{"count":35518,"next":"https://panelapp-aus.org/api/v1/genes/?format=json&page=306","previous":"https://panelapp-aus.org/api/v1/genes/?format=json&page=304","results":[{"gene_data":{"alias":["FLJ14466","CRACM1"],"biotype":null,"hgnc_id":"HGNC:25896","gene_name":"ORAI calcium release-activated calcium modulator 1","omim_gene":["610277"],"alias_name":["calcium release-activated calcium modulator 1"],"gene_symbol":"ORAI1","hgnc_symbol":"ORAI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:122064455-122080583","ensembl_id":"ENSG00000182500"}},"GRch38":{"90":{"location":"12:121626550-121642677","ensembl_id":"ENSG00000276045"}}},"hgnc_date_symbol_changed":"2007-08-14"},"entity_type":"gene","entity_name":"ORAI1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31448844","38982518"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Immunodeficiency 9, MIM#612782"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSORC1","PARC1"],"biotype":"protein_coding","hgnc_id":"HGNC:8487","gene_name":"origin recognition complex subunit 1","omim_gene":["601902"],"alias_name":["origin recognition complex, subunit 1, S. cerevisiae, homolog-like","origin recognition complex 1","replication control protein 1"],"gene_symbol":"ORC1","hgnc_symbol":"ORC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:52838501-52870131","ensembl_id":"ENSG00000085840"}},"GRch38":{"90":{"location":"1:52372829-52404459","ensembl_id":"ENSG00000085840"}}},"hgnc_date_symbol_changed":"2010-10-12"},"entity_type":"gene","entity_name":"ORC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21358633","21358632","21358631","23023959"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Meier-Gorlin syndrome 1, 224690 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:17151","gene_name":"origin recognition complex subunit 6","omim_gene":["607213"],"alias_name":null,"gene_symbol":"ORC6","hgnc_symbol":"ORC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:46723555-46732306","ensembl_id":"ENSG00000091651"}},"GRch38":{"90":{"location":"16:46689643-46698394","ensembl_id":"ENSG00000091651"}}},"hgnc_date_symbol_changed":"2010-10-12"},"entity_type":"gene","entity_name":"ORC6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21358632","22333897","25691413","26139588"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Meier-Gorlin syndrome 3 MIM#613803"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PRSMG1","GCPL1","OSGEP1","KAE1","TCS3"],"biotype":"protein_coding","hgnc_id":"HGNC:18028","gene_name":"O-sialoglycoprotein endopeptidase","omim_gene":["610107"],"alias_name":null,"gene_symbol":"OSGEP","hgnc_symbol":"OSGEP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:20914570-20923264","ensembl_id":"ENSG00000092094"}},"GRch38":{"90":{"location":"14:20446411-20455105","ensembl_id":"ENSG00000092094"}}},"hgnc_date_symbol_changed":"2002-01-23"},"entity_type":"gene","entity_name":"OSGEP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28805828","28272532"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Galloway-Mowat syndrome 3, MIM# 617729"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSPC019","GL"],"biotype":"protein_coding","hgnc_id":"HGNC:21652","gene_name":"osteopetrosis associated transmembrane protein 1","omim_gene":["607649"],"alias_name":["CLCN7 accessory beta subunit"],"gene_symbol":"OSTM1","hgnc_symbol":"OSTM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:108362613-108487058","ensembl_id":"ENSG00000081087"}},"GRch38":{"90":{"location":"6:108041409-108165854","ensembl_id":"ENSG00000081087"}}},"hgnc_date_symbol_changed":"2003-10-06"},"entity_type":"gene","entity_name":"OSTM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12627228","15108279","16813530","23772242","32048120"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Osteopetrosis, autosomal recessive 5, MIM#259720"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8512","gene_name":"ornithine carbamoyltransferase","omim_gene":["300461"],"alias_name":null,"gene_symbol":"OTC","hgnc_symbol":"OTC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:38211798-38280703","ensembl_id":"ENSG00000036473"}},"GRch38":{"90":{"location":"X:38352545-38421450","ensembl_id":"ENSG00000036473"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"OTC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26059767","31441224","25135652"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ornithine transcarbamylase deficiency, MIM# 311250"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CGI-77","DUBA5"],"biotype":"protein_coding","hgnc_id":"HGNC:24281","gene_name":"OTU domain containing 6B","omim_gene":["612021"],"alias_name":null,"gene_symbol":"OTUD6B","hgnc_symbol":"OTUD6B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:92082424-92099323","ensembl_id":"ENSG00000155100"}},"GRch38":{"90":{"location":"8:91070196-91087095","ensembl_id":"ENSG00000155100"}}},"hgnc_date_symbol_changed":"2005-09-28"},"entity_type":"gene","entity_name":"OTUD6B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28343629","32924626","31147255"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies,MIM#617452"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GROS1","LEPRECAN","MGC117314"],"biotype":"protein_coding","hgnc_id":"HGNC:19316","gene_name":"prolyl 3-hydroxylase 1","omim_gene":["610339"],"alias_name":["growth suppressor 1","procollagen-proline 3-dioxygenase"],"gene_symbol":"P3H1","hgnc_symbol":"P3H1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:43212006-43232755","ensembl_id":"ENSG00000117385"}},"GRch38":{"90":{"location":"1:42746335-42767084","ensembl_id":"ENSG00000117385"}}},"hgnc_date_symbol_changed":"2014-12-12"},"entity_type":"gene","entity_name":"P3H1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17277775","19088120","27864101","33737016","18566967"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Osteogenesis imperfecta, type VIII, MIM#610915"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PH"],"biotype":"protein_coding","hgnc_id":"HGNC:8582","gene_name":"phenylalanine hydroxylase","omim_gene":["612349"],"alias_name":["phenylalanine 4-monooxygenase"],"gene_symbol":"PAH","hgnc_symbol":"PAH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:103230663-103352188","ensembl_id":"ENSG00000171759"}},"GRch38":{"90":{"location":"12:102836885-102958410","ensembl_id":"ENSG00000171759"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308","3008810","31636599","32141105"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Phenylketonuria, MIM#261600"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hPAK3","bPAK"],"biotype":"protein_coding","hgnc_id":"HGNC:8592","gene_name":"p21 (RAC1) activated kinase 3","omim_gene":["300142"],"alias_name":null,"gene_symbol":"PAK3","hgnc_symbol":"PAK3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:110187513-110470589","ensembl_id":"ENSG00000077264"}},"GRch38":{"90":{"location":"X:110944285-111227361","ensembl_id":"ENSG00000077264"}}},"hgnc_date_symbol_changed":"1998-03-25"},"entity_type":"gene","entity_name":"PAK3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9731525","10946356","12884430","17853471","18523455","24556213","25666757","27753653","28481730","28126652"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Intellectual developmental disorder, X-linked 30 MIM#300558"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSS","FLJ11729","PKAN","HARP"],"biotype":"protein_coding","hgnc_id":"HGNC:15894","gene_name":"pantothenate kinase 2","omim_gene":["606157"],"alias_name":["Hallervorden-Spatz syndrome"],"gene_symbol":"PANK2","hgnc_symbol":"PANK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:3869486-3907605","ensembl_id":"ENSG00000125779"}},"GRch38":{"90":{"location":"20:3888839-3929882","ensembl_id":"ENSG00000125779"}}},"hgnc_date_symbol_changed":"2002-09-06"},"entity_type":"gene","entity_name":"PANK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15911822"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Neurodegeneration with brain iron accumulation 1, MIM#234200"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ATPSK2"],"biotype":"protein_coding","hgnc_id":"HGNC:8604","gene_name":"3'-phosphoadenosine 5'-phosphosulfate synthase 2","omim_gene":["603005"],"alias_name":["sulfate adenylyltransferase","adenylyl-sulfate kinase","adenosine 5'-phosphosulfate kinase","bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2"],"gene_symbol":"PAPSS2","hgnc_symbol":"PAPSS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:89419370-89507462","ensembl_id":"ENSG00000198682"}},"GRch38":{"90":{"location":"10:87659613-87747705","ensembl_id":"ENSG00000198682"}}},"hgnc_date_symbol_changed":"1999-01-29"},"entity_type":"gene","entity_name":"PAPSS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22791835","25594860","31461705","23633440"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Brachyolmia 