{"count":36124,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=130","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=128","results":[{"gene_data":{"alias":["RL","PRO1598"],"biotype":"protein_coding","hgnc_id":"HGNC:9957","gene_name":"reelin","omim_gene":["600514"],"alias_name":null,"gene_symbol":"RELN","hgnc_symbol":"RELN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:103112231-103629963","ensembl_id":"ENSG00000189056"}},"GRch38":{"90":{"location":"7:103471784-103989516","ensembl_id":"ENSG00000189056"}}},"hgnc_date_symbol_changed":"1997-07-22"},"entity_type":"gene","entity_name":"RELN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10973257","29671837","31805691","35769015"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":["Lissencephaly 2 (Norman-Roberts type), MIM# 257320"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":15,"hash_id":null,"name":"Lissencephaly and Band Heterotopia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Brain Malformations flagship, and is maintained by VCGS. 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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":"1.54","version_created":"2026-04-27T12:46:58.149374+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":142,"number_of_strs":1,"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"},{"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":["MDA-5","Hlcd","MDA5","IDDM19"],"biotype":"protein_coding","hgnc_id":"HGNC:18873","gene_name":"interferon induced with helicase C domain 1","omim_gene":["606951"],"alias_name":["helicard","melanoma differentiation-associated gene 5"],"gene_symbol":"IFIH1","hgnc_symbol":"IFIH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:163123589-163175213","ensembl_id":"ENSG00000115267"}},"GRch38":{"90":{"location":"2:162267079-162318703","ensembl_id":"ENSG00000115267"}}},"hgnc_date_symbol_changed":"2004-06-25"},"entity_type":"gene","entity_name":"IFIH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Singleton-Merten syndrome 1, MIM#\t182250"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":105,"hash_id":null,"name":"Glaucoma congenital","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Glaucoma (developmental)' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England, 7/8/2020.","status":"public","version":"1.12","version_created":"2026-04-07T13:50:17.268940+10:00","relevant_disorders":["Glaucoma","HP:0000501"],"stats":{"number_of_genes":28,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PTS2R","RD"],"biotype":"protein_coding","hgnc_id":"HGNC:8860","gene_name":"peroxisomal biogenesis factor 7","omim_gene":["601757"],"alias_name":["Refsum disease"],"gene_symbol":"PEX7","hgnc_symbol":"PEX7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:137143717-137235075","ensembl_id":"ENSG00000112357"}},"GRch38":{"90":{"location":"6:136822564-136913937","ensembl_id":"ENSG00000112357"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PEX7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0986"],"biotype":"protein_coding","hgnc_id":"HGNC:1908","gene_name":"vacuolar protein sorting 13 homolog A","omim_gene":["605978"],"alias_name":["chorein"],"gene_symbol":"VPS13A","hgnc_symbol":"VPS13A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:79792269-80036457","ensembl_id":"ENSG00000197969"}},"GRch38":{"90":{"location":"9:77177353-77421541","ensembl_id":"ENSG00000197969"}}},"hgnc_date_symbol_changed":"2004-02-11"},"entity_type":"gene","entity_name":"VPS13A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26813249","15824261","30140251","31192303"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Choreoacanthocytosis MIM#200150"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":126,"hash_id":null,"name":"Incidentalome","disease_group":"","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["JBTS4","SLSN1"],"biotype":"protein_coding","hgnc_id":"HGNC:7905","gene_name":"nephrocystin 1","omim_gene":["607100"],"alias_name":null,"gene_symbol":"NPHP1","hgnc_symbol":"NPHP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:110879888-110962643","ensembl_id":"ENSG00000144061"}},"GRch38":{"90":{"location":"2:110122311-110205066","ensembl_id":"ENSG00000144061"}}},"hgnc_date_symbol_changed":"1991-08-08"},"entity_type":"gene","entity_name":"NPHP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15138899","32139166","28347285"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 4, MIM# 609583"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":129,"hash_id":null,"name":"Joubert syndrome and other neurological ciliopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes associated with Joubert syndrome, Meckel Gruber syndrome and other ciliopathies where structural CNS abnormalities are prominent.\r\n\r\nPlease consider also applying the Cerebellar and Pontocerebellar Hypoplasia panel in the presence of more non-specific cerebellar abnormalities and applying the Ciliopathy panel in the presence of additional clinical features suggestive of a multi-system ciliopathy.","status":"public","version":"1.33","version_created":"2025-12-16T12:55:34.757878+11:00","relevant_disorders":["Molar tooth sign on MRI","HP:0002419; Joubert syndrome","MONDO:0018772"],"stats":{"number_of_genes":69,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4326","gene_name":"glycine receptor alpha 1","omim_gene":["138491"],"alias_name":["stiff person syndrome"],"gene_symbol":"GLRA1","hgnc_symbol":"GLRA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:151202074-151304403","ensembl_id":"ENSG00000145888"}},"GRch38":{"90":{"location":"5:151822513-151924842","ensembl_id":"ENSG00000145888"}}},"hgnc_date_symbol_changed":"1990-06-15"},"entity_type":"gene","entity_name":"GLRA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8298642","16832093"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hyperekplexia 1, MIM# 149400"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["DFNB101"],"biotype":"protein_coding","hgnc_id":"HGNC:33862","gene_name":"glutaredoxin and cysteine rich domain containing 2","omim_gene":["615762"],"alias_name":null,"gene_symbol":"GRXCR2","hgnc_symbol":"GRXCR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:145239296-145252531","ensembl_id":"ENSG00000204928"}},"GRch38":{"90":{"location":"5:145858521-145937126","ensembl_id":"ENSG00000204928"}}},"hgnc_date_symbol_changed":"2008-09-11"},"entity_type":"gene","entity_name":"GRXCR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24619944","33528103"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal