{"count":36059,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=198","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=196","results":[{"gene_data":{"alias":["hnRNPA1","hnRNP-A1","ALS20"],"biotype":"protein_coding","hgnc_id":"HGNC:5031","gene_name":"heterogeneous nuclear ribonucleoprotein A1","omim_gene":["164017"],"alias_name":null,"gene_symbol":"HNRNPA1","hgnc_symbol":"HNRNPA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:54673977-54680872","ensembl_id":"ENSG00000135486"}},"GRch38":{"90":{"location":"12:54280193-54287088","ensembl_id":"ENSG00000135486"}}},"hgnc_date_symbol_changed":"2007-08-16"},"entity_type":"gene","entity_name":"HNRNPA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23455423","34291734"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Amyotrophic lateral sclerosis 20 MIM#615426"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":25,"hash_id":null,"name":"Motor Neurone Disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. 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It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.75","version_created":"2026-03-30T10:17:46.701193+11:00","relevant_disorders":["Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205"],"stats":{"number_of_genes":77,"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":["SEF","IL17RLM","FLJ35755","IL-17RD"],"biotype":"protein_coding","hgnc_id":"HGNC:17616","gene_name":"interleukin 17 receptor D","omim_gene":["606807"],"alias_name":null,"gene_symbol":"IL17RD","hgnc_symbol":"IL17RD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:57124010-57204334","ensembl_id":"ENSG00000144730"}},"GRch38":{"90":{"location":"3:57089982-57170306","ensembl_id":"ENSG00000144730"}}},"hgnc_date_symbol_changed":"2003-07-07"},"entity_type":"gene","entity_name":"IL17RD","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23643382","32389901"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["disputed"],"panel":{"id":99,"hash_id":null,"name":"Differences of Sex Development","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.50","version_created":"2026-04-12T14:14:27.453739+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":142,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GDH"],"biotype":"protein_coding","hgnc_id":"HGNC:4335","gene_name":"glutamate dehydrogenase 1","omim_gene":["138130"],"alias_name":null,"gene_symbol":"GLUD1","hgnc_symbol":"GLUD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:88810243-88854623","ensembl_id":"ENSG00000148672"}},"GRch38":{"90":{"location":"10:87050486-87094866","ensembl_id":"ENSG00000148672"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GLUD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11214910","11297618"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Hyperinsulinism-hyperammonemia syndrome, MIM# 606762"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":118,"hash_id":null,"name":"Hyperinsulinism","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS and RMH.\r\n\r\nThis panel contains genes associated with hyperinsulinism (non-syndromic and syndromic). \r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital hyperinsulinism' panel V3.5, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nFor severe, persistent hypoglycaemia, consider also applying the Metabolic Disorders Superpanel, or more specifically, the Glycogen Storage Diseases and Fatty Acid Oxidation Defects panels.\r\n\r\nIf features of the following diagnoses, request alternate genetic test listed:\r\na) Beckwith-Wiedeman syndrome - request BWS methylation studies\r\nb) Congenital central hypoventilation syndrome - request PHOX2B poly-A expansion repeat testing","status":"public","version":"1.51","version_created":"2026-03-09T16:58:00.909830+11:00","relevant_disorders":["Hyperinsulinaemia","HP:0000842;Hypoglycemia","HP:0001943"],"stats":{"number_of_genes":35,"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"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["JBTS26","KATNIP"],"biotype":"protein_coding","hgnc_id":"HGNC:29068","gene_name":"KIAA0556","omim_gene":["616650"],"alias_name":null,"gene_symbol":"KIAA0556","hgnc_symbol":"KIAA0556","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:27561454-27791690","ensembl_id":"ENSG00000047578"}},"GRch38":{"90":{"location":"16:27550133-27780369","ensembl_id":"ENSG00000047578"}}},"hgnc_date_symbol_changed":"2006-08-25"},"entity_type":"gene","entity_name":"KIAA0556","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26714646","27245168"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Joubert syndrome 26, MIM# 616784"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"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":[]},{"gene_data":{"alias":["DKFZP762N2316","KIAA1803","Zfp462"],"biotype":"protein_coding","hgnc_id":"HGNC:21684","gene_name":"zinc finger protein 462","omim_gene":["617371"],"alias_name":null,"gene_symbol":"ZNF462","hgnc_symbol":"ZNF462","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:109625378-109775915","ensembl_id":"ENSG00000148143"}},"GRch38":{"90":{"location":"9:106863097-107013634","ensembl_id":"ENSG00000148143"}}},"hgnc_date_symbol_changed":"2004-01-05"},"entity_type":"gene","entity_name":"ZNF462","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28513610","31361404"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Weiss-Kruszka syndrome, MIM#618619"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PLS2","CP64","L-PLASTIN","LC64P"],"biotype":"protein_coding","hgnc_id":"HGNC:6528","gene_name":"lymphocyte cytosolic protein 1","omim_gene":["153430"],"alias_name":["plastin 2"],"gene_symbol":"LCP1","hgnc_symbol":"LCP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:46700055-46786006","ensembl_id":"ENSG00000136167"}},"GRch38":{"90":{"location":"13:46125920-46211871","ensembl_id":"ENSG00000136167"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"LCP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["38710235","40510848","41056520"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Combined immunodeficiency, MONDO:0015131, LCP1-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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ25351"],"biotype":"protein_coding","hgnc_id":"HGNC:14438","gene_name":"C2 calcium dependent domain containing 6","omim_gene":null,"alias_name":null,"gene_symbol":"C2CD6","hgnc_symbol":"C2CD6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:202352148-202483901","ensembl_id":"ENSG00000155754"}},"GRch38":{"90":{"location":"2:201487425-201619178","ensembl_id":"ENSG00000155754"}}},"hgnc_date_symbol_changed":"2017-02-13"},"entity_type":"gene","entity_name":"C2CD6","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["34919125","34998468","31985809"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Spermatogenic failure 68 , MIM#\t619805"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CLA20","AP47B","SPG52"],"biotype":"protein_coding","hgnc_id":"HGNC:575","gene_name":"adaptor related protein complex 4 sigma 1 