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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":"1.4756","version_created":"2026-04-21T17:26:37.026127+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":["KIAA1404","FLJ11277"],"biotype":"protein_coding","hgnc_id":"HGNC:29271","gene_name":"zinc finger NFX1-type containing 1","omim_gene":null,"alias_name":null,"gene_symbol":"ZNFX1","hgnc_symbol":"ZNFX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:47854483-47894963","ensembl_id":"ENSG00000124201"}},"GRch38":{"90":{"location":"20:49237946-49278426","ensembl_id":"ENSG00000124201"}}},"hgnc_date_symbol_changed":"2006-02-17"},"entity_type":"gene","entity_name":"ZNFX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33872655","33876776","34708404"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Immunodeficiency 91 and hyperinflammation, MIM# 619644"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+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":["bHLHb32","HERP1","HESR2"],"biotype":"protein_coding","hgnc_id":"HGNC:4881","gene_name":"hes related family bHLH transcription factor with YRPW motif 2","omim_gene":["604674"],"alias_name":null,"gene_symbol":"HEY2","hgnc_symbol":"HEY2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:126068810-126082415","ensembl_id":"ENSG00000135547"}},"GRch38":{"90":{"location":"6:125747664-125761269","ensembl_id":"ENSG00000135547"}}},"hgnc_date_symbol_changed":"1999-10-12"},"entity_type":"gene","entity_name":"HEY2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32820247","40481234"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Congenital heart disease, MONDO:0005453, HEY2-related","thoracic aortic aneurysms"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":"1.4756","version_created":"2026-04-21T17:26:37.026127+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":["FLJ13291"],"biotype":"protein_coding","hgnc_id":"HGNC:25807","gene_name":"solute carrier family 7 member 6 opposite strand","omim_gene":null,"alias_name":null,"gene_symbol":"SLC7A6OS","hgnc_symbol":"SLC7A6OS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:68318406-68344849","ensembl_id":"ENSG00000103061"}},"GRch38":{"90":{"location":"16:68284503-68310946","ensembl_id":"ENSG00000103061"}}},"hgnc_date_symbol_changed":"2005-09-01"},"entity_type":"gene","entity_name":"SLC7A6OS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["33085104"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Epilepsy, progressive myoclonic, 12, MIM# 619191"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+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:16410","gene_name":"DnaJ heat shock protein family (Hsp40) member C30","omim_gene":null,"alias_name":null,"gene_symbol":"DNAJC30","hgnc_symbol":"DNAJC30","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:73095299-73097783","ensembl_id":"ENSG00000176410"}},"GRch38":{"90":{"location":"7:73680969-73683453","ensembl_id":"ENSG00000176410"}}},"hgnc_date_symbol_changed":"2008-06-17"},"entity_type":"gene","entity_name":"DNAJC30","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33465056"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Leber Hereditary Optic Neuropathy, MIM#619382"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+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":["YNL147W"],"biotype":"protein_coding","hgnc_id":"HGNC:20470","gene_name":"LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated","omim_gene":["607287"],"alias_name":null,"gene_symbol":"LSM7","hgnc_symbol":"LSM7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:2321516-2328619","ensembl_id":"ENSG00000130332"}},"GRch38":{"90":{"location":"19:2321517-2328620","ensembl_id":"ENSG00000130332"}}},"hgnc_date_symbol_changed":"2003-02-17"},"entity_type":"gene","entity_name":"LSM7","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["DOI:https://doi.org/10.1016/j.xhgg.2021.100034"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Leukodystrophy and cerebellar atrophy, MIM# 621191"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+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":["FLJ12042","MESRGP","BOR","DasraB"],"biotype":"protein_coding","hgnc_id":"HGNC:14629","gene_name":"cell division cycle associated 8","omim_gene":["609977"],"alias_name":["borealin"],"gene_symbol":"CDCA8","hgnc_symbol":"CDCA8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:38158090-38175391","ensembl_id":"ENSG00000134690"}},"GRch38":{"90":{"location":"1:37692418-37709719","ensembl_id":"ENSG00000134690"}}},"hgnc_date_symbol_changed":"2002-04-03"},"entity_type":"gene","entity_name":"CDCA8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["28025328","29546359"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Congenital hypothyroidism, thyroid dysgenesis, no OMIM #"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+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":["PTPMEG"],"biotype":"protein_coding","hgnc_id":"HGNC:9656","gene_name":"protein tyrosine phosphatase, non-receptor type 