{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=45","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=43","results":[{"gene_data":{"alias":["FLJ21439"],"biotype":"protein_coding","hgnc_id":"HGNC:11226","gene_name":"SPG11, spatacsin vesicle trafficking associated","omim_gene":["610844"],"alias_name":["spatacsin"],"gene_symbol":"SPG11","hgnc_symbol":"SPG11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:44854894-44955876","ensembl_id":"ENSG00000104133"}},"GRch38":{"90":{"location":"15:44562696-44663678","ensembl_id":"ENSG00000104133"}}},"hgnc_date_symbol_changed":"1999-10-08"},"entity_type":"gene","entity_name":"SPG11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27318863","28237315","18079167"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Spastic paraplegia 11, autosomal recessive MIM#604360","Charcot-Marie-Tooth disease, axonal, type 2X MIM#616668","Amyotrophic lateral sclerosis 5, juvenile MIM#602099"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":24,"hash_id":null,"name":"Early-onset Dementia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause frontotemporal dementia (FTD), Alzheimer's disease, other forms of dementia, and adult-onset cognitive decline. 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b"],"gene_symbol":"SDHD","hgnc_symbol":"SDHD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:111957497-111990353","ensembl_id":"ENSG00000204370"}},"GRch38":{"90":{"location":"11:112086773-112120013","ensembl_id":"ENSG00000204370"}}},"hgnc_date_symbol_changed":"1997-10-21"},"entity_type":"gene","entity_name":"SDHD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance","Victorian Clinical Genetics Services"],"phenotypes":["Paragangliomas 1, with or without deafness, MIM# 168000","Pheochromocytoma, MIM# 171300"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","tags":[],"panel":{"id":126,"hash_id":null,"name":"Incidentalome","disease_group":"","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, 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panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PAP-A","PAPA","PAPA1","PAPB","ACLS","PPDIV"],"biotype":"protein_coding","hgnc_id":"HGNC:4319","gene_name":"GLI family zinc finger 3","omim_gene":["165240"],"alias_name":["zinc finger protein GLI3","oncogene GLI3","DNA-binding protein"],"gene_symbol":"GLI3","hgnc_symbol":"GLI3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:42000548-42277469","ensembl_id":"ENSG00000106571"}},"GRch38":{"90":{"location":"7:41960950-42237870","ensembl_id":"ENSG00000106571"}}},"hgnc_date_symbol_changed":"1989-05-29"},"entity_type":"gene","entity_name":"GLI3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Greig cephalopolysyndactyly syndrome (MIM#175700)","Pallister-Hall syndrome (MIM#146510)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":129,"hash_id":null,"name":"Joubert syndrome and other neurological ciliopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes associated with Joubert syndrome, Meckel Gruber syndrome and other ciliopathies where structural CNS abnormalities are prominent.\r\n\r\nPlease consider also applying the Cerebellar and Pontocerebellar Hypoplasia panel in the presence of more non-specific cerebellar abnormalities and applying the Ciliopathy panel in the presence of additional clinical features suggestive of a multi-system ciliopathy.","status":"public","version":"1.33","version_created":"2025-12-16T12:55:34.757878+11:00","relevant_disorders":["Molar tooth sign on MRI","HP:0002419; Joubert syndrome","MONDO:0018772"],"stats":{"number_of_genes":69,"number_of_strs":0,"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"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BP240","KIAA0728","FLJ21489","FLJ13425","FLJ32235","FLJ30627","CATX-15","BPA","MACF2"],"biotype":"protein_coding","hgnc_id":"HGNC:1090","gene_name":"dystonin","omim_gene":["113810"],"alias_name":null,"gene_symbol":"DST","hgnc_symbol":"DST","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:56322785-56819426","ensembl_id":"ENSG00000151914"}},"GRch38":{"90":{"location":"6:56457987-56954628","ensembl_id":"ENSG00000151914"}}},"hgnc_date_symbol_changed":"2004-07-01"},"entity_type":"gene","entity_name":"DST","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22522446","30371979","28468842","40497796"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653","Epidermolysis bullosa simplex, autosomal recessive 2, MIM#615425","Congenital myopathy 29 with contractures, MIM# 621510","Lethal congenital contracture syndrome 12, MIM# 621511"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CSNBAD3"],"biotype":"protein_coding","hgnc_id":"HGNC:4393","gene_name":"G protein subunit alpha transducin 1","omim_gene":["139330"],"alias_name":null,"gene_symbol":"GNAT1","hgnc_symbol":"GNAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:50229045-50233949","ensembl_id":"ENSG00000114349"}},"GRch38":{"90":{"location":"3:50191612-50196516","ensembl_id":"ENSG00000114349"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GNAT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8673138","17584859","22190596","26472407","11095744","11095744","30051303"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Night blindness, congenital stationary, autosomal dominant 3, MIM# 610444","Night blindness, congenital stationary, type 1G, MIM# 616389"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["IMP3","PSL2"],"biotype":"protein_coding","hgnc_id":"HGNC:30227","gene_name":"signal peptide peptidase like 2A","omim_gene":["608238"],"alias_name":["intramembrane protease 3","presenilin-like protein 2"],"gene_symbol":"SPPL2A","hgnc_symbol":"SPPL2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:50999506-51058005","ensembl_id":"ENSG00000138600"}},"GRch38":{"90":{"location":"15:50702266-50765808","ensembl_id":"ENSG00000138600"}}},"hgnc_date_symbol_changed":"2012-02-21"},"entity_type":"gene","entity_name":"SPPL2A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["30127434"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Immunodeficiency 86, MIM#619549","Susceptibility to mycobacteria and Salmonella"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ12734"],"biotype":"protein_coding","hgnc_id":"HGNC:27302","gene_name":"IBA57 homolog, iron-sulfur cluster assembly","omim_gene":["615316"],"alias_name":["iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"],"gene_symbol":"IBA57","hgnc_symbol":"IBA57","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:228353516-228369958","ensembl_id":"ENSG00000181873"}},"GRch38":{"90":{"location":"1:228165815-228182257","ensembl_id":"ENSG00000181873"}}},"hgnc_date_symbol_changed":"2011-03-11"},"entity_type":"gene","entity_name":"IBA57","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23462291","25971455","27785568","28671726","28913435","25609768","30258207"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Multiple mitochondrial dysfunctions syndrome 3, MIM#615330","Spastic paraplegia 74, autosomal recessive MIM#616451"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ADAM-TS6"],"biotype":"protein_coding","hgnc_id":"HGNC:222","gene_name":"ADAM metallopeptidase with thrombospondin type 1 motif 6","omim_gene":["605008"],"alias_name":["a disintegrin and metalloproteinase with thrombospondin motifs 6"],"gene_symbol":"ADAMTS6","hgnc_symbol":"ADAMTS6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:64444563-64777747","ensembl_id":"ENSG00000049192"}},"GRch38":{"90":{"location":"5:65148736-65481920","ensembl_id":"ENSG00000049192"}}},"hgnc_date_symbol_changed":"1999-09-06"},"entity_type":"gene","entity_name":"ADAMTS6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 40657314"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Connective tissue disorder