subunit","omim_gene":["607243"],"alias_name":null,"gene_symbol":"AP4S1","hgnc_symbol":"AP4S1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:31494312-31562818","ensembl_id":"ENSG00000100478"}},"GRch38":{"90":{"location":"14:31025106-31096450","ensembl_id":"ENSG00000100478"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP4S1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21620353","25552650","32979048","32216065","31915823","30283821","27444738"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Spastic paraplegia 52, autosomal recessive, MIM# 614067"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OASIS"],"biotype":"protein_coding","hgnc_id":"HGNC:18856","gene_name":"cAMP responsive element binding protein 3 like 1","omim_gene":["616215"],"alias_name":["BBF-2 homolog (drosophila)"],"gene_symbol":"CREB3L1","hgnc_symbol":"CREB3L1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:46299212-46342972","ensembl_id":"ENSG00000157613"}},"GRch38":{"90":{"location":"11:46277661-46321422","ensembl_id":"ENSG00000157613"}}},"hgnc_date_symbol_changed":"2003-12-09"},"entity_type":"gene","entity_name":"CREB3L1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24079343","28817112","29936144","30657919"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Osteogenesis imperfecta, type XVI, MIM#616229"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CPX","CPXD","CHO2"],"biotype":"protein_coding","hgnc_id":"HGNC:3133","gene_name":"emopamil binding protein (sterol isomerase)","omim_gene":["300205"],"alias_name":["3-beta-hydroxysteroid-delta-8,delta-7-isomerase","Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)","sterol 8-isomerase"],"gene_symbol":"EBP","hgnc_symbol":"EBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48379546-48387104","ensembl_id":"ENSG00000147155"}},"GRch38":{"90":{"location":"X:48521158-48528716","ensembl_id":"ENSG00000147155"}}},"hgnc_date_symbol_changed":"2000-02-21"},"entity_type":"gene","entity_name":"EBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10391218","10391219"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Chondrodysplasia punctata, X-linked dominant MIM#302960","Conradi-Hunermann syndrome","MEND syndrome, MIM#300960"],"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":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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4341","gene_name":"glutamate-ammonia ligase","omim_gene":["138290"],"alias_name":["glutamine synthetase"],"gene_symbol":"GLUL","hgnc_symbol":"GLUL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:182350839-182361341","ensembl_id":"ENSG00000135821"}},"GRch38":{"90":{"location":"1:182381704-182392206","ensembl_id":"ENSG00000135821"}}},"hgnc_date_symbol_changed":"1988-11-30"},"entity_type":"gene","entity_name":"GLUL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16267323","21353613","33150193"],"evidence":["Expert Review Green","NHS GMS","Victorian Clinical Genetics Services"],"phenotypes":["Developmental and epileptic encephalopathy 116, MIM# 620806","Glutamine deficiency, congenital MIM#610015","disorder of amino acid metabolism"],"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. 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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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PRPC8","Prp8","hPrp8","SNRNP220"],"biotype":"protein_coding","hgnc_id":"HGNC:17340","gene_name":"pre-mRNA processing factor 8","omim_gene":["607300"],"alias_name":null,"gene_symbol":"PRPF8","hgnc_symbol":"PRPF8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:1553923-1588176","ensembl_id":"ENSG00000174231"}},"GRch38":{"90":{"location":"17:1650629-1684882","ensembl_id":"ENSG00000174231"}}},"hgnc_date_symbol_changed":"2001-12-11"},"entity_type":"gene","entity_name":"PRPF8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11468273","22039234"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Retinitis pigmentosa 13, MIM#600059","Neurodevelopmental disorder MONDO:0700092, PRPF8-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. 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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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RZRG","RORG","NR1F3","TOR"],"biotype":"protein_coding","hgnc_id":"HGNC:10260","gene_name":"RAR related orphan receptor C","omim_gene":["602943"],"alias_name":null,"gene_symbol":"RORC","hgnc_symbol":"RORC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:151778547-151804348","ensembl_id":"ENSG00000143365"}},"GRch38":{"90":{"location":"1:151806071-151831872","ensembl_id":"ENSG00000143365"}}},"hgnc_date_symbol_changed":"1995-04-13"},"entity_type":"gene","entity_name":"RORC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26160376","32960152"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency 42, MIM# 616622","Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, MONDO:0014710"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SP-B"],"biotype":"protein_coding","hgnc_id":"HGNC:10801","gene_name":"surfactant protein B","omim_gene":["178640"],"alias_name":null,"gene_symbol":"SFTPB","hgnc_symbol":"SFTPB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:85884437-85895864","ensembl_id":"ENSG00000168878"}},"GRch38":{"90":{"location":"2:85657314-85668741","ensembl_id":"ENSG00000168878"}}},"hgnc_date_symbol_changed":"1988-07-06"},"entity_type":"gene","entity_name":"SFTPB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8163685","8021783","10378403","10571948"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DXS1692E","TALLA-1","A15","CD231"],"biotype":"protein_coding","hgnc_id":"HGNC:11854","gene_name":"tetraspanin 7","omim_gene":["300096"],"alias_name":null,"gene_symbol":"TSPAN7","hgnc_symbol":"TSPAN7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:38420623-38548169","ensembl_id":"ENSG00000156298"}},"GRch38":{"90":{"location":"X:38561370-38688920","ensembl_id":"ENSG00000156298"}}},"hgnc_date_symbol_changed":"2005-03-21"},"entity_type":"gene","entity_name":"TSPAN7","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["10449641","12070254","10655063","25081361"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","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":["PKBG","RAC-gamma","PRKBG"],"biotype":"protein_coding","hgnc_id":"HGNC:393","gene_name":"AKT serine/threonine kinase 3","omim_gene":["611223"],"alias_name":["protein kinase B, gamma"],"gene_symbol":"AKT3","hgnc_symbol":"AKT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:243651535-244014381","ensembl_id":"ENSG00000117020"}},"GRch38":{"90":{"location":"1:243488233-243851079","ensembl_id":"ENSG00000117020"}}},"hgnc_date_symbol_changed":"1999-11-16"},"entity_type":"gene","entity_name":"AKT3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["22729224"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MIM#615937"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. 