recessive 101, MIM# 615837"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["TBPIP","GT198","HUMGT198A","Hop2"],"biotype":"protein_coding","hgnc_id":"HGNC:17928","gene_name":"PSMC3 interacting protein","omim_gene":["608665"],"alias_name":["TBP-1 interacting protein"],"gene_symbol":"PSMC3IP","hgnc_symbol":"PSMC3IP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40724333-40729849","ensembl_id":"ENSG00000131470"}},"GRch38":{"90":{"location":"17:42572315-42577831","ensembl_id":"ENSG00000131470"}}},"hgnc_date_symbol_changed":"2006-02-27"},"entity_type":"gene","entity_name":"PSMC3IP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21963259","35352317","34878148","30406445","29240891"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ovarian dysgenesis 3, MIM# 614324"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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:1071","gene_name":"bone morphogenetic protein 4","omim_gene":["112262"],"alias_name":null,"gene_symbol":"BMP4","hgnc_symbol":"BMP4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:54416454-54425479","ensembl_id":"ENSG00000125378"}},"GRch38":{"90":{"location":"14:53949736-53958761","ensembl_id":"ENSG00000125378"}}},"hgnc_date_symbol_changed":"1990-06-11"},"entity_type":"gene","entity_name":"BMP4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31053785","19249007","31909686","21340693"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Orofacial cleft 11 600625","Microphthalmia, syndromic 6, MIM# 607932"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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:14974","gene_name":"sorting nexin 10","omim_gene":["614780"],"alias_name":null,"gene_symbol":"SNX10","hgnc_symbol":"SNX10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:26331541-26413949","ensembl_id":"ENSG00000086300"}},"GRch38":{"90":{"location":"7:26291895-26374329","ensembl_id":"ENSG00000086300"}}},"hgnc_date_symbol_changed":"2001-04-10"},"entity_type":"gene","entity_name":"SNX10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22499339","23123320","33678645","32278070","30977576","30898715"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Osteopetrosis, autosomal recessive 8, MIM# 615085"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["AMCD2B","DA2B","FSSV","DKFZp779M2348"],"biotype":"protein_coding","hgnc_id":"HGNC:11950","gene_name":"troponin T3, fast skeletal type","omim_gene":["600692"],"alias_name":["troponin-T3, skeletal, fast"],"gene_symbol":"TNNT3","hgnc_symbol":"TNNT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:1940792-1959936","ensembl_id":"ENSG00000130595"}},"GRch38":{"90":{"location":"11:1919562-1938706","ensembl_id":"ENSG00000130595"}}},"hgnc_date_symbol_changed":"1994-07-25"},"entity_type":"gene","entity_name":"TNNT3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["12865991","19142688","21402185","25337069","17194691"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Arthrogryposis, distal, type 2B2, MIM# 618435","Nemaline myopathy MONDO:0018958"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["XGALT-1","beta4Gal-T7"],"biotype":"protein_coding","hgnc_id":"HGNC:930","gene_name":"beta-1,4-galactosyltransferase 7","omim_gene":["604327"],"alias_name":["galactosyltransferase I"],"gene_symbol":"B4GALT7","hgnc_symbol":"B4GALT7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:177027101-177037348","ensembl_id":"ENSG00000027847"}},"GRch38":{"90":{"location":"5:177600100-177610347","ensembl_id":"ENSG00000027847"}}},"hgnc_date_symbol_changed":"1999-12-07"},"entity_type":"gene","entity_name":"B4GALT7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23956117","24755949","31278392","31614862","31862401"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["P114-RhoGEF","KIAA0521","MGC15913"],"biotype":"protein_coding","hgnc_id":"HGNC:17090","gene_name":"Rho/Rac guanine nucleotide exchange factor 18","omim_gene":["616432"],"alias_name":["Rho-specific guanine nucleotide exchange factor p114"],"gene_symbol":"ARHGEF18","hgnc_symbol":"ARHGEF18","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:7459999-7537363","ensembl_id":"ENSG00000104880"}},"GRch38":{"90":{"location":"19:7395113-7472477","ensembl_id":"ENSG00000104880"}}},"hgnc_date_symbol_changed":"2004-01-09"},"entity_type":"gene","entity_name":"ARHGEF18","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["PMID: 28132693"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Retinitis pigmentosa 78 MIM#617433"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["OCTN1","MGC34546"],"biotype":"protein_coding","hgnc_id":"HGNC:10968","gene_name":"solute carrier family 22 member 4","omim_gene":["604190"],"alias_name":null,"gene_symbol":"SLC22A4","hgnc_symbol":"SLC22A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:131630136-131679899","ensembl_id":"ENSG00000197208"}},"GRch38":{"90":{"location":"5:132294443-132344206","ensembl_id":"ENSG00000197208"}}},"hgnc_date_symbol_changed":"1998-07-16"},"entity_type":"gene","entity_name":"SLC22A4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["15184985","24972750"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["susceptibility to rheumatoid arthritis MIM#180300"],"mode_of_inheritance":"Unknown","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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["CRYPTIC"],"biotype":"protein_coding","hgnc_id":"HGNC:18292","gene_name":"cripto, FRL-1, cryptic family 1","omim_gene":["605194"],"alias_name":null,"gene_symbol":"CFC1","hgnc_symbol":"CFC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:131350339-131357123","ensembl_id":"ENSG00000136698"}},"GRch38":{"90":{"location":"2:130592168-130599575","ensembl_id":"ENSG00000136698"}}},"hgnc_date_symbol_changed":"2004-02-04"},"entity_type":"gene","entity_name":"CFC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31633655","18162845","25423076","11062482"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Heterotaxy, visceral, 2, autosomal 605376"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["FLJ20731","FKBP22"],"biotype":"protein_coding","hgnc_id":"HGNC:18625","gene_name":"FK506 binding protein 