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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CLTD","CLH22","CHC22"],"biotype":"protein_coding","hgnc_id":"HGNC:2093","gene_name":"clathrin heavy chain like 1","omim_gene":["601273"],"alias_name":null,"gene_symbol":"CLTCL1","hgnc_symbol":"CLTCL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:19166986-19279239","ensembl_id":"ENSG00000070371"}},"GRch38":{"90":{"location":"22:19179473-19291716","ensembl_id":"ENSG00000070371"}}},"hgnc_date_symbol_changed":"1995-09-08"},"entity_type":"gene","entity_name":"CLTCL1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["26068709","29402896","22511880","31354784"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Congenital insensitivity to pain"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["U2"],"biotype":"snRNA","hgnc_id":"HGNC:10152","gene_name":"RNA, U2 small nuclear 2, pseudogene","omim_gene":null,"alias_name":null,"gene_symbol":"RNU2-2P","hgnc_symbol":"RNU2-2P","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:62609091-62609281","ensembl_id":"ENSG00000222328"}},"GRch38":{"90":{"location":"11:62841619-62841809","ensembl_id":"ENSG00000222328"}}},"hgnc_date_symbol_changed":"2013-05-16"},"entity_type":"gene","entity_name":"RNU2-2P","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40210679","40442284","40950445"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 119, MIM# 621304"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["new gene name","non-coding gene"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ23590"],"biotype":"protein_coding","hgnc_id":"HGNC:966","gene_name":"Bardet-Biedl syndrome 1","omim_gene":["209901"],"alias_name":null,"gene_symbol":"BBS1","hgnc_symbol":"BBS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:66278077-66301098","ensembl_id":"ENSG00000174483"}},"GRch38":{"90":{"location":"11:66510606-66533627","ensembl_id":"ENSG00000174483"}}},"hgnc_date_symbol_changed":"1994-01-28"},"entity_type":"gene","entity_name":"BBS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20177705","15637713"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Bardet-Biedl syndrome 1, MIM# 209900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SV2","KIAA0736"],"biotype":"protein_coding","hgnc_id":"HGNC:20566","gene_name":"synaptic vesicle glycoprotein 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microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["76P","FLJ14797"],"biotype":"protein_coding","hgnc_id":"HGNC:16691","gene_name":"tubulin gamma complex associated protein 4","omim_gene":["609610"],"alias_name":null,"gene_symbol":"TUBGCP4","hgnc_symbol":"TUBGCP4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:43661419-43699293","ensembl_id":"ENSG00000137822"}},"GRch38":{"90":{"location":"15:43369221-43409771","ensembl_id":"ENSG00000137822"}}},"hgnc_date_symbol_changed":"2007-08-20"},"entity_type":"gene","entity_name":"TUBGCP4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25817018"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Microcephaly and chorioretinopathy, autosomal recessive, MIM#616335"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1583","gene_name":"cyclin D2","omim_gene":["123833"],"alias_name":["G1/S-specific cyclin D2"],"gene_symbol":"CCND2","hgnc_symbol":"CCND2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:4382938-4414516","ensembl_id":"ENSG00000118971"}},"GRch38":{"90":{"location":"12:4273772-4305350","ensembl_id":"ENSG00000118971"}}},"hgnc_date_symbol_changed":"1991-12-10"},"entity_type":"gene","entity_name":"CCND2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":159,"hash_id":null,"name":"Polydactyly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes that cause syndromic and non-syndromic polydactyly.","status":"public","version":"0.301","version_created":"2026-03-12T11:30:58.449890+11:00","relevant_disorders":["Polydactyly","HP:0010442"],"stats":{"number_of_genes":141,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CEK2","JTK4","CD333"],"biotype":"protein_coding","hgnc_id":"HGNC:3690","gene_name":"fibroblast growth factor receptor 3","omim_gene":["134934"],"alias_name":null,"gene_symbol":"FGFR3","hgnc_symbol":"FGFR3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:1795034-1810599","ensembl_id":"ENSG00000068078"}},"GRch38":{"90":{"location":"4:1793307-1808872","ensembl_id":"ENSG00000068078"}}},"hgnc_date_symbol_changed":"1991-06-07"},"entity_type":"gene","entity_name":"FGFR3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["LADD syndrome, MIM#149730"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":163,"hash_id":null,"name":"Radial Ray Abnormalities","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Radial Dysplasia' panel and all differences have been resolved, with reciprocal feedback provided to Genomics England.","status":"public","version":"1.21","version_created":"2026-01-15T11:51:47.687282+11:00","relevant_disorders":["Abnormality of radial ray","HP:0410049"],"stats":{"number_of_genes":62,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["hdhc11","DHC2","DHC1b","DYH1B"],"biotype":"protein_coding","hgnc_id":"HGNC:2962","gene_name":"dynein cytoplasmic 2 heavy chain 1","omim_gene":["603297"],"alias_name":null,"gene_symbol":"DYNC2H1","hgnc_symbol":"DYNC2H1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:102980160-103350591","ensembl_id":"ENSG00000187240"}},"GRch38":{"90":{"location":"11:103109431-103479863","ensembl_id":"ENSG00000187240"}}},"hgnc_date_symbol_changed":"2005-11-24"},"entity_type":"gene","entity_name":"DYNC2H1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19442771","19361615","22499340","23456818","27925158"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091","MONDO:0013127"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":179,"hash_id":null,"name":"Skeletal Ciliopathies","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. \r\n\r\nThis panel contains genes associated with skeletal ciliopathies (including short rib polydactyly and jeune asphyxiating thoracic dystrophy).