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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":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","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":["MGC14697","bA792D24.4","DAPIT"],"biotype":"protein_coding","hgnc_id":"HGNC:30889","gene_name":"up-regulated during skeletal muscle growth 5 homolog (mouse)","omim_gene":["615204"],"alias_name":["Diabetes Associated Protein in Insulin-sensitive Tissues"],"gene_symbol":"USMG5","hgnc_symbol":"USMG5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:105148798-105156223","ensembl_id":"ENSG00000173915"}},"GRch38":{"90":{"location":"10:103389041-103396466","ensembl_id":"ENSG00000173915"}}},"hgnc_date_symbol_changed":"2004-02-17"},"entity_type":"gene","entity_name":"USMG5","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["29917077","30240627","40014158"],"evidence":["Expert Review Amber","NHS GMS"],"phenotypes":["Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"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":[]},{"gene_data":{"alias":["hUNC18","MUNC18-1","UNC18","rbSec1"],"biotype":"protein_coding","hgnc_id":"HGNC:11444","gene_name":"syntaxin binding protein 1","omim_gene":["602926"],"alias_name":["syntaxin-binding protein 1"],"gene_symbol":"STXBP1","hgnc_symbol":"STXBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:130374544-130457460","ensembl_id":"ENSG00000136854"}},"GRch38":{"90":{"location":"9:127579370-127696027","ensembl_id":"ENSG00000136854"}}},"hgnc_date_symbol_changed":"1996-12-27"},"entity_type":"gene","entity_name":"STXBP1","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":["NFE1B"],"biotype":"protein_coding","hgnc_id":"HGNC:4171","gene_name":"GATA binding protein 2","omim_gene":["137295"],"alias_name":null,"gene_symbol":"GATA2","hgnc_symbol":"GATA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:128198270-128212028","ensembl_id":"ENSG00000179348"}},"GRch38":{"90":{"location":"3:128479427-128493185","ensembl_id":"ENSG00000179348"}}},"hgnc_date_symbol_changed":"1992-11-03"},"entity_type":"gene","entity_name":"GATA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26710799"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Emberger syndrome, MIM# 614038"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":233,"hash_id":null,"name":"Phagocyte Defects","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with abnormalities in phagocyte number, function or both. Susceptibility to infection from phagocytic dysfunction ranges from mild, recurrent skin infections to overwhelming, fatal systemic infection. Affected individuals are more susceptible to bacterial and fungal infections but have a normal resistance to viral infections. Most are diagnosed in infancy due to the severity of the infection or the unusual presentation of the organism, but some are diagnosed in adulthood. Includes:\r\n- Congenital Neutropenias\r\n- Defects of Motility\r\n- Defects of Respiratory Burst\r\n- Other Non-Lymphoid Defects\r\n\r\nUpdated with the 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).\r\n\r\nThis panel was merged with and replaces the Melbourne Genomics Immunology Flagship Neutrophil Defects gene panel (22/03/2021).","status":"public","version":"1.45","version_created":"2025-12-15T10:26:57.519304+11:00","relevant_disorders":["Unusual infection","HP:0032101"],"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"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KCIP-1","14-3-3-zeta"],"biotype":"protein_coding","hgnc_id":"HGNC:12855","gene_name":"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta","omim_gene":["601288"],"alias_name":["14-3-3 zeta","14-3-3 delta"],"gene_symbol":"YWHAZ","hgnc_symbol":"YWHAZ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:101928753-101965616","ensembl_id":"ENSG00000164924"}},"GRch38":{"90":{"location":"8:100916525-100953388","ensembl_id":"ENSG00000164924"}}},"hgnc_date_symbol_changed":"1993-09-20"},"entity_type":"gene","entity_name":"YWHAZ","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["36001342","31024343","35143101","35501409","22124272","26207352","40692796"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, YWHAZ-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status 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":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"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":["H17"],"biotype":"protein_coding","hgnc_id":"HGNC:26927","gene_name":"FAD dependent oxidoreductase domain containing 1","omim_gene":["613622"],"alias_name":null,"gene_symbol":"FOXRED1","hgnc_symbol":"FOXRED1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:126138950-126148026","ensembl_id":"ENSG00000110074"}},"GRch38":{"90":{"location":"11:126269055-126278131","ensembl_id":"ENSG00000110074"}}},"hgnc_date_symbol_changed":"2006-02-03"},"entity_type":"gene","entity_name":"FOXRED1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31434271","20818383","20858599"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Mitochondrial disease MONDO:0044970"],"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":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"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":["ARC92","ACID1","TCBAP0758","DKFZp434K0512"],"biotype":"protein_coding","hgnc_id":"HGNC:28845","gene_name":"mediator complex subunit 25","omim_gene":["610197"],"alias_name":null,"gene_symbol":"MED25","hgnc_symbol":"MED25","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:50321539-50342073","ensembl_id":"ENSG00000104973"}},"GRch38":{"90":{"location":"19:49818279-49838816","ensembl_id":"ENSG00000104973"}}},"hgnc_date_symbol_changed":"2004-11-09"},"entity_type":"gene","entity_name":"MED25","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25792360","32816121"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449","Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"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":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"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":["Kv1.3","MK3","HLK3","HPCN3"],"biotype":"protein_coding","hgnc_id":"HGNC:6221","gene_name":"potassium voltage-gated channel subfamily A member 3","omim_gene":["176263"],"alias_name":null,"gene_symbol":"KCNA3","hgnc_symbol":"KCNA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:111214310-111217655","ensembl_id":"ENSG00000177272"}},"GRch38":{"90":{"location":"1:110672465-110675033","ensembl_id":"ENSG00000177272"}}},"hgnc_date_symbol_changed":"1991-08-13"},"entity_type":"gene","entity_name":"KCNA3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37964487"],"evidence":["Expert Review Green","Other"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, KCNA3-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":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"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":["MPDS","CDGIE"],"biotype":"protein_coding","hgnc_id":"HGNC:3005","gene_name":"dolichyl-phosphate mannosyltransferase subunit 1, catalytic","omim_gene":["603503"],"alias_name":["DPM synthase complex, catalytic subunit"],"gene_symbol":"DPM1","hgnc_symbol":"DPM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:49551404-49575092","ensembl_id":"ENSG00000000419"}},"GRch38":{"90":{"location":"20:50934867-50958555","ensembl_id":"ENSG00000000419"}}},"hgnc_date_symbol_changed":"1999-02-23"},"entity_type":"gene","entity_name":"DPM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23856421","15669674","10642602"],"evidence":["Illumina