLG","confidence_level":"1","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["PMID: 35262690"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Congenital disorder of glycosylation type IIz, OMIM# 620201"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["FLJ43249","LOC165186","Crescerin-2"],"biotype":"protein_coding","hgnc_id":"HGNC:33715","gene_name":"TOG array regulator of axonemal microtubules 2","omim_gene":null,"alias_name":["crescerin 2"],"gene_symbol":"TOGARAM2","hgnc_symbol":"TOGARAM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:29179477-29284239","ensembl_id":"ENSG00000189350"}},"GRch38":{"90":{"location":"2:28956611-29061373","ensembl_id":"ENSG00000189350"}}},"hgnc_date_symbol_changed":"2017-01-13"},"entity_type":"gene","entity_name":"TOGARAM2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID:38374469"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Nonsyndromic genetic hearing loss (MONDO:0019497), TOGARAM2-related"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["hsa-mir-145","MIR-145"],"biotype":null,"hgnc_id":"HGNC:31532","gene_name":"microRNA 145","omim_gene":["611795"],"alias_name":null,"gene_symbol":"MIR145","hgnc_symbol":"MIR145","hgnc_release":"2017-11-03","ensembl_genes":{},"hgnc_date_symbol_changed":"2008-12-18"},"entity_type":"gene","entity_name":"MIR145","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["36649075"],"evidence":["Expert Review Red","Literature"],"phenotypes":["multisystemic smooth muscle dysfunction syndrome (MONDO:0013452), MIR145-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["non-coding gene"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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:10002","gene_name":"regulator of G protein signaling 6","omim_gene":["603894"],"alias_name":null,"gene_symbol":"RGS6","hgnc_symbol":"RGS6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:72399156-73030654","ensembl_id":"ENSG00000182732"}},"GRch38":{"90":{"location":"14:71932439-72566529","ensembl_id":"ENSG00000182732"}}},"hgnc_date_symbol_changed":"1999-05-17"},"entity_type":"gene","entity_name":"RGS6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["38332109","25525169"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, RGS6-related"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":[]},{"gene_data":{"alias":["FLJ25138","DKFZP434F0318"],"biotype":"protein_coding","hgnc_id":"HGNC:25268","gene_name":"apolipoprotein L domain containing 1","omim_gene":["612456"],"alias_name":null,"gene_symbol":"APOLD1","hgnc_symbol":"APOLD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:12878851-12982909","ensembl_id":"ENSG00000178878"}},"GRch38":{"90":{"location":"12:12725917-12829975","ensembl_id":"ENSG00000178878"}}},"hgnc_date_symbol_changed":"2006-01-23"},"entity_type":"gene","entity_name":"APOLD1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["35638551"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Bleeding disorder, vascular-type (MIM#620715)"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2478","gene_name":"cystatin E/M","omim_gene":["601891"],"alias_name":null,"gene_symbol":"CST6","hgnc_symbol":"CST6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65779312-65780976","ensembl_id":"ENSG00000175315"}},"GRch38":{"90":{"location":"11:66011841-66013505","ensembl_id":"ENSG00000175315"}}},"hgnc_date_symbol_changed":"1996-12-12"},"entity_type":"gene","entity_name":"CST6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30425301","36371786"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ectodermal dysplasia 15, hypohidrotic/hair type MIM#618535"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12997","gene_name":"zinc finger and SCAN domain containing 10","omim_gene":null,"alias_name":null,"gene_symbol":"ZSCAN10","hgnc_symbol":"ZSCAN10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:3138891-3149318","ensembl_id":"ENSG00000130182"}},"GRch38":{"90":{"location":"16:3088890-3099317","ensembl_id":"ENSG00000130182"}}},"hgnc_date_symbol_changed":"2007-02-20"},"entity_type":"gene","entity_name":"ZSCAN10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38386308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Otofacial neurodevelopmental syndrome, MIM# 620910"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["MEGF2","HFMI1","FMI1","CDHF11","ADGRC3"],"biotype":"protein_coding","hgnc_id":"HGNC:3230","gene_name":"cadherin EGF LAG seven-pass G-type receptor 3","omim_gene":["604264"],"alias_name":["flamingo homolog 1 (Drosophila)","adhesion G protein-coupled receptor C3"],"gene_symbol":"CELSR3","hgnc_symbol":"CELSR3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:48673902-48700348","ensembl_id":"ENSG00000008300"}},"GRch38":{"90":{"location":"3:48636469-48662915","ensembl_id":"ENSG00000008300"}}},"hgnc_date_symbol_changed":"1998-03-25"},"entity_type":"gene","entity_name":"CELSR3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38429302"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO#0700092), CELSR3-related"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["APG4-D"],"biotype":"protein_coding","hgnc_id":"HGNC:20789","gene_name":"autophagy