4 with mild epiphyseal and metaphyseal changes, MIM#612847"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PCB"],"biotype":"protein_coding","hgnc_id":"HGNC:8636","gene_name":"pyruvate carboxylase","omim_gene":["608786"],"alias_name":null,"gene_symbol":"PC","hgnc_symbol":"PC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:66615704-66725847","ensembl_id":"ENSG00000173599"}},"GRch38":{"90":{"location":"11:66848233-66958376","ensembl_id":"ENSG00000173599"}}},"hgnc_date_symbol_changed":"1991-09-13"},"entity_type":"gene","entity_name":"PC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9585612","12112657","20301764"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Pyruvate carboxylase deficiency (MIM#266150)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8653","gene_name":"propionyl-CoA carboxylase alpha subunit","omim_gene":["232000"],"alias_name":null,"gene_symbol":"PCCA","hgnc_symbol":"PCCA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:100741269-101182686","ensembl_id":"ENSG00000175198"}},"GRch38":{"90":{"location":"13:100089015-100530437","ensembl_id":"ENSG00000175198"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PCCA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17966092","10101253","9887338"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Propionicacidemia, MIM#606054"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8654","gene_name":"propionyl-CoA carboxylase beta subunit","omim_gene":["232050"],"alias_name":null,"gene_symbol":"PCCB","hgnc_symbol":"PCCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:135969148-136056738","ensembl_id":"ENSG00000114054"}},"GRch38":{"90":{"location":"3:136250306-136337896","ensembl_id":"ENSG00000114054"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PCCB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7386459","9683601","10502773","35296328"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Propionicacidemia MIM#606054","propionic acidemia MONDO:0011628"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["VE-cadherin-2"],"biotype":"protein_coding","hgnc_id":"HGNC:8657","gene_name":"protocadherin 12","omim_gene":["605622"],"alias_name":null,"gene_symbol":"PCDH12","hgnc_symbol":"PCDH12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:141323150-141349304","ensembl_id":"ENSG00000113555"}},"GRch38":{"90":{"location":"5:141943585-141969741","ensembl_id":"ENSG00000113555"}}},"hgnc_date_symbol_changed":"2000-06-28"},"entity_type":"gene","entity_name":"PCDH12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27164683","30178464"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Diencephalic-mesencephalic junction dysplasia syndrome 1 (MIM# 251280)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CDHR15"],"biotype":"protein_coding","hgnc_id":"HGNC:14674","gene_name":"protocadherin related 15","omim_gene":["605514"],"alias_name":["cadherin-related family member 15"],"gene_symbol":"PCDH15","hgnc_symbol":"PCDH15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:55562531-57387702","ensembl_id":"ENSG00000150275"}},"GRch38":{"90":{"location":"10:53802771-55627942","ensembl_id":"ENSG00000150275"}}},"hgnc_date_symbol_changed":"2001-02-27"},"entity_type":"gene","entity_name":"PCDH15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11398101","11487575","11138007","12782354","16260500","14570705","25930172","28281779"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Usher syndrome, type 1F, MIM# 602083"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KEN","KIAA0402","PCN","PCNTB","SCKL4"],"biotype":"protein_coding","hgnc_id":"HGNC:16068","gene_name":"pericentrin","omim_gene":["605925"],"alias_name":["kendrin","Seckel syndrome 4"],"gene_symbol":"PCNT","hgnc_symbol":"PCNT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:47744036-47865682","ensembl_id":"ENSG00000160299"}},"GRch38":{"90":{"location":"21:46324122-46445769","ensembl_id":"ENSG00000160299"}}},"hgnc_date_symbol_changed":"2005-11-03"},"entity_type":"gene","entity_name":"PCNT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18174396","12210304","30922925","33460028","32557621","32267100"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720","MONDO:0008872"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PC1","PC3","SPC3"],"biotype":"protein_coding","hgnc_id":"HGNC:8743","gene_name":"proprotein convertase subtilisin/kexin type 1","omim_gene":["162150"],"alias_name":["prohormone convertase 3","prohormone convertase 1","neuroendocrine convertase 1","proprotein convertase 1"],"gene_symbol":"PCSK1","hgnc_symbol":"PCSK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:95726119-95769847","ensembl_id":"ENSG00000175426"}},"GRch38":{"90":{"location":"5:96390415-96434143","ensembl_id":"ENSG00000175426"}}},"hgnc_date_symbol_changed":"1991-06-07"},"entity_type":"gene","entity_name":"PCSK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14617756","17595246","27187081","27288825","23562752"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Endocrinopathy due to proprotein convertase 1/3 deficiency,MIM#600955"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CT","CTPCT"],"biotype":"protein_coding","hgnc_id":"HGNC:8754","gene_name":"phosphate cytidylyltransferase 1, choline, alpha","omim_gene":["123695"],"alias_name":["phosphate cytidylyltransferase 1, choline, alpha isoform"],"gene_symbol":"PCYT1A","hgnc_symbol":"PCYT1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:195941093-196014828","ensembl_id":"ENSG00000161217"}},"GRch38":{"90":{"location":"3:196214222-196287957","ensembl_id":"ENSG00000161217"}}},"hgnc_date_symbol_changed":"1999-05-05"},"entity_type":"gene","entity_name":"PCYT1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28272537","24387990","24387991","24889630"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Spondylometaphyseal dysplasia with cone-rod dystrophy MIM#608940"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PDEA2","ACHM5","COD4"],"biotype":"protein_coding","hgnc_id":"HGNC:8787","gene_name":"phosphodiesterase 6C","omim_gene":["600827"],"alias_name":null,"gene_symbol":"PDE6C","hgnc_symbol":"PDE6C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:95372345-95425767","ensembl_id":"ENSG00000095464"}},"GRch38":{"90":{"location":"10:93612588-93666010","ensembl_id":"ENSG00000095464"}}},"hgnc_date_symbol_changed":"1995-07-13"},"entity_type":"gene","entity_name":"PDE6C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33001157","34720973"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Cone dystrophy 4, 613093 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8806","gene_name":"pyruvate dehydrogenase E1 alpha 1 subunit","omim_gene":["300502"],"alias_name":["pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial"],"gene_symbol":"PDHA1","hgnc_symbol":"PDHA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:19362011-19379823","ensembl_id":"ENSG00000131828"}},"GRch38":{"90":{"location":"X:19343893-19361705","ensembl_id":"ENSG00000131828"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"PDHA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22142326","28584645"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PDHE1B"],"biotype":"protein_coding","hgnc_id":"HGNC:8808","gene_name":"pyruvate dehydrogenase E1 beta subunit","omim_gene":["179060"],"alias_name":null,"gene_symbol":"PDHB","hgnc_symbol":"PDHB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:58413357-58419584","ensembl_id":"ENSG00000168291"}},"GRch38":{"90":{"location":"3:58427630-58433857","ensembl_id":"ENSG00000168291"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"PDHB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15138885","18164639","26865159","19924563","34138529"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Pyruvate dehydrogenase E1-beta deficiency, MIM#614111"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PDP","PDH","PPM2A"],"biotype":"protein_coding","hgnc_id":"HGNC:9279","gene_name":"pyruvate dehyrogenase phosphatase catalytic subunit 1","omim_gene":["605993"],"alias_name":["protein phosphatase, Mg2+/Mn2+ dependent 2A"],"gene_symbol":"PDP1","hgnc_symbol":"PDP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:94870035-94938294","ensembl_id":"ENSG00000164951"}},"GRch38":{"90":{"location":"8:93857807-93926066","ensembl_id":"ENSG00000164951"}}},"hgnc_date_symbol_changed":"2009-06-12"},"entity_type":"gene","entity_name":"PDP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15855260","31392110","19184109"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Pyruvate