4","omim_gene":["176878"],"alias_name":null,"gene_symbol":"PTPN4","hgnc_symbol":"PTPN4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:120517207-120741394","ensembl_id":"ENSG00000088179"}},"GRch38":{"90":{"location":"2:119759631-119983818","ensembl_id":"ENSG00000088179"}}},"hgnc_date_symbol_changed":"1992-02-12"},"entity_type":"gene","entity_name":"PTPN4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["17953619","25424712","30238967","34527963"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, PTPN4-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":"1.4756","version_created":"2026-04-21T17:26:37.026127+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:6189","gene_name":"jagged 2","omim_gene":["602570"],"alias_name":null,"gene_symbol":"JAG2","hgnc_symbol":"JAG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:105607318-105635161","ensembl_id":"ENSG00000184916"}},"GRch38":{"90":{"location":"14:105140981-105168824","ensembl_id":"ENSG00000184916"}}},"hgnc_date_symbol_changed":"1998-06-05"},"entity_type":"gene","entity_name":"JAG2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 33861953"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Muscular dystrophy, limb-girdle, autosomal recessive 27, MIM# 619566","muscular dystrophy"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+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":["HuF2","ZGRF6"],"biotype":"protein_coding","hgnc_id":"HGNC:12398","gene_name":"transcription termination factor 2","omim_gene":["604718"],"alias_name":["zinc finger, GRF-type containing 6","transcription release factor 2"],"gene_symbol":"TTF2","hgnc_symbol":"TTF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:117602925-117650075","ensembl_id":"ENSG00000116830"}},"GRch38":{"90":{"location":"1:117060303-117107453","ensembl_id":"ENSG00000116830"}}},"hgnc_date_symbol_changed":"1998-10-14"},"entity_type":"gene","entity_name":"TTF2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["30022773"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["congenital hypothyroidism, thyroid dysgenesis, No OMIM #"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+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":["KIAA0700"],"biotype":"protein_coding","hgnc_id":"HGNC:19354","gene_name":"SIN3 transcription regulator family member B","omim_gene":["607777"],"alias_name":null,"gene_symbol":"SIN3B","hgnc_symbol":"SIN3B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:16940211-16991164","ensembl_id":"ENSG00000127511"}},"GRch38":{"90":{"location":"19:16829400-16880353","ensembl_id":"ENSG00000127511"}}},"hgnc_date_symbol_changed":"2002-10-09"},"entity_type":"gene","entity_name":"SIN3B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 33811806"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, SIN3B-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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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":"1.4756","version_created":"2026-04-21T17:26:37.026127+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":["FADS5"],"biotype":"protein_coding","hgnc_id":"HGNC:10571","gene_name":"stearoyl-CoA desaturase","omim_gene":["604031"],"alias_name":["acyl-CoA desaturase","fatty acid desaturase","delta-9-desaturase"],"gene_symbol":"SCD","hgnc_symbol":"SCD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:102106881-102124591","ensembl_id":"ENSG00000099194"}},"GRch38":{"90":{"location":"10:100347124-100364834","ensembl_id":"ENSG00000099194"}}},"hgnc_date_symbol_changed":"1995-01-03"},"entity_type":"gene","entity_name":"SCD","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 33690217","10899171"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Adrenoleukodystrophy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+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":["FLJ10766","KIAA0483","Fbx28","CENP-30"],"biotype":"protein_coding","hgnc_id":"HGNC:29046","gene_name":"F-box protein 28","omim_gene":["609100"],"alias_name":["centromere protein 30"],"gene_symbol":"FBXO28","hgnc_symbol":"FBXO28","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:224301789-224349749","ensembl_id":"ENSG00000143756"}},"GRch38":{"90":{"location":"1:224114087-224162047","ensembl_id":"ENSG00000143756"}}},"hgnc_date_symbol_changed":"2004-06-15"},"entity_type":"gene","entity_name":"FBXO28","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33280099"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 100, MIM# 619777"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+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:6600","gene_name":"DNA ligase 3","omim_gene":["600940"],"alias_name":null,"gene_symbol":"LIG3","hgnc_symbol":"LIG3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:33307513-33332083","ensembl_id":"ENSG00000005156"}},"GRch38":{"90":{"location":"17:34980494-35009743","ensembl_id":"ENSG00000005156"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"LIG3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33855352"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+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":["KIDCR","DCR","SDR20C1"],"biotype":"protein_coding","hgnc_id":"HGNC:18985","gene_name":"dicarbonyl