TruGenome Clinical Sequencing Services","UKGTN","Radboud University Medical Center, Nijmegen","Expert Review Green","NHS GMS","Expert list","Emory Genetics Laboratory"],"phenotypes":["Congenital disorder of glycosylation, type Ie 608799"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.431","version_created":"2026-04-22T15:50:41.067259+10:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"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":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GlcAT-I"],"biotype":"protein_coding","hgnc_id":"HGNC:923","gene_name":"beta-1,3-glucuronyltransferase 3","omim_gene":["606374"],"alias_name":["glucuronosyltransferase I","galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"],"gene_symbol":"B3GAT3","hgnc_symbol":"B3GAT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:62382768-62389647","ensembl_id":"ENSG00000149541"}},"GRch38":{"90":{"location":"11:62615296-62622175","ensembl_id":"ENSG00000149541"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"B3GAT3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review Green","Radboud University Medical Center, Nijmegen","NHS GMS","Victorian Clinical Genetics Services"],"phenotypes":["Larsen alike phenotype  (skd incl)","Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.431","version_created":"2026-04-22T15:50:41.067259+10:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"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":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["retGC","RETGC-1","ROS-GC1","CYGD","LCA1"],"biotype":"protein_coding","hgnc_id":"HGNC:4689","gene_name":"guanylate cyclase 2D, retinal","omim_gene":["600179"],"alias_name":["rod outer segment membrane guanylate cyclase","retinal guanylate cyclase 1"],"gene_symbol":"GUCY2D","hgnc_symbol":"GUCY2D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7905912-7923657","ensembl_id":"ENSG00000132518"}},"GRch38":{"90":{"location":"17:8002594-8020339","ensembl_id":"ENSG00000132518"}}},"hgnc_date_symbol_changed":"1993-11-09"},"entity_type":"gene","entity_name":"GUCY2D","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Achromatopsia, Cone, and Cone-rod Dystrophy","Cone-rod dystrophy 6 (AD)","Leber congenital amaurosis 1, 204000","Retinitis pigmentosa"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":277,"hash_id":null,"name":"Retinitis pigmentosa","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.","status":"public","version":"0.245","version_created":"2026-03-28T13:33:23.781842+11:00","relevant_disorders":["Abnormal retinal morphology","HP:0000479"],"stats":{"number_of_genes":159,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11448","gene_name":"succinate-CoA ligase ADP-forming beta subunit","omim_gene":["603921"],"alias_name":["succinate--CoA ligase (ADP-forming)"],"gene_symbol":"SUCLA2","hgnc_symbol":"SUCLA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:48510622-48612125","ensembl_id":"ENSG00000136143"}},"GRch38":{"90":{"location":"13:47936491-48001354","ensembl_id":"ENSG00000136143"}}},"hgnc_date_symbol_changed":"1998-11-11"},"entity_type":"gene","entity_name":"SUCLA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)","Dystonia"],"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":null},{"gene_data":{"alias":["EFGM","GFM","EGF1"],"biotype":"protein_coding","hgnc_id":"HGNC:13780","gene_name":"G elongation factor mitochondrial 1","omim_gene":["606639"],"alias_name":null,"gene_symbol":"GFM1","hgnc_symbol":"GFM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:158362067-158410364","ensembl_id":"ENSG00000168827"}},"GRch38":{"90":{"location":"3:158644278-158692575","ensembl_id":"ENSG00000168827"}}},"hgnc_date_symbol_changed":"2004-11-25"},"entity_type":"gene","entity_name":"GFM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Combined oxidative phosphorylation deficiency 1","Mitochondrial Leukoencephalopathy","General Leukodystrophy & Mitochondrial Leukoencephalopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["20108356","17646629"],"evidence":["Expert list","Expert Review Amber","Expert list"],"phenotypes":["Spastic paraplegia 7, autosomal recessive 607259"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["BMD","BEST","RP50"],"biotype":"protein_coding","hgnc_id":"HGNC:12703","gene_name":"bestrophin 1","omim_gene":["607854"],"alias_name":["Best disease"],"gene_symbol":"BEST1","hgnc_symbol":"BEST1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:61717293-61732987","ensembl_id":"ENSG00000167995"}},"GRch38":{"90":{"location":"11:61949821-61965515","ensembl_id":"ENSG00000167995"}}},"hgnc_date_symbol_changed":"2006-10-18"},"entity_type":"gene","entity_name":"BEST1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Best macular dystrophy, 153700","Vitelliform macular dystrophy, adult-onset, 608161","Vitreoretinochoroidopathy, 193220","Bestrophinopathy, 611809","Maculopathy, bull's-eye","Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":303,"hash_id":null,"name":"Macular Dystrophy/Stargardt Disease","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.","status":"public","version":"0.60","version_created":"2026-03-31T16:05:02.510211+11:00","relevant_disorders":["Macular dystrophy","HP:0007754"],"stats":{"number_of_genes":39,"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":["FLJ32919","SPG33"],"biotype":"protein_coding","hgnc_id":"HGNC:26559","gene_name":"zinc finger FYVE-type containing 27","omim_gene":["610243"],"alias_name":["protrudin"],"gene_symbol":"ZFYVE27","hgnc_symbol":"ZFYVE27","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:99496878-99520664","ensembl_id":"ENSG00000155256"}},"GRch38":{"90":{"location":"10:97737121-97760907","ensembl_id":"ENSG00000155256"}}},"hgnc_date_symbol_changed":"2004-03-05"},"entity_type":"gene","entity_name":"ZFYVE27","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29980238","18606302","16826525"],"evidence":["Royal Melbourne Hospital","Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Spastic paraplegia 33, autosomal dominant, MIM#610244"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"panel":{"id":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC21981"],"biotype":"protein_coding","hgnc_id":"HGNC:23673","gene_name":"MAM domain containing 2","omim_gene":["612879"],"alias_name":null,"gene_symbol":"MAMDC2","hgnc_symbol":"MAMDC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:72658497-72841886","ensembl_id":"ENSG00000165072"}},"GRch38":{"90":{"location":"9:70043581-70226970","ensembl_id":"ENSG00000165072"}}},"hgnc_date_symbol_changed":"2003-12-01"},"entity_type":"gene","entity_name":"MAMDC2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["37503746"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Muscular Dystrophy MONDO:0020121, MAMDC2-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:5173","gene_name":"HRas