14","omim_gene":["614505"],"alias_name":null,"gene_symbol":"FKBP14","hgnc_symbol":"FKBP14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:30050203-30066300","ensembl_id":"ENSG00000106080"}},"GRch38":{"90":{"location":"7:30010587-30026684","ensembl_id":"ENSG00000106080"}}},"hgnc_date_symbol_changed":"2002-06-05"},"entity_type":"gene","entity_name":"FKBP14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22265013","24773188","27149304","31132235","30561154","28617417"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["FLJ23356","SgK196"],"biotype":"protein_coding","hgnc_id":"HGNC:26267","gene_name":"protein-O-mannose kinase","omim_gene":["615247"],"alias_name":null,"gene_symbol":"POMK","hgnc_symbol":"POMK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:42948658-42978577","ensembl_id":"ENSG00000185900"}},"GRch38":{"90":{"location":"8:43093506-43123434","ensembl_id":"ENSG00000185900"}}},"hgnc_date_symbol_changed":"2013-08-22"},"entity_type":"gene","entity_name":"POMK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32907597","31833209","29910097","28109637","24925318","24556084"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249","Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, MIM# 616094"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GROS1","LEPRECAN","MGC117314"],"biotype":"protein_coding","hgnc_id":"HGNC:19316","gene_name":"prolyl 3-hydroxylase 1","omim_gene":["610339"],"alias_name":["growth suppressor 1","procollagen-proline 3-dioxygenase"],"gene_symbol":"P3H1","hgnc_symbol":"P3H1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:43212006-43232755","ensembl_id":"ENSG00000117385"}},"GRch38":{"90":{"location":"1:42746335-42767084","ensembl_id":"ENSG00000117385"}}},"hgnc_date_symbol_changed":"2014-12-12"},"entity_type":"gene","entity_name":"P3H1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17277775","18566967","36833249"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Osteogenesis imperfecta, type VIII, (MIM# 610915)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":147,"hash_id":null,"name":"Osteogenesis Imperfecta and Osteoporosis","disease_group":"Skeletal disorders; Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with osteogenesis imperfecta and osteoporosis. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Osteogenesis imperfecta' panel V5.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.18","version_created":"2026-02-22T14:59:29.563350+11:00","relevant_disorders":["Increased susceptibility to fractures","HP:0002659"],"stats":{"number_of_genes":48,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["trnW"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7501","gene_name":"mitochondrially encoded tRNA tryptophan","omim_gene":["590095"],"alias_name":null,"gene_symbol":"MT-TW","hgnc_symbol":"MT-TW","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:5512-5579","ensembl_id":"ENSG00000210117"}},"GRch38":{"90":{"location":"MT:5512-5579","ensembl_id":"ENSG00000210117"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TW","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["7695240","9266739","9673981","12776230","15054399","18337306","19809478","26524491","23841600","30937556"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TW-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":149,"hash_id":null,"name":"Optic Atrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH and contains genes associated with isolated and complex optic atrophy.","status":"public","version":"1.72","version_created":"2026-03-31T18:57:17.873049+11:00","relevant_disorders":["Optic atrophy","HP:0000648"],"stats":{"number_of_genes":80,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2481","gene_name":"cystatin A","omim_gene":["184600"],"alias_name":["stefin A"],"gene_symbol":"CSTA","hgnc_symbol":"CSTA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:122044091-122060819","ensembl_id":"ENSG00000121552"}},"GRch38":{"90":{"location":"3:122325244-122341972","ensembl_id":"ENSG00000121552"}}},"hgnc_date_symbol_changed":"1990-02-06"},"entity_type":"gene","entity_name":"CSTA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23534700","21944047","25400170"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Peeling skin syndrome 4\t#607936"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":153,"hash_id":null,"name":"Palmoplantar Keratoderma and Erythrokeratoderma","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.","status":"public","version":"0.144","version_created":"2026-03-08T22:20:02.332483+11:00","relevant_disorders":["Palmoplantar keratoderma","HP:0000982; Erythrokeratoderma","MONDO:0019270"],"stats":{"number_of_genes":73,"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":["APRF"],"biotype":"protein_coding","hgnc_id":"HGNC:11364","gene_name":"signal transducer and activator of transcription 3","omim_gene":["102582"],"alias_name":null,"gene_symbol":"STAT3","hgnc_symbol":"STAT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40465342-40540586","ensembl_id":"ENSG00000168610"}},"GRch38":{"90":{"location":"17:42313324-42388568","ensembl_id":"ENSG00000168610"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"STAT3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["17881745","14566054","25349174","25038750","25359994"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Hyper-IgE recurrent infection syndrome MIM# 147060","Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952","Childhood bronchiectasis, interstitial lung disease or pneumatocele"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":162,"hash_id":null,"name":"Pulmonary Fibrosis_Interstitial Lung Disease","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.","status":"public","version":"1.11","version_created":"2026-04-28T14:26:42.495816+10:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":98,"number_of_strs":1,"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":["H3.3A"],"biotype":"protein_coding","hgnc_id":"HGNC:4764","gene_name":"H3 histone family member 3A","omim_gene":["601128"],"alias_name":null,"gene_symbol":"H3F3A","hgnc_symbol":"H3F3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:226249552-226259702","ensembl_id":"ENSG00000163041"}},"GRch38":{"90":{"location":"1:226061851-226072001","ensembl_id":"ENSG00000163041"}}},"hgnc_date_symbol_changed":"1989-12-11"},"entity_type":"gene","entity_name":"H3F3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33268356"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720"],"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. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.414","version_created":"2026-04-29T19:08:58.015652+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1157,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Kir6.2","BIR"],"biotype":"protein_coding","hgnc_id":"HGNC:6257","gene_name":"potassium voltage-gated channel subfamily J member 11","omim_gene":["600937"],"alias_name":null,"gene_symbol":"KCNJ11","hgnc_symbol":"KCNJ11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:17407406-17410878","ensembl_id":"ENSG00000187486"}},"GRch38":{"90":{"location":"11:17385859-17389331","ensembl_id":"ENSG00000187486"}}},"hgnc_date_symbol_changed":"1997-09-12"},"entity_type":"gene","entity_name":"KCNJ11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18250167","11395395","23275527","23345197"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Diabetes mellitus, transient neonatal, 3 610582","Diabetes, permanent neonatal, with or without neurologic features 606176","Hyperinsulinemic hypoglycemia, familial, 2 601820"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.414","version_created":"2026-04-29T19:08:58.015652+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1157,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6831","gene_name":"mannosidase beta","omim_gene":["609489"],"alias_name":["beta-mannosidase A"],"gene_symbol":"MANBA","hgnc_symbol":"MANBA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:103552660-103682151","ensembl_id":"ENSG00000109323"}},"GRch38":{"90":{"location":"4:102631488-102760994","ensembl_id":"ENSG00000109323"}}},"hgnc_date_symbol_changed":"1990-05-25"},"entity_type":"gene","entity_name":"MANBA","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["12468273","22369051"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Mannosidosis, beta, MIM#248510"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.414","version_created":"2026-04-29T19:08:58.015652+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1157,"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":["B14","LYRM6","CI-B14","NADHB14"],"biotype":"protein_coding","hgnc_id":"HGNC:7690","gene_name":"NADH:ubiquinone oxidoreductase subunit A6","omim_gene":["602138"],"alias_name":["complex I B14 subunit"],"gene_symbol":"NDUFA6","hgnc_symbol":"NDUFA6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:42481529-42486959","ensembl_id":"ENSG00000184983"}},"GRch38":{"90":{"location":"22:42085525-42090955","ensembl_id":"ENSG00000184983"}}},"hgnc_date_symbol_changed":"1996-08-30"},"entity_type":"gene","entity_name":"NDUFA6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["30245030"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 33, MIM#618253"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.414","version_created":"2026-04-29T19:08:58.015652+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1157,"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":["TYKY","CI-23k"],"biotype":"protein_coding","hgnc_id":"HGNC:7715","gene_name":"NADH:ubiquinone oxidoreductase core subunit S8","omim_gene":["602141"],"alias_name":["complex I 23kDa subunit","NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial"],"gene_symbol":"NDUFS8","hgnc_symbol":"NDUFS8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:67798084-67804111","ensembl_id":"ENSG00000110717"}},"GRch38":{"90":{"location":"11:68030617-68036644","ensembl_id":"ENSG00000110717"}}},"hgnc_date_symbol_changed":"1996-07-26"},"entity_type":"gene","entity_name":"NDUFS8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23430795","9837812","15159508","22499348","20818383","20819849"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 2 MIM#618222"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.414","version_created":"2026-04-29T19:08:58.015652+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1157,"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":["DKFZp761A0620","FLJ11413"],"biotype":"protein_coding","hgnc_id":"HGNC:19405","gene_name":"piggyBac transposable element derived 5","omim_gene":["616791"],"alias_name":null,"gene_symbol":"PGBD5","hgnc_symbol":"PGBD5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:230457392-230561475","ensembl_id":"ENSG00000177614"}},"GRch38":{"90":{"location":"1:230314482-230426371","ensembl_id":"ENSG00000177614"}}},"hgnc_date_symbol_changed":"2002-10-23"},"entity_type":"gene","entity_name":"PGBD5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["41533792"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MIM#\t621482"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.414","version_created":"2026-04-29T19:08:58.015652+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1157,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7758","gene_name":"neuraminidase 1","omim_gene":["608272"],"alias_name":null,"gene_symbol":"NEU1","hgnc_symbol":"NEU1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31825436-31830683","ensembl_id":"ENSG00000204386"}},"GRch38":{"90":{"location":"6:31857659-31862906","ensembl_id":"ENSG00000204386"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NEU1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25401298","14517945"],"evidence":["Expert Review Green","Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Sialidosis, type I/II MIM#256550"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.414","version_created":"2026-04-29T19:08:58.015652+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1157,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2076","gene_name":"CLN5, intracellular trafficking protein","omim_gene":["608102"],"alias_name":null,"gene_symbol":"CLN5","hgnc_symbol":"CLN5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:77564795-77576652","ensembl_id":"ENSG00000102805"}},"GRch38":{"90":{"location":"13:76990660-77019143","ensembl_id":"ENSG00000102805"}}},"hgnc_date_symbol_changed":"1993-11-03"},"entity_type":"gene","entity_name":"CLN5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32983231","15728307","20157158"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 5, MIM#\t256731"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.414","version_created":"2026-04-29T19:08:58.015652+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1157,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ASHI","CI-ASHI"],"biotype":"protein_coding","hgnc_id":"HGNC:7703","gene_name":"NADH:ubiquinone oxidoreductase subunit B8","omim_gene":["602140"],"alias_name":["complex I ASHI