\r\n\r\nIt has been compared against the Genomics England PanelApp Skeletal Ciliopathy panel, with all differences resolved and reciprocal feedback provided to Genomics England, 24/05/2020.\r\n\r\nConsider applying the broader Skeletal Dysplasia panel if the clinical presentation is not entirely typical of a skeletal ciliopathy.","status":"public","version":"1.23","version_created":"2026-02-26T20:48:41.390236+11:00","relevant_disorders":["Short rib","HP:0000773; Polydactyly","HP:0010442; Bell-shaped thorax","HP:0001591"],"stats":{"number_of_genes":37,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ASRG"],"biotype":"protein_coding","hgnc_id":"HGNC:318","gene_name":"aspartylglucosaminidase","omim_gene":["613228"],"alias_name":["glycosylasparaginase","N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"],"gene_symbol":"AGA","hgnc_symbol":"AGA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:178351924-178363657","ensembl_id":"ENSG00000038002"}},"GRch38":{"90":{"location":"4:177430770-177442503","ensembl_id":"ENSG00000038002"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"AGA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["1703489","1904874","8064811","8946839"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Aspartylglucosaminuria, MIM# 208400","MONDO:0008830"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":181,"hash_id":null,"name":"Lysosomal Storage Disorder","disease_group":"Metabolic conditions","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe lysosomal storage diseases are a group of progressive metabolic disorders that are caused by enzyme deficiencies within the lysosome. The abnormal storage process leads to a broad spectrum of somatic and/or neurological clinical manifestations depending on the specific substrate and site of accumulation. Examples include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses.\r\n\r\nIf the clinical presentation is not specific for a lysosomal storage disorder, please consider the broader Metabolic Disorders Superpanel.","status":"public","version":"1.31","version_created":"2026-03-31T16:05:25.488597+11:00","relevant_disorders":["Lysosomal storage disorder","MONDO:0002561; Visceromegaly","HP:0003271"],"stats":{"number_of_genes":80,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6217","gene_name":"katanin regulatory subunit B1","omim_gene":["602703"],"alias_name":null,"gene_symbol":"KATNB1","hgnc_symbol":"KATNB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:57769642-57791162","ensembl_id":"ENSG00000140854"}},"GRch38":{"90":{"location":"16:57735730-57757250","ensembl_id":"ENSG00000140854"}}},"hgnc_date_symbol_changed":"1999-08-25"},"entity_type":"gene","entity_name":"KATNB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 26640080"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Lissencephaly 6, with microcephaly MIM#616212"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ATP5A","hATP1","OMR","ORM"],"biotype":"protein_coding","hgnc_id":"HGNC:823","gene_name":"ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle","omim_gene":["164360"],"alias_name":null,"gene_symbol":"ATP5A1","hgnc_symbol":"ATP5A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:43664110-43684300","ensembl_id":"ENSG00000152234"}},"GRch38":{"90":{"location":"18:46080248-46104334","ensembl_id":"ENSG00000152234"}}},"hgnc_date_symbol_changed":"1993-02-25"},"entity_type":"gene","entity_name":"ATP5A1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["23599390","23596069","34954817"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A MIM#620358","Combined oxidative phosphorylation deficiency 22 616045","Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["new gene name"],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["UNC104"],"biotype":"protein_coding","hgnc_id":"HGNC:888","gene_name":"kinesin family member 1A","omim_gene":["601255"],"alias_name":null,"gene_symbol":"KIF1A","hgnc_symbol":"KIF1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:241653181-241759725","ensembl_id":"ENSG00000130294"}},"GRch38":{"90":{"location":"2:240713764-240820308","ensembl_id":"ENSG00000130294"}}},"hgnc_date_symbol_changed":"2004-01-14"},"entity_type":"gene","entity_name":"KIF1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21820098","28708278"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["NESCAV syndrome, MIM# 614255"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. 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These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":437,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PGIV","MGC793"],"biotype":"protein_coding","hgnc_id":"HGNC:7692","gene_name":"NADH:ubiquinone oxidoreductase subunit A8","omim_gene":["603359"],"alias_name":["complex I PGIV subunit"],"gene_symbol":"NDUFA8","hgnc_symbol":"NDUFA8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:124894745-124922098","ensembl_id":"ENSG00000119421"}},"GRch38":{"90":{"location":"9:122144058-122159819","ensembl_id":"ENSG00000119421"}}},"hgnc_date_symbol_changed":"1997-12-17"},"entity_type":"gene","entity_name":"NDUFA8","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32385911","33153867"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272","Developmental delay","microcehaly","seizures"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":437,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"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":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.610","version_created":"2026-03-31T18:57:58.699788+11:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CIA30","CGI-65"],"biotype":"protein_coding","hgnc_id":"HGNC:18828","gene_name":"NADH:ubiquinone oxidoreductase complex assembly factor 1","omim_gene":["606934"],"alias_name":null,"gene_symbol":"NDUFAF1","hgnc_symbol":"NDUFAF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:41679551-41694717","ensembl_id":"ENSG00000137806"}},"GRch38":{"90":{"location":"15:41387349-41402519","ensembl_id":"ENSG00000137806"}}},"hgnc_date_symbol_changed":"2004-02-02"},"entity_type":"gene","entity_name":"NDUFAF1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["17557076","21931170","16218961","24963768","34975718"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 