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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":[],"biotype":"protein_coding","hgnc_id":"HGNC:19966","gene_name":"unc-79 homolog, NALCN channel complex subunit","omim_gene":["616884"],"alias_name":null,"gene_symbol":"UNC79","hgnc_symbol":"UNC79","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:93799565-94174222","ensembl_id":"ENSG00000133958"}},"GRch38":{"90":{"location":"14:93333219-93707876","ensembl_id":"ENSG00000133958"}}},"hgnc_date_symbol_changed":"2011-08-18"},"entity_type":"gene","entity_name":"UNC79","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID:37183800"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO:0700092), UNC79-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. 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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":"1.4749","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":["H7365","CT120.1"],"biotype":"protein_coding","hgnc_id":"HGNC:11866","gene_name":"transmembrane protein with EGF like and two follistatin like domains 1","omim_gene":["603421"],"alias_name":["tomoregulin-1","cancer/testis antigen family 120, member 1"],"gene_symbol":"TMEFF1","hgnc_symbol":"TMEFF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:103204560-103339918","ensembl_id":"ENSG00000241697"}},"GRch38":{"90":{"location":"9:100473113-100577636","ensembl_id":"ENSG00000241697"}}},"hgnc_date_symbol_changed":"1998-08-06"},"entity_type":"gene","entity_name":"TMEFF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39048830"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hereditary susceptibility to infections, MONDO:0015979, TMEFF1-related","HSV encephalitis"],"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":["DJ1042K10.2","RUSC3","RabGAP-5","RABGAP5"],"biotype":"protein_coding","hgnc_id":"HGNC:25228","gene_name":"small G protein signaling modulator 3","omim_gene":["610440"],"alias_name":["RUN and SH3 containing 3"],"gene_symbol":"SGSM3","hgnc_symbol":"SGSM3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:40766595-40806293","ensembl_id":"ENSG00000100359"}},"GRch38":{"90":{"location":"22:40370591-40410289","ensembl_id":"ENSG00000100359"}}},"hgnc_date_symbol_changed":"2007-08-14"},"entity_type":"gene","entity_name":"SGSM3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37833060","39390489"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder, autosomal recessive 84, MIM#\t620401"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":["LPAAT-gamma"],"biotype":"protein_coding","hgnc_id":"HGNC:326","gene_name":"1-acylglycerol-3-phosphate O-acyltransferase 3","omim_gene":["614794"],"alias_name":null,"gene_symbol":"AGPAT3","hgnc_symbol":"AGPAT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:45285067-45406417","ensembl_id":"ENSG00000160216"}},"GRch38":{"90":{"location":"21:43865186-43986536","ensembl_id":"ENSG00000160216"}}},"hgnc_date_symbol_changed":"2000-05-16"},"entity_type":"gene","entity_name":"AGPAT3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["37821758"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO#0700092), AGPAT3-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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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":["ICH1","PPP1R57","MGC2181"],"biotype":"protein_coding","hgnc_id":"HGNC:1503","gene_name":"caspase 2","omim_gene":["600639"],"alias_name":["protein phosphatase 1, regulatory subunit 57"],"gene_symbol":"CASP2","hgnc_symbol":"CASP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:142985308-143004789","ensembl_id":"ENSG00000106144"}},"GRch38":{"90":{"location":"7:143288215-143307696","ensembl_id":"ENSG00000106144"}}},"hgnc_date_symbol_changed":"1994-01-21"},"entity_type":"gene","entity_name":"CASP2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["37880421"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM# 620653"],"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":["hsa-mir-204"],"biotype":"miRNA","hgnc_id":"HGNC:31582","gene_name":"microRNA 204","omim_gene":["610942"],"alias_name":null,"gene_symbol":"MIR204","hgnc_symbol":"MIR204","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:73424891-73425000","ensembl_id":"ENSG00000207935"}},"GRch38":{"90":{"location":"9:70809975-70810084","ensembl_id":"ENSG00000207935"}}},"hgnc_date_symbol_changed":"2008-12-18"},"entity_type":"gene","entity_name":"MIR204","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["26056285","37321975","38867642","20713703","31332443"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Retinal dystrophy and iris coloboma with or without cataract (MIM#616722)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["KIAA0985","rabphilin","exophilin-1"],"biotype":"protein_coding","hgnc_id":"HGNC:17056","gene_name":"rabphilin 