and L-xylulose reductase","omim_gene":["608347"],"alias_name":["short chain dehydrogenase/reductase family 20C, member 1"],"gene_symbol":"DCXR","hgnc_symbol":"DCXR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:79993012-79995608","ensembl_id":"ENSG00000169738"}},"GRch38":{"90":{"location":"17:82035136-82037732","ensembl_id":"ENSG00000169738"}}},"hgnc_date_symbol_changed":"2002-07-25"},"entity_type":"gene","entity_name":"DCXR","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["22042873"],"evidence":["Expert Review Amber","Expert list","Expert Review Amber","NHS GMS"],"phenotypes":["Pentosuria MIM#260800","Disorders of pentose metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":"1.4756","version_created":"2026-04-21T17:26:37.026127+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":["DKFZp761F0118","KIAA1380","FLJ14374","KDM3C"],"biotype":"protein_coding","hgnc_id":"HGNC:12313","gene_name":"jumonji domain containing 1C","omim_gene":["604503"],"alias_name":null,"gene_symbol":"JMJD1C","hgnc_symbol":"JMJD1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:64926981-65225722","ensembl_id":"ENSG00000171988"}},"GRch38":{"90":{"location":"10:63167221-63521850","ensembl_id":"ENSG00000171988"}}},"hgnc_date_symbol_changed":"2004-04-01"},"entity_type":"gene","entity_name":"JMJD1C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26181491","32996679"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Intellectual disability (MONDO#0001071), JMJD1C-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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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":"1.4756","version_created":"2026-04-21T17:26:37.026127+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":["SHK"],"biotype":"protein_coding","hgnc_id":"HGNC:1492","gene_name":"sedoheptulokinase","omim_gene":["605060"],"alias_name":null,"gene_symbol":"SHPK","hgnc_symbol":"SHPK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:3511556-3539616","ensembl_id":"ENSG00000197417"}},"GRch38":{"90":{"location":"17:3608262-3636322","ensembl_id":"ENSG00000197417"}}},"hgnc_date_symbol_changed":"2008-02-08"},"entity_type":"gene","entity_name":"SHPK","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["25647543","27604308"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Sedoheptulokinase deficiency MIM#617213"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+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":["AGO","FLJ11071","SEL-10","SEL10","FBW7","FBX30","CDC4","FBXW6"],"biotype":"protein_coding","hgnc_id":"HGNC:16712","gene_name":"F-box and WD repeat domain containing 7","omim_gene":["606278"],"alias_name":["archipelago homolog (Drosophila)"],"gene_symbol":"FBXW7","hgnc_symbol":"FBXW7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:153242410-153457253","ensembl_id":"ENSG00000109670"}},"GRch38":{"90":{"location":"4:152321259-152536101","ensembl_id":"ENSG00000109670"}}},"hgnc_date_symbol_changed":"2001-12-20"},"entity_type":"gene","entity_name":"FBXW7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33057194","30885698","26482194"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental delay, hypotonia, and impaired language, MIM# 620012","Wilms tumour predisposition"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+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":["PMK","PMKA","HUMPMKI"],"biotype":"protein_coding","hgnc_id":"HGNC:9141","gene_name":"phosphomevalonate kinase","omim_gene":["607622"],"alias_name":null,"gene_symbol":"PMVK","hgnc_symbol":"PMVK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:154897210-154909467","ensembl_id":"ENSG00000163344"}},"GRch38":{"90":{"location":"1:154924734-154936991","ensembl_id":"ENSG00000163344"}}},"hgnc_date_symbol_changed":"1999-07-09"},"entity_type":"gene","entity_name":"PMVK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26202976","37364720","36410683"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Porokeratosis 1, multiple types, MIM# 175800","Autoinflammatory syndrome, MONDO:0019751, PMVK-related"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":"1.4756","version_created":"2026-04-21T17:26:37.026127+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":["KIAA0479","PNAT2"],"biotype":"protein_coding","hgnc_id":"HGNC:16789","gene_name":"nicotinamide nucleotide adenylyltransferase 2","omim_gene":["608701"],"alias_name":null,"gene_symbol":"NMNAT2","hgnc_symbol":"NMNAT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:183217372-183387737","ensembl_id":"ENSG00000157064"}},"GRch38":{"90":{"location":"1:183248237-183418602","ensembl_id":"ENSG00000157064"}}},"hgnc_date_symbol_changed":"2003-05-02"},"entity_type":"gene","entity_name":"NMNAT2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["31132363","25271157","20126265"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["polyneuropathy","erythromelalgia","Hydrops fetalis and multiple fetal