11 - 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Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ22794","KIAA1895"],"biotype":"protein_coding","hgnc_id":"HGNC:24725","gene_name":"family with sequence similarity 111 member A","omim_gene":["615292"],"alias_name":null,"gene_symbol":"FAM111A","hgnc_symbol":"FAM111A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:58910221-58922512","ensembl_id":"ENSG00000166801"}},"GRch38":{"90":{"location":"11:59142748-59155039","ensembl_id":"ENSG00000166801"}}},"hgnc_date_symbol_changed":"2006-02-06"},"entity_type":"gene","entity_name":"FAM111A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23684011","32996714","32765931","33010201","39932783","39501122"],"evidence":["Expert Review Green","Expert list","Radboud University Medical Center, Nijmegen","NHS GMS"],"phenotypes":["Gracile bone dysplasia 602361","Kenny-Caffey syndrome, type 2 127000"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics 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This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.202","version_created":"2026-04-02T15:02:17.166617+11:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["AST","SD","ISSD","NSD","SIALIN","SLD"],"biotype":"protein_coding","hgnc_id":"HGNC:10933","gene_name":"solute carrier family 17 member 5","omim_gene":["604322"],"alias_name":null,"gene_symbol":"SLC17A5","hgnc_symbol":"SLC17A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:74303102-74363878","ensembl_id":"ENSG00000119899"}},"GRch38":{"90":{"location":"6:73593379-73654155","ensembl_id":"ENSG00000119899"}}},"hgnc_date_symbol_changed":"2000-01-06"},"entity_type":"gene","entity_name":"SLC17A5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26171070"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Salla disease","Sialic acid storage disease, severe infantile type, MIM# 269920"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.202","version_created":"2026-04-02T15:02:17.166617+11:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ32731","HGNAT"],"biotype":"protein_coding","hgnc_id":"HGNC:26527","gene_name":"heparan-alpha-glucosaminide N-acetyltransferase","omim_gene":["610453"],"alias_name":null,"gene_symbol":"HGSNAT","hgnc_symbol":"HGSNAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:42995556-43057998","ensembl_id":"ENSG00000165102"}},"GRch38":{"90":{"location":"8:43140455-43202855","ensembl_id":"ENSG00000165102"}}},"hgnc_date_symbol_changed":"2006-08-16"},"entity_type":"gene","entity_name":"HGSNAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Retinitis pigmentosa 73"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":277,"hash_id":null,"name":"Retinitis pigmentosa","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.","status":"public","version":"0.245","version_created":"2026-03-28T13:33:23.781842+11:00","relevant_disorders":["Abnormal retinal morphology","HP:0000479"],"stats":{"number_of_genes":159,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0725","SPG54"],"biotype":"protein_coding","hgnc_id":"HGNC:29106","gene_name":"DDHD domain containing 2","omim_gene":["615003"],"alias_name":null,"gene_symbol":"DDHD2","hgnc_symbol":"DDHD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:38082736-38133076","ensembl_id":"ENSG00000085788"}},"GRch38":{"90":{"location":"8:38225218-38275558","ensembl_id":"ENSG00000085788"}}},"hgnc_date_symbol_changed":"2004-04-07"},"entity_type":"gene","entity_name":"DDHD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23486545","24482476","23176823"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Spastic paraplegia 54, autosomal recessive, MIM#\t615033","MONDO:0014018"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KRM1"],"biotype":"protein_coding","hgnc_id":"HGNC:17550","gene_name":"kringle containing transmembrane protein 1","omim_gene":["609898"],"alias_name":null,"gene_symbol":"KREMEN1","hgnc_symbol":"KREMEN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:29469066-29564321","ensembl_id":"ENSG00000183762"}},"GRch38":{"90":{"location":"22:29073078-29168333","ensembl_id":"ENSG00000183762"}}},"hgnc_date_symbol_changed":"2002-11-15"},"entity_type":"gene","entity_name":"KREMEN1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["29526031","29526031"],"evidence":["Expert Review Amber","Expert list","Expert Review Amber","Royal Melbourne Hospital"],"phenotypes":["Ectodermal dysplasia 13, hair/tooth type, 617392"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3089,"hash_id":null,"name":"Ectodermal Dysplasia","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body.\r\n\r\nThis is a consensus panel used by RMH and VCGS.\r\n\r\nPlease refer to the Hair Disorders panel for disorders primarily affecting hair.","status":"public","version":"0.110","version_created":"2026-03-31T16:43:36.155380+11:00","relevant_disorders":["Ectodermal dysplasia","HP:0000968"],"stats":{"number_of_genes":61,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["END","HHT1","CD105"],"biotype":"protein_coding","hgnc_id":"HGNC:3349","gene_name":"endoglin","omim_gene":["131195"],"alias_name":null,"gene_symbol":"ENG","hgnc_symbol":"ENG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:130577291-130617035","ensembl_id":"ENSG00000106991"}},"GRch38":{"90":{"location":"9:127815012-127854756","ensembl_id":"ENSG00000106991"}}},"hgnc_date_symbol_changed":"1993-03-03"},"entity_type":"gene","entity_name":"ENG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30336550"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300","Pulmonary arterial hypertension"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3095,"hash_id":null,"name":"Pulmonary Arterial Hypertension","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel is maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nThe content of this panel has been compared against the Genomics England 'Pulmonary Arterial Hypertension' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 27/07/2020.