related 4D cysteine peptidase","omim_gene":["611340"],"alias_name":null,"gene_symbol":"ATG4D","hgnc_symbol":"ATG4D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:10654571-10664094","ensembl_id":"ENSG00000130734"}},"GRch38":{"90":{"location":"19:10543895-10553418","ensembl_id":"ENSG00000130734"}}},"hgnc_date_symbol_changed":"2005-09-11"},"entity_type":"gene","entity_name":"ATG4D","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["PMID: 36765070","33988247"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, ATG4D-related","Spermatogenic failure 101, MIM# 621269"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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:40028","gene_name":"ubiquitin associated protein 1 like","omim_gene":null,"alias_name":null,"gene_symbol":"UBAP1L","hgnc_symbol":"UBAP1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:65385338-65407535","ensembl_id":"ENSG00000246922"}},"GRch38":{"90":{"location":"15:65092770-65115197","ensembl_id":"ENSG00000246922"}}},"hgnc_date_symbol_changed":"2011-08-15"},"entity_type":"gene","entity_name":"UBAP1L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38293907","38420906"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Retinal dystrophy, Zeitz-Han type, MIM# 621558"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":["SIII"],"biotype":"protein_coding","hgnc_id":"HGNC:11617","gene_name":"elongin C","omim_gene":["600788"],"alias_name":null,"gene_symbol":"ELOC","hgnc_symbol":"ELOC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:74851404-74884522","ensembl_id":"ENSG00000154582"}},"GRch38":{"90":{"location":"8:73939169-73972287","ensembl_id":"ENSG00000154582"}}},"hgnc_date_symbol_changed":"2016-10-31"},"entity_type":"gene","entity_name":"ELOC","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["35323939"],"evidence":["Expert Review Red","Literature"],"phenotypes":["von Hippel-Lindau disease, MONDO:0008667","renal cell carcinoma, MONDO:0005086","retinal hemangioblastoma, MONDO:0003343"],"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. 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It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":[]},{"gene_data":{"alias":["SLIM3","DRAL"],"biotype":"protein_coding","hgnc_id":"HGNC:3703","gene_name":"four and a half LIM domains 2","omim_gene":["602633"],"alias_name":null,"gene_symbol":"FHL2","hgnc_symbol":"FHL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:105974169-106054970","ensembl_id":"ENSG00000115641"}},"GRch38":{"90":{"location":"2:105357712-105438513","ensembl_id":"ENSG00000115641"}}},"hgnc_date_symbol_changed":"1997-08-28"},"entity_type":"gene","entity_name":"FHL2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["36854411","25358972"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Cardiomyopathy, MONDO:0004994, FHL2-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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":[]},{"gene_data":{"alias":["NKEFA"],"biotype":"protein_coding","hgnc_id":"HGNC:9352","gene_name":"peroxiredoxin 1","omim_gene":["176763"],"alias_name":null,"gene_symbol":"PRDX1","hgnc_symbol":"PRDX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45976708-45988719","ensembl_id":"ENSG00000117450"}},"GRch38":{"90":{"location":"1:45511036-45523047","ensembl_id":"ENSG00000117450"}}},"hgnc_date_symbol_changed":"1993-11-01"},"entity_type":"gene","entity_name":"PRDX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["29302025","35190856"],"evidence":["Expert Review Green","Literature"],"phenotypes":["methylmalonic aciduria and homocystinuria type cblC MONDO:0010184"],"mode_of_inheritance":"Other","tags":["digenic"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+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":[]},{"gene_data":{"alias":["TGT"],"biotype":"protein_coding","hgnc_id":"HGNC:12612","gene_name":"ubiquitin specific peptidase 14","omim_gene":["607274"],"alias_name":null,"gene_symbol":"USP14","hgnc_symbol":"USP14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:158383-214629","ensembl_id":"ENSG00000101557"}},"GRch38":{"90":{"location":"18:158383-214629","ensembl_id":"ENSG00000101557"}}},"hgnc_date_symbol_changed":"1999-02-01"},"entity_type":"gene","entity_name":"USP14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["38469793","35066879"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Syndromic disease MONDO:0002254, USP14-related"],"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. 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It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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