proto-oncogene, GTPase","omim_gene":["190020"],"alias_name":null,"gene_symbol":"HRAS","hgnc_symbol":"HRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:532242-537287","ensembl_id":"ENSG00000174775"}},"GRch38":{"90":{"location":"11:532242-537287","ensembl_id":"ENSG00000174775"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HRAS","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":["21396583","16969868","16443854","16170316"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Costello syndrome 218040"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status 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":["CGI-92"],"biotype":"protein_coding","hgnc_id":"HGNC:19693","gene_name":"coenzyme Q4","omim_gene":["612898"],"alias_name":null,"gene_symbol":"COQ4","hgnc_symbol":"COQ4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:131084815-131096351","ensembl_id":"ENSG00000167113"}},"GRch38":{"90":{"location":"9:128322536-128334072","ensembl_id":"ENSG00000167113"}}},"hgnc_date_symbol_changed":"2003-01-10"},"entity_type":"gene","entity_name":"COQ4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Coenzyme Q10 deficiency, primary, 7, 616276 (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":["KIAA0596"],"biotype":"protein_coding","hgnc_id":"HGNC:29536","gene_name":"mitogen-activated protein kinase binding protein 1","omim_gene":["616786"],"alias_name":null,"gene_symbol":"MAPKBP1","hgnc_symbol":"MAPKBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:42066632-42120053","ensembl_id":"ENSG00000137802"}},"GRch38":{"90":{"location":"15:41774434-41827855","ensembl_id":"ENSG00000137802"}}},"hgnc_date_symbol_changed":"2005-07-21"},"entity_type":"gene","entity_name":"MAPKBP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Nephronophthisis 20, 617271 (3), Autosomal recessive"],"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":["RPC2","FLJ10388"],"biotype":"protein_coding","hgnc_id":"HGNC:30348","gene_name":"RNA polymerase III subunit B","omim_gene":["614366"],"alias_name":null,"gene_symbol":"POLR3B","hgnc_symbol":"POLR3B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:106751436-106903976","ensembl_id":"ENSG00000013503"}},"GRch38":{"90":{"location":"12:106357658-106510198","ensembl_id":"ENSG00000013503"}}},"hgnc_date_symbol_changed":"2004-04-21"},"entity_type":"gene","entity_name":"POLR3B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25339210","27512013","26113998"],"evidence":["Expert Review Green","Literature","Expert Review Green","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":["Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":"0.414","version_created":"2026-04-13T17:24:24.650771+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":[]},{"gene_data":{"alias":["FAST1"],"biotype":"protein_coding","hgnc_id":"HGNC:3814","gene_name":"forkhead box H1","omim_gene":["603621"],"alias_name":null,"gene_symbol":"FOXH1","hgnc_symbol":"FOXH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:145698795-145701718","ensembl_id":"ENSG00000160973"}},"GRch38":{"90":{"location":"8:144473412-144476335","ensembl_id":"ENSG00000160973"}}},"hgnc_date_symbol_changed":"1999-12-22"},"entity_type":"gene","entity_name":"FOXH1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Holoprosencephaly","No OMIM number"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3236,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.212","version_created":"2026-04-23T08:58:16.521667+10:00","relevant_disorders":["Hypopituitarism","HP:0040075"],"stats":{"number_of_genes":120,"number_of_strs":1,"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":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["dJ412I7.1","FLJ37974","RSPH6B","CILD11"],"biotype":"protein_coding","hgnc_id":"HGNC:21558","gene_name":"radial spoke head 4 homolog A","omim_gene":["612647"],"alias_name":null,"gene_symbol":"RSPH4A","hgnc_symbol":"RSPH4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:116937642-116954148","ensembl_id":"ENSG00000111834"}},"GRch38":{"90":{"location":"6:116616479-116632985","ensembl_id":"ENSG00000111834"}}},"hgnc_date_symbol_changed":"2009-02-17"},"entity_type":"gene","entity_name":"RSPH4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Ciliary dyskinesia, primary"],"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":["12R-LOX"],"biotype":"protein_coding","hgnc_id":"HGNC:430","gene_name":"arachidonate 12-lipoxygenase, 12R type","omim_gene":["603741"],"alias_name":null,"gene_symbol":"ALOX12B","hgnc_symbol":"ALOX12B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7975954-7991021","ensembl_id":"ENSG00000179477"}},"GRch38":{"90":{"location":"17:8072636-8087703","ensembl_id":"ENSG00000179477"}}},"hgnc_date_symbol_changed":"1998-07-22"},"entity_type":"gene","entity_name":"ALOX12B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Ichthyosis, congenital, autosomal recessive"],"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":["KIAA0912","SCKL5","MCPH9"],"biotype":"protein_coding","hgnc_id":"HGNC:29298","gene_name":"centrosomal protein 152","omim_gene":["613529"],"alias_name":["asterless"],"gene_symbol":"CEP152","hgnc_symbol":"CEP152","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:49005125-49103343","ensembl_id":"ENSG00000103995"}},"GRch38":{"90":{"location":"15:48712928-48811146","ensembl_id":"ENSG00000103995"}}},"hgnc_date_symbol_changed":"2005-12-01"},"entity_type":"gene","entity_name":"CEP152","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Seckel syndrome"],"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":["GAS","GALNAC6S"],"biotype":"protein_coding","hgnc_id":"HGNC:4122","gene_name":"galactosamine (N-acetyl)-6-sulfatase","omim_gene":["612222"],"alias_name":["Morquio syndrome","mucopolysaccharidosis type IVA"],"gene_symbol":"GALNS","hgnc_symbol":"GALNS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:88880142-88923378","ensembl_id":"ENSG00000141012"}},"GRch38":{"90":{"location":"16:88813734-88856970","ensembl_id":"ENSG00000141012"}}},"hgnc_date_symbol_changed":"1992-02-21"},"entity_type":"gene","entity_name":"GALNS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Mucopolysaccharidosis IVA"],"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":["GTPCH1","DYT5a"],"biotype":"protein_coding","hgnc_id":"HGNC:4193","gene_name":"GTP cyclohydrolase 1","omim_gene":["600225"],"alias_name":["dopa-responsive dystonia"],"gene_symbol":"GCH1","hgnc_symbol":"GCH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:55308726-55369570","ensembl_id":"ENSG00000131979"}},"GRch38":{"90":{"location":"14:54842008-54902852","ensembl_id":"ENSG00000131979"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"GCH1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category B gene"],"phenotypes":["Dystonia, dopa-responsive"],"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":["hDIA1","LFHL1"],"biotype":"protein_coding","hgnc_id":"HGNC:2876","gene_name":"diaphanous related formin 1","omim_gene":["602121"],"alias_name":null,"gene_symbol":"DIAPH1","hgnc_symbol":"DIAPH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:140894583-140998622","ensembl_id":"ENSG00000131504"}},"GRch38":{"90":{"location":"5:141515016-141619055","ensembl_id":"ENSG00000131504"}}},"hgnc_date_symbol_changed":"1998-03-17"},"entity_type":"gene","entity_name":"DIAPH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene"],"phenotypes":["Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900"],"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":["CGI-132"],"biotype":"protein_coding","hgnc_id":"HGNC:14048","gene_name":"mitochondrial