\r\n\r\nThe content of this panel has been aligned with curations by the ClinGen PAH GCEP, PMID 37422716, 07/08/2023.","status":"public","version":"1.56","version_created":"2026-03-28T14:21:49.158422+11:00","relevant_disorders":["Pulmonary arterial hypertension","HP:0002092"],"stats":{"number_of_genes":37,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["beta-catenin","armadillo"],"biotype":"protein_coding","hgnc_id":"HGNC:2514","gene_name":"catenin beta 1","omim_gene":["116806"],"alias_name":null,"gene_symbol":"CTNNB1","hgnc_symbol":"CTNNB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:41236328-41301587","ensembl_id":"ENSG00000168036"}},"GRch38":{"90":{"location":"3:41194837-41260096","ensembl_id":"ENSG00000168036"}}},"hgnc_date_symbol_changed":"1993-07-13"},"entity_type":"gene","entity_name":"CTNNB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33350591"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.256","version_created":"2026-03-31T19:05:29.271183+11:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":138,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CP1B"],"biotype":"protein_coding","hgnc_id":"HGNC:2597","gene_name":"cytochrome P450 family 1 subfamily B member 1","omim_gene":["601771"],"alias_name":null,"gene_symbol":"CYP1B1","hgnc_symbol":"CYP1B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:38294116-38337044","ensembl_id":"ENSG00000138061"}},"GRch38":{"90":{"location":"2:38066973-38109902","ensembl_id":"ENSG00000138061"}}},"hgnc_date_symbol_changed":"1994-12-20"},"entity_type":"gene","entity_name":"CYP1B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["APP3","NPHPL1","ICP55"],"biotype":"protein_coding","hgnc_id":"HGNC:28052","gene_name":"X-prolyl aminopeptidase 3","omim_gene":["613553"],"alias_name":["Intermediate Cleaving Peptidase 55"],"gene_symbol":"XPNPEP3","hgnc_symbol":"XPNPEP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:41253081-41363838","ensembl_id":"ENSG00000196236"}},"GRch38":{"90":{"location":"22:40857077-40932815","ensembl_id":"ENSG00000196236"}}},"hgnc_date_symbol_changed":"2006-08-02"},"entity_type":"gene","entity_name":"XPNPEP3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Mackenzie's Mission"],"phenotypes":["Nephronophthisis-like nephropathy 1, 613159 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GH-N","GHN","GH","hGH-N"],"biotype":"protein_coding","hgnc_id":"HGNC:4261","gene_name":"growth hormone 1","omim_gene":["139250"],"alias_name":["pituitary growth hormone","somatotropin"],"gene_symbol":"GH1","hgnc_symbol":"GH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:61994560-61996179","ensembl_id":"ENSG00000259384"}},"GRch38":{"90":{"location":"17:63917200-63918838","ensembl_id":"ENSG00000259384"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"GH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["2840669","1603635","12655557","15671105","8552145","9276733","15713716"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Growth hormone deficiency, isolated, type IA (262400)","Growth hormone deficiency, isolated, type IB (612781)","Growth hormone deficiency, isolated, type II (173100)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3236,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"Endocrine 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GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7329","gene_name":"mutS homolog 6","omim_gene":["600678"],"alias_name":null,"gene_symbol":"MSH6","hgnc_symbol":"MSH6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:47922669-48037240","ensembl_id":"ENSG00000116062"}},"GRch38":{"90":{"location":"2:47695530-47810101","ensembl_id":"ENSG00000116062"}}},"hgnc_date_symbol_changed":"1995-08-29"},"entity_type":"gene","entity_name":"MSH6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Medulloblastoma, MONDO:0007959","Lynch syndrome 5, MONDO:0013710","Mismatch repair cancer syndrome 3, MONDO:0030841","Lynch syndrome 5, MIM#614350","Mismatch repair cancer syndrome 3, MIM#619097"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":3280,"hash_id":null,"name":"Medulloblastoma","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with medulloblastoma. \r\n\r\nFurther information on the testing criteria for medulloblastoma can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/paediatric/genetic-testing-using-cancer-gene-panels/3654-medulloblastoma-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with medulloblastoma and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\n\r\nThis panel was developed by the Adult Genetics Unit, Royal Adelaide Hospital and SA Pathology. This panel has been updated under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.1","version_created":"2024-11-01T16:31:30.977610+11:00","relevant_disorders":["Medulloblastoma","HP:0002885"],"stats":{"number_of_genes":12,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"SA Pathology","slug":"sa-pathology","description":"SA Pathology"},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["JNCL","BTN1"],"biotype":"protein_coding","hgnc_id":"HGNC:2074","gene_name":"CLN3, battenin","omim_gene":["607042"],"alias_name":["juvenile neuronal ceroid lipofuscinosis"],"gene_symbol":"CLN3","hgnc_symbol":"CLN3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:28477983-28506896","ensembl_id":"ENSG00000188603"}},"GRch38":{"90":{"location":"16:28474111-28495575","ensembl_id":"ENSG00000188603"}}},"hgnc_date_symbol_changed":"1989-06-06"},"entity_type":"gene","entity_name":"CLN3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 3"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0439","RSP5","NEDD4-2"],"biotype":"protein_coding","hgnc_id":"HGNC:7728","gene_name":"neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase","omim_gene":["606384"],"alias_name":null,"gene_symbol":"NEDD4L","hgnc_symbol":"NEDD4L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:55711599-56068772","ensembl_id":"ENSG00000049759"}},"GRch38":{"90":{"location":"18:58044367-58401540","ensembl_id":"ENSG00000049759"}}},"hgnc_date_symbol_changed":"2000-03-14"},"entity_type":"gene","entity_name":"NEDD4L","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Epilepsy, photosensitive