dehydrogenase phosphatase deficiency,MIM#608782"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8840","gene_name":"peptidase D","omim_gene":["613230"],"alias_name":["prolidase"],"gene_symbol":"PEPD","hgnc_symbol":"PEPD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:33877856-34012700","ensembl_id":"ENSG00000124299"}},"GRch38":{"90":{"location":"19:33386950-33521794","ensembl_id":"ENSG00000124299"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PEPD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32455636","19308961","3827281","36757671","16470701"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Prolidase deficiency, MIM# 170100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:40038","gene_name":"PET100 homolog","omim_gene":["614770"],"alias_name":null,"gene_symbol":"PET100","hgnc_symbol":"PET100","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:7694623-7696842","ensembl_id":"ENSG00000229833"}},"GRch38":{"90":{"location":"19:7629737-7631956","ensembl_id":"ENSG00000229833"}}},"hgnc_date_symbol_changed":"2012-06-25"},"entity_type":"gene","entity_name":"PET100","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8850","gene_name":"peroxisomal biogenesis factor 1","omim_gene":["602136"],"alias_name":null,"gene_symbol":"PEX1","hgnc_symbol":"PEX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92116334-92157845","ensembl_id":"ENSG00000127980"}},"GRch38":{"90":{"location":"7:92487020-92528531","ensembl_id":"ENSG00000127980"}}},"hgnc_date_symbol_changed":"1998-01-08"},"entity_type":"gene","entity_name":"PEX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301621","9398847","17055079"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Peroxisome biogenesis disorder 1A (Zellweger), MIM#214100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNF69"],"biotype":"protein_coding","hgnc_id":"HGNC:8851","gene_name":"peroxisomal biogenesis factor 10","omim_gene":["602859"],"alias_name":null,"gene_symbol":"PEX10","hgnc_symbol":"PEX10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:2336236-2345236","ensembl_id":"ENSG00000157911"}},"GRch38":{"90":{"location":"1:2403964-2413797","ensembl_id":"ENSG00000157911"}}},"hgnc_date_symbol_changed":"1998-08-05"},"entity_type":"gene","entity_name":"PEX10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10862081","21031596","30640048"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870","Peroxisome biogenesis disorder 6B MIM#614871"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8853","gene_name":"peroxisomal biogenesis factor 11 beta","omim_gene":["603867"],"alias_name":null,"gene_symbol":"PEX11B","hgnc_symbol":"PEX11B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:145516252-145523730","ensembl_id":"ENSG00000131779"}},"GRch38":{"90":{"location":"1:145911350-145918837","ensembl_id":"ENSG00000131779"}}},"hgnc_date_symbol_changed":"1998-11-11"},"entity_type":"gene","entity_name":"PEX11B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301621","22581968","31724321","38423277","39092477","28129423","33558817"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Peroxisome biogenesis disorder 14B MIM#614920"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8854","gene_name":"peroxisomal biogenesis factor 12","omim_gene":["601758"],"alias_name":null,"gene_symbol":"PEX12","hgnc_symbol":"PEX12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:33901814-33905882","ensembl_id":"ENSG00000108733"}},"GRch38":{"90":{"location":"17:35574795-35578863","ensembl_id":"ENSG00000108733"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PEX12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Peroxisome biogenesis disorder 3A (Zellweger), MIM#614859","Peroxisome biogenesis disorder 3B, MIM#266510"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8855","gene_name":"peroxisomal biogenesis factor 13","omim_gene":["601789"],"alias_name":null,"gene_symbol":"PEX13","hgnc_symbol":"PEX13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:61244360-61279125","ensembl_id":"ENSG00000162928"}},"GRch38":{"90":{"location":"2:61017225-61051990","ensembl_id":"ENSG00000162928"}}},"hgnc_date_symbol_changed":"1997-06-24"},"entity_type":"gene","entity_name":"PEX13","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Peroxisome biogenesis disorder 11A (Zellweger), MIM#614883","Peroxisome biogenesis disorder 11B, MIM#614885"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8857","gene_name":"peroxisomal biogenesis factor 16","omim_gene":["603360"],"alias_name":null,"gene_symbol":"PEX16","hgnc_symbol":"PEX16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:45931220-45940363","ensembl_id":"ENSG00000121680"}},"GRch38":{"90":{"location":"11:45909669-45918812","ensembl_id":"ENSG00000121680"}}},"hgnc_date_symbol_changed":"1999-04-07"},"entity_type":"gene","entity_name":"PEX16","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11890679","9837814","20647552","20301621","30078639"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876","Peroxisome biogenesis disorder 8B MIM#614877"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PMP35","PAF-1","RNF72","ZWS3"],"biotype":"protein_coding","hgnc_id":"HGNC:9717","gene_name":"peroxisomal biogenesis factor 2","omim_gene":["170993"],"alias_name":["Zellweger syndrome","peroxin 2"],"gene_symbol":"PEX2","hgnc_symbol":"PEX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:77892494-77913280","ensembl_id":"ENSG00000164751"}},"GRch38":{"90":{"location":"8:76980258-77001044","ensembl_id":"ENSG00000164751"}}},"hgnc_date_symbol_changed":"2010-01-25"},"entity_type":"gene","entity_name":"PEX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14630978","10528859","23430938","1546315"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866","Peroxisome biogenesis disorder 5B, MIM#614867"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20695"],"biotype":"protein_coding","hgnc_id":"HGNC:22965","gene_name":"peroxisomal biogenesis factor 26","omim_gene":["608666"],"alias_name":null,"gene_symbol":"PEX26","hgnc_symbol":"PEX26","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:18560689-18613905","ensembl_id":"ENSG00000215193"}},"GRch38":{"90":{"location":"22:18077920-18131138","ensembl_id":"ENSG00000215193"}}},"hgnc_date_symbol_changed":"2003-08-05"},"entity_type":"gene","entity_name":"PEX26","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12717447","15858711","17336976"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872, MONDO:0013938","Peroxisome biogenesis disorder 7B - MIM#614873, MONDO:0013939"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8858","gene_name":"peroxisomal biogenesis factor 3","omim_gene":["603164"],"alias_name":null,"gene_symbol":"PEX3","hgnc_symbol":"PEX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:143771944-143811147","ensembl_id":"ENSG00000034693"}},"GRch38":{"90":{"location":"6:143450807-143490010","ensembl_id":"ENSG00000034693"}}},"hgnc_date_symbol_changed":"1998-10-21"},"entity_type":"gene","entity_name":"PEX3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301621"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Peroxisome biogenesis disorder 10A (Zellweger) MIM#614882","Peroxisome biogenesis disorder 10B MIM#617370","Peroxisome biogenesis disorder due to PEX3 defect MONDO:0100261"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PTS1R"],"biotype":"protein_coding","hgnc_id":"HGNC:9719","gene_name":"peroxisomal biogenesis factor 5","omim_gene":["600414"],"alias_name":["peroxisomal targeting signal 1 receptor","peroxisomal import receptor 5"],"gene_symbol":"PEX5","hgnc_symbol":"PEX5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:7341281-7371170","ensembl_id":"ENSG00000139197"}},"GRch38":{"90":{"location":"12:7188685-7218574","ensembl_id":"ENSG00000139197"}}},"hgnc_date_symbol_changed":"2004-03-19"},"entity_type":"gene","entity_name":"PEX5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21031596","7719337","26220973","20301621"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Peroxisome Biogenesis Disorder, MONDO:0019234"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PXAAA1","PAF-2"],"biotype":"protein_coding","hgnc_id":"HGNC:8859","gene_name":"peroxisomal biogenesis factor 6","omim_gene":["601498"],"alias_name":null,"gene_symbol":"PEX6","hgnc_symbol":"PEX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:42931608-42946958","ensembl_id":"ENSG00000124587"}},"GRch38":{"90":{"location":"6:42963870-42979220","ensembl_id":"ENSG00000124587"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PEX6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8940266","22894767"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862","Peroxisome