MONDO:0003900, ADAMTS6-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6530","gene_name":"lactase","omim_gene":["603202"],"alias_name":null,"gene_symbol":"LCT","hgnc_symbol":"LCT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:136545410-136594750","ensembl_id":"ENSG00000115850"}},"GRch38":{"90":{"location":"2:135787840-135837180","ensembl_id":"ENSG00000115850"}}},"hgnc_date_symbol_changed":"1989-05-29"},"entity_type":"gene","entity_name":"LCT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","NHS GMS","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Lactase deficiency, congenital, MIM# 223000"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PSP-94","PSP57","PSP94","IGBF","MSP","MSPB","PN44","PRPS","PSP"],"biotype":null,"hgnc_id":"HGNC:7372","gene_name":"microseminoprotein beta","omim_gene":["157145"],"alias_name":["beta-microseminoprotein"],"gene_symbol":"MSMB","hgnc_symbol":"MSMB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:51549498-51562517","ensembl_id":"ENSG00000138294"}},"GRch38":{"90":{"location":"10:46033307-46046269","ensembl_id":"ENSG00000263639"}}},"hgnc_date_symbol_changed":"1991-08-07"},"entity_type":"gene","entity_name":"MSMB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{Prostate cancer, hereditary, 13} 611928"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SDR22E1","CI-39k"],"biotype":"protein_coding","hgnc_id":"HGNC:7693","gene_name":"NADH:ubiquinone oxidoreductase subunit A9","omim_gene":["603834"],"alias_name":["short chain dehydrogenase/reductase family 22E, member 1","complex I 39kDa subunit"],"gene_symbol":"NDUFA9","hgnc_symbol":"NDUFA9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:4758261-4798454","ensembl_id":"ENSG00000139180"}},"GRch38":{"90":{"location":"12:4649095-4694317","ensembl_id":"ENSG00000139180"}}},"hgnc_date_symbol_changed":"1997-12-17"},"entity_type":"gene","entity_name":"NDUFA9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26425749","28671271","22114105"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 26 - MIM#618247"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC25497"],"biotype":"protein_coding","hgnc_id":"HGNC:23297","gene_name":"potassium channel tetramerization domain containing 15","omim_gene":["615240"],"alias_name":null,"gene_symbol":"KCTD15","hgnc_symbol":"KCTD15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:34286838-34306668","ensembl_id":"ENSG00000153885"}},"GRch38":{"90":{"location":"19:33795933-33815763","ensembl_id":"ENSG00000153885"}}},"hgnc_date_symbol_changed":"2003-11-05"},"entity_type":"gene","entity_name":"KCTD15","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["38296633"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["frontonasal dysplasia, MONDO:0016643"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hCsl4p","Csl4p","CSL4","Ski4p","SKI4","CGI-108","p13"],"biotype":"protein_coding","hgnc_id":"HGNC:17286","gene_name":"exosome component 1","omim_gene":["606493"],"alias_name":["CSL4 exosomal core protein homolog (yeast)"],"gene_symbol":"EXOSC1","hgnc_symbol":"EXOSC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:99195899-99205774","ensembl_id":"ENSG00000171311"}},"GRch38":{"90":{"location":"10:97436142-97446017","ensembl_id":"ENSG00000171311"}}},"hgnc_date_symbol_changed":"2004-03-26"},"entity_type":"gene","entity_name":"EXOSC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["33463720"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Pontocerebellar hypoplasia, type 1F, MIM# 619304"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["hEPG5"],"biotype":"protein_coding","hgnc_id":"HGNC:29331","gene_name":"ectopic P-granules autophagy protein 5 homolog","omim_gene":["615068"],"alias_name":null,"gene_symbol":"EPG5","hgnc_symbol":"EPG5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:43427574-43547240","ensembl_id":"ENSG00000152223"}},"GRch38":{"90":{"location":"18:45847609-45967274","ensembl_id":"ENSG00000152223"}}},"hgnc_date_symbol_changed":"2011-03-02"},"entity_type":"gene","entity_name":"EPG5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23222957"],"evidence":["Expert Review Green","Other","Expert Review Green"],"phenotypes":["Vici Syndrome (MONDO: 0009452","MIM#242840)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"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":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SMAP-1","GC-UNC45"],"biotype":"protein_coding","hgnc_id":"HGNC:30594","gene_name":"unc-45 myosin chaperone A","omim_gene":["611219"],"alias_name":["smooth muscle cell associated protein-1"],"gene_symbol":"UNC45A","hgnc_symbol":"UNC45A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91473410-91497323","ensembl_id":"ENSG00000140553"}},"GRch38":{"90":{"location":"15:90930180-90954093","ensembl_id":"ENSG00000140553"}}},"hgnc_date_symbol_changed":"2005-11-17"},"entity_type":"gene","entity_name":"UNC45A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29429573"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Osteootohepatoenteric syndrome, MIM# 619377","cholestasis","congenital diarrhea","impaired hearing","bone fragility"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":147,"hash_id":null,"name":"Osteogenesis Imperfecta and Osteoporosis","disease_group":"Skeletal disorders; Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with osteogenesis imperfecta and osteoporosis. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Osteogenesis imperfecta' panel V5.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.18","version_created":"2026-02-22T14:59:29.563350+11:00","relevant_disorders":["Increased susceptibility to fractures","HP:0002659"],"stats":{"number_of_genes":48,"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":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["merlin","ACN","SCH","BANF"],"biotype":"protein_coding","hgnc_id":"HGNC:7773","gene_name":"neurofibromin 2","omim_gene":["607379"],"alias_name":["moesin-ezrin-radixin like","schwannomin"],"gene_symbol":"NF2","hgnc_symbol":"NF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:29999545-30094587","ensembl_id":"ENSG00000186575"}},"GRch38":{"90":{"location":"22:29603556-29698598","ensembl_id":"ENSG00000186575"}}},"hgnc_date_symbol_changed":"1992-01-01"},"entity_type":"gene","entity_name":"NF2","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":152,"hash_id":null,"name":"Cancer Predisposition_Paediatric","disease_group":"Cancer","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.133","version_created":"2026-01-12T09:35:45.797477+11:00","relevant_disorders":[],"stats":{"number_of_genes":106,"number_of_strs":0,"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":["MEK2"],"biotype":"protein_coding","hgnc_id":"HGNC:6842","gene_name":"mitogen-activated protein kinase kinase 2","omim_gene":["601263"],"alias_name":null,"gene_symbol":"MAP2K2","hgnc_symbol":"MAP2K2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:4090319-4124126","ensembl_id":"ENSG00000126934"}},"GRch38":{"90":{"location":"19:4090321-4124129","ensembl_id":"ENSG00000126934"}}},"hgnc_date_symbol_changed":"1993-11-05"},"entity_type":"gene","entity_name":"MAP2K2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["20358587","16439621","18042262"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cardiofaciocutaneous syndrome 4, MIM# 615280"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":164,"hash_id":null,"name":"Rasopathy","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 ClinGen Rasopathy Working Group gene-disease validity assessments (PMID: 30311384) and against the Genomics England PanelApp Rasopathies panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"0.113","version_created":"2026-01-26T17:08:48.260163+11:00","relevant_disorders":["Rasopathy","MONDO:0021060"],"stats":{"number_of_genes":32,"number_of_strs":0,"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"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["71-7A","JBTS10"],"biotype":"protein_coding","hgnc_id":"HGNC:2567","gene_name":"OFD1, centriole and centriolar satellite