3A","omim_gene":["612159"],"alias_name":null,"gene_symbol":"RPH3A","hgnc_symbol":"RPH3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:113008184-113336686","ensembl_id":"ENSG00000089169"}},"GRch38":{"90":{"location":"12:112570380-112898881","ensembl_id":"ENSG00000089169"}}},"hgnc_date_symbol_changed":"2003-12-10"},"entity_type":"gene","entity_name":"RPH3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37403762","29441694"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO#0700092), RPH3A-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":[],"biotype":"protein_coding","hgnc_id":"HGNC:11302","gene_name":"signal recognition particle 68","omim_gene":["604858"],"alias_name":null,"gene_symbol":"SRP68","hgnc_symbol":"SRP68","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:74035184-74068734","ensembl_id":"ENSG00000167881"}},"GRch38":{"90":{"location":"17:76038775-76072653","ensembl_id":"ENSG00000167881"}}},"hgnc_date_symbol_changed":"1991-12-05"},"entity_type":"gene","entity_name":"SRP68","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32273475"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Neutropenia, severe congenital, 10, autosomal recessive, MIM# 620534"],"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:3029","gene_name":"developmentally regulated GTP binding protein 1","omim_gene":["603952"],"alias_name":null,"gene_symbol":"DRG1","hgnc_symbol":"DRG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:31795509-31924726","ensembl_id":"ENSG00000185721"}},"GRch38":{"90":{"location":"22:31399523-31530634","ensembl_id":"ENSG00000185721"}}},"hgnc_date_symbol_changed":"1994-01-21"},"entity_type":"gene","entity_name":"DRG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37179472"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Tan-Almurshedi syndrome, MIM#\t620641"],"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":["KIAA1799","RP4-534K7.1"],"biotype":"protein_coding","hgnc_id":"HGNC:29379","gene_name":"EF-hand calcium binding domain 7","omim_gene":["617632"],"alias_name":null,"gene_symbol":"EFCAB7","hgnc_symbol":"EFCAB7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:63989043-64038364","ensembl_id":"ENSG00000203965"}},"GRch38":{"90":{"location":"1:63523372-63572693","ensembl_id":"ENSG00000203965"}}},"hgnc_date_symbol_changed":"2007-12-06"},"entity_type":"gene","entity_name":"EFCAB7","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37684519"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Polydactyly (MONDO:0021003), EFCAB7-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. 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":["RAB39","RAH","NARR"],"biotype":"protein_coding","hgnc_id":"HGNC:16519","gene_name":"RAB34, member RAS oncogene family","omim_gene":["610917"],"alias_name":["nine-amino acid residue-repeats"],"gene_symbol":"RAB34","hgnc_symbol":"RAB34","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:27041299-27045447","ensembl_id":"ENSG00000109113"}},"GRch38":{"90":{"location":"17:28714281-28718429","ensembl_id":"ENSG00000109113"}}},"hgnc_date_symbol_changed":"2001-09-14"},"entity_type":"gene","entity_name":"RAB34","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["PMID: 37384395"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Orofaciodigital syndrome 20, MIM#620718"],"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":["3'HEXO"],"biotype":"protein_coding","hgnc_id":"HGNC:23994","gene_name":"exoribonuclease 1","omim_gene":["608739"],"alias_name":["exoribonuclease 1","enhanced RNAi three prime mRNA exonuclease homolog 1 (C.elegans)"],"gene_symbol":"ERI1","hgnc_symbol":"ERI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:8859657-8974256","ensembl_id":"ENSG00000104626"}},"GRch38":{"90":{"location":"8:9002147-9116746","ensembl_id":"ENSG00000104626"}}},"hgnc_date_symbol_changed":"2008-12-16"},"entity_type":"gene","entity_name":"ERI1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37352860"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hoxha-Aliu syndrome, MIM# 620662","Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663"],"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":["DKFZP564O0463","Gm83","HSPC064","Sof1"],"biotype":"protein_coding","hgnc_id":"HGNC:24535","gene_name":"DDB1 and CUL4 associated factor 13","omim_gene":["616196"],"alias_name":null,"gene_symbol":"DCAF13","hgnc_symbol":"DCAF13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:104426942-104455681","ensembl_id":"ENSG00000164934"}},"GRch38":{"90":{"location":"8:103414714-103443453","ensembl_id":"ENSG00000164934"}}},"hgnc_date_symbol_changed":"2009-07-17"},"entity_type":"gene","entity_name":"DCAF13","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["36797467"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neuromuscular disease (MONDO#0019056), DCAF13-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. 