biogenesis disorder-4B, MIM# 614863"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PTS2R","RD"],"biotype":"protein_coding","hgnc_id":"HGNC:8860","gene_name":"peroxisomal biogenesis factor 7","omim_gene":["601757"],"alias_name":["Refsum disease"],"gene_symbol":"PEX7","hgnc_symbol":"PEX7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:137143717-137235075","ensembl_id":"ENSG00000112357"}},"GRch38":{"90":{"location":"6:136822564-136913937","ensembl_id":"ENSG00000112357"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PEX7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11781871","12522768","12325024"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Peroxisome biogenesis disorder 9B, MIM# 614879","Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PFK-1","PPP1R122"],"biotype":"protein_coding","hgnc_id":"HGNC:8877","gene_name":"phosphofructokinase, muscle","omim_gene":["610681"],"alias_name":["protein phosphatase 1, regulatory subunit 122"],"gene_symbol":"PFKM","hgnc_symbol":"PFKM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:48498922-48540187","ensembl_id":"ENSG00000152556"}},"GRch38":{"90":{"location":"12:48105139-48146404","ensembl_id":"ENSG00000152556"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PFKM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22364848"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Glycogen storage disease VII MIM#232800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ12377","Bst1","SPG67"],"biotype":"protein_coding","hgnc_id":"HGNC:25712","gene_name":"post-GPI attachment to proteins 1","omim_gene":["611655"],"alias_name":["GPI inositol-deacylase"],"gene_symbol":"PGAP1","hgnc_symbol":"PGAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:197697728-197792520","ensembl_id":"ENSG00000197121"}},"GRch38":{"90":{"location":"2:196833004-196927796","ensembl_id":"ENSG00000197121"}}},"hgnc_date_symbol_changed":"2008-02-26"},"entity_type":"gene","entity_name":"PGAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24482476","24784135","25823418","25804403","26050939"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FRAG1","CWH43-N"],"biotype":"protein_coding","hgnc_id":"HGNC:17893","gene_name":"post-GPI attachment to proteins 2","omim_gene":["615187"],"alias_name":["FGF receptor activating protein 1","cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"],"gene_symbol":"PGAP2","hgnc_symbol":"PGAP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:3818954-3847601","ensembl_id":"ENSG00000148985"}},"GRch38":{"90":{"location":"11:3797724-3826371","ensembl_id":"ENSG00000148985"}}},"hgnc_date_symbol_changed":"2009-06-18"},"entity_type":"gene","entity_name":"PGAP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23561846","23561847","31805394","29119105","27871432"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC9753","CAB2","PP1498","PER1"],"biotype":"protein_coding","hgnc_id":"HGNC:23719","gene_name":"post-GPI attachment to proteins 3","omim_gene":["611801"],"alias_name":["post-GPI attachment to proteins 3"],"gene_symbol":"PGAP3","hgnc_symbol":"PGAP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:37827375-37853050","ensembl_id":"ENSG00000161395"}},"GRch38":{"90":{"location":"17:39671122-39696797","ensembl_id":"ENSG00000161395"}}},"hgnc_date_symbol_changed":"2009-06-02"},"entity_type":"gene","entity_name":"PGAP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24439110","29620724","30345601","30217754"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8896","gene_name":"phosphoglycerate kinase 1","omim_gene":["311800"],"alias_name":null,"gene_symbol":"PGK1","hgnc_symbol":"PGK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:77320685-77384793","ensembl_id":"ENSG00000102144"}},"GRch38":{"90":{"location":"X:78065188-78129296","ensembl_id":"ENSG00000102144"}}},"hgnc_date_symbol_changed":"1989-04-24"},"entity_type":"gene","entity_name":"PGK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22348148","16567715","28580215","30887539"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Phosphoglycerate kinase 1 deficiency, 300653 (3)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8905","gene_name":"phosphoglucomutase 1","omim_gene":["171900"],"alias_name":null,"gene_symbol":"PGM1","hgnc_symbol":"PGM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:64058947-64125916","ensembl_id":"ENSG00000079739"}},"GRch38":{"90":{"location":"1:63593276-63660245","ensembl_id":"ENSG00000079739"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PGM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24499211","33342467"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Congenital disorder of glycosylation, type It, 614921 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AGM1","DKFZP434B187","PAGM"],"biotype":"protein_coding","hgnc_id":"HGNC:8907","gene_name":"phosphoglucomutase 3","omim_gene":["172100"],"alias_name":["acetylglucosamine phosphomutase"],"gene_symbol":"PGM3","hgnc_symbol":"PGM3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:83870869-83903655","ensembl_id":"ENSG00000013375"}},"GRch38":{"90":{"location":"6:83161150-83193936","ensembl_id":"ENSG00000013375"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PGM3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31231132","33098103"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Immunodeficiency 23, 615816 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1823","MGC14797","CENP-31"],"biotype":"protein_coding","hgnc_id":"HGNC:18145","gene_name":"PHD finger protein 6","omim_gene":["300414"],"alias_name":["centromere protein 31"],"gene_symbol":"PHF6","hgnc_symbol":"PHF6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:133507283-133562820","ensembl_id":"ENSG00000156531"}},"GRch38":{"90":{"location":"X:134373253-134428791","ensembl_id":"ENSG00000156531"}}},"hgnc_date_symbol_changed":"2002-02-28"},"entity_type":"gene","entity_name":"PHF6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Borjeson-Forssman-Lehmann syndrome, MIM# 301900"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ZNF422","KIAA1111","JHDM1F","KDM7B"],"biotype":"protein_coding","hgnc_id":"HGNC:20672","gene_name":"PHD finger protein 8","omim_gene":["300560"],"alias_name":["jumonji C domain-containing histone demethylase 1F"],"gene_symbol":"PHF8","hgnc_symbol":"PHF8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:53963109-54075391","ensembl_id":"ENSG00000172943"}},"GRch38":{"90":{"location":"X:53936676-54048958","ensembl_id":"ENSG00000172943"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"PHF8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["35469323","10398231","18498374","16199551","17661819"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Intellectual developmental disorder, X-linked syndromic, Siderius type, MIM#300263"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SERA","PGDH","PDG"],"biotype":"protein_coding","hgnc_id":"HGNC:8923","gene_name":"phosphoglycerate dehydrogenase","omim_gene":["606879"],"alias_name":null,"gene_symbol":"PHGDH","hgnc_symbol":"PHGDH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:120202421-120286838","ensembl_id":"ENSG00000092621"}},"GRch38":{"90":{"location":"1:119648411-119744226","ensembl_id":"ENSG00000092621"}}},"hgnc_date_symbol_changed":"1999-11-22"},"entity_type":"gene","entity_name":"PHGDH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["39638571","37964427","24836451","25152457","11055895","19235232"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Neu-Laxova syndrome 1 MIM#256520","Phosphoglycerate dehydrogenase deficiency MIM#601815"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PAHX","RD","PHYH1"],"biotype":"protein_coding","hgnc_id":"HGNC:8940","gene_name":"phytanoyl-CoA 2-hydroxylase","omim_gene":["602026"],"alias_name":["Refsum disease","phytanoyl-CoA dioxygenase"],"gene_symbol":"PHYH","hgnc_symbol":"PHYH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:13319796-13344412","ensembl_id":"ENSG00000107537"}},"GRch38":{"90":{"location":"10:13277796-13302412","ensembl_id":"ENSG00000107537"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"PHYH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301527","9326939","9326940"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Refsum disease MIM#266500"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ23403","FLJ23144","HsT748","HsT771","FLJ34907"],"biotype":"protein_coding","hgnc_id":"HGNC:26270","gene_name":"piezo type mechanosensitive ion channel component 