protein","omim_gene":["300170"],"alias_name":null,"gene_symbol":"OFD1","hgnc_symbol":"OFD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:13752832-13787480","ensembl_id":"ENSG00000046651"}},"GRch38":{"90":{"location":"X:13734745-13769353","ensembl_id":"ENSG00000046651"}}},"hgnc_date_symbol_changed":"1998-10-01"},"entity_type":"gene","entity_name":"OFD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19800048","22353940"],"evidence":["Expert Review Green","KidGen_CilioNephronop v38.1.0","Victorian Clinical Genetics Services"],"phenotypes":["Orofaciodigital syndrome I, MIM# 311200","Joubert syndrome 10, MIM# 300804"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":193,"hash_id":null,"name":"Renal Ciliopathies and Nephronophthisis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen","status":"public","version":"1.53","version_created":"2026-03-19T17:14:29.802874+11:00","relevant_disorders":["Abnormality of renal medullary morphology","HP:0025361; Renal cyst","HP:0000107"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"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":["AQDQ","CI-18"],"biotype":"protein_coding","hgnc_id":"HGNC:7711","gene_name":"NADH:ubiquinone oxidoreductase subunit S4","omim_gene":["602694"],"alias_name":["complex I 18kDa subunit"],"gene_symbol":"NDUFS4","hgnc_symbol":"NDUFS4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:52856463-52979168","ensembl_id":"ENSG00000164258"}},"GRch38":{"90":{"location":"5:53560633-53683340","ensembl_id":"ENSG00000164258"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"NDUFS4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11181577","11165261","16478720","10944442","24295889","22326555","27079373","15975579","19364667","27671926","33093004","29264396","34484776"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010"],"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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6556","gene_name":"leucine zipper and EF-hand containing transmembrane protein 1","omim_gene":["604407"],"alias_name":["Mdm38 homolog (yeast)"],"gene_symbol":"LETM1","hgnc_symbol":"LETM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:1813206-1857974","ensembl_id":"ENSG00000168924"}},"GRch38":{"90":{"location":"4:1811479-1856247","ensembl_id":"ENSG00000168924"}}},"hgnc_date_symbol_changed":"1998-05-13"},"entity_type":"gene","entity_name":"LETM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36055214"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089"],"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":438,"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":["CAR","SPG5C"],"biotype":"protein_coding","hgnc_id":"HGNC:11237","gene_name":"SPG7, paraplegin matrix AAA peptidase subunit","omim_gene":["602783"],"alias_name":["paraplegin"],"gene_symbol":"SPG7","hgnc_symbol":"SPG7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:89557325-89624176","ensembl_id":"ENSG00000197912"}},"GRch38":{"90":{"location":"16:89490917-89557768","ensembl_id":"ENSG00000197912"}}},"hgnc_date_symbol_changed":"1998-06-25"},"entity_type":"gene","entity_name":"SPG7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9635427","9635427","16534102","18799786","22571692","34500365","33598982","32548275","24727571"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Spastic paraplegia 7, autosomal recessive, MIM# 607259","Autosomal dominant optic atrophy, MONDO:0020250"],"mode_of_inheritance":"BOTH monoallelic and 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":438,"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":["LAS"],"biotype":"protein_coding","hgnc_id":"HGNC:16429","gene_name":"lipoic acid synthetase","omim_gene":["607031"],"alias_name":null,"gene_symbol":"LIAS","hgnc_symbol":"LIAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:39460620-39479273","ensembl_id":"ENSG00000121897"}},"GRch38":{"90":{"location":"4:39458587-39485109","ensembl_id":"ENSG00000121897"}}},"hgnc_date_symbol_changed":"2001-11-30"},"entity_type":"gene","entity_name":"LIAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22152680","24334290","26108146"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Hyperglycinaemia, lactic acidosis, and seizures, MIM# 614462"],"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":438,"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":["FLJ14640"],"biotype":"protein_coding","hgnc_id":"HGNC:25907","gene_name":"centrosomal protein 89","omim_gene":["615470"],"alias_name":null,"gene_symbol":"CEP89","hgnc_symbol":"CEP89","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:33369902-33462897","ensembl_id":"ENSG00000121289"}},"GRch38":{"90":{"location":"19:32875925-32971991","ensembl_id":"ENSG00000121289"}}},"hgnc_date_symbol_changed":"2011-05-06"},"entity_type":"gene","entity_name":"CEP89","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["23575228"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Mitochondrial complex IV deficiency"],"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":438,"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":["nudE","FLJ20101","NDE"],"biotype":"protein_coding","hgnc_id":"HGNC:17619","gene_name":"nudE neurodevelopment protein 1","omim_gene":["609449"],"alias_name":null,"gene_symbol":"NDE1","hgnc_symbol":"NDE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:15737124-15820210","ensembl_id":"ENSG00000072864"}},"GRch38":{"90":{"location":"16:15643267-15726353","ensembl_id":"ENSG00000072864"}}},"hgnc_date_symbol_changed":"2003-04-10"},"entity_type":"gene","entity_name":"NDE1","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":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"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":["XPAC","XP1"],"biotype":"protein_coding","hgnc_id":"HGNC:12814","gene_name":"XPA, DNA damage recognition and repair factor","omim_gene":["611153"],"alias_name":null,"gene_symbol":"XPA","hgnc_symbol":"XPA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:100437191-100459639","ensembl_id":"ENSG00000136936"}},"GRch38":{"90":{"location":"9:97674909-97697357","ensembl_id":"ENSG00000136936"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"XPA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["2234061","1372102"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Xeroderma pigmentosum, group A , MIM#278700","MONDO:0010210"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"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":"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":["HCAK1"],"biotype":"IG_C_gene","hgnc_id":"HGNC:5716","gene_name":"immunoglobulin kappa constant","omim_gene":["147200"],"alias_name":null,"gene_symbol":"IGKC","hgnc_symbol":"IGKC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:89156674-89157196","ensembl_id":"ENSG00000211592"}},"GRch38":{"90":{"location":"2:88857161-88857683","ensembl_id":"ENSG00000211592"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"IGKC","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["https://search.clinicalgenome.org/CCID:005121"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013576"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":222,"hash_id":null,"name":"Predominantly Antibody Deficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause predominantly antibody deficiency, including:\r\n- Agammaglobulinemia\r\n- Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia \r\n- CVID Phenotype\r\n- Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype\r\n- Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM\r\n- Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.4","version_created":"2025-09-11T18:11:50.640122+10:00","relevant_disorders":["Decreased immunoglobulin level","HP:0041078"],"stats":{"number_of_genes":58,"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":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"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":["BSAP"],"biotype":"protein_coding","hgnc_id":"HGNC:8619","gene_name":"paired box 5","omim_gene":["167414"],"alias_name":["B-cell lineage