ribosomal protein S16","omim_gene":["609204"],"alias_name":null,"gene_symbol":"MRPS16","hgnc_symbol":"MRPS16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:75006510-75012451","ensembl_id":"ENSG00000182180"}},"GRch38":{"90":{"location":"10:73248843-73252693","ensembl_id":"ENSG00000182180"}}},"hgnc_date_symbol_changed":"2001-02-28"},"entity_type":"gene","entity_name":"MRPS16","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Mitochondrial respiratory chain 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":[],"biotype":"protein_coding","hgnc_id":"HGNC:414","gene_name":"aldolase, fructose-bisphosphate A","omim_gene":["103850"],"alias_name":null,"gene_symbol":"ALDOA","hgnc_symbol":"ALDOA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:30064411-30081778","ensembl_id":"ENSG00000149925"}},"GRch38":{"90":{"location":"16:30053090-30070457","ensembl_id":"ENSG00000149925"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ALDOA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8598869","7331996","25392908"],"evidence":["Expert Review Green","Yorkshire and North East GLH","NHS GMS","Wessex and West Midlands GLH","North West GLH","London South GLH"],"phenotypes":["Glycogen storage disease XII , MIM#611881"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3366,"hash_id":null,"name":"Red cell disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.","status":"public","version":"1.52","version_created":"2026-03-28T15:18:36.006857+11:00","relevant_disorders":["Abnormal erythrocyte morphology","HP:0001877"],"stats":{"number_of_genes":116,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp586K0717","FIP1"],"biotype":"protein_coding","hgnc_id":"HGNC:19124","gene_name":"factor interacting with PAPOLA and CPSF1","omim_gene":["607686"],"alias_name":null,"gene_symbol":"FIP1L1","hgnc_symbol":"FIP1L1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:54243810-55161439","ensembl_id":"ENSG00000145216"}},"GRch38":{"90":{"location":"4:53377643-53460861","ensembl_id":"ENSG00000145216"}}},"hgnc_date_symbol_changed":"2003-03-03"},"entity_type":"gene","entity_name":"FIP1L1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NSW Health Pathology","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3437,"hash_id":null,"name":"Incidentalome_PREGEN_DRAFT","disease_group":"","disease_sub_group":"","description":"Imported to facilitate update work. Do not use while labeled as DRAFT","status":"public","version":"0.43","version_created":"2021-01-20T16:42:09.286633+11:00","relevant_disorders":[],"stats":{"number_of_genes":173,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kir4.1","Kir1.2"],"biotype":"protein_coding","hgnc_id":"HGNC:6256","gene_name":"potassium voltage-gated channel subfamily J member 10","omim_gene":["602208"],"alias_name":null,"gene_symbol":"KCNJ10","hgnc_symbol":"KCNJ10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:160007257-160040038","ensembl_id":"ENSG00000177807"}},"GRch38":{"90":{"location":"1:159998651-160070483","ensembl_id":"ENSG00000177807"}}},"hgnc_date_symbol_changed":"1996-07-26"},"entity_type":"gene","entity_name":"KCNJ10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19289823, 21849804, 11466414"],"evidence":["Expert Review Green"],"phenotypes":["EAST syndrome MONDO:0013005, SESAME syndrome, MIM# 612780","Disorders of magnesium metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3469,"hash_id":null,"name":"Metal Metabolism Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause inborn errors of molybdenum, copper, iron, manganese, zinc, selenium, and magnesium metabolism.  \r\nThis panel was based on the Genomics England/NHS Genomics Medicine Service 'Iron metabolism disorders' panel. It is part of the Metabolic Disorders Superpanel.","status":"public","version":"0.54","version_created":"2026-02-17T14:35:14.331246+11:00","relevant_disorders":["Abnormality of iron homeostasis","HP:0011031;Abnormal blood transition element cation concentration","HP:0011030"],"stats":{"number_of_genes":51,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ZnTL2","ZNT7"],"biotype":"protein_coding","hgnc_id":"HGNC:19306","gene_name":"solute carrier family 30 member 7","omim_gene":["611149"],"alias_name":null,"gene_symbol":"SLC30A7","hgnc_symbol":"SLC30A7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:101361632-101447309","ensembl_id":"ENSG00000162695"}},"GRch38":{"90":{"location":"1:100896076-100981753","ensembl_id":"ENSG00000162695"}}},"hgnc_date_symbol_changed":"2003-03-14"},"entity_type":"gene","entity_name":"SLC30A7","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["36821639"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["Ziegler-Huang syndrome, MIM# 620501"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":"1.103","version_created":"2026-04-22T15:49:55.410983+10:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"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":[]},{"gene_data":{"alias":["CLRP","CSNB1A"],"biotype":"protein_coding","hgnc_id":"HGNC:8082","gene_name":"nyctalopin","omim_gene":["300278"],"alias_name":null,"gene_symbol":"NYX","hgnc_symbol":"NYX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:41306687-41334963","ensembl_id":"ENSG00000188937"}},"GRch38":{"90":{"location":"X:41447434-41475710","ensembl_id":"ENSG00000188937"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"NYX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11062471","11062472","16670814","23714322","34064005","34165036"],"evidence":["Expert Review Green","Expert Review Green","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["Night blindness, congenital stationary (complete), 1A, X-linked, 310500"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3762,"hash_id":null,"name":"Congenital nystagmus","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with isolated or syndromic nystagmus presenting in infancy or early childhood.","status":"public","version":"1.24","version_created":"2026-01-26T13:26:36.043723+11:00","relevant_disorders":["Nystagmus HP:0000639"],"stats":{"number_of_genes":84,"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":["KIAA1283","VIP","K-CAP"],"biotype":"protein_coding","hgnc_id":"HGNC:23228","gene_name":"C3 and PZP like, alpha-2-macroglobulin domain containing 8","omim_gene":["608841"],"alias_name":null,"gene_symbol":"CPAMD8","hgnc_symbol":"CPAMD8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:17003758-17137625","ensembl_id":"ENSG00000160111"}},"GRch38":{"90":{"location":"19:16892947-17026815","ensembl_id":"ENSG00000160111"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"CPAMD8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32274568"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Anterior segment dysgenesis 8, MIM# 617319"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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":["BUBR1","MAD3L","Bub1A","SSK1"],"biotype":"protein_coding","hgnc_id":"HGNC:1149","gene_name":"BUB1 