2","omim_gene":["613629"],"alias_name":null,"gene_symbol":"PIEZO2","hgnc_symbol":"PIEZO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:10666480-11148587","ensembl_id":"ENSG00000154864"}},"GRch38":{"90":{"location":"18:10666483-11148762","ensembl_id":"ENSG00000154864"}}},"hgnc_date_symbol_changed":"2011-08-31"},"entity_type":"gene","entity_name":"PIEZO2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27653382","27843126","27912047","27974811"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Arthrogryposis, distal, with impaired proprioception and touch, MIM#617146"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"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":["32452540"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868","Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM#301072"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"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","Mackenzie's Mission"],"phenotypes":["Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy\tMIM#616917"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8966","gene_name":"phosphatidylinositol glycan anchor biosynthesis class L","omim_gene":["605947"],"alias_name":["N-acetylglucosaminylphosphatidylinositol deacetylase"],"gene_symbol":"PIGL","hgnc_symbol":"PIGL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:16120505-16252115","ensembl_id":"ENSG00000108474"}},"GRch38":{"90":{"location":"17:16217191-16351797","ensembl_id":"ENSG00000108474"}}},"hgnc_date_symbol_changed":"1999-04-15"},"entity_type":"gene","entity_name":"PIGL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22444671","31535386","30023290","29473937","28371479","25706356"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["CHIME syndrome, MIM# 280000, MONDO:0010221"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MDC4","PIG-N"],"biotype":"protein_coding","hgnc_id":"HGNC:8967","gene_name":"phosphatidylinositol glycan anchor biosynthesis class N","omim_gene":["606097"],"alias_name":null,"gene_symbol":"PIGN","hgnc_symbol":"PIGN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:59710800-59854351","ensembl_id":"ENSG00000197563"}},"GRch38":{"90":{"location":"18:61905255-62187118","ensembl_id":"ENSG00000197563"}}},"hgnc_date_symbol_changed":"2000-05-11"},"entity_type":"gene","entity_name":"PIGN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21493957","24253414","26364997","26394714","33193741","32585529","33528536","38693247","36322149"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp434M222","FLJ00135"],"biotype":"protein_coding","hgnc_id":"HGNC:23215","gene_name":"phosphatidylinositol glycan anchor biosynthesis class O","omim_gene":["614730"],"alias_name":null,"gene_symbol":"PIGO","hgnc_symbol":"PIGO","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:35088685-35096591","ensembl_id":"ENSG00000165282"}},"GRch38":{"90":{"location":"9:35088688-35096601","ensembl_id":"ENSG00000165282"}}},"hgnc_date_symbol_changed":"2003-10-14"},"entity_type":"gene","entity_name":"PIGO","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22683086","24417746","27177984","28337824","37927489"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hyperphosphatasia with impaired intellectual development syndrome 2, MIM#614749"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:14938","gene_name":"phosphatidylinositol glycan anchor biosynthesis class T","omim_gene":["610272"],"alias_name":["GPI transamidase subunit"],"gene_symbol":"PIGT","hgnc_symbol":"PIGT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:44044717-44054884","ensembl_id":"ENSG00000124155"}},"GRch38":{"90":{"location":"20:45416067-45456934","ensembl_id":"ENSG00000124155"}}},"hgnc_date_symbol_changed":"2001-03-27"},"entity_type":"gene","entity_name":"PIGT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30976099","25943031","24906948","24906948","24906948","28728837","28728837","28728837"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20477"],"biotype":"protein_coding","hgnc_id":"HGNC:26031","gene_name":"phosphatidylinositol glycan anchor biosynthesis class V","omim_gene":["610274"],"alias_name":["GPI mannosyltransferase 2","dol-P-Man dependent GPI mannosyltransferase"],"gene_symbol":"PIGV","hgnc_symbol":"PIGV","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:27113963-27124889","ensembl_id":"ENSG00000060642"}},"GRch38":{"90":{"location":"1:26787472-26798398","ensembl_id":"ENSG00000060642"}}},"hgnc_date_symbol_changed":"2005-01-10"},"entity_type":"gene","entity_name":"PIGV","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21739589","20080219","29310717","20802478","22228761"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC35261","NYSAR97"],"biotype":"protein_coding","hgnc_id":"HGNC:28570","gene_name":"PIH1 domain containing 3","omim_gene":["300933"],"alias_name":["sarcoma antigen NY-SAR-97"],"gene_symbol":"PIH1D3","hgnc_symbol":"PIH1D3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:106449862-106487473","ensembl_id":"ENSG00000080572"}},"GRch38":{"90":{"location":"X:107206632-107244243","ensembl_id":"ENSG00000080572"}}},"hgnc_date_symbol_changed":"2012-07-18"},"entity_type":"gene","entity_name":"PIH1D3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28176794","28041644","20301301"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ciliary dyskinesia, primary, 36, X-linked, MIM #300991"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["new gene name"],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"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","Mackenzie's Mission"],"phenotypes":["Polycystic kidney disease 4, with or without hepatic disease MIM#263200"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9020","gene_name":"pyruvate kinase L/R","omim_gene":["609712"],"alias_name":null,"gene_symbol":"PKLR","hgnc_symbol":"PKLR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:155259630-155271225","ensembl_id":"ENSG00000143627"}},"GRch38":{"90":{"location":"1:155289839-155301434","ensembl_id":"ENSG00000143627"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PKLR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["1896471","9160692","9057665","16704447","9090535","32702739"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Pyruvate kinase deficiency, MIM#266200"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["iPLA2","PNPLA9","PARK14","iPLA2beta","NBIA2"],"biotype":"protein_coding","hgnc_id":"HGNC:9039","gene_name":"phospholipase A2 group VI","omim_gene":["603604"],"alias_name":["neurodegeneration with brain iron accumulation 2"],"gene_symbol":"PLA2G6","hgnc_symbol":"PLA2G6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:38507502-38601697","ensembl_id":"ENSG00000184381"}},"GRch38":{"90":{"location":"22:38111495-38205690","ensembl_id":"ENSG00000184381"}}},"hgnc_date_symbol_changed":"1998-09-07"},"entity_type":"gene","entity_name":"PLA2G6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["35803092"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Neurodegeneration with brain iron accumulation 2B MIM#610217","Infantile neuroaxonal dystrophy 1 MIM#256600"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PLAP","PLA2P","FLJ11281","FLJ12699","DOA1"],"biotype":"protein_coding","hgnc_id":"HGNC:9043","gene_name":"phospholipase A2 activating protein","omim_gene":["603873"],"alias_name":["DOA1 homolog (S. cerevisiae)"],"gene_symbol":"PLAA","hgnc_symbol":"PLAA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:26904081-26947461","ensembl_id":"ENSG00000137055"}},"GRch38":{"90":{"location":"9:26904083-26947463","ensembl_id":"ENSG00000137055"}}},"hgnc_date_symbol_changed":"1999-04-15"},"entity_type":"gene","entity_name":"PLAA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28007986","28413018","31322726"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies,MIM#617527"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1516","PLCE","NPHS3"],"biotype":"protein_coding","hgnc_id":"HGNC:17175","gene_name":"phospholipase C epsilon 1","omim_gene":["608414"],"alias_name":["nephrosis type 3","phosphoinositide phospholipase C"],"gene_symbol":"PLCE1","hgnc_symbol":"PLCE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:95753746-96092580","ensembl_id":"ENSG00000138193"}},"GRch38":{"90":{"location":"10:94030812-94332823","ensembl_id":"ENSG00000138193"}}},"hgnc_date_symbol_changed":"2002-02-18"},"entity_type":"gene","entity_name":"PLCE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17086182","18065803","20591883"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Nephrotic syndrome, type 3, 610725 