specific activator"],"gene_symbol":"PAX5","hgnc_symbol":"PAX5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:36833272-37034103","ensembl_id":"ENSG00000196092"}},"GRch38":{"90":{"location":"9:36833275-37034185","ensembl_id":"ENSG00000196092"}}},"hgnc_date_symbol_changed":"1992-11-03"},"entity_type":"gene","entity_name":"PAX5","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 35947077"],"evidence":["Expert Review Amber","Literature","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neurodevelopmental disorder MONDO:0700092, PAX5-related","Hypogammaglobulinaemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":222,"hash_id":null,"name":"Predominantly Antibody Deficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause predominantly antibody deficiency, including:\r\n- Agammaglobulinemia\r\n- Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia \r\n- CVID Phenotype\r\n- Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype\r\n- Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM\r\n- Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.4","version_created":"2025-09-11T18:11:50.640122+10:00","relevant_disorders":["Decreased immunoglobulin level","HP:0041078"],"stats":{"number_of_genes":58,"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":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"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":["NUP75","FLJ12549"],"biotype":"protein_coding","hgnc_id":"HGNC:8734","gene_name":"nucleoporin 85","omim_gene":["170285"],"alias_name":null,"gene_symbol":"NUP85","hgnc_symbol":"NUP85","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:73201754-73231853","ensembl_id":"ENSG00000125450"}},"GRch38":{"90":{"location":"17:75205659-75235758","ensembl_id":"ENSG00000125450"}}},"hgnc_date_symbol_changed":"2005-11-03"},"entity_type":"gene","entity_name":"NUP85","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["34170319","30179222"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Intellectual disability"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"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."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:14937","gene_name":"phosphatidylinositol glycan anchor biosynthesis class S","omim_gene":["610271"],"alias_name":["GPI transamidase subunit"],"gene_symbol":"PIGS","hgnc_symbol":"PIGS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:26880401-26898890","ensembl_id":"ENSG00000087111"}},"GRch38":{"90":{"location":"17:28553383-28571872","ensembl_id":"ENSG00000087111"}}},"hgnc_date_symbol_changed":"2001-03-27"},"entity_type":"gene","entity_name":"PIGS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30269814"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Glycosylphosphatidylinositol biosynthesis defect 18, MIM#\t618143"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"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."},{"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":["h-vps45","H1"],"biotype":"protein_coding","hgnc_id":"HGNC:14579","gene_name":"vacuolar protein sorting 45 homolog","omim_gene":["610035"],"alias_name":null,"gene_symbol":"VPS45","hgnc_symbol":"VPS45","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:150039369-150117505","ensembl_id":"ENSG00000136631"}},"GRch38":{"90":{"location":"1:150067293-150145327","ensembl_id":"ENSG00000136631"}}},"hgnc_date_symbol_changed":"2006-12-19"},"entity_type":"gene","entity_name":"VPS45","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Neutropenia, severe congenital, 5, autosomal recessive","OMIM #615285"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"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."},{"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":["KIAA1620"],"biotype":"protein_coding","hgnc_id":"HGNC:13797","gene_name":"periaxin","omim_gene":["605725"],"alias_name":null,"gene_symbol":"PRX","hgnc_symbol":"PRX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:40899675-40919273","ensembl_id":"ENSG00000105227"}},"GRch38":{"90":{"location":"19:40393768-40413366","ensembl_id":"ENSG00000105227"}}},"hgnc_date_symbol_changed":"2001-02-15"},"entity_type":"gene","entity_name":"PRX","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":["Charcot-Marie-Tooth disease, type 4F, MIM#614895"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"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."},{"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":["MOZ","ZC2HC6A"],"biotype":"protein_coding","hgnc_id":"HGNC:13013","gene_name":"lysine acetyltransferase 6A","omim_gene":["601408"],"alias_name":["Monocytic leukemia zinc finger protein"],"gene_symbol":"KAT6A","hgnc_symbol":"KAT6A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:41786997-41909508","ensembl_id":"ENSG00000083168"}},"GRch38":{"90":{"location":"8:41929479-42051990","ensembl_id":"ENSG00000083168"}}},"hgnc_date_symbol_changed":"2011-07-21"},"entity_type":"gene","entity_name":"KAT6A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["https://search.clinicalgenome.org/CCID:005173"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["syndromic intellectual disability MONDO:0000508"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. 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Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"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."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:29150","gene_name":"disco interacting protein 2 homolog C","omim_gene":["611380"],"alias_name":null,"gene_symbol":"DIP2C","hgnc_symbol":"DIP2C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:320130-735683","ensembl_id":"ENSG00000151240"}},"GRch38":{"90":{"location":"10:274190-689668","ensembl_id":"ENSG00000151240"}}},"hgnc_date_symbol_changed":"2006-01-13"},"entity_type":"gene","entity_name":"DIP2C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38421105"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO#0700092), DIP2C-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"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."},{"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":["HUPF1","KIAA0221","NORF1","pNORF1","smg-2"],"biotype":"protein_coding","hgnc_id":"HGNC:9962","gene_name":"UPF1, RNA helicase and ATPase","omim_gene":["601430"],"alias_name":["UP Frameshift 1","smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"],"gene_symbol":"UPF1","hgnc_symbol":"UPF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:18942747-18979045","ensembl_id":"ENSG00000005007"}},"GRch38":{"90":{"location":"19:18831938-18868236","ensembl_id":"ENSG00000005007"}}},"hgnc_date_symbol_changed":"2006-02-07"},"entity_type":"gene","entity_name":"UPF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33057194"],"evidence":["Expert Review Green","Literature"],"phenotypes":["neurodevelopmental disorder, MONDO:0700092, UPF1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"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."},{"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":["KIAA1084"],"biotype":"protein_coding","hgnc_id":"HGNC:23783","gene_name":"zinc finger protein 507","omim_gene":null,"alias_name":null,"gene_symbol":"ZNF507","hgnc_symbol":"ZNF507","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:32836500-32878573","ensembl_id":"ENSG00000168813"}},"GRch38":{"90":{"location":"19:32345594-32387667","ensembl_id":"ENSG00000168813"}}},"hgnc_date_symbol_changed":"2003-12-10"},"entity_type":"gene","entity_name":"ZNF507","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"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."