mitotic checkpoint serine/threonine kinase B","omim_gene":["602860"],"alias_name":null,"gene_symbol":"BUB1B","hgnc_symbol":"BUB1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:40453224-40513337","ensembl_id":"ENSG00000156970"}},"GRch38":{"90":{"location":"15:40161023-40221136","ensembl_id":"ENSG00000156970"}}},"hgnc_date_symbol_changed":"1998-03-25"},"entity_type":"gene","entity_name":"BUB1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18548531"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Mosaic variegated aneuploidy syndrome 1, MIM# 257300"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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":["ANM","STNT","TNT","TNTS","FLJ98147","MGC104241","NEM5"],"biotype":"protein_coding","hgnc_id":"HGNC:11948","gene_name":"troponin T1, slow skeletal type","omim_gene":["191041"],"alias_name":["slow skeletal muscle troponin T","troponin T1, skeletal, slow","nemaline myopathy type 5"],"gene_symbol":"TNNT1","hgnc_symbol":"TNNT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:55644162-55660722","ensembl_id":"ENSG00000105048"}},"GRch38":{"90":{"location":"19:55132794-55149354","ensembl_id":"ENSG00000105048"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"TNNT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10952871","32994279","32819427","31970803","31604653","29931346","31680123"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Nemaline myopathy 5, Amish type, MIM# 605355"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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":["FLJ10540","CT111"],"biotype":"protein_coding","hgnc_id":"HGNC:1161","gene_name":"centrosomal protein 55","omim_gene":["610000"],"alias_name":["cancer/testis antigen 111"],"gene_symbol":"CEP55","hgnc_symbol":"CEP55","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:95256389-95288849","ensembl_id":"ENSG00000138180"}},"GRch38":{"90":{"location":"10:93496632-93529092","ensembl_id":"ENSG00000138180"}}},"hgnc_date_symbol_changed":"2005-12-01"},"entity_type":"gene","entity_name":"CEP55","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28295209","28264986","30622327","32100459"],"evidence":["Expert Review Green","Genomics England PanelApp","Literature"],"phenotypes":["Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500","lethal CEP55-related syndromes"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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":["B56G","PR61G","B56gamma"],"biotype":"protein_coding","hgnc_id":"HGNC:9311","gene_name":"protein phosphatase 2 regulatory subunit B'gamma","omim_gene":["601645"],"alias_name":null,"gene_symbol":"PPP2R5C","hgnc_symbol":"PPP2R5C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:102228135-102394326","ensembl_id":"ENSG00000078304"}},"GRch38":{"90":{"location":"14:101761798-101927989","ensembl_id":"ENSG00000078304"}}},"hgnc_date_symbol_changed":"1996-05-08"},"entity_type":"gene","entity_name":"PPP2R5C","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["25972378"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Houge-Janssens syndrome 4, MIM# 621185"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6932","gene_name":"melanocortin 4 receptor","omim_gene":["155541"],"alias_name":null,"gene_symbol":"MC4R","hgnc_symbol":"MC4R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:58038564-58040001","ensembl_id":"ENSG00000166603"}},"GRch38":{"90":{"location":"18:60371110-60372775","ensembl_id":"ENSG00000166603"}}},"hgnc_date_symbol_changed":"1993-07-27"},"entity_type":"gene","entity_name":"MC4R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12646665","34238466","32805220"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Obesity (BMIQ20) MIM#618406"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":3764,"hash_id":null,"name":"Severe early-onset obesity","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with syndromic and non-syndromic causes of severe, early-onset obesity (weight >3 standard deviations above the mean, with onset before the age of 5 years).\r\n\r\nIf other growth parameters are affected, please consider the Overgrowth and the Macrocephaly_Megalencephaly panels.","status":"public","version":"1.32","version_created":"2026-04-20T20:39:13.285624+10:00","relevant_disorders":["Obesity","HP:0001513"],"stats":{"number_of_genes":59,"number_of_strs":0,"number_of_regions":3},"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":["RAYL","BBS19"],"biotype":"protein_coding","hgnc_id":"HGNC:18626","gene_name":"intraflagellar transport 27","omim_gene":["615870"],"alias_name":null,"gene_symbol":"IFT27","hgnc_symbol":"IFT27","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:37154246-37172300","ensembl_id":"ENSG00000100360"}},"GRch38":{"90":{"location":"22:36758202-36776256","ensembl_id":"ENSG00000100360"}}},"hgnc_date_symbol_changed":"2010-04-22"},"entity_type":"gene","entity_name":"IFT27","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24488770","30761183","26763875","25443296"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Bardet-Biedl syndrome 19, MIM#615996"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3764,"hash_id":null,"name":"Severe early-onset obesity","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with syndromic and non-syndromic causes of severe, early-onset obesity (weight >3 standard deviations above the mean, with onset before the age of 5 years).\r\n\r\nIf other growth parameters are affected, please consider the Overgrowth and the Macrocephaly_Megalencephaly panels.","status":"public","version":"1.32","version_created":"2026-04-20T20:39:13.285624+10:00","relevant_disorders":["Obesity","HP:0001513"],"stats":{"number_of_genes":59,"number_of_strs":0,"number_of_regions":3},"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":["TACI","CD267","IGAD2"],"biotype":"protein_coding","hgnc_id":"HGNC:18153","gene_name":"TNF receptor superfamily member 13B","omim_gene":["604907"],"alias_name":null,"gene_symbol":"TNFRSF13B","hgnc_symbol":"TNFRSF13B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:16832849-16875432","ensembl_id":"ENSG00000240505"}},"GRch38":{"90":{"location":"17:16929816-16972118","ensembl_id":"ENSG00000240505"}}},"hgnc_date_symbol_changed":"2002-05-22"},"entity_type":"gene","entity_name":"TNFRSF13B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31681265"],"evidence":["Expert Review Red","Mackenzie's Mission"],"phenotypes":["Immunodeficiency, common variable, 2, 240500 (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: 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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":["KIAA0243","LAM","hamartin"],"biotype":"protein_coding","hgnc_id":"HGNC:12362","gene_name":"TSC complex subunit 1","omim_gene":["605284"],"alias_name":["hamartin"],"gene_symbol":"TSC1","hgnc_symbol":"TSC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:135766735-135820020","ensembl_id":"ENSG00000165699"}},"GRch38":{"90":{"location":"9:132891348-132944633","ensembl_id":"ENSG00000165699"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"TSC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["20301399"],"evidence":["Expert