anomalies"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+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":["KIAA0003","Ang1"],"biotype":"protein_coding","hgnc_id":"HGNC:484","gene_name":"angiopoietin 1","omim_gene":["601667"],"alias_name":null,"gene_symbol":"ANGPT1","hgnc_symbol":"ANGPT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:108261721-108510283","ensembl_id":"ENSG00000154188"}},"GRch38":{"90":{"location":"8:107249482-107498055","ensembl_id":"ENSG00000154188"}}},"hgnc_date_symbol_changed":"1997-04-10"},"entity_type":"gene","entity_name":"ANGPT1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["28601681","24852101","30689269","10617467","8980224"],"evidence":["Expert Review Amber","Other"],"phenotypes":["Hereditary angioedema-5 (HAE5), MIM#619361"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+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":["SWIP"],"biotype":"protein_coding","hgnc_id":"HGNC:29174","gene_name":"WASH complex subunit 4","omim_gene":["615748"],"alias_name":["strumpellin and WASH-interacting protein"],"gene_symbol":"WASHC4","hgnc_symbol":"WASHC4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:105501102-105562912","ensembl_id":"ENSG00000136051"}},"GRch38":{"90":{"location":"12:105107324-105169134","ensembl_id":"ENSG00000136051"}}},"hgnc_date_symbol_changed":"2016-10-14"},"entity_type":"gene","entity_name":"WASHC4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31953988","21498477"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder, autosomal recessive 43\tMIM#615817"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+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":["FLJ10415","ZNF744"],"biotype":"protein_coding","hgnc_id":"HGNC:25527","gene_name":"ankyrin repeat and zinc finger domain containing 1","omim_gene":["617541"],"alias_name":null,"gene_symbol":"ANKZF1","hgnc_symbol":"ANKZF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:220094479-220101391","ensembl_id":"ENSG00000163516"}},"GRch38":{"90":{"location":"2:219229757-219236669","ensembl_id":"ENSG00000163516"}}},"hgnc_date_symbol_changed":"2006-02-22"},"entity_type":"gene","entity_name":"ANKZF1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["28302725"],"evidence":["Expert Review Amber","Other"],"phenotypes":["Infantile-onset inflammatory bowel disease, MONDO:0005265, ANKZF1-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":"1.4756","version_created":"2026-04-21T17:26:37.026127+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":["URP","UNCL","GMH1"],"biotype":"protein_coding","hgnc_id":"HGNC:16046","gene_name":"unc-50 inner nuclear membrane RNA binding protein","omim_gene":null,"alias_name":null,"gene_symbol":"UNC50","hgnc_symbol":"UNC50","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:99225042-99234978","ensembl_id":"ENSG00000115446"}},"GRch38":{"90":{"location":"2:98608579-98618515","ensembl_id":"ENSG00000115446"}}},"hgnc_date_symbol_changed":"2004-01-21"},"entity_type":"gene","entity_name":"UNC50","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["29016857","33820833","40219868"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["arthrogryposis multiplex congenita MONDO:0015168","congenital myasthenic syndrome MONDO:0018940"],"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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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":"1.4756","version_created":"2026-04-21T17:26:37.026127+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:3342","gene_name":"engrailed homeobox 1","omim_gene":["131290"],"alias_name":null,"gene_symbol":"EN1","hgnc_symbol":"EN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:119599747-119605254","ensembl_id":"ENSG00000163064"}},"GRch38":{"90":{"location":"2:118842171-118847678","ensembl_id":"ENSG00000163064"}}},"hgnc_date_symbol_changed":"1989-05-08"},"entity_type":"gene","entity_name":"EN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33568816"],"evidence":["Expert Review Green","Literature"],"phenotypes":["ENDOVE syndrome, limb-only type, MIM# 619217","ENDOVE syndrome, limb-brain type, MIM# 619218"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["SV/CNV","5'UTR"],"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":"1.4756","version_created":"2026-04-21T17:26:37.026127+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:16814","gene_name":"dachshund family transcription factor 2","omim_gene":["300608"],"alias_name":null,"gene_symbol":"DACH2","hgnc_symbol":"DACH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:85403462-86087607","ensembl_id":"ENSG00000126733"}},"GRch38":{"90":{"location":"X:86148458-86832604","ensembl_id":"ENSG00000126733"}}},"hgnc_date_symbol_changed":"2001-11-08"},"entity_type":"gene","entity_name":"DACH2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["15459172"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Primary ovarian failure, MONDO:0005387, DACH2-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":"1.4756","version_created":"2026-04-21T17:26:37.026127+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":[]}]}