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne 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CREB3-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"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":["RCNC1","RCNCa","CNG1","RP49"],"biotype":"protein_coding","hgnc_id":"HGNC:2148","gene_name":"cyclic nucleotide gated channel alpha 1","omim_gene":["123825"],"alias_name":null,"gene_symbol":"CNGA1","hgnc_symbol":"CNGA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:47937994-48018689","ensembl_id":"ENSG00000198515"}},"GRch38":{"90":{"location":"4:47935977-48016672","ensembl_id":"ENSG00000198515"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CNGA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33633220","32705276","30652268","20301590","7479749"],"evidence":["Expert Review Green","Royal Melbourne 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Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"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":["MTBT1","tau","PPND","FTDP-17","TAU","MSTD","MTBT2","FLJ31424","MGC138549","PPP1R103"],"biotype":"protein_coding","hgnc_id":"HGNC:6893","gene_name":"microtubule associated protein tau","omim_gene":["157140"],"alias_name":["G protein beta1/gamma2 subunit-interacting factor 1","microtubule-associated protein tau, isoform 4","protein phosphatase 1, regulatory subunit 103"],"gene_symbol":"MAPT","hgnc_symbol":"MAPT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:43971748-44105700","ensembl_id":"ENSG00000186868"}},"GRch38":{"90":{"location":"17:45894382-46028334","ensembl_id":"ENSG00000186868"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MAPT","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["17319286","15883319"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Dementia, frontotemporal, with or without parkinsonism MIM#600274"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"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":["CSA"],"biotype":"protein_coding","hgnc_id":"HGNC:3439","gene_name":"ERCC excision repair 8, CSA ubiquitin ligase complex subunit","omim_gene":["609412"],"alias_name":null,"gene_symbol":"ERCC8","hgnc_symbol":"ERCC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:60169658-60240900","ensembl_id":"ENSG00000049167"}},"GRch38":{"90":{"location":"5:60873831-60945073","ensembl_id":"ENSG00000049167"}}},"hgnc_date_symbol_changed":"1995-02-07"},"entity_type":"gene","entity_name":"ERCC8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Cockayne syndrome, type A MIM#216400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"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":["UNC45"],"biotype":"protein_coding","hgnc_id":"HGNC:14304","gene_name":"unc-45 myosin chaperone B","omim_gene":["611220"],"alias_name":null,"gene_symbol":"UNC45B","hgnc_symbol":"UNC45B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:33474836-33516364","ensembl_id":"ENSG00000141161"}},"GRch38":{"90":{"location":"17:35147817-35189345","ensembl_id":"ENSG00000141161"}}},"hgnc_date_symbol_changed":"2005-11-17"},"entity_type":"gene","entity_name":"UNC45B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33217308","31852522"],"evidence":["Expert Review Green","Other","Expert Review Green","Literature"],"phenotypes":["Myofibrillar myopathy 11 (MIM#619178)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3071,"hash_id":null,"name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.65","version_created":"2026-01-21T10:59:30.179226+11:00","relevant_disorders":["Limb-girdle muscular dystrophy","MONDO:0016971; Proximal muscle weakness","HP:0003701; Distal myopathy MONDO:0018949"],"stats":{"number_of_genes":102,"number_of_strs":10,"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":["ABC16","SPGP","PFIC-2","PGY4"],"biotype":"protein_coding","hgnc_id":"HGNC:42","gene_name":"ATP binding cassette subfamily B member 11","omim_gene":["603201"],"alias_name":["ABC member 16, MDR/TAP subfamily"],"gene_symbol":"ABCB11","hgnc_symbol":"ABCB11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:169779448-169887832","ensembl_id":"ENSG00000073734"}},"GRch38":{"90":{"location":"2:168922938-169031322","ensembl_id":"ENSG00000073734"}}},"hgnc_date_symbol_changed":"1998-09-25"},"entity_type":"gene","entity_name":"ABCB11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9806540"],"evidence":["Expert Review Green"],"phenotypes":["progressive familial intrahepatic cholestasis type 2 MONDO:0011156","Disorders of bile acid metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3077,"hash_id":null,"name":"Haem degradation and bilirubin metabolism defects","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause disorders of tetrapyrroles, including porphyria and disorders of bilirubin metabolism and biliary transport. \r\n\r\nThis panel is part of the Metabolic Disorders Superpanl. It was developed and maintained by RMH, and is a consensus panel used by VCGS.","status":"public","version":"0.20","version_created":"2026-02-22T15:38:52.606788+11:00","relevant_disorders":["Porphyria","MONDO:0037939;Abnormal circulating porphyrin concentration","HP:0010472;Hyperbilirubinemia","HP:0002904"],"stats":{"number_of_genes":25,"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":["SF","F-TCF","HGFB","HPTA"],"biotype":"protein_coding","hgnc_id":"HGNC:4893","gene_name":"hepatocyte growth factor","omim_gene":["142409"],"alias_name":["hepatopoietin A","fibroblast-derived tumor cytotoxic factor","scatter factor","lung fibroblast-derived mitogen"],"gene_symbol":"HGF","hgnc_symbol":"HGF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:81328322-81399754","ensembl_id":"ENSG00000019991"}},"GRch38":{"90":{"location":"7:81699006-81770438","ensembl_id":"ENSG00000019991"}}},"hgnc_date_symbol_changed":"1991-06-07"},"entity_type":"gene","entity_name":"HGF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18564920"],"evidence":["Expert Review Green","Literature","Expert list"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3098,"hash_id":null,"name":"Lymphoedema","disease_group":"Cardiovascular disorders","disease_sub_group":"Lymphatic Disorders","description":"The panel contains genes associated with nonsyndromic and syndromic lymphoedema.","status":"public","version":"0.32","version_created":"2026-02-06T22:04:55.315713+11:00","relevant_disorders":["Lymphedema","HP:0001004"],"stats":{"number_of_genes":59,"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":["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":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leber congenital amaurosis 2, 204100 (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":["COD2","KIAA1134"],"biotype":"protein_coding","hgnc_id":"HGNC:18621","gene_name":"component of oligomeric golgi complex 6","omim_gene":["606977"],"alias_name":null,"gene_symbol":"COG6","hgnc_symbol":"COG6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:40229764-40365802","ensembl_id":"ENSG00000133103"}},"GRch38":{"90":{"location":"13:39655627-39791665","ensembl_id":"ENSG00000133103"}}},"hgnc_date_symbol_changed":"2002-05-09"},"entity_type":"gene","entity_name":"COG6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Congenital disorder of glycosylation, type IIl, 614576 (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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3606","gene_name":"fructose-bisphosphatase 1","omim_gene":["611570"],"alias_name":null,"gene_symbol":"FBP1","hgnc_symbol":"FBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:97365415-97402531","ensembl_id":"ENSG00000165140"}},"GRch38":{"90":{"location":"9:94603133-94640249","ensembl_id":"ENSG00000165140"}}},"hgnc_date_symbol_changed":"1993-08-19"},"entity_type":"gene","entity_name":"FBP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Fructose-1,6-bisphosphatase deficiency, 229700 (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":["FKHL20"],"biotype":"protein_coding","hgnc_id":"HGNC:12765","gene_name":"forkhead box N1","omim_gene":["600838"],"alias_name":null,"gene_symbol":"FOXN1","hgnc_symbol":"FOXN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:26833261-26865914","ensembl_id":"ENSG00000109101"}},"GRch38":{"90":{"location":"17:28506243-28538896","ensembl_id":"ENSG00000109101"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"FOXN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (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":["PPI5PIV","CORS1","pharbin"],"biotype":"protein_coding","hgnc_id":"HGNC:21474","gene_name":"inositol