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":["APC8","ANAPC8","CUT23"],"biotype":"protein_coding","hgnc_id":"HGNC:1724","gene_name":"cell division cycle 23","omim_gene":["603462"],"alias_name":["anaphase promoting complex subunit 8"],"gene_symbol":"CDC23","hgnc_symbol":"CDC23","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:137523339-137549032","ensembl_id":"ENSG00000094880"}},"GRch38":{"90":{"location":"5:138187648-138213343","ensembl_id":"ENSG00000094880"}}},"hgnc_date_symbol_changed":"1998-06-25"},"entity_type":"gene","entity_name":"CDC23","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37768355"],"evidence":["Expert Review Green","Literature"],"phenotypes":["inherited oocyte maturation defect MONDO#0014769, CDC23-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. 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":["GASP","GASP1"],"biotype":"protein_coding","hgnc_id":"HGNC:24834","gene_name":"G protein-coupled receptor associated sorting protein 1","omim_gene":["300417"],"alias_name":null,"gene_symbol":"GPRASP1","hgnc_symbol":"GPRASP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:101906294-101914011","ensembl_id":"ENSG00000198932"}},"GRch38":{"90":{"location":"X:102651366-102659083","ensembl_id":"ENSG00000198932"}}},"hgnc_date_symbol_changed":"2004-08-25"},"entity_type":"gene","entity_name":"GPRASP1","confidence_level":"2","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["37787182"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Arteriovenous hemangioma/malformation, GPRASP1-related, MONDO:0001256"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","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":["SEC34"],"biotype":"protein_coding","hgnc_id":"HGNC:18619","gene_name":"component of oligomeric golgi complex 3","omim_gene":["606975"],"alias_name":null,"gene_symbol":"COG3","hgnc_symbol":"COG3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:46039060-46110765","ensembl_id":"ENSG00000136152"}},"GRch38":{"90":{"location":"13:45464898-45536630","ensembl_id":"ENSG00000136152"}}},"hgnc_date_symbol_changed":"2002-05-09"},"entity_type":"gene","entity_name":"COG3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37711075"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Congenital disorder of glycosylation, type IIbb, MIM#\t620546"],"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. 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":["KIAA1190","DKFZp434N0615"],"biotype":"protein_coding","hgnc_id":"HGNC:26955","gene_name":"zinc finger and BTB domain containing 47","omim_gene":null,"alias_name":null,"gene_symbol":"ZBTB47","hgnc_symbol":"ZBTB47","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:42695176-42709072","ensembl_id":"ENSG00000114853"}},"GRch38":{"90":{"location":"3:42653684-42665854","ensembl_id":"ENSG00000114853"}}},"hgnc_date_symbol_changed":"2006-09-19"},"entity_type":"gene","entity_name":"ZBTB47","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37743782"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO#0700092), ZBTB47-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. 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:33230","gene_name":"zinc finger protein 808","omim_gene":null,"alias_name":null,"gene_symbol":"ZNF808","hgnc_symbol":"ZNF808","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:53030905-53067717","ensembl_id":"ENSG00000198482"}},"GRch38":{"90":{"location":"19:52527652-52564464","ensembl_id":"ENSG00000198482"}}},"hgnc_date_symbol_changed":"2006-12-21"},"entity_type":"gene","entity_name":"ZNF808","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37308312"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Pancreatic agenesis 3, MIM# 620991"],"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":["P2RY15","P2Y15","aKGR"],"biotype":"protein_coding","hgnc_id":"HGNC:4531","gene_name":"oxoglutarate receptor 1","omim_gene":["606922"],"alias_name":["2-oxoglutarate receptor 1","alpha-ketoglutarate receptor 1"],"gene_symbol":"OXGR1","hgnc_symbol":"OXGR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:97637973-97646984","ensembl_id":"ENSG00000165621"}},"GRch38":{"90":{"location":"13:96985719-96994730","ensembl_id":"ENSG00000165621"}}},"hgnc_date_symbol_changed":"2004-07-09"},"entity_type":"gene","entity_name":"OXGR1","confidence_level":"2","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["36571463"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis, MIM# 620374"],"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":["KBTBD14","BTBD20"],"biotype":"protein_coding","hgnc_id":"HGNC:1568","gene_name":"calicin","omim_gene":["603960"],"alias_name":null,"gene_symbol":"CCIN","hgnc_symbol":"CCIN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:36169389-36171329","ensembl_id":"ENSG00000185972"}},"GRch38":{"90":{"location":"9:36169394-36171334","ensembl_id":"ENSG00000185972"}}},"hgnc_date_symbol_changed":"1998-03-25"},"entity_type":"gene","entity_name":"CCIN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36546111","36527329"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spermatogenic failure 91, MIM# 620838"],"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. 