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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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2040","gene_name":"claudin 19","omim_gene":["610036"],"alias_name":null,"gene_symbol":"CLDN19","hgnc_symbol":"CLDN19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:43198764-43205925","ensembl_id":"ENSG00000164007"}},"GRch38":{"90":{"location":"1:42733093-42740254","ensembl_id":"ENSG00000164007"}}},"hgnc_date_symbol_changed":"2000-03-15"},"entity_type":"gene","entity_name":"CLDN19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17033971","22422540","27530400"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2041","gene_name":"claudin 2","omim_gene":["300520"],"alias_name":null,"gene_symbol":"CLDN2","hgnc_symbol":"CLDN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:106143394-106174091","ensembl_id":"ENSG00000165376"}},"GRch38":{"90":{"location":"X:106900164-106930861","ensembl_id":"ENSG00000165376"}}},"hgnc_date_symbol_changed":"1998-11-19"},"entity_type":"gene","entity_name":"CLDN2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29884332","31163246","31320686"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Susceptibility to pancreatitis","Azoospermia, obstructive, with nephrolithiasis, MIM#\t301060"],"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":["XAP121"],"biotype":"protein_coding","hgnc_id":"HGNC:2063","gene_name":"chloride intracellular channel 2","omim_gene":["300138"],"alias_name":null,"gene_symbol":"CLIC2","hgnc_symbol":"CLIC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:154505500-154563966","ensembl_id":"ENSG00000155962"}},"GRch38":{"90":{"location":"X:155276211-155334657","ensembl_id":"ENSG00000155962"}}},"hgnc_date_symbol_changed":"1997-10-17"},"entity_type":"gene","entity_name":"CLIC2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22814392","25927380"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Mental retardation, X-linked, syndromic 32, 300886"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["disputed"],"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":null},{"gene_data":{"alias":["FLJ39417"],"biotype":"protein_coding","hgnc_id":"HGNC:2079","gene_name":"CLN8, transmembrane ER and ERGIC protein","omim_gene":["607837"],"alias_name":null,"gene_symbol":"CLN8","hgnc_symbol":"CLN8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:1703944-1734738","ensembl_id":"ENSG00000182372"}},"GRch38":{"90":{"location":"8:1755778-1801711","ensembl_id":"ENSG00000182372"}}},"hgnc_date_symbol_changed":"1993-12-15"},"entity_type":"gene","entity_name":"CLN8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10508524","15024724","16570191"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 8, MIM# 600143","Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003"],"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":null},{"gene_data":{"alias":["p190","Caspr","CNTNAP"],"biotype":"protein_coding","hgnc_id":"HGNC:8011","gene_name":"contactin associated protein 1","omim_gene":["602346"],"alias_name":["neurexin 4"],"gene_symbol":"CNTNAP1","hgnc_symbol":"CNTNAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40834631-40851832","ensembl_id":"ENSG00000108797"}},"GRch38":{"90":{"location":"17:42682613-42699814","ensembl_id":"ENSG00000108797"}}},"hgnc_date_symbol_changed":"1998-10-14"},"entity_type":"gene","entity_name":"CNTNAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28374019","29511323","27668699"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hypomyelinating neuropathy, congenital, 3, MIM#618186","Lethal congenital contracture syndrome 7, MIM# 616286"],"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":null},{"gene_data":{"alias":["HSPC009","MITRAC12","COX25"],"biotype":"protein_coding","hgnc_id":"HGNC:24990","gene_name":"cytochrome c oxidase assembly factor 3","omim_gene":["614775"],"alias_name":null,"gene_symbol":"COA3","hgnc_symbol":"COA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40947165-40950722","ensembl_id":"ENSG00000183978"}},"GRch38":{"90":{"location":"17:42795147-42798704","ensembl_id":"ENSG00000183978"}}},"hgnc_date_symbol_changed":"2012-08-07"},"entity_type":"gene","entity_name":"COA3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["25604084"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial complex IV deficiency, nuclear type 14, MIM# 619058"],"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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2188","gene_name":"collagen type XII alpha 1 chain","omim_gene":["120320"],"alias_name":["collagen type XII proteoglycan"],"gene_symbol":"COL12A1","hgnc_symbol":"COL12A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:75794042-75915767","ensembl_id":"ENSG00000111799"}},"GRch38":{"90":{"location":"6:75084326-75206051","ensembl_id":"ENSG00000111799"}}},"hgnc_date_symbol_changed":"1992-03-24"},"entity_type":"gene","entity_name":"COL12A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28306229","31273343","24334604"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Myopathic EDS","Bethlem myopathy 2 MIM#616471","Ullrich congenital muscular dystrophy 2 MIM#616470"],"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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2190","gene_name":"collagen type XIII alpha 1 chain","omim_gene":["120350"],"alias_name":null,"gene_symbol":"COL13A1","hgnc_symbol":"COL13A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:71561644-71724031","ensembl_id":"ENSG00000197467"}},"GRch38":{"90":{"location":"10:69801931-69964275","ensembl_id":"ENSG00000197467"}}},"hgnc_date_symbol_changed":"1988-08-05"},"entity_type":"gene","entity_name":"COL13A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31081514","28369367","20844119"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Myasthenic syndrome, congenital, 19 (OMIM #616720)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"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":null},{"gene_data":{"alias":["BP180"],"biotype":"protein_coding","hgnc_id":"HGNC:2194","gene_name":"collagen type XVII alpha 1 chain","omim_gene":["113811"],"alias_name":null,"gene_symbol":"COL17A1","hgnc_symbol":"COL17A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:105791044-105845760","ensembl_id":"ENSG00000065618"}},"GRch38":{"90":{"location":"10:104031286-104086002","ensembl_id":"ENSG00000065618"}}},"hgnc_date_symbol_changed":"1993-09-27"},"entity_type":"gene","entity_name":"COL17A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27309958","29708937","25676728","20301304","37979963"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Epidermolysis bullosa, junctional 4, intermediate MIM#619787","Epithelial recurrent erosion dystrophy MIM#122400","Amelogenesis imperfecta MONDO:0019507, COL17A1-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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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":["OI4"],"biotype":"protein_coding","hgnc_id":"HGNC:2197","gene_name":"collagen type I alpha 1 chain","omim_gene":["120150"],"alias_name":null,"gene_symbol":"COL1A1","hgnc_symbol":"COL1A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:48260650-48278993","ensembl_id":"ENSG00000108821"}},"GRch38":{"90":{"location":"17:50183289-50201632","ensembl_id":"ENSG00000108821"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL1A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301422","20301667","30071989","28981071","12362985","28956891"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Caffey disease MIM#114000","Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 MIM#619115","Ehlers-Danlos syndrome, arthrochalasia type, 1 MIM#130060","Osteogenesis imperfecta, type I MIM#166200","Osteogenesis imperfecta, type II MIM#166210","Osteogenesis imperfecta, type III MIM#259420","Osteogenesis imperfecta, type IV MIM#166220"],"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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2204","gene_name":"collagen type IV alpha 3 chain","omim_gene":["120070"],"alias_name":["tumstatin"],"gene_symbol":"COL4A3","hgnc_symbol":"COL4A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:228029281-228179508","ensembl_id":"ENSG00000169031"}},"GRch38":{"90":{"location":"2:227164565-227314792","ensembl_id":"ENSG00000169031"}}},"hgnc_date_symbol_changed":"1991-09-12"},"entity_type":"gene","entity_name":"COL4A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Alport syndrome 2, autosomal recessive, MIM# 203780","Alport syndrome 3, autosomal dominant, MIM# 104200"],"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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