polyphosphate-5-phosphatase E","omim_gene":["613037"],"alias_name":null,"gene_symbol":"INPP5E","hgnc_symbol":"INPP5E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139323071-139334274","ensembl_id":"ENSG00000148384"}},"GRch38":{"90":{"location":"9:136428619-136439823","ensembl_id":"ENSG00000148384"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"INPP5E","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Joubert syndrome 1, 213300 (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":[],"biotype":"protein_coding","hgnc_id":"HGNC:8857","gene_name":"peroxisomal biogenesis factor 16","omim_gene":["603360"],"alias_name":null,"gene_symbol":"PEX16","hgnc_symbol":"PEX16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:45931220-45940363","ensembl_id":"ENSG00000121680"}},"GRch38":{"90":{"location":"11:45909669-45918812","ensembl_id":"ENSG00000121680"}}},"hgnc_date_symbol_changed":"1999-04-07"},"entity_type":"gene","entity_name":"PEX16","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Peroxisome biogenesis disorder 8A, (Zellweger), 614876"],"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":["FLJ20152","JK1"],"biotype":"protein_coding","hgnc_id":"HGNC:25964","gene_name":"reticulophagy regulator 1","omim_gene":["613114"],"alias_name":null,"gene_symbol":"RETREG1","hgnc_symbol":"RETREG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:16473147-16617167","ensembl_id":"ENSG00000154153"}},"GRch38":{"90":{"location":"5:16473038-16617058","ensembl_id":"ENSG00000154153"}}},"hgnc_date_symbol_changed":"2017-03-16"},"entity_type":"gene","entity_name":"RETREG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (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":["LFB3","VHNF1","HNF1beta","MODY5"],"biotype":null,"hgnc_id":"HGNC:11630","gene_name":"HNF1 homeobox B","omim_gene":["189907"],"alias_name":null,"gene_symbol":"HNF1B","hgnc_symbol":"HNF1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:36046435-36105237","ensembl_id":"ENSG00000108753"}},"GRch38":{"90":{"location":"17:37686432-37745247","ensembl_id":"ENSG00000275410"}}},"hgnc_date_symbol_changed":"2007-08-24"},"entity_type":"gene","entity_name":"HNF1B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Renal cysts and diabetes syndrome 137920 AD"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.410","version_created":"2026-04-06T10:52:55.877866+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"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":"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":["SLC25A8"],"biotype":"protein_coding","hgnc_id":"HGNC:12518","gene_name":"uncoupling protein 2","omim_gene":["601693"],"alias_name":null,"gene_symbol":"UCP2","hgnc_symbol":"UCP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:73685712-73694352","ensembl_id":"ENSG00000175567"}},"GRch38":{"90":{"location":"11:73974667-73983307","ensembl_id":"ENSG00000175567"}}},"hgnc_date_symbol_changed":"1997-07-11"},"entity_type":"gene","entity_name":"UCP2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Hyperinsulinism"],"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":["jdf2","p528","D15F37S1"],"biotype":"protein_coding","hgnc_id":"HGNC:4868","gene_name":"HECT and RLD domain containing E3 ubiquitin protein ligase 2","omim_gene":["605837"],"alias_name":null,"gene_symbol":"HERC2","hgnc_symbol":"HERC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:28356186-28567298","ensembl_id":"ENSG00000128731"}},"GRch38":{"90":{"location":"15:28111040-28322152","ensembl_id":"ENSG00000128731"}}},"hgnc_date_symbol_changed":"1999-01-07"},"entity_type":"gene","entity_name":"HERC2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Autism spectrum disorder"],"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":["FLJ20069","ORF1","JBTS3"],"biotype":"protein_coding","hgnc_id":"HGNC:21575","gene_name":"Abelson helper integration site 1","omim_gene":["608894"],"alias_name":["Jouberin"],"gene_symbol":"AHI1","hgnc_symbol":"AHI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:135604670-135818914","ensembl_id":"ENSG00000135541"}},"GRch38":{"90":{"location":"6:135283532-135497776","ensembl_id":"ENSG00000135541"}}},"hgnc_date_symbol_changed":"2003-08-22"},"entity_type":"gene","entity_name":"AHI1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Joubert syndrome-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":[],"biotype":"protein_coding","hgnc_id":"HGNC:9024","gene_name":"plakophilin 2","omim_gene":["602861"],"alias_name":null,"gene_symbol":"PKP2","hgnc_symbol":"PKP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:32943679-33049774","ensembl_id":"ENSG00000057294"}},"GRch38":{"90":{"location":"12:32790745-32896840","ensembl_id":"ENSG00000057294"}}},"hgnc_date_symbol_changed":"1997-08-28"},"entity_type":"gene","entity_name":"PKP2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category B gene"],"phenotypes":["Arrhythmogenic right ventricular dysplasia 9"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:870","gene_name":"ATPase copper transporting beta","omim_gene":["606882"],"alias_name":["Wilson disease","copper pump 2","copper-transporting ATPase 2"],"gene_symbol":"ATP7B","hgnc_symbol":"ATP7B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:52506809-52585630","ensembl_id":"ENSG00000123191"}},"GRch38":{"90":{"location":"13:51930436-52012125","ensembl_id":"ENSG00000123191"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ATP7B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Wilson disease"],"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":["DUP","RIS2"],"biotype":"protein_coding","hgnc_id":"HGNC:24576","gene_name":"chromatin licensing and DNA replication factor 1","omim_gene":["605525"],"alias_name":null,"gene_symbol":"CDT1","hgnc_symbol":"CDT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:88869621-88875666","ensembl_id":"ENSG00000167513"}},"GRch38":{"90":{"location":"16:88803213-88809258","ensembl_id":"ENSG00000167513"}}},"hgnc_date_symbol_changed":"2006-05-25"},"entity_type":"gene","entity_name":"CDT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21358632","21358631","33338304","22333897"],"evidence":["Expert Review Green","BabySeq Category C gene"],"phenotypes":["Meier-Gorlin syndrome 4, MIM# 613804","MONDO:0013431"],"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":["TAP","TABP","ABP-278","FH1"],"biotype":"protein_coding","hgnc_id":"HGNC:3755","gene_name":"filamin B","omim_gene":["603381"],"alias_name":["actin binding protein 278","beta filamin"],"gene_symbol":"FLNB","hgnc_symbol":"FLNB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:57994127-58157982","ensembl_id":"ENSG00000136068"}},"GRch38":{"90":{"location":"3:58008400-58172251","ensembl_id":"ENSG00000136068"}}},"hgnc_date_symbol_changed":"1997-06-20"},"entity_type":"gene","entity_name":"FLNB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","UKGTN","Expert Review Green"],"phenotypes":["Spondylocarpotarsal synostosis syndrome (includes clefting), BIALLELIC, autosomal or pseudoautosomal, 272460","Atelosteogenesis, type I (includes clefting), MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 108720","Atelosteogenesis, type III MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown (includes clefting), 108721","Larsen syndrome (includes clefting) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, 150250","Orofacial Clefting with skeletal features","Skeletal dysplasia with midline cleft palate"],"mode_of_inheritance":"BOTH monoallelic and 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":["M8-9","APT6M8-9","ATP6M8-9","PRR","RENR"],"biotype":"protein_coding","hgnc_id":"HGNC:18305","gene_name":"ATPase H+ transporting accessory protein 2","omim_gene":["300556"],"alias_name":["prorenin receptor","renin receptor"],"gene_symbol":"ATP6AP2","hgnc_symbol":"ATP6AP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:40440146-40465889","ensembl_id":"ENSG00000182220"}},"GRch38":{"90":{"location":"X:40579372-40606848","ensembl_id":"ENSG00000182220"}}},"hgnc_date_symbol_changed":"2003-08-29"},"entity_type":"gene","entity_name":"ATP6AP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29127204","29388887"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Congenital disorder of glycosylation, type IIr, MIM#\t301045"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3400,"hash_id":null,"name":"Liver Failure_Paediatric","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause liver failure in children.