generalised"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PAB2"],"biotype":"protein_coding","hgnc_id":"HGNC:8565","gene_name":"poly(A) binding protein nuclear 1","omim_gene":["602279"],"alias_name":null,"gene_symbol":"PABPN1","hgnc_symbol":"PABPN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:23790498-23795394","ensembl_id":"ENSG00000100836"}},"GRch38":{"90":{"location":"14:23321289-23326185","ensembl_id":"ENSG00000100836"}}},"hgnc_date_symbol_changed":"1995-05-01"},"entity_type":"gene","entity_name":"PABPN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Oculopharyngeal muscular dystrophy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10257","gene_name":"receptor tyrosine kinase like orphan receptor 2","omim_gene":["602337"],"alias_name":null,"gene_symbol":"ROR2","hgnc_symbol":"ROR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:94325373-94712444","ensembl_id":"ENSG00000169071"}},"GRch38":{"90":{"location":"9:91563091-91950162","ensembl_id":"ENSG00000169071"}}},"hgnc_date_symbol_changed":"2000-02-29"},"entity_type":"gene","entity_name":"ROR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["ROBINOW SYNDROME, AUTOSOMAL RECESSIVE","RRS"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20184"],"biotype":"protein_coding","hgnc_id":"HGNC:25968","gene_name":"Rho guanine nucleotide exchange factor 38","omim_gene":null,"alias_name":null,"gene_symbol":"ARHGEF38","hgnc_symbol":"ARHGEF38","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:106473777-106629250","ensembl_id":"ENSG00000236699"}},"GRch38":{"90":{"location":"4:105552620-105708093","ensembl_id":"ENSG00000236699"}}},"hgnc_date_symbol_changed":"2010-04-13"},"entity_type":"gene","entity_name":"ARHGEF38","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["36493769"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Cleft lip/palate MONDO:0016044, ARHGEF38-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PAT2","tramdorin","TRAMD1"],"biotype":"protein_coding","hgnc_id":"HGNC:18762","gene_name":"solute carrier family 36 member 2","omim_gene":["608331"],"alias_name":null,"gene_symbol":"SLC36A2","hgnc_symbol":"SLC36A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:150694539-150727151","ensembl_id":"ENSG00000186335"}},"GRch38":{"90":{"location":"5:151314978-151347590","ensembl_id":"ENSG00000186335"}}},"hgnc_date_symbol_changed":"2003-01-13"},"entity_type":"gene","entity_name":"SLC36A2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["19033659","26141664","27604308"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Hyperglycinuria MIM#138500","Iminoglycinuria, digenic MIM#242600","Disorders of amino acid transport"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ20551"],"biotype":"protein_coding","hgnc_id":"HGNC:26054","gene_name":"solute carrier family 25 member 38","omim_gene":["610819"],"alias_name":null,"gene_symbol":"SLC25A38","hgnc_symbol":"SLC25A38","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:39424839-39438842","ensembl_id":"ENSG00000144659"}},"GRch38":{"90":{"location":"3:39383348-39397351","ensembl_id":"ENSG00000144659"}}},"hgnc_date_symbol_changed":"2006-09-21"},"entity_type":"gene","entity_name":"SLC25A38","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21393332","19412178","24323989"],"evidence":["NHS Genomic Medicine Service","Expert Review Green","Genomics England PanelApp"],"phenotypes":["205950 Anemia, sideroblastic, 2, pyridoxine-refractory","Sideroblastic anaemia - increased serum ferritin"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3469,"hash_id":null,"name":"Metal Metabolism Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause inborn errors of molybdenum, copper, iron, manganese, zinc, selenium, and magnesium metabolism.  \r\nThis panel was based on the Genomics England/NHS Genomics Medicine Service 'Iron metabolism disorders' panel. It is part of the Metabolic Disorders Superpanel.","status":"public","version":"0.54","version_created":"2026-02-17T14:35:14.331246+11:00","relevant_disorders":["Abnormality of iron homeostasis","HP:0011031;Abnormal blood transition element cation concentration","HP:0011030"],"stats":{"number_of_genes":51,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0384","p120","p120cas","p120ctn"],"biotype":"protein_coding","hgnc_id":"HGNC:2515","gene_name":"catenin delta 1","omim_gene":["601045"],"alias_name":null,"gene_symbol":"CTNND1","hgnc_symbol":"CTNND1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:57520715-57587018","ensembl_id":"ENSG00000198561"}},"GRch38":{"90":{"location":"11:57753243-57819546","ensembl_id":"ENSG00000198561"}}},"hgnc_date_symbol_changed":"1995-09-18"},"entity_type":"gene","entity_name":"CTNND1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32196547"],"evidence":["Expert Review Green","Genomics England PanelApp","Literature"],"phenotypes":["Blepharocheilodontic syndrome 2, MIM# 617681","MONDO:0040503","chonal atresia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3498,"hash_id":null,"name":"Choanal atresia","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains genes associated with choanal atresia, with or without additional malformations, with thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"1.6","version_created":"2024-10-03T11:49:26.278825+10:00","relevant_disorders":["Choanal atresia HP:0000453"],"stats":{"number_of_genes":16,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TPX"],"biotype":"protein_coding","hgnc_id":"HGNC:12015","gene_name":"thyroid peroxidase","omim_gene":["606765"],"alias_name":null,"gene_symbol":"TPO","hgnc_symbol":"TPO","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:1377995-1547483","ensembl_id":"ENSG00000115705"}},"GRch38":{"90":{"location":"2:1374223-1543711","ensembl_id":"ENSG00000115705"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"TPO","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34220711","30662777"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Thyroid dyshormonogenesis 2A - MIM#274500"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PE-2","PE2"],"biotype":"protein_coding","hgnc_id":"HGNC:3444","gene_name":"ETS2 repressor factor","omim_gene":["611888"],"alias_name":null,"gene_symbol":"ERF","hgnc_symbol":"ERF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:42751724-42759309","ensembl_id":"ENSG00000105722"}},"GRch38":{"90":{"location":"19:42247572-42255157","ensembl_id":"ENSG00000105722"}}},"hgnc_date_symbol_changed":"1998-07-17"},"entity_type":"gene","entity_name":"ERF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23354439","26097063","32370745","30758909"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Chitayat syndrome, MIM#617180","Craniosynostosis 4, MIM#600775"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. 