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PCN","PLTN"],"biotype":"protein_coding","hgnc_id":"HGNC:9069","gene_name":"plectin","omim_gene":["601282"],"alias_name":null,"gene_symbol":"PLEC","hgnc_symbol":"PLEC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:144989321-145050902","ensembl_id":"ENSG00000178209"}},"GRch38":{"90":{"location":"8:143915147-143976734","ensembl_id":"ENSG00000178209"}}},"hgnc_date_symbol_changed":"2010-02-04"},"entity_type":"gene","entity_name":"PLEC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28447722","25556389","32576226"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive, MIM# 616487","Epidermolysis bullosa simplex 5B, with muscular dystrophy, MIM# 226670","Epidermolysis bullosa simplex 5C, with pyloric atresia MIM# 612138","Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9071","gene_name":"plasminogen","omim_gene":["173350"],"alias_name":null,"gene_symbol":"PLG","hgnc_symbol":"PLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:161123270-161174347","ensembl_id":"ENSG00000122194"}},"GRch38":{"90":{"location":"6:160702238-160753315","ensembl_id":"ENSG00000122194"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PLG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9242524","35244080"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Plasminogen deficiency, type I, 217090 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LH1"],"biotype":"protein_coding","hgnc_id":"HGNC:9081","gene_name":"procollagen-lysine,2-oxoglutarate 5-dioxygenase 1","omim_gene":["153454"],"alias_name":["lysyl hydroxlase 1"],"gene_symbol":"PLOD1","hgnc_symbol":"PLOD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:11994262-12035595","ensembl_id":"ENSG00000083444"}},"GRch38":{"90":{"location":"1:11934205-11975538","ensembl_id":"ENSG00000083444"}}},"hgnc_date_symbol_changed":"2004-12-14"},"entity_type":"gene","entity_name":"PLOD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34161861","33579342"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM# 225400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LH2"],"biotype":"protein_coding","hgnc_id":"HGNC:9082","gene_name":"procollagen-lysine,2-oxoglutarate 5-dioxygenase 2","omim_gene":["601865"],"alias_name":["lysyl hydroxlase 2","procollagen-lysine 5-dioxygenase"],"gene_symbol":"PLOD2","hgnc_symbol":"PLOD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:145787227-145881440","ensembl_id":"ENSG00000152952"}},"GRch38":{"90":{"location":"3:146069440-146163653","ensembl_id":"ENSG00000152952"}}},"hgnc_date_symbol_changed":"1996-12-18"},"entity_type":"gene","entity_name":"PLOD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22689593","12881513","33664768","33778323","29178448"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Bruck syndrome 2, MIM#609220"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GPM6C"],"biotype":"protein_coding","hgnc_id":"HGNC:9086","gene_name":"proteolipid protein 1","omim_gene":["300401"],"alias_name":["Pelizaeus-Merzbacher disease"],"gene_symbol":"PLP1","hgnc_symbol":"PLP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:103028647-103047548","ensembl_id":"ENSG00000123560"}},"GRch38":{"90":{"location":"X:103773718-103792619","ensembl_id":"ENSG00000123560"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PLP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301361","22343157","24095575"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Pelizaeus-Merzbacher disease MIM#312080, Pelizeaus-Merzbacher spectrum disorder MONDO:0010714","Spastic paraplegia 2, X-linked MIM#312920, hereditary spastic paraplegia 2 MONDO:0010733"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PROSC"],"biotype":"protein_coding","hgnc_id":"HGNC:9457","gene_name":"pyridoxal phosphate binding protein","omim_gene":["604436"],"alias_name":["proline synthetase co-transcribed (bacterial homolog)","proline synthetase cotranscribed homolog (bacterial)"],"gene_symbol":"PLPBP","hgnc_symbol":"PLPBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:37620111-37637283","ensembl_id":"ENSG00000147471"}},"GRch38":{"90":{"location":"8:37762593-37779767","ensembl_id":"ENSG00000147471"}}},"hgnc_date_symbol_changed":"2017-02-28"},"entity_type":"gene","entity_name":"PLPBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30668673","31741821"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CDGS","CDG1a","PMI","PMI1"],"biotype":"protein_coding","hgnc_id":"HGNC:9115","gene_name":"phosphomannomutase 2","omim_gene":["601785"],"alias_name":["phosphomannose isomerase 1","mannose-6-phosphate isomerase"],"gene_symbol":"PMM2","hgnc_symbol":"PMM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:8882680-8943188","ensembl_id":"ENSG00000140650"}},"GRch38":{"90":{"location":"16:8788823-8849331","ensembl_id":"ENSG00000140650"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PMM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301289"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Congenital disorder of glycosylation, type Ia, 212065 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0123","Alpha-MPP"],"biotype":"protein_coding","hgnc_id":"HGNC:18667","gene_name":"peptidase, mitochondrial processing alpha subunit","omim_gene":["613036"],"alias_name":null,"gene_symbol":"PMPCA","hgnc_symbol":"PMPCA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139305110-139318213","ensembl_id":"ENSG00000165688"}},"GRch38":{"90":{"location":"9:136410570-136423761","ensembl_id":"ENSG00000165688"}}},"hgnc_date_symbol_changed":"2003-06-20"},"entity_type":"gene","entity_name":"PMPCA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25808372","26657514","33272776","30617178"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Spinocerebellar ataxia 2, MIM#213200"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PNK"],"biotype":"protein_coding","hgnc_id":"HGNC:9154","gene_name":"polynucleotide kinase 3'-phosphatase","omim_gene":["605610"],"alias_name":null,"gene_symbol":"PNKP","hgnc_symbol":"PNKP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:50364461-50371166","ensembl_id":"ENSG00000039650"}},"GRch38":{"90":{"location":"19:49859882-49878351","ensembl_id":"ENSG00000039650"}}},"hgnc_date_symbol_changed":"1999-12-22"},"entity_type":"gene","entity_name":"PNKP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31436889","31707899","20118933","23224214","29243230","2578773","27066567"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Charcot-Marie-Tooth disease, type 2B2  MIM#605589","Ataxia-oculomotor apraxia 4 MIM#616267","Microcephaly, seizures, and developmental delay MIM#613402"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PUNP"],"biotype":"protein_coding","hgnc_id":"HGNC:7892","gene_name":"purine nucleoside phosphorylase","omim_gene":["164050"],"alias_name":null,"gene_symbol":"PNP","hgnc_symbol":"PNP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:20937113-20945253","ensembl_id":"ENSG00000198805"}},"GRch38":{"90":{"location":"14:20468954-20477094","ensembl_id":"ENSG00000198805"}}},"hgnc_date_symbol_changed":"2009-12-02"},"entity_type":"gene","entity_name":"PNP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["3029074","1384322","11453975","32695102","32514656"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NTE","sws","iPLA2delta","SPG39"],"biotype":"protein_coding","hgnc_id":"HGNC:16268","gene_name":"patatin like phospholipase domain containing 6","omim_gene":["603197"],"alias_name":["neuropathy target esterase"],"gene_symbol":"PNPLA6","hgnc_symbol":"PNPLA6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:7598890-7626650","ensembl_id":"ENSG00000032444"}},"GRch38":{"90":{"location":"19:7534004-7561764","ensembl_id":"ENSG00000032444"}}},"hgnc_date_symbol_changed":"2006-07-05"},"entity_type":"gene","entity_name":"PNPLA6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["38735647","25480986","33818269","32758583","30097146"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Boucher-Neuhauser syndrome MIM#215470","Oliver-McFarlane syndrome MIM#275400","Spastic paraplegia 39, autosomal recessive MIM#612020"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PDXPO"],"biotype":"protein_coding","hgnc_id":"HGNC:30260","gene_name":"pyridoxamine 5'-phosphate oxidase","omim_gene":["603287"],"alias_name":null,"gene_symbol":"PNPO","hgnc_symbol":"PNPO","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:46018872-46025654","ensembl_id":"ENSG00000108439"}},"GRch38":{"90":{"location":"17:47941506-47949308","ensembl_id":"ENSG00000108439"}}},"hgnc_date_symbol_changed":"2004-11-22"},"entity_type":"gene","entity_name":"PNPO","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34769443","33981986","33748042","32888189","24658933","15772097","31261385","31616300","31759955"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP434C245"],"biotype":"protein_coding","hgnc_id":"HGNC:24488","gene_name":"POC1 