subunit"],"gene_symbol":"NDUFB8","hgnc_symbol":"NDUFB8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:102267203-102289757","ensembl_id":"ENSG00000166136"}},"GRch38":{"90":{"location":"10:100523740-100530000","ensembl_id":"ENSG00000166136"}}},"hgnc_date_symbol_changed":"1996-10-18"},"entity_type":"gene","entity_name":"NDUFB8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29429571"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 32 - MIM#618252"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.23","version_created":"2026-04-30T15:32:02.669324+10:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":439,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC8685","DKFZp566F223","bA506K6.1"],"biotype":"protein_coding","hgnc_id":"HGNC:30829","gene_name":"tubulin beta 2B class IIb","omim_gene":["612850"],"alias_name":["class IIb beta-tubulin"],"gene_symbol":"TUBB2B","hgnc_symbol":"TUBB2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:3224495-3231964","ensembl_id":"ENSG00000137285"}},"GRch38":{"90":{"location":"6:3224261-3231730","ensembl_id":"ENSG00000137285"}}},"hgnc_date_symbol_changed":"2005-11-03"},"entity_type":"gene","entity_name":"TUBB2B","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":["CI-24k"],"biotype":"protein_coding","hgnc_id":"HGNC:7717","gene_name":"NADH:ubiquinone oxidoreductase core subunit V2","omim_gene":["600532"],"alias_name":["complex I 24kDa subunit","NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"],"gene_symbol":"NDUFV2","hgnc_symbol":"NDUFV2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:9102628-9134343","ensembl_id":"ENSG00000178127"}},"GRch38":{"90":{"location":"18:9102630-9134345","ensembl_id":"ENSG00000178127"}}},"hgnc_date_symbol_changed":"1994-09-07"},"entity_type":"gene","entity_name":"NDUFV2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33811136","34405929","12754703","26008862","30770271","19167255"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SEN2","SEN2L","MGC2776"],"biotype":"protein_coding","hgnc_id":"HGNC:28422","gene_name":"tRNA splicing endonuclease subunit 2","omim_gene":["608753"],"alias_name":null,"gene_symbol":"TSEN2","hgnc_symbol":"TSEN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:12525931-12581122","ensembl_id":"ENSG00000154743"}},"GRch38":{"90":{"location":"3:12484432-12539623","ensembl_id":"ENSG00000154743"}}},"hgnc_date_symbol_changed":"2005-03-07"},"entity_type":"gene","entity_name":"TSEN2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1416","FLJ20357","FLJ20361"],"biotype":"protein_coding","hgnc_id":"HGNC:20626","gene_name":"chromodomain helicase DNA binding protein 7","omim_gene":["608892"],"alias_name":null,"gene_symbol":"CHD7","hgnc_symbol":"CHD7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:61591337-61779465","ensembl_id":"ENSG00000171316"}},"GRch38":{"90":{"location":"8:60678778-60868028","ensembl_id":"ENSG00000171316"}}},"hgnc_date_symbol_changed":"2004-06-22"},"entity_type":"gene","entity_name":"CHD7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["CHARGE syndrome, MIM# 214800"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AGAS","ARGA","NAT7"],"biotype":"protein_coding","hgnc_id":"HGNC:17996","gene_name":"N-acetylglutamate synthase","omim_gene":["608300"],"alias_name":null,"gene_symbol":"NAGS","hgnc_symbol":"NAGS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42081914-42086431","ensembl_id":"ENSG00000161653"}},"GRch38":{"90":{"location":"17:44004546-44009063","ensembl_id":"ENSG00000161653"}}},"hgnc_date_symbol_changed":"2004-12-03"},"entity_type":"gene","entity_name":"NAGS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["N-acetylglutamate synthase deficiency - MIM#237310"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"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":["NRF2"],"biotype":"protein_coding","hgnc_id":"HGNC:7782","gene_name":"nuclear factor, erythroid 2 like 2","omim_gene":["600492"],"alias_name":["NF-E2-related factor 2"],"gene_symbol":"NFE2L2","hgnc_symbol":"NFE2L2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:178092323-178257425","ensembl_id":"ENSG00000116044"}},"GRch38":{"90":{"location":"2:177227595-177392697","ensembl_id":"ENSG00000116044"}}},"hgnc_date_symbol_changed":"1994-03-24"},"entity_type":"gene","entity_name":"NFE2L2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29018201"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM#\t617744","Recurrent respiratory and skin infection","Growth retardation","Developmental delay, borderline ID","White matter cerebral lesions"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.147","version_created":"2026-04-28T14:29:47.878410+10:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["LAP2"],"biotype":"protein_coding","hgnc_id":"HGNC:15842","gene_name":"erbb2 interacting protein","omim_gene":["606944"],"alias_name":["densin-180-like protein","ERBB2-interacting protein"],"gene_symbol":"ERBIN","hgnc_symbol":"ERBIN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:65222303-65378377","ensembl_id":"ENSG00000112851"}},"GRch38":{"90":{"location":"5:65926475-66082549","ensembl_id":"ENSG00000112851"}}},"hgnc_date_symbol_changed":"2016-02-17"},"entity_type":"gene","entity_name":"ERBIN","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["28126831"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Combined immunodeficiency, MONDO:0015131, ERBIN-related","Recurrent respiratory infections","Susceptibility to S.aureus","Eczema","Hyperextensible joints","Scoliosis","Arterial dilatation in some"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.147","version_created":"2026-04-28T14:29:47.878410+10:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SOCS-1","SSI-1","JAB","TIP3","Cish1"],"biotype":"protein_coding","hgnc_id":"HGNC:19383","gene_name":"suppressor of cytokine signaling 1","omim_gene":["603597"],"alias_name":null,"gene_symbol":"SOCS1","hgnc_symbol":"SOCS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:11348262-11350036","ensembl_id":"ENSG00000185338"}},"GRch38":{"90":{"location":"16:11254405-11256179","ensembl_id":"ENSG00000185338"}}},"hgnc_date_symbol_changed":"2002-11-13"},"entity_type":"gene","entity_name":"SOCS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33087723","35976468"],"evidence":["Expert Review Green","Literature","Expert Review Green","Literature"],"phenotypes":["Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375","Early-onset