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Facial dysostoses arise as a consequence of abnormal development of the first and second pharyngeal arches and their derivatives, including the upper and lower jaw and their hyoid support structures.","status":"public","version":"1.22","version_created":"2026-03-25T17:21:58.910310+11:00","relevant_disorders":["Craniofacial dysostosis","HP:0004439"],"stats":{"number_of_genes":35,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PKCI"],"biotype":"protein_coding","hgnc_id":"HGNC:9404","gene_name":"protein kinase C iota","omim_gene":["600539"],"alias_name":null,"gene_symbol":"PRKCI","hgnc_symbol":"PRKCI","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:169940153-170023769","ensembl_id":"ENSG00000163558"}},"GRch38":{"90":{"location":"3:170222365-170305981","ensembl_id":"ENSG00000163558"}}},"hgnc_date_symbol_changed":"1994-07-06"},"entity_type":"gene","entity_name":"PRKCI","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40902599"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Van der Woude syndrome MONDO:0019508, PRKCI-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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4066","gene_name":"GRB2 associated binding protein 1","omim_gene":["604439"],"alias_name":null,"gene_symbol":"GAB1","hgnc_symbol":"GAB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:144257915-144395721","ensembl_id":"ENSG00000109458"}},"GRch38":{"90":{"location":"4:143336762-143474568","ensembl_id":"ENSG00000109458"}}},"hgnc_date_symbol_changed":"1996-12-18"},"entity_type":"gene","entity_name":"GAB1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["29408807"],"evidence":["Literature"],"phenotypes":["hearing loss, autosomal recessive MONDO:0019588"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["hTIM","TIM","TIM1"],"biotype":"protein_coding","hgnc_id":"HGNC:11813","gene_name":"timeless circadian regulator","omim_gene":["603887"],"alias_name":["Tof1 homolog (S. cerevisiae)","timeless circadian clock 1"],"gene_symbol":"TIMELESS","hgnc_symbol":"TIMELESS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:56810903-56843187","ensembl_id":"ENSG00000111602"}},"GRch38":{"90":{"location":"12:56416373-56449403","ensembl_id":"ENSG00000111602"}}},"hgnc_date_symbol_changed":"1999-01-08"},"entity_type":"gene","entity_name":"TIMELESS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["31138685"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Advance sleep phase syndrome MONDO:0015609"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["L21","FLJ27458","MGC71252","MGC104274","MGC104275","DKFZp686C06101"],"biotype":"protein_coding","hgnc_id":"HGNC:10313","gene_name":"ribosomal protein L21","omim_gene":["603636"],"alias_name":["60S ribosomal protein L21"],"gene_symbol":"RPL21","hgnc_symbol":"RPL21","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:27825446-27830828","ensembl_id":"ENSG00000122026"}},"GRch38":{"90":{"location":"13:27251309-27256691","ensembl_id":"ENSG00000122026"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"RPL21","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["21412954"],"evidence":["NHS GMS","Expert Review Red","Expert Review Red","NHS GMS"],"phenotypes":["Hypotrichosis 12 MIM#615885"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["V8","EWI-3","MGC117164"],"biotype":"protein_coding","hgnc_id":"HGNC:5950","gene_name":"immunoglobulin superfamily member 3","omim_gene":["603491"],"alias_name":null,"gene_symbol":"IGSF3","hgnc_symbol":"IGSF3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:117117031-117210375","ensembl_id":"ENSG00000143061"}},"GRch38":{"90":{"location":"1:116574399-116667755","ensembl_id":"ENSG00000143061"}}},"hgnc_date_symbol_changed":"1998-08-13"},"entity_type":"gene","entity_name":"IGSF3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["24372406"],"evidence":["Literature"],"phenotypes":["familial congenital nasolacrimal duct obstruction MONDO:0007871"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8847","gene_name":"period circadian regulator 3","omim_gene":["603427"],"alias_name":null,"gene_symbol":"PER3","hgnc_symbol":"PER3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:7844380-7905237","ensembl_id":"ENSG00000049246"}},"GRch38":{"90":{"location":"1:7784320-7845177","ensembl_id":"ENSG00000049246"}}},"hgnc_date_symbol_changed":"1999-06-11"},"entity_type":"gene","entity_name":"PER3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["26903630"],"evidence":["Literature"],"phenotypes":["advanced sleep phase syndrome MONDO:0015609"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ30508","MGC23909"],"biotype":"protein_coding","hgnc_id":"HGNC:28330","gene_name":"transmembrane