\r\n\r\nPlease also consider using the Cholestasis panel if clinically indicated.","status":"public","version":"1.33","version_created":"2026-01-08T17:48:33.703909+11:00","relevant_disorders":["Liver failure","HP:0001399"],"stats":{"number_of_genes":68,"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":[]},{"gene_data":{"alias":["DESP4","ERG25"],"biotype":"protein_coding","hgnc_id":"HGNC:10545","gene_name":"methylsterol monooxygenase 1","omim_gene":["607545"],"alias_name":null,"gene_symbol":"MSMO1","hgnc_symbol":"MSMO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:166248775-166264312","ensembl_id":"ENSG00000052802"}},"GRch38":{"90":{"location":"4:165327623-165343160","ensembl_id":"ENSG00000052802"}}},"hgnc_date_symbol_changed":"2011-09-01"},"entity_type":"gene","entity_name":"MSMO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27604308","21285510","24144731","33161406","28673550"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834","Disorders of the metabolism of sterols","MONDO:0014793"],"mode_of_inheritance":"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":["FLJ44734","IGF-II"],"biotype":"protein_coding","hgnc_id":"HGNC:5466","gene_name":"insulin like growth factor 2","omim_gene":["147470"],"alias_name":["somatomedin A","preptin"],"gene_symbol":"IGF2","hgnc_symbol":"IGF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:2150342-2170833","ensembl_id":"ENSG00000167244"}},"GRch38":{"90":{"location":"11:2129112-2141238","ensembl_id":"ENSG00000167244"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"IGF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26154720","31544945"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Silver-Russell syndrome 3, MIM #616489"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"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":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PDLIM6","KIAA0613","ZASP"],"biotype":"protein_coding","hgnc_id":"HGNC:15710","gene_name":"LIM domain binding 3","omim_gene":["605906"],"alias_name":["cypher","oracle","Z-band alternatively spliced PDZ motif protein"],"gene_symbol":"LDB3","hgnc_symbol":"LDB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:88428206-88495825","ensembl_id":"ENSG00000122367"}},"GRch38":{"90":{"location":"10:86668449-86736068","ensembl_id":"ENSG00000122367"}}},"hgnc_date_symbol_changed":"2001-12-04"},"entity_type":"gene","entity_name":"LDB3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["17394203","26419279","16427346","14660611","14662268","27546599","25911362"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493","Cardiomyopathy, hypertrophic, 24 MIM#601493","Left ventricular noncompaction 3 MIM#601493","Myopathy, myofibrillar, 4 MIM#609452"],"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. 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":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"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":["CGI-18","ASC1p50","Em:AC022392.3"],"biotype":"protein_coding","hgnc_id":"HGNC:24268","gene_name":"activating signal cointegrator 1 complex subunit 1","omim_gene":["614215"],"alias_name":null,"gene_symbol":"ASCC1","hgnc_symbol":"ASCC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:73856278-73976892","ensembl_id":"ENSG00000138303"}},"GRch38":{"90":{"location":"10:72096032-72217134","ensembl_id":"ENSG00000138303"}}},"hgnc_date_symbol_changed":"2004-03-17"},"entity_type":"gene","entity_name":"ASCC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28749478","26924529","30327447"],"evidence":["Expert Review Green","Genomics England PanelApp","Literature"],"phenotypes":["Spinal muscular atrophy with congenital bone fractures 2 MIM#616867"],"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":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"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":["CDA-II","CDAII","HEMPAS"],"biotype":"protein_coding","hgnc_id":"HGNC:10702","gene_name":"Sec23 homolog B, coat complex II component","omim_gene":["610512"],"alias_name":null,"gene_symbol":"SEC23B","hgnc_symbol":"SEC23B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:18488137-18542059","ensembl_id":"ENSG00000101310"}},"GRch38":{"90":{"location":"20:18507493-18561415","ensembl_id":"ENSG00000101310"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"SEC23B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Dyserythropoietic anemia, congenital, type II , MIM#224100"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3829,"hash_id":null,"name":"IBMDx study","disease_group":"","disease_sub_group":"","description":"The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2,  BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.","status":"public","version":"0.42","version_created":"2026-03-19T18:45:41.236506+11:00","relevant_disorders":[],"stats":{"number_of_genes":101,"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":"Research","slug":"research","description":"Research panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0949","STK21","CRIK","CITK"],"biotype":"protein_coding","hgnc_id":"HGNC:1985","gene_name":"citron rho-interacting serine/threonine kinase","omim_gene":["605629"],"alias_name":["serine/threonine kinase 21"],"gene_symbol":"CIT","hgnc_symbol":"CIT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:120123595-120315095","ensembl_id":"ENSG00000122966"}},"GRch38":{"90":{"location":"12:119685790-119877291","ensembl_id":"ENSG00000122966"}}},"hgnc_date_symbol_changed":"1999-08-05"},"entity_type":"gene","entity_name":"CIT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27453578","27503289","27453579","27519304"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Microcephaly 17, primary, autosomal recessive, 617090 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10603","gene_name":"SCO1, cytochrome c oxidase assembly protein","omim_gene":["603644"],"alias_name":null,"gene_symbol":"SCO1","hgnc_symbol":"SCO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:10583654-10601692","ensembl_id":"ENSG00000133028"}},"GRch38":{"90":{"location":"17:10672474-10698375","ensembl_id":"ENSG00000133028"}}},"hgnc_date_symbol_changed":"1998-07-03"},"entity_type":"gene","entity_name":"SCO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["11013136","19295170","31352446","23878101"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Mitochondrial disease MONDO:0044970","Mitochondrial complex IV deficiency, nuclear type 4 MIM#619048"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PC-1","PCA1"],"biotype":"protein_coding","hgnc_id":"HGNC:3356","gene_name":"ectonucleotide pyrophosphatase/phosphodiesterase 1","omim_gene":["173335"],"alias_name":null,"gene_symbol":"ENPP1","hgnc_symbol":"ENPP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:132129156-132216295","ensembl_id":"ENSG00000197594"}},"GRch38":{"90":{"location":"6:131808016-131895155","ensembl_id":"ENSG00000197594"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"ENPP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Arterial calcification, generalized, of infancy, 1, MIM# 208000","Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","endocrine","vascular"],"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":["PROSC"],"biotype":"protein_coding","hgnc_id":"HGNC:9457","gene_name":"pyridoxal