autoimmunity"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.43","version_created":"2026-04-06T13:01:39.255117+10:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":118,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8087","gene_name":"2'-5'-oligoadenylate synthetase 2","omim_gene":["603350"],"alias_name":null,"gene_symbol":"OAS2","hgnc_symbol":"OAS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:113416200-113449528","ensembl_id":"ENSG00000111335"}},"GRch38":{"90":{"location":"12:112978395-113011723","ensembl_id":"ENSG00000111335"}}},"hgnc_date_symbol_changed":"1998-06-10"},"entity_type":"gene","entity_name":"OAS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 36538032"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Autoinflammation and autoimmunity, systemic, with immune dysregulation 2, MIM# 621409"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":237,"hash_id":null,"name":"Susceptibility to Viral Infections","disease_group":"Immunological disorders","disease_sub_group":"","description":"This 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). It is currently maintained by VCGS.\r\n\r\nUpdated with the 2019 International Union of Immunological Societies Committee classification, Tangye et al. 2019 and the COVID Human Genetic Effort list, Casanova et al 2020.","status":"public","version":"1.10","version_created":"2026-03-26T15:17:02.053015+11:00","relevant_disorders":["Recurrent viral infections","HP:0004429; Severe viral infection","HP:0031691"],"stats":{"number_of_genes":54,"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":["FLJ38973"],"biotype":"protein_coding","hgnc_id":"HGNC:26799","gene_name":"chromosome 2 open reading frame 69","omim_gene":null,"alias_name":["hypothetical protein FLJ38973"],"gene_symbol":"C2orf69","hgnc_symbol":"C2orf69","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:200775979-200820658","ensembl_id":"ENSG00000178074"}},"GRch38":{"90":{"location":"2:199911256-199955935","ensembl_id":"ENSG00000178074"}}},"hgnc_date_symbol_changed":"2008-07-02"},"entity_type":"gene","entity_name":"C2orf69","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34038740","33945503"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":238,"hash_id":null,"name":"Autoinflammatory Disorders","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).","status":"public","version":"2.46","version_created":"2026-03-16T12:22:08.572710+11:00","relevant_disorders":["Fever HP:0001945;Systemic autoinflammation HP:0033428"],"stats":{"number_of_genes":108,"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 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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":["MGC3279","CL-K1"],"biotype":"protein_coding","hgnc_id":"HGNC:17213","gene_name":"collectin subfamily member 11","omim_gene":["612502"],"alias_name":["Collectin K1"],"gene_symbol":"COLEC11","hgnc_symbol":"COLEC11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:3642426-3692048","ensembl_id":"ENSG00000118004"}},"GRch38":{"90":{"location":"2:3594832-3644644","ensembl_id":"ENSG00000118004"}}},"hgnc_date_symbol_changed":"2001-11-20"},"entity_type":"gene","entity_name":"COLEC11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["3MC syndrome 2, 265050 (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":["BART"],"biotype":"protein_coding","hgnc_id":"HGNC:16512","gene_name":"barttin CLCNK type accessory beta subunit","omim_gene":["606412"],"alias_name":null,"gene_symbol":"BSND","hgnc_symbol":"BSND","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:55464606-55476556","ensembl_id":"ENSG00000162399"}},"GRch38":{"90":{"location":"1:54998933-55010883","ensembl_id":"ENSG00000162399"}}},"hgnc_date_symbol_changed":"2004-01-28"},"entity_type":"gene","entity_name":"BSND","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Bartter syndrome, type 4a, 602522 (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":["GLUT10"],"biotype":"protein_coding","hgnc_id":"HGNC:13444","gene_name":"solute carrier family 2 member 10","omim_gene":["606145"],"alias_name":null,"gene_symbol":"SLC2A10","hgnc_symbol":"SLC2A10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:45338126-45364965","ensembl_id":"ENSG00000197496"}},"GRch38":{"90":{"location":"20:46709487-46736347","ensembl_id":"ENSG00000197496"}}},"hgnc_date_symbol_changed":"2001-04-02"},"entity_type":"gene","entity_name":"SLC2A10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16550171"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["208050","Moyamoya disease","Arterial tortuosity syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3144,"hash_id":null,"name":"Cerebral vascular malformations","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes associated with cerebral vascular malformations, including:\r\nVein of Galen malformation\r\nCerebral vascular malformations\r\nMoyamoya disease\r\n\r\nConsider applying the Stroke and Aortopathy_Connective Tissue Disorders panels due to overlap in clinical features.\r\nWith thanks to the Genomics England PanelApp team for the original design.","status":"public","version":"1.12","version_created":"2026-01-22T10:52:30.127872+11:00","relevant_disorders":["Abnormal cerebral vascular morphology HP:0100659"],"stats":{"number_of_genes":54,"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."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FAD","FAD1","BRCC2","XRCC11"],"biotype":"protein_coding","hgnc_id":"HGNC:1101","gene_name":"BRCA2, DNA repair associated","omim_gene":["600185"],"alias_name":["BRCA1/BRCA2-containing complex, subunit 2"],"gene_symbol":"BRCA2","hgnc_symbol":"BRCA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:32889611-32973805","ensembl_id":"ENSG00000139618"}},"GRch38":{"90":{"location":"13:32315474-32400266","ensembl_id":"ENSG00000139618"}}},"hgnc_date_symbol_changed":"1994-10-17"},"entity_type":"gene","entity_name":"BRCA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34794894","30207912","30865812"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Fanconi anemia, complementation group D1\tMIM#605724","premature ovarian failure"],"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":["VKCFD1"],"biotype":"protein_coding","hgnc_id":"HGNC:4247","gene_name":"gamma-glutamyl carboxylase","omim_gene":["137167"],"alias_name":["vitamin K-dependent gamma-carboxylase"],"gene_symbol":"GGCX","hgnc_symbol":"GGCX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:85771846-85788670","ensembl_id":"ENSG00000115486"}},"GRch38":{"90":{"location":"2:85544723-85561547","ensembl_id":"ENSG00000115486"}}},"hgnc_date_symbol_changed":"1994-07-04"},"entity_type":"gene","entity_name":"GGCX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450"],"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:870","gene_name":"ATPase copper transporting beta","omim_gene":["606882"],"alias_name":["Wilson disease","copper pump 2","copper-transporting ATPase 2"],"gene_symbol":"ATP7B","hgnc_symbol":"ATP7B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:52506809-52585630","ensembl_id":"ENSG00000123191"}},"GRch38":{"90":{"location":"13:51930436-52012125","ensembl_id":"ENSG00000123191"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ATP7B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Wilson disease, MIM#277900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3400,"hash_id":null,"name":"Liver Failure_Paediatric","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause liver failure in children.