Review Red","BabySeq Category A gene","BeginNGS"],"phenotypes":["Tuberous sclerosis 1, MIM#191100"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4329","gene_name":"glycine receptor beta","omim_gene":["138492"],"alias_name":null,"gene_symbol":"GLRB","hgnc_symbol":"GLRB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:157997209-158093242","ensembl_id":"ENSG00000109738"}},"GRch38":{"90":{"location":"4:157076057-157172090","ensembl_id":"ENSG00000109738"}}},"hgnc_date_symbol_changed":"1998-08-21"},"entity_type":"gene","entity_name":"GLRB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red","BeginNGS"],"phenotypes":["Hyperekplexia 2, autosomal recessive","Hyperekplexia 2, MIM#\t614619"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:16902","gene_name":"branched chain ketoacid dehydrogenase kinase","omim_gene":["614901"],"alias_name":null,"gene_symbol":"BCKDK","hgnc_symbol":"BCKDK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:31117428-31124110","ensembl_id":"ENSG00000103507"}},"GRch38":{"90":{"location":"16:31106107-31112791","ensembl_id":"ENSG00000103507"}}},"hgnc_date_symbol_changed":"2005-01-20"},"entity_type":"gene","entity_name":"BCKDK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Branched-chain keto acid dehydrogenase kinase deficiency, MIM#\t614923"],"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":["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":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Renal cysts and diabetes syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC26979","JBTS6","NPHP11"],"biotype":"protein_coding","hgnc_id":"HGNC:28396","gene_name":"transmembrane protein 67","omim_gene":["609884"],"alias_name":["Meckelin"],"gene_symbol":"TMEM67","hgnc_symbol":"TMEM67","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:94767072-94831462","ensembl_id":"ENSG00000164953"}},"GRch38":{"90":{"location":"8:93754844-93819234","ensembl_id":"ENSG00000164953"}}},"hgnc_date_symbol_changed":"2005-08-04"},"entity_type":"gene","entity_name":"TMEM67","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29891882","20232449","26092869","27336129"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["COACH syndrome 1 MIM#216360","Joubert syndrome 6 MIM#610688","Meckel syndrome 3 MIM#607361","Nephronophthisis 11 MIM#613550"],"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":["ACAD5"],"biotype":"protein_coding","hgnc_id":"HGNC:4189","gene_name":"glutaryl-CoA dehydrogenase","omim_gene":["608801"],"alias_name":null,"gene_symbol":"GCDH","hgnc_symbol":"GCDH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:13001840-13025021","ensembl_id":"ENSG00000105607"}},"GRch38":{"90":{"location":"19:12891026-12914207","ensembl_id":"ENSG00000105607"}}},"hgnc_date_symbol_changed":"1992-12-17"},"entity_type":"gene","entity_name":"GCDH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31788423","37020324"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Glutaric aciduria, type I, MIM#231670"],"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:12605","gene_name":"clarin 1","omim_gene":["606397"],"alias_name":null,"gene_symbol":"CLRN1","hgnc_symbol":"CLRN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:150643950-150690786","ensembl_id":"ENSG00000163646"}},"GRch38":{"90":{"location":"3:150926163-150972999","ensembl_id":"ENSG00000163646"}}},"hgnc_date_symbol_changed":"2006-11-23"},"entity_type":"gene","entity_name":"CLRN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23304067","35481838"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Usher syndrome, type 3A, MIM#276902"],"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":["THIL"],"biotype":"protein_coding","hgnc_id":"HGNC:93","gene_name":"acetyl-CoA acetyltransferase 1","omim_gene":["607809"],"alias_name":["acetoacetyl Coenzyme A thiolase"],"gene_symbol":"ACAT1","hgnc_symbol":"ACAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:107992243-108018503","ensembl_id":"ENSG00000075239"}},"GRch38":{"90":{"location":"11:108121516-108147776","ensembl_id":"ENSG00000075239"}}},"hgnc_date_symbol_changed":"1991-08-12"},"entity_type":"gene","entity_name":"ACAT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17236799","1715688"],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Alpha-methylacetoacetic aciduria, MIM#203750"],"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":["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":"Complete","mode_of_pathogenicity":null,"publications":["35892268","38366112","30245513"],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Arboleda-Tham syndrome, MIM# 616268"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4290,"hash_id":null,"name":"Speech apraxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Childhood apraxia of speech (CAS; synonymous with speech apraxia/dyspraxia or verbal apraxia/dyspraxia) is a non-progressive neurodevelopmental disorder with a primary presentation of speech planning and programming disorder.\r\n\r\nCAS involves difficulty producing sequences of sounds with accuracy and correct prosody, resulting in poor speech intelligibility. Individuals with CAS typically have very delayed development of first spoken words. Other common co-occurring features may include fine and gross motor impairment, language impairment, learning difficulties, intellectual disability, autism and attention deficit hyperactivity disorder. Other associated features may include hypotonia, seizures, and facial dysmorphism/dysmorphology.\r\n \r\nPMID: 38366112 summarises three gene discovery cohort studies of individuals with CAS. Diagnostic yield ranged between 26-42%.\r\n\r\nThe aetiology of CAS is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia and Ataxia panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Angela Morgan, Michael Hildebrand, Thomas Scerri, David Amor and team for their contribution to the development of this panel.","status":"public","version":"1.28","version_created":"2026-03-06T16:38:48.591739+11:00","relevant_disorders":[],"stats":{"number_of_genes":35,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SCA36"],"biotype":"protein_coding","hgnc_id":"HGNC:15911","gene_name":"NOP56 ribonucleoprotein","omim_gene":["614154"],"alias_name":["spinocerebellar ataxia 36"],"gene_symbol":"NOP56","hgnc_symbol":"NOP56","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:2632791-2639039","ensembl_id":"ENSG00000101361"}},"GRch38":{"90":{"location":"20:2652145-2658393","ensembl_id":"ENSG00000101361"}}},"hgnc_date_symbol_changed":"2009-01-13"},"entity_type":"str","entity_name":"NOP56_SCA36_GGCCTG","confidence_level":"3","penetrance":null,"publications":["21683323"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Spinocerebellar ataxia 36 MIM#614153"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"GGCCTG","chromosome":"20","grch37_coordinates":[2633380,2633403],"grch38_coordinates":[2652734,2652757],"normal_repeats":14,"pathogenic_repeats":650,"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"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":[]}}]}