phosphate binding protein","omim_gene":["604436"],"alias_name":["proline synthetase co-transcribed (bacterial homolog)","proline synthetase cotranscribed homolog (bacterial)"],"gene_symbol":"PLPBP","hgnc_symbol":"PLPBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:37620111-37637283","ensembl_id":"ENSG00000147471"}},"GRch38":{"90":{"location":"8:37762593-37779767","ensembl_id":"ENSG00000147471"}}},"hgnc_date_symbol_changed":"2017-02-28"},"entity_type":"gene","entity_name":"PLPBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30668673"],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Epilepsy, early-onset, vitamin B6-dependent\t, MIM#617290"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"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:467","gene_name":"Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1","omim_gene":["300195"],"alias_name":null,"gene_symbol":"AMMECR1","hgnc_symbol":"AMMECR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:109437414-109683461","ensembl_id":"ENSG00000101935"}},"GRch38":{"90":{"location":"X:110194186-110440233","ensembl_id":"ENSG00000101935"}}},"hgnc_date_symbol_changed":"1998-06-22"},"entity_type":"gene","entity_name":"AMMECR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28089922","27811305","29193635"],"evidence":["Expert Review Green","Expert Review","Expert Review"],"phenotypes":["Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ22501","BLOC2S3"],"biotype":"protein_coding","hgnc_id":"HGNC:18817","gene_name":"HPS6, biogenesis of lysosomal organelles complex 2 subunit 3","omim_gene":["607522"],"alias_name":null,"gene_symbol":"HPS6","hgnc_symbol":"HPS6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:103825147-103827792","ensembl_id":"ENSG00000166189"}},"GRch38":{"90":{"location":"10:102065390-102068038","ensembl_id":"ENSG00000166189"}}},"hgnc_date_symbol_changed":"2004-02-04"},"entity_type":"gene","entity_name":"HPS6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12548288","19843503","17041891"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hermansky-Pudlak syndrome 6, MIM# 614075","MONDO:0013558"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["AGAS","ARGA","NAT7"],"biotype":"protein_coding","hgnc_id":"HGNC:17996","gene_name":"N-acetylglutamate synthase","omim_gene":["608300"],"alias_name":null,"gene_symbol":"NAGS","hgnc_symbol":"NAGS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42081914-42086431","ensembl_id":"ENSG00000161653"}},"GRch38":{"90":{"location":"17:44004546-44009063","ensembl_id":"ENSG00000161653"}}},"hgnc_date_symbol_changed":"2004-12-03"},"entity_type":"gene","entity_name":"NAGS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12594532","17421020","12459178","12754705","9877039"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["N-acetylglutamate synthase deficiency MIM#237310"],"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":["ATLD"],"biotype":"protein_coding","hgnc_id":"HGNC:7230","gene_name":"MRE11 homolog, double strand break repair nuclease","omim_gene":["600814"],"alias_name":["AT-like disease"],"gene_symbol":"MRE11","hgnc_symbol":"MRE11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:94152895-94227074","ensembl_id":"ENSG00000020922"}},"GRch38":{"90":{"location":"11:94415578-94493908","ensembl_id":"ENSG00000020922"}}},"hgnc_date_symbol_changed":"2016-09-30"},"entity_type":"gene","entity_name":"MRE11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10612394","11371508","15269180","22863007","24332946","21227757"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ataxia-telangiectasia-like disorder, MIM#604391"],"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:11429","gene_name":"syntaxin 11","omim_gene":["605014"],"alias_name":null,"gene_symbol":"STX11","hgnc_symbol":"STX11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:144471663-144509507","ensembl_id":"ENSG00000135604"}},"GRch38":{"90":{"location":"6:144150526-144188370","ensembl_id":"ENSG00000135604"}}},"hgnc_date_symbol_changed":"1998-11-30"},"entity_type":"gene","entity_name":"STX11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20486178","16582076"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552"],"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":["DKFZp434A128","CILD14","FAP59"],"biotype":"protein_coding","hgnc_id":"HGNC:25244","gene_name":"coiled-coil domain containing 39","omim_gene":["613798"],"alias_name":null,"gene_symbol":"CCDC39","hgnc_symbol":"CCDC39","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:180320646-180588793","ensembl_id":"ENSG00000145075"}},"GRch38":{"90":{"location":"3:180602858-180871005","ensembl_id":"ENSG00000145075"}}},"hgnc_date_symbol_changed":"2005-11-11"},"entity_type":"gene","entity_name":"CCDC39","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21131972"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ciliary dyskinesia, primary, 14 MIM#613807"],"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":["CITRIN","ARALAR2"],"biotype":"protein_coding","hgnc_id":"HGNC:10983","gene_name":"solute carrier family 25 member 13","omim_gene":["603859"],"alias_name":["mitochondrial aspartate glutamate carrier 2"],"gene_symbol":"SLC25A13","hgnc_symbol":"SLC25A13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:95749532-95951459","ensembl_id":"ENSG00000004864"}},"GRch38":{"90":{"location":"7:96120220-96322147","ensembl_id":"ENSG00000004864"}}},"hgnc_date_symbol_changed":"1999-07-13"},"entity_type":"gene","entity_name":"SLC25A13","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301360","21424115","11343052","11281457"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Citrullinemia, type II, neonatal-onset, MIM#605814"],"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":["U2AF1-RS2","URP","ZC3H22"],"biotype":"protein_coding","hgnc_id":"HGNC:23019","gene_name":"zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2","omim_gene":["300028"],"alias_name":null,"gene_symbol":"ZRSR2","hgnc_symbol":"ZRSR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:15808595-15841383","ensembl_id":"ENSG00000169249"}},"GRch38":{"90":{"location":"X:15790472-15823260","ensembl_id":"ENSG00000169249"}}},"hgnc_date_symbol_changed":"2006-09-26"},"entity_type":"gene","entity_name":"ZRSR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["38158857"],"evidence":["Literature","Expert Review Green","Expert Review Green","Literature"],"phenotypes":["Orofaciodigital syndrome XXI, MIM# 301132"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":4521,"hash_id":null,"name":"Hypogonadotropic hypogonadism","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.","status":"public","version":"0.111","version_created":"2026-04-04T15:37:44.052003+11:00","relevant_disorders":[],"stats":{"number_of_genes":83,"number_of_strs":0,"number_of_regions":1},"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":["DMK","DM1PK","MDPK","MT-PK"],"biotype":"protein_coding","hgnc_id":"HGNC:2933","gene_name":"DM1 protein kinase","omim_gene":["605377"],"alias_name":["dystrophia myotonica 1","DM protein kinase","myotonin protein kinase A","myotonic dystrophy associated protein kinase","thymopoietin homolog"],"gene_symbol":"DMPK","hgnc_symbol":"DMPK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:46272975-46285810","ensembl_id":"ENSG00000104936"}},"GRch38":{"90":{"location":"19:45769717-45782552","ensembl_id":"ENSG00000104936"}}},"hgnc_date_symbol_changed":"1997-10-10"},"entity_type":"str","entity_name":"DMPK_DM1_CTG","confidence_level":"3","penetrance":null,"publications":["20301344","29325606"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Myotonic dystrophy 1 MIM#160900"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CTG","chromosome":"19","grch37_coordinates":[46273463,46273522],"grch38_coordinates":[45770205,45770264],"normal_repeats":34,"pathogenic_repeats":50,"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}}]}