\r\n\r\nPlease also consider using the Cholestasis panel if clinically indicated.","status":"public","version":"1.33","version_created":"2026-01-08T17:48:33.703909+11:00","relevant_disorders":["Liver failure","HP:0001399"],"stats":{"number_of_genes":68,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PTPH1"],"biotype":"protein_coding","hgnc_id":"HGNC:9655","gene_name":"protein tyrosine phosphatase, non-receptor type 3","omim_gene":["176877"],"alias_name":null,"gene_symbol":"PTPN3","hgnc_symbol":"PTPN3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:112137746-112260590","ensembl_id":"ENSG00000070159"}},"GRch38":{"90":{"location":"9:109375466-109498313","ensembl_id":"ENSG00000070159"}}},"hgnc_date_symbol_changed":"1992-02-12"},"entity_type":"gene","entity_name":"PTPN3","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":["PHOG","GCFX","SS","SHOXY"],"biotype":"protein_coding","hgnc_id":"HGNC:10853","gene_name":"short stature homeobox","omim_gene":["312865","400020"],"alias_name":null,"gene_symbol":"SHOX","hgnc_symbol":"SHOX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:585079-620146","ensembl_id":"ENSG00000185960"}},"GRch38":{"90":{"location":"X:624344-659411","ensembl_id":"ENSG00000185960"}}},"hgnc_date_symbol_changed":"1998-06-05"},"entity_type":"gene","entity_name":"SHOX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Langer mesomelic dysplasia, MIM# 249700","Leri-Weill dyschondrosteosis, MIM# 127300"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["SV/CNV"],"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":"1.107","version_created":"2026-04-30T15:03:50.139368+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":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":null,"publications":["25792360","32816121","32816121","32324310"],"evidence":["Expert Review Green","Literature"],"phenotypes":["multiple congenital anomalies","congenital heart defects","hypospadias, thin corpus callosum, cerebral ventricular dilatation","Basel-Vanagait-Smirin-Yosef syndrome - #616449","Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643"],"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":"1.576","version_created":"2026-04-29T19:01:52.053429+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":["MSU"],"biotype":"protein_coding","hgnc_id":"HGNC:986","gene_name":"branched chain keto acid dehydrogenase E1, alpha polypeptide","omim_gene":["608348"],"alias_name":["maple syrup urine disease"],"gene_symbol":"BCKDHA","hgnc_symbol":"BCKDHA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:41884215-41930910","ensembl_id":"ENSG00000248098"}},"GRch38":{"90":{"location":"19:41397460-41425005","ensembl_id":"ENSG00000248098"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"BCKDHA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Maple syrup urine disease, type Ia, MIM# 248600"],"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":"1.576","version_created":"2026-04-29T19:01:52.053429+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":["MAT","SAMS","MATA1","SAMS1"],"biotype":"protein_coding","hgnc_id":"HGNC:6903","gene_name":"methionine adenosyltransferase 1A","omim_gene":["610550"],"alias_name":["S-adenosylmethionine synthetase"],"gene_symbol":"MAT1A","hgnc_symbol":"MAT1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:82031576-82049440","ensembl_id":"ENSG00000151224"}},"GRch38":{"90":{"location":"10:80271820-80289684","ensembl_id":"ENSG00000151224"}}},"hgnc_date_symbol_changed":"1997-07-01"},"entity_type":"gene","entity_name":"MAT1A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308","7560086"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850","Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850","Disorders of the metabolism of sulphur amino acids"],"mode_of_inheritance":"BOTH monoallelic and 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":"1.576","version_created":"2026-04-29T19:01:52.053429+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":["KIAA1557","DKFZp686G052","FLJ30619","BAF200"],"biotype":"protein_coding","hgnc_id":"HGNC:18037","gene_name":"AT-rich interaction domain 2","omim_gene":["609539"],"alias_name":null,"gene_symbol":"ARID2","hgnc_symbol":"ARID2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:46123448-46301823","ensembl_id":"ENSG00000189079"}},"GRch38":{"90":{"location":"12:45729665-45908040","ensembl_id":"ENSG00000189079"}}},"hgnc_date_symbol_changed":"2004-01-28"},"entity_type":"gene","entity_name":"ARID2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26238514","30838730","29698805","28884947","28124119"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Coffin-Siris syndrome 6, MIM# 617808"],"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":"1.576","version_created":"2026-04-29T19:01:52.053429+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":["HCAP","BAM","SMC3L1","bamacan"],"biotype":"protein_coding","hgnc_id":"HGNC:2468","gene_name":"structural maintenance of chromosomes 3","omim_gene":["606062"],"alias_name":["bamacan proteoglycan"],"gene_symbol":"SMC3","hgnc_symbol":"SMC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:112327449-112364394","ensembl_id":"ENSG00000108055"}},"GRch38":{"90":{"location":"10:110567691-110604636","ensembl_id":"ENSG00000108055"}}},"hgnc_date_symbol_changed":"2006-07-06"},"entity_type":"gene","entity_name":"SMC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Cornelia de Lange syndrome 3, MIM# 