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It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DAN"],"biotype":"protein_coding","hgnc_id":"HGNC:8609","gene_name":"poly(A)-specific ribonuclease","omim_gene":["604212"],"alias_name":["deadenylation nuclease"],"gene_symbol":"PARN","hgnc_symbol":"PARN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:14529558-14726585","ensembl_id":"ENSG00000140694"}},"GRch38":{"90":{"location":"16:14435701-14632728","ensembl_id":"ENSG00000140694"}}},"hgnc_date_symbol_changed":"1998-07-23"},"entity_type":"gene","entity_name":"PARN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25893599","26342108","25848748"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Dyskeratosis congenita, autosomal recessive 6, MIM# 616353"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. 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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":["SAHH"],"biotype":"protein_coding","hgnc_id":"HGNC:343","gene_name":"adenosylhomocysteinase","omim_gene":["180960"],"alias_name":null,"gene_symbol":"AHCY","hgnc_symbol":"AHCY","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:32868074-32899608","ensembl_id":"ENSG00000101444"}},"GRch38":{"90":{"location":"20:34280268-34311802","ensembl_id":"ENSG00000101444"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"AHCY","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["13641268","15024124","16736098","20852937","22959829","30121674","26527160","26095522","27848944","31957987","35463910"],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0013404"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSPOX2","PRODH1","PIG6","PRODH2","TP53I6"],"biotype":"protein_coding","hgnc_id":"HGNC:9453","gene_name":"proline dehydrogenase 1","omim_gene":["606810"],"alias_name":["proline oxidase"],"gene_symbol":"PRODH","hgnc_symbol":"PRODH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:18900294-18924066","ensembl_id":"ENSG00000100033"}},"GRch38":{"90":{"location":"22:18912777-18936553","ensembl_id":"ENSG00000100033"}}},"hgnc_date_symbol_changed":"1996-12-12"},"entity_type":"gene","entity_name":"PRODH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Hyperprolinemia, type I"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CMG2","CMG-2","FLJ31074"],"biotype":"protein_coding","hgnc_id":"HGNC:21732","gene_name":"anthrax toxin receptor 2","omim_gene":["608041"],"alias_name":["capillary morphogenesis protein 2"],"gene_symbol":"ANTXR2","hgnc_symbol":"ANTXR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:80822303-81046608","ensembl_id":"ENSG00000163297"}},"GRch38":{"90":{"location":"4:79901149-80125454","ensembl_id":"ENSG00000163297"}}},"hgnc_date_symbol_changed":"2003-09-25"},"entity_type":"gene","entity_name":"ANTXR2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Hyaline fibromatosis syndrome, MIM# 228600","MONDO:0009229"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AP-4-EPSILON","SPG51"],"biotype":"protein_coding","hgnc_id":"HGNC:573","gene_name":"adaptor related protein complex 4 epsilon 1 subunit","omim_gene":["607244"],"alias_name":null,"gene_symbol":"AP4E1","hgnc_symbol":"AP4E1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:51200869-51298097","ensembl_id":"ENSG00000081014"}},"GRch38":{"90":{"location":"15:50908672-51005900","ensembl_id":"ENSG00000081014"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP4E1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["20972249","32979048","23472171","21620353","21937992"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["Spastic paraplegia 51, autosomal recessive, MIM# 613744"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:29502","gene_name":"pejvakin","omim_gene":["610219"],"alias_name":null,"gene_symbol":"DFNB59","hgnc_symbol":"PJVK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:179316163-179326117","ensembl_id":"ENSG00000204311"}},"GRch38":{"90":{"location":"2:178451436-178461390","ensembl_id":"ENSG00000204311"}}},"hgnc_date_symbol_changed":"2017-06-30"},"entity_type":"gene","entity_name":"DFNB59","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Deafness, autosomal recessive 59, MIM# 610220"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name","deafness"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GPT","D11S366","DGPT","ALG7","CDG-Ij"],"biotype":"protein_coding","hgnc_id":"HGNC:2995","gene_name":"dolichyl-phosphate N-acetylglucosaminephosphotransferase 1","omim_gene":["191350"],"alias_name":["GlcNAc-1-P transferase 1","UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1"],"gene_symbol":"DPAGT1","hgnc_symbol":"DPAGT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118967213-118979041","ensembl_id":"ENSG00000172269"}},"GRch38":{"90":{"location":"11:119096503-119108331","ensembl_id":"ENSG00000172269"}}},"hgnc_date_symbol_changed":"1993-12-13"},"entity_type":"gene","entity_name":"DPAGT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Congenital disorder of glycosylation, type Ij, MIM# 608093","DPAGT1-CDG MONDO:0011964","Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","neurological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LCA2","rd12","BCO3"],"biotype":"protein_coding","hgnc_id":"HGNC:10294","gene_name":"RPE65, retinoid isomerohydrolase","omim_gene":["180069"],"alias_name":["BCO family, member 3","retinol isomerase","all-trans-retinyl-palmitate