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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":["GPI3"],"biotype":"protein_coding","hgnc_id":"HGNC:8957","gene_name":"phosphatidylinositol glycan anchor biosynthesis class A","omim_gene":["311770"],"alias_name":["paroxysmal nocturnal hemoglobinuria","phosphatidylinositol N-acetylglucosaminyltransferase"],"gene_symbol":"PIGA","hgnc_symbol":"PIGA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:15337573-15353676","ensembl_id":"ENSG00000165195"}},"GRch38":{"90":{"location":"X:15319451-15335580","ensembl_id":"ENSG00000165195"}}},"hgnc_date_symbol_changed":"1993-10-28"},"entity_type":"gene","entity_name":"PIGA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22305531","24357517","24706016","26545172","33333793","32694024"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466","Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","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":["FLJ20265","GPI7","LAS21"],"biotype":"protein_coding","hgnc_id":"HGNC:25985","gene_name":"phosphatidylinositol glycan anchor biosynthesis class G","omim_gene":["616918"],"alias_name":null,"gene_symbol":"PIGG","hgnc_symbol":"PIGG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:492989-533985","ensembl_id":"ENSG00000174227"}},"GRch38":{"90":{"location":"4:499210-540196","ensembl_id":"ENSG00000174227"}}},"hgnc_date_symbol_changed":"2006-02-08"},"entity_type":"gene","entity_name":"PIGG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26996948"],"evidence":["Expert Review Green","Expert Review","Victorian Clinical Genetics Services"],"phenotypes":["Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy\tMIM#616917"],"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:9006","gene_name":"paired like homeodomain 3","omim_gene":["602669"],"alias_name":null,"gene_symbol":"PITX3","hgnc_symbol":"PITX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:103989943-104001231","ensembl_id":"ENSG00000107859"}},"GRch38":{"90":{"location":"10:102230186-102241474","ensembl_id":"ENSG00000107859"}}},"hgnc_date_symbol_changed":"1998-06-04"},"entity_type":"gene","entity_name":"PITX3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29405783"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250","Cataract 11, multiple types, MIM# 610623","Microphthalmia MONDO:0021129"],"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":["ARPKD","FCYT","FPC"],"biotype":"protein_coding","hgnc_id":"HGNC:9016","gene_name":"PKHD1, fibrocystin/polyductin","omim_gene":["606702"],"alias_name":["tigmin","polyductin","fibrocystin","fibrocystin/polyductin complex"],"gene_symbol":"PKHD1","hgnc_symbol":"PKHD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:51480098-51952423","ensembl_id":"ENSG00000170927"}},"GRch38":{"90":{"location":"6:51615300-52087625","ensembl_id":"ENSG00000170927"}}},"hgnc_date_symbol_changed":"1994-12-15"},"entity_type":"gene","entity_name":"PKHD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28375157","21945273"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200","Nephrocalcinosis, MONDO:0001567, PKHD1-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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