centriolar protein A","omim_gene":["614783"],"alias_name":null,"gene_symbol":"POC1A","hgnc_symbol":"POC1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:52109269-52188706","ensembl_id":"ENSG00000164087"}},"GRch38":{"90":{"location":"3:52075253-52154690","ensembl_id":"ENSG00000164087"}}},"hgnc_date_symbol_changed":"2010-03-26"},"entity_type":"gene","entity_name":"POC1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22840364","22840363","26374189","26162852","26791357"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700","Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM#613662"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RPA40","RPA39","RPA5","RPAC1"],"biotype":"protein_coding","hgnc_id":"HGNC:20194","gene_name":"RNA polymerase I subunit C","omim_gene":["610060"],"alias_name":null,"gene_symbol":"POLR1C","hgnc_symbol":"POLR1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:43477440-43497323","ensembl_id":"ENSG00000171453"}},"GRch38":{"90":{"location":"6:43509702-43529585","ensembl_id":"ENSG00000171453"}}},"hgnc_date_symbol_changed":"2003-04-01"},"entity_type":"gene","entity_name":"POLR1C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26151409","21131976","30957429","32042905"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leukodystrophy, hypomyelinating, 11 MIM#616494","Treacher Collins syndrome 3 MIM#248390"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RPC1","RPC155","hRPC155"],"biotype":"protein_coding","hgnc_id":"HGNC:30074","gene_name":"RNA polymerase III subunit A","omim_gene":["614258"],"alias_name":null,"gene_symbol":"POLR3A","hgnc_symbol":"POLR3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:79734907-79789303","ensembl_id":"ENSG00000148606"}},"GRch38":{"90":{"location":"10:77969251-78029545","ensembl_id":"ENSG00000148606"}}},"hgnc_date_symbol_changed":"2004-09-16"},"entity_type":"gene","entity_name":"POLR3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31637490","21855841","38561452"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694","Wiedemann-Rautenstrauch syndrome, MIM# 264090"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RPC2","FLJ10388"],"biotype":"protein_coding","hgnc_id":"HGNC:30348","gene_name":"RNA polymerase III subunit B","omim_gene":["614366"],"alias_name":null,"gene_symbol":"POLR3B","hgnc_symbol":"POLR3B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:106751436-106903976","ensembl_id":"ENSG00000013503"}},"GRch38":{"90":{"location":"12:106357658-106510198","ensembl_id":"ENSG00000013503"}}},"hgnc_date_symbol_changed":"2004-04-21"},"entity_type":"gene","entity_name":"POLR3B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27512013","23355746","22036171","22036172","25339210","33005949","22855961","33417887"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MSH","POC","CLIP","ACTH","NPP","LPH"],"biotype":"protein_coding","hgnc_id":"HGNC:9201","gene_name":"proopiomelanocortin","omim_gene":["176830"],"alias_name":["adrenocorticotropin","beta-lipotropin","alpha-melanocyte stimulating hormone","beta-melanocyte stimulating hormone","beta-endorphin","adrenocorticotropic hormone","opiomelanocortin prepropeptide"],"gene_symbol":"POMC","hgnc_symbol":"POMC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:25383722-25391772","ensembl_id":"ENSG00000115138"}},"GRch38":{"90":{"location":"2:25160853-25168903","ensembl_id":"ENSG00000115138"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"POMC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34177811"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Obesity, adrenal insufficiency, and red hair due to POMC deficiency, MIM#609734"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20277","MGAT1.2","LGMD2O"],"biotype":"protein_coding","hgnc_id":"HGNC:19139","gene_name":"protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)","omim_gene":["606822"],"alias_name":["protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"],"gene_symbol":"POMGNT1","hgnc_symbol":"POMGNT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:46654354-46685977","ensembl_id":"ENSG00000085998"}},"GRch38":{"90":{"location":"1:46188682-46220305","ensembl_id":"ENSG00000085998"}}},"hgnc_date_symbol_changed":"2005-06-02"},"entity_type":"gene","entity_name":"POMGNT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27391550","26908613","30961548","30937090"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, MIM#253280","Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, MIM#613151","Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ14566","AGO61"],"biotype":"protein_coding","hgnc_id":"HGNC:25902","gene_name":"protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)","omim_gene":["614828"],"alias_name":null,"gene_symbol":"POMGNT2","hgnc_symbol":"POMGNT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:43120724-43147568","ensembl_id":"ENSG00000144647"}},"GRch38":{"90":{"location":"3:43079232-43106076","ensembl_id":"ENSG00000144647"}}},"hgnc_date_symbol_changed":"2013-08-22"},"entity_type":"gene","entity_name":"POMGNT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34301702"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, 618135","Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, MIM#618135"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ23356","SgK196"],"biotype":"protein_coding","hgnc_id":"HGNC:26267","gene_name":"protein-O-mannose kinase","omim_gene":["615247"],"alias_name":null,"gene_symbol":"POMK","hgnc_symbol":"POMK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:42948658-42978577","ensembl_id":"ENSG00000185900"}},"GRch38":{"90":{"location":"8:43093506-43123434","ensembl_id":"ENSG00000185900"}}},"hgnc_date_symbol_changed":"2013-08-22"},"entity_type":"gene","entity_name":"POMK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32907597","31833209","29910097","28109637","24925318","24556084"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM#615249"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSPC014","UMP1"],"biotype":"protein_coding","hgnc_id":"HGNC:20330","gene_name":"proteasome maturation protein","omim_gene":["613386"],"alias_name":["proteassemblin"],"gene_symbol":"POMP","hgnc_symbol":"POMP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:29233241-29253062","ensembl_id":"ENSG00000132963"}},"GRch38":{"90":{"location":"13:28659104-28678925","ensembl_id":"ENSG00000132963"}}},"hgnc_date_symbol_changed":"2006-07-04"},"entity_type":"gene","entity_name":"POMP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32425927"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LGMD2K"],"biotype":"protein_coding","hgnc_id":"HGNC:9202","gene_name":"protein O-mannosyltransferase 1","omim_gene":["607423"],"alias_name":["dolichyl-phosphate-mannose-protein mannosyltransferase"],"gene_symbol":"POMT1","hgnc_symbol":"POMT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:134378289-134399193","ensembl_id":"ENSG00000130714"}},"GRch38":{"90":{"location":"9:131502902-131523806","ensembl_id":"ENSG00000130714"}}},"hgnc_date_symbol_changed":"1999-06-25"},"entity_type":"gene","entity_name":"POMT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15792865","22549409","31311558","20065251","25088310","19299310","19299310"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Myopathy caused by variation in POMT1 MONDO:0700070"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LGMD2N"],"biotype":"protein_coding","hgnc_id":"HGNC:19743","gene_name":"protein O-mannosyltransferase 2","omim_gene":["607439"],"alias_name":["Dolichyl-phosphate-mannose--protein mannosyltransferase"],"gene_symbol":"POMT2","hgnc_symbol":"POMT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:77741299-77787227","ensembl_id":"ENSG00000009830"}},"GRch38":{"90":{"location":"14:77274956-77320884","ensembl_id":"ENSG00000009830"}}},"hgnc_date_symbol_changed":"2003-01-17"},"entity_type":"gene","entity_name":"POMT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17923109","24183756","19299310"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150","Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, MIM# 613156"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:30129","gene_name":"POP1 homolog, ribonuclease P/MRP subunit","omim_gene":["602486"],"alias_name":["processing of precursors 1"],"gene_symbol":"POP1","hgnc_symbol":"POP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:99129525-99172062","ensembl_id":"ENSG00000104356"}},"GRch38":{"90":{"location":"8:98117297-98159834","ensembl_id":"ENSG00000104356"}}},"hgnc_date_symbol_changed":"2004-03-17"},"entity_type":"gene","entity_name":"POP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27380734","28067412"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Anauxetic