hydrolase"],"gene_symbol":"RPE65","hgnc_symbol":"RPE65","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:68894505-68915642","ensembl_id":"ENSG00000116745"}},"GRch38":{"90":{"location":"1:68428822-68449959","ensembl_id":"ENSG00000116745"}}},"hgnc_date_symbol_changed":"1993-10-04"},"entity_type":"gene","entity_name":"RPE65","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["Leber congenital amaurosis 2 MIM#204100","Retinitis pigmentosa 20 MIM#613794"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["for review","treatable","ophthalmological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:163","gene_name":"actinin alpha 1","omim_gene":["102575"],"alias_name":null,"gene_symbol":"ACTN1","hgnc_symbol":"ACTN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:69340860-69446157","ensembl_id":"ENSG00000072110"}},"GRch38":{"90":{"location":"14:68874143-68979440","ensembl_id":"ENSG00000072110"}}},"hgnc_date_symbol_changed":"1990-08-21"},"entity_type":"gene","entity_name":"ACTN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23434115"],"evidence":["Expert list","Expert Review Green"],"phenotypes":["Bleeding disorder, platelet-type, 15, MIM# 615193"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11773","gene_name":"transforming growth factor beta receptor 2","omim_gene":["190182"],"alias_name":null,"gene_symbol":"TGFBR2","hgnc_symbol":"TGFBR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:30647994-30735634","ensembl_id":"ENSG00000163513"}},"GRch38":{"90":{"location":"3:30606502-30694142","ensembl_id":"ENSG00000163513"}}},"hgnc_date_symbol_changed":"1993-09-30"},"entity_type":"gene","entity_name":"TGFBR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Loeys-Dietz syndrome 2, MIM# 610168"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ERYF1","NFE1","GATA-1","NF-E1"],"biotype":"protein_coding","hgnc_id":"HGNC:4170","gene_name":"GATA binding protein 1","omim_gene":["305371"],"alias_name":["nuclear factor, erythroid 1"],"gene_symbol":"GATA1","hgnc_symbol":"GATA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48644962-48652716","ensembl_id":"ENSG00000102145"}},"GRch38":{"90":{"location":"X:48786554-48794311","ensembl_id":"ENSG00000102145"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"GATA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green"],"phenotypes":["Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["JBTS4","SLSN1"],"biotype":"protein_coding","hgnc_id":"HGNC:7905","gene_name":"nephrocystin 1","omim_gene":["607100"],"alias_name":null,"gene_symbol":"NPHP1","hgnc_symbol":"NPHP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:110879888-110962643","ensembl_id":"ENSG00000144061"}},"GRch38":{"90":{"location":"2:110122311-110205066","ensembl_id":"ENSG00000144061"}}},"hgnc_date_symbol_changed":"1991-08-08"},"entity_type":"gene","entity_name":"NPHP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Nephronophthisis 1, juvenile MIM#256100","Joubert syndrome 4 MIM#609583","Senior-Loken syndrome-1 MIM#266900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that 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":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"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:6601","gene_name":"DNA ligase 4","omim_gene":["601837"],"alias_name":["polydeoxyribonucleotide synthase [ATP] 4","polynucleotide ligase","sealase","DNA repair enzyme","DNA joinase"],"gene_symbol":"LIG4","hgnc_symbol":"LIG4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:108859787-108870716","ensembl_id":"ENSG00000174405"}},"GRch38":{"90":{"location":"13:108207439-108218368","ensembl_id":"ENSG00000174405"}}},"hgnc_date_symbol_changed":"1995-08-10"},"entity_type":"gene","entity_name":"LIG4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16088910","9823897","15333585","9809069","12023982","11040211","15175260","19451691","17554302"],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that 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":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"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":["CL25022","cblD"],"biotype":"protein_coding","hgnc_id":"HGNC:25221","gene_name":"methylmalonic aciduria and homocystinuria, cblD type","omim_gene":["611935"],"alias_name":null,"gene_symbol":"MMADHC","hgnc_symbol":"MMADHC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:150426148-150444330","ensembl_id":"ENSG00000168288"}},"GRch38":{"90":{"location":"2:149569634-149587816","ensembl_id":"ENSG00000168288"}}},"hgnc_date_symbol_changed":"2009-01-08"},"entity_type":"gene","entity_name":"MMADHC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27604308","18385497"],"evidence":["Expert Review Green","Literature","NHS GMS"],"phenotypes":["Homocystinuria, cblD type, variant 1 MIM#277410","Methylmalonic aciduria and homocystinuria, cblD type MIM#277410","Methylmalonic aciduria, cblD type, variant 2 MIM#277410","Disorders of cobalamin absorption, transport and metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":4257,"hash_id":null,"name":"Vitamin metabolism disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"The gene panel contains genes that cause inborn errors of vitamin metabolism.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.7","version_created":"2024-09-18T09:35:00.495806+10:00","relevant_disorders":["Abnormality of vitamin metabolism","HP:0100508"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PYPAF3","NOD12","PAN7","CLR19.4"],"biotype":"protein_coding","hgnc_id":"HGNC:22947","gene_name":"NLR family pyrin domain containing 7","omim_gene":["609661"],"alias_name":["nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"],"gene_symbol":"NLRP7","hgnc_symbol":"NLRP7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:55434877-55477680","ensembl_id":"ENSG00000167634"}},"GRch38":{"90":{"location":"19:54923509-54966312","ensembl_id":"ENSG00000167634"}}},"hgnc_date_symbol_changed":"2006-12-08"},"entity_type":"gene","entity_name":"NLRP7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["17579354","19650864","25097207","23201303","23722513","32172300","37148315"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Recurrent hydatidiform mole 1, # MIM 