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":["ICE(rel)II","ICH-2","TX"],"biotype":"protein_coding","hgnc_id":"HGNC:1505","gene_name":"caspase 4","omim_gene":["602664"],"alias_name":null,"gene_symbol":"CASP4","hgnc_symbol":"CASP4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:104813593-104840163","ensembl_id":"ENSG00000196954"}},"GRch38":{"90":{"location":"11:104942866-104969436","ensembl_id":"ENSG00000196954"}}},"hgnc_date_symbol_changed":"1996-07-22"},"entity_type":"gene","entity_name":"CASP4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["37647624"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["Hereditary susceptibility to infection, MONDO:0015979, CASP4-related","Susceptibility to meliodiosis"],"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":["TLSP"],"biotype":"protein_coding","hgnc_id":"HGNC:6359","gene_name":"kallikrein related peptidase 11","omim_gene":["604434"],"alias_name":null,"gene_symbol":"KLK11","hgnc_symbol":"KLK11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:51525472-51531295","ensembl_id":"ENSG00000167757"}},"GRch38":{"90":{"location":"19:51022216-51028039","ensembl_id":"ENSG00000167757"}}},"hgnc_date_symbol_changed":"1999-10-19"},"entity_type":"gene","entity_name":"KLK11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36689511","37212630"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ichthyosis with erythrokeratoderma, MIM# 620507"],"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":["CX37"],"biotype":"protein_coding","hgnc_id":"HGNC:4278","gene_name":"gap junction protein alpha 4","omim_gene":["121012"],"alias_name":["connexin 37"],"gene_symbol":"GJA4","hgnc_symbol":"GJA4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:35258599-35261348","ensembl_id":"ENSG00000187513"}},"GRch38":{"90":{"location":"1:34792998-34795747","ensembl_id":"ENSG00000187513"}}},"hgnc_date_symbol_changed":"1991-07-11"},"entity_type":"gene","entity_name":"GJA4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33912852"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Cavernous hemangioma, MONDO:0003155, GJA4-related"],"mode_of_inheritance":"Other","tags":["somatic"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","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":["RAB5CL"],"biotype":"protein_coding","hgnc_id":"HGNC:9785","gene_name":"RAB5C, member RAS oncogene family","omim_gene":["604037"],"alias_name":["RAB, member of RAS oncogene family-like","RAB5C, member of RAS oncogene family"],"gene_symbol":"RAB5C","hgnc_symbol":"RAB5C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40276994-40307035","ensembl_id":"ENSG00000108774"}},"GRch38":{"90":{"location":"17:42124976-42155044","ensembl_id":"ENSG00000108774"}}},"hgnc_date_symbol_changed":"1999-10-04"},"entity_type":"gene","entity_name":"RAB5C","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["PMID: 37552066"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder MONDO:0700092, RAB5C-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":["Hb2E"],"biotype":"protein_coding","hgnc_id":"HGNC:14944","gene_name":"protein phosphatase 1 regulatory subunit 3F","omim_gene":null,"alias_name":null,"gene_symbol":"PPP1R3F","hgnc_symbol":"PPP1R3F","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:49126306-49157929","ensembl_id":"ENSG00000049769"}},"GRch38":{"90":{"location":"X:49269843-49301461","ensembl_id":"ENSG00000049769"}}},"hgnc_date_symbol_changed":"2001-06-29"},"entity_type":"gene","entity_name":"PPP1R3F","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["37531237"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-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. 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:20232","gene_name":"vestigial like family member 2","omim_gene":["609979"],"alias_name":null,"gene_symbol":"VGLL2","hgnc_symbol":"VGLL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:117586721-117594728","ensembl_id":"ENSG00000170162"}},"GRch38":{"90":{"location":"6:117265558-117273565","ensembl_id":"ENSG00000170162"}}},"hgnc_date_symbol_changed":"2003-04-30"},"entity_type":"gene","entity_name":"VGLL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Other"],"phenotypes":["Syngnathia, MONDO:0015409, VGLL2-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. 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":["IKKE","IKK-i","KIAA0151"],"biotype":null,"hgnc_id":"HGNC:14552","gene_name":"inhibitor of nuclear factor kappa B kinase subunit epsilon","omim_gene":["605048"],"alias_name":null,"gene_symbol":"IKBKE","hgnc_symbol":"IKBKE","hgnc_release":"2017-11-03","ensembl_genes":{},"hgnc_date_symbol_changed":"2002-12-02"},"entity_type":"gene","entity_name":"IKBKE","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["37937644"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-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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