dysplasia 2, MIM#617396"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CYPOR","FLJ26468"],"biotype":"protein_coding","hgnc_id":"HGNC:9208","gene_name":"cytochrome p450 oxidoreductase","omim_gene":["124015"],"alias_name":null,"gene_symbol":"POR","hgnc_symbol":"POR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:75528518-75616173","ensembl_id":"ENSG00000127948"}},"GRch38":{"90":{"location":"7:75899200-75986855","ensembl_id":"ENSG00000127948"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"POR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308","20301592","35842891"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GHF-1","POU1F1a"],"biotype":"protein_coding","hgnc_id":"HGNC:9210","gene_name":"POU class 1 homeobox 1","omim_gene":["173110"],"alias_name":["growth hormone factor 1"],"gene_symbol":"POU1F1","hgnc_symbol":"POU1F1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:87308554-87325737","ensembl_id":"ENSG00000064835"}},"GRch38":{"90":{"location":"3:87259404-87276587","ensembl_id":"ENSG00000064835"}}},"hgnc_date_symbol_changed":"1993-01-12"},"entity_type":"gene","entity_name":"POU1F1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["1472057","15928241","7593413"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Pituitary hormone deficiency, combined or isolated, 1, MIM#613038"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20459"],"biotype":"protein_coding","hgnc_id":"HGNC:28883","gene_name":"pyrophosphatase (inorganic) 2","omim_gene":["609988"],"alias_name":null,"gene_symbol":"PPA2","hgnc_symbol":"PPA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:106290234-106395238","ensembl_id":"ENSG00000138777"}},"GRch38":{"90":{"location":"4:105369077-105474081","ensembl_id":"ENSG00000138777"}}},"hgnc_date_symbol_changed":"2005-10-07"},"entity_type":"gene","entity_name":"PPA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27523598","34400813"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Sudden cardiac failure, infantile, MIM#617222","Sudden cardiac failure, alcohol-induced, MIM#617223"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CYPB","OI9"],"biotype":"protein_coding","hgnc_id":"HGNC:9255","gene_name":"peptidylprolyl isomerase B","omim_gene":["123841"],"alias_name":["cyclophilin B"],"gene_symbol":"PPIB","hgnc_symbol":"PPIB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:64448011-64455404","ensembl_id":"ENSG00000166794"}},"GRch38":{"90":{"location":"15:64155812-64163205","ensembl_id":"ENSG00000166794"}}},"hgnc_date_symbol_changed":"1991-11-25"},"entity_type":"gene","entity_name":"PPIB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19781681","32392875"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Osteogenesis imperfecta, type IX MIM#259440"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CLN1","INCL"],"biotype":"protein_coding","hgnc_id":"HGNC:9325","gene_name":"palmitoyl-protein thioesterase 1","omim_gene":["600722"],"alias_name":["ceroid-lipofuscinosis, neuronal 1, infantile"],"gene_symbol":"PPT1","hgnc_symbol":"PPT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:40538379-40563375","ensembl_id":"ENSG00000131238"}},"GRch38":{"90":{"location":"1:40071461-40097727","ensembl_id":"ENSG00000131238"}}},"hgnc_date_symbol_changed":"2000-06-09"},"entity_type":"gene","entity_name":"PPT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7637805","9425237","31741823","19793312"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 1, MIM# 256730"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9330","gene_name":"polyglutamine binding protein 1","omim_gene":["300463"],"alias_name":null,"gene_symbol":"PQBP1","hgnc_symbol":"PQBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48755195-48760420","ensembl_id":"ENSG00000102103"}},"GRch38":{"90":{"location":"X:48897912-48903143","ensembl_id":"ENSG00000102103"}}},"hgnc_date_symbol_changed":"1999-01-12"},"entity_type":"gene","entity_name":"PQBP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31840929","14634649","20410308","19661183"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Renpenning syndrome, 309500 (3)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:13997","gene_name":"PR/SET domain 12","omim_gene":["616458"],"alias_name":["PR-domain containing protein 12","PR-domain zinc finger protein 12"],"gene_symbol":"PRDM12","hgnc_symbol":"PRDM12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:133539981-133558368","ensembl_id":"ENSG00000130711"}},"GRch38":{"90":{"location":"9:130664594-130682981","ensembl_id":"ENSG00000130711"}}},"hgnc_date_symbol_changed":"2000-11-28"},"entity_type":"gene","entity_name":"PRDM12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26005867","33789102","33010785","32828702"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PFM2"],"biotype":"protein_coding","hgnc_id":"HGNC:9349","gene_name":"PR/SET domain 5","omim_gene":["614161"],"alias_name":null,"gene_symbol":"PRDM5","hgnc_symbol":"PRDM5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:121606074-121844025","ensembl_id":"ENSG00000138738"}},"GRch38":{"90":{"location":"4:120684919-120922870","ensembl_id":"ENSG00000138738"}}},"hgnc_date_symbol_changed":"1999-08-23"},"entity_type":"gene","entity_name":"PRDM5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14679583","22122778","21664999","8458232","28306229"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Brittle cornea syndrome 2, MIM#614170"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PFP","P1","HPLH2"],"biotype":"protein_coding","hgnc_id":"HGNC:9360","gene_name":"perforin 1","omim_gene":["170280"],"alias_name":["Perforin","perforin 1 (preforming protein)"],"gene_symbol":"PRF1","hgnc_symbol":"PRF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:72357104-72362531","ensembl_id":"ENSG00000180644"}},"GRch38":{"90":{"location":"10:70597348-70602775","ensembl_id":"ENSG00000180644"}}},"hgnc_date_symbol_changed":"1989-02-23"},"entity_type":"gene","entity_name":"PRF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19595804","26199792","30070073","19487666","26184781","10583959","19487666"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hemophagocytic lymphohistiocytosis, familial, 2, MIM#603553"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["JCAP","SZP","MSF","HAPO","bG174L6.2","FLJ32635"],"biotype":"protein_coding","hgnc_id":"HGNC:9364","gene_name":"proteoglycan 4","omim_gene":["604283"],"alias_name":["lubricin","megakaryocyte stimulating factor","articular superficial zone protein","Jacobs camptodactyly-arthropathy-pericarditis syndrome","camptodactyly, arthropathy, coxa vara, pericarditis syndrome","bG174L6.2 (MSF: megakaryocyte stimulating factor )"],"gene_symbol":"PRG4","hgnc_symbol":"PRG4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:186265405-186283694","ensembl_id":"ENSG00000116690"}},"GRch38":{"90":{"location":"1:186296279-186314562","ensembl_id":"ENSG00000116690"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"PRG4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10545950","29397575"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ31937","EPM1B","RILP"],"biotype":"protein_coding","hgnc_id":"HGNC:17019","gene_name":"prickle planar cell polarity protein 1","omim_gene":["608500"],"alias_name":["REST/NRSF interacting LIM domain protein"],"gene_symbol":"PRICKLE1","hgnc_symbol":"PRICKLE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:42852140-42984157","ensembl_id":"ENSG00000139174"}},"GRch38":{"90":{"location":"12:42456757-42590355","ensembl_id":"ENSG00000139174"}}},"hgnc_date_symbol_changed":"2003-02-10"},"entity_type":"gene","entity_name":"PRICKLE1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Mackenzie's Mission"],"phenotypes":["Epilepsy, progressive myoclonic 1B, MIM# 612437"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PACT","RAX","HSD14","DYT16"],"biotype":"protein_coding","hgnc_id":"HGNC:9438","gene_name":"protein activator of interferon induced protein kinase EIF2AK2","omim_gene":["603424"],"alias_name":["protein activator of the interferon-induced protein kinase"],"gene_symbol":"PRKRA","hgnc_symbol":"PRKRA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:179296141-179316239","ensembl_id":"ENSG00000180228"}},"GRch38":{"90":{"location":"2:178431414-178451512","ensembl_id":"ENSG00000180228"}}},"hgnc_date_symbol_changed":"1999-12-07"},"entity_type":"gene","entity_name":"PRKRA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25142429","29279192"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Dystonia 16, MIM#612067"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null}]}