231090"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.137","version_created":"2026-03-31T15:48:32.205924+11:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"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:11776","gene_name":"TGFB induced factor homeobox 1","omim_gene":["602630"],"alias_name":null,"gene_symbol":"TGIF1","hgnc_symbol":"TGIF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:3411606-3458409","ensembl_id":"ENSG00000177426"}},"GRch38":{"90":{"location":"18:3411608-3459978","ensembl_id":"ENSG00000177426"}}},"hgnc_date_symbol_changed":"2007-01-30"},"entity_type":"gene","entity_name":"TGIF1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["23476075, 34440302"],"evidence":["Expert Review Amber","Genomics England PanelApp"],"phenotypes":["Holoprosencephaly 4, MONDO:0007734"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":4523,"hash_id":null,"name":"Adrenal insufficiency","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","description":"This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.","status":"public","version":"0.76","version_created":"2026-03-19T16:21:18.336273+11:00","relevant_disorders":[],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSS","ERV1","ALR","HERV1","HPO1","HPO2"],"biotype":"protein_coding","hgnc_id":"HGNC:4236","gene_name":"growth factor, augmenter of liver regeneration","omim_gene":["600924"],"alias_name":["ERV1 homolog (S. cerevisiae)","FAD-linked sulfhydryl oxidase ALR"],"gene_symbol":"GFER","hgnc_symbol":"GFER","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:2034208-2037750","ensembl_id":"ENSG00000127554"}},"GRch38":{"90":{"location":"16:1984207-1987749","ensembl_id":"ENSG00000127554"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"GFER","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["26018198"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Mitochondrial disease, MONDO:0044970"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4523,"hash_id":null,"name":"Adrenal insufficiency","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","description":"This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.","status":"public","version":"0.76","version_created":"2026-03-19T16:21:18.336273+11:00","relevant_disorders":[],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["JP-3","CAGL237","HDL2","JP3"],"biotype":"protein_coding","hgnc_id":"HGNC:14203","gene_name":"junctophilin 3","omim_gene":["605268"],"alias_name":null,"gene_symbol":"JPH3","hgnc_symbol":"JPH3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:87635441-87731762","ensembl_id":"ENSG00000154118"}},"GRch38":{"90":{"location":"16:87601835-87698156","ensembl_id":"ENSG00000154118"}}},"hgnc_date_symbol_changed":"2000-12-08"},"entity_type":"str","entity_name":"JPH3_HDL2_CTG","confidence_level":"3","penetrance":null,"publications":["11558794","20301701"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Huntington disease-like 2 MIM#606438"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CTG","chromosome":"16","grch37_coordinates":[87637894,87637935],"grch38_coordinates":[87604288,87604329],"normal_repeats":28,"pathogenic_repeats":40,"tags":[],"panel":{"id":26,"hash_id":null,"name":"Early-onset Parkinson disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"2.51","version_created":"2026-03-30T11:47:22.375379+11:00","relevant_disorders":["Abnormality of extrapyramidal motor function","HP:0002071"],"stats":{"number_of_genes":129,"number_of_strs":14,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":{"alias":["FLJ39458"],"biotype":"protein_coding","hgnc_id":"HGNC:31750","gene_name":"sterile alpha motif domain containing 12","omim_gene":null,"alias_name":null,"gene_symbol":"SAMD12","hgnc_symbol":"SAMD12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:119201698-119634234","ensembl_id":"ENSG00000177570"}},"GRch38":{"90":{"location":"8:118189459-118621995","ensembl_id":"ENSG00000177570"}}},"hgnc_date_symbol_changed":"2004-07-15"},"entity_type":"str","entity_name":"SAMD12_FAME1_TTTCA","confidence_level":"3","penetrance":null,"publications":["30194086","29507423"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Epilepsy, familial adult myoclonic, 1 MIM#601068"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","repeated_sequence":"TTTCA","chromosome":"8","grch37_coordinates":[119379055,119379157],"grch38_coordinates":[118366816,118366918],"normal_repeats":0,"pathogenic_repeats":100,"tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":{"alias":["FMRP","FRAXA","MGC87458"],"biotype":"protein_coding","hgnc_id":"HGNC:3775","gene_name":"fragile X mental retardation 1","omim_gene":["309550"],"alias_name":null,"gene_symbol":"FMR1","hgnc_symbol":"FMR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:146993469-147032645","ensembl_id":"ENSG00000102081"}},"GRch38":{"90":{"location":"X:147911951-147951125","ensembl_id":"ENSG00000102081"}}},"hgnc_date_symbol_changed":"1992-01-17"},"entity_type":"str","entity_name":"FMR1_FXTAS_CGG","confidence_level":"3","penetrance":null,"publications":["23765048","25227148","11445641"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Fragile X tremor/ataxia syndrome MIM#300623"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","repeated_sequence":"CGG","chromosome":"X","grch37_coordinates":[146993569,146993628],"grch38_coordinates":[147912051,147912110],"normal_repeats":44,"pathogenic_repeats":55,"tags":["adult-onset"],"panel":{"id":3597,"hash_id":null,"name":"Repeat Disorders","disease_group":"","disease_sub_group":"","description":"This panel contains reported short tandem repeat (STR) expansion disorders. The naming convention of the STRs is based on the name of the condition or fragile site that the expansion is associated with. \r\nThe panel was developed by RMH and WEHI, and is maintained by RMH.\r\n\r\nThis panel is used as a research panel by the Australian Genomics Acute Care study.","status":"public","version":"0.272","version_created":"2026-01-02T15:16:39.779953+11:00","relevant_disorders":[],"stats":{"number_of_genes":0,"number_of_strs":76,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]}}]}