protein 167A","omim_gene":null,"alias_name":null,"gene_symbol":"TMEM167A","hgnc_symbol":"TMEM167A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:82348665-82373682","ensembl_id":"ENSG00000174695"}},"GRch38":{"90":{"location":"5:83052846-83077863","ensembl_id":"ENSG00000174695"}}},"hgnc_date_symbol_changed":"2008-06-06"},"entity_type":"gene","entity_name":"TMEM167A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 40924476"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Microcephaly, epilepsy, and diabetes syndrome MONDO:0100328, TMEM167A-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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Hcam3"],"biotype":"protein_coding","hgnc_id":"HGNC:8776","gene_name":"phosphodiesterase 1C","omim_gene":["602987"],"alias_name":null,"gene_symbol":"PDE1C","hgnc_symbol":"PDE1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:31790793-32338941","ensembl_id":"ENSG00000154678"}},"GRch38":{"90":{"location":"7:31751179-32299329","ensembl_id":"ENSG00000154678"}}},"hgnc_date_symbol_changed":"1994-07-29"},"entity_type":"gene","entity_name":"PDE1C","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["29860631"],"evidence":["Literature"],"phenotypes":["autosomal dominant nonsyndromic hearing loss MONDO:0019587"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PI4K-BETA","pi4K92"],"biotype":"protein_coding","hgnc_id":"HGNC:8984","gene_name":"phosphatidylinositol 4-kinase beta","omim_gene":["602758"],"alias_name":null,"gene_symbol":"PI4KB","hgnc_symbol":"PI4KB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:151264273-151300191","ensembl_id":"ENSG00000143393"}},"GRch38":{"90":{"location":"1:151291797-151327715","ensembl_id":"ENSG00000143393"}}},"hgnc_date_symbol_changed":"2007-08-02"},"entity_type":"gene","entity_name":"PI4KB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33358777"],"evidence":["Expert Review Green","Literature"],"phenotypes":["hearing loss, autosomal dominant 87 MONDO:0859525"],"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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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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CEN3"],"biotype":"protein_coding","hgnc_id":"HGNC:1868","gene_name":"centrin 3","omim_gene":["602907"],"alias_name":["CDC31 yeast homolog","EF-hand superfamily member"],"gene_symbol":"CETN3","hgnc_symbol":"CETN3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:89688078-89705603","ensembl_id":"ENSG00000153140"}},"GRch38":{"90":{"location":"5:90392261-90409786","ensembl_id":"ENSG00000153140"}}},"hgnc_date_symbol_changed":"1997-08-22"},"entity_type":"gene","entity_name":"CETN3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40926052"],"evidence":["Expert Review Red","Literature"],"phenotypes":["microcephaly, MONDO:0001149, CETN3-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ALC1","AMLC","GT1","PRO1957"],"biotype":"protein_coding","hgnc_id":"HGNC:7585","gene_name":"myosin light chain 4","omim_gene":["160770"],"alias_name":["myosin, atrial/fetal muscle, light chain"],"gene_symbol":"MYL4","hgnc_symbol":"MYL4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:45277812-45301045","ensembl_id":"ENSG00000198336"}},"GRch38":{"90":{"location":"17:47200446-47223679","ensembl_id":"ENSG00000198336"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"MYL4","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["27742809","27066836","29080865"],"evidence":["Literature","Expert Review Amber","Expert Review Amber","Literature"],"phenotypes":["atrial fibrillation, familial, 18 MONDO:0015001"],"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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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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RDHL","3alpha-HSD","RETSDR8","RDH15","SDR9C4"],"biotype":"protein_coding","hgnc_id":"HGNC:16888","gene_name":"dehydrogenase/reductase 9","omim_gene":["612131"],"alias_name":["NADP-dependent retinol dehydrogenase/reductase","3-alpha hydroxysteroid dehydrogenase","retinol dehydrogenase homolog","short chain dehydrogenase/reductase family 9C, member 4"],"gene_symbol":"DHRS9","hgnc_symbol":"DHRS9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:169921299-169952677","ensembl_id":"ENSG00000073737"}},"GRch38":{"90":{"location":"2:169064789-169096167","ensembl_id":"ENSG00000073737"}}},"hgnc_date_symbol_changed":"2003-12-02"},"entity_type":"gene","entity_name":"DHRS9","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["40945732","32752300","38256219"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Genetic epilepsy, MONDO:0100575, DHRS9"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]}]}