610759"],"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":"1.576","version_created":"2026-04-29T19:01:52.053429+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":["NKCC2"],"biotype":"protein_coding","hgnc_id":"HGNC:10910","gene_name":"solute carrier family 12 member 1","omim_gene":["600839"],"alias_name":null,"gene_symbol":"SLC12A1","hgnc_symbol":"SLC12A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:48483861-48596275","ensembl_id":"ENSG00000074803"}},"GRch38":{"90":{"location":"15:48191664-48304078","ensembl_id":"ENSG00000074803"}}},"hgnc_date_symbol_changed":"1994-02-16"},"entity_type":"gene","entity_name":"SLC12A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Bartter syndrome, type 1, MIM#601678"],"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":"1.576","version_created":"2026-04-29T19:01:52.053429+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":["NARS1"],"biotype":"protein_coding","hgnc_id":"HGNC:7643","gene_name":"asparaginyl-tRNA synthetase","omim_gene":["108410"],"alias_name":["asparagine tRNA ligase 1, cytoplasmic"],"gene_symbol":"NARS","hgnc_symbol":"NARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:55267888-55289445","ensembl_id":"ENSG00000134440"}},"GRch38":{"90":{"location":"18:57600656-57622213","ensembl_id":"ENSG00000134440"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"NARS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32738225","32788587"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive - MIM#619091","Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant - MIM#619092"],"mode_of_inheritance":"BOTH monoallelic and 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":"1.576","version_created":"2026-04-29T19:01:52.053429+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:1117","gene_name":"bassoon presynaptic cytomatrix protein","omim_gene":["604020"],"alias_name":["zinc finger protein 231","neuronal double zinc finger protein"],"gene_symbol":"BSN","hgnc_symbol":"BSN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:49591922-49708978","ensembl_id":"ENSG00000164061"}},"GRch38":{"90":{"location":"3:49554489-49671545","ensembl_id":"ENSG00000164061"}}},"hgnc_date_symbol_changed":"1999-01-07"},"entity_type":"gene","entity_name":"BSN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40393460"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO:0700092), BSN-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:359","gene_name":"aryl hydrocarbon receptor interacting protein like 1","omim_gene":["604392"],"alias_name":null,"gene_symbol":"AIPL1","hgnc_symbol":"AIPL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:6297013-6338519","ensembl_id":"ENSG00000129221"}},"GRch38":{"90":{"location":"17:6393693-6435199","ensembl_id":"ENSG00000129221"}}},"hgnc_date_symbol_changed":"1999-03-18"},"entity_type":"gene","entity_name":"AIPL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33067476"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leber congenital amaurosis 4, 604393","Cone-rod dystrophy, 604393","Retinitis pigmentosa, juvenile, 604393"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MDR2","PFIC-3","GBD1"],"biotype":"protein_coding","hgnc_id":"HGNC:45","gene_name":"ATP binding cassette subfamily B member 4","omim_gene":["171060"],"alias_name":null,"gene_symbol":"ABCB4","hgnc_symbol":"ABCB4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:87031013-87109751","ensembl_id":"ENSG00000005471"}},"GRch38":{"90":{"location":"7:87401697-87480435","ensembl_id":"ENSG00000005471"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"ABCB4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17726488"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Cholestasis, progressive familial intrahepatic 3 MIM#602347"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["STAT91","ISGF-3"],"biotype":"protein_coding","hgnc_id":"HGNC:11362","gene_name":"signal transducer and activator of transcription 1","omim_gene":["600555"],"alias_name":["transcription factor ISGF-3 components p91/p84"],"gene_symbol":"STAT1","hgnc_symbol":"STAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:191829084-191885686","ensembl_id":"ENSG00000115415"}},"GRch38":{"90":{"location":"2:190964358-191020960","ensembl_id":"ENSG00000115415"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"STAT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31512162, PMID: 27117246"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive MIM#613796"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological"],"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":["CK6C","K6C","CK6D","K6D"],"biotype":"protein_coding","hgnc_id":"HGNC:6443","gene_name":"keratin 6A","omim_gene":["148041"],"alias_name":null,"gene_symbol":"KRT6A","hgnc_symbol":"KRT6A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52880958-52887041","ensembl_id":"ENSG00000205420"}},"GRch38":{"90":{"location":"12:52487174-52493257","ensembl_id":"ENSG00000205420"}}},"hgnc_date_symbol_changed":"1991-09-12"},"entity_type":"gene","entity_name":"KRT6A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Pachyonychia congenita 3 (MIM#615726)"],"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":["p53R2"],"biotype":"protein_coding","hgnc_id":"HGNC:17296","gene_name":"ribonucleotide reductase regulatory TP53 inducible subunit M2B","omim_gene":["604712"],"alias_name":null,"gene_symbol":"RRM2B","hgnc_symbol":"RRM2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:103216730-103251346","ensembl_id":"ENSG00000048392"}},"GRch38":{"90":{"location":"8:102204502-102239118","ensembl_id":"ENSG00000048392"}}},"hgnc_date_symbol_changed":"2002-01-14"},"entity_type":"gene","entity_name":"RRM2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32827185","24741716"],"evidence":["Expert Review Green","KidGen_MetabolicRenal v38.1.0","Expert Review Green","KidGen_MetabolicRenal v38.1.0","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315","Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075","Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CASP","LEPREL3","P3H5"],"biotype":"protein_coding","hgnc_id":"HGNC:2379","gene_name":"cartilage associated protein","omim_gene":["605497"],"alias_name":["leprecan-like 3","prolyl 3-hydroxylase family member 5 (non-enzymatic)"],"gene_symbol":"CRTAP","hgnc_symbol":"CRTAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:33155471-33189265","ensembl_id":"ENSG00000170275"}},"GRch38":{"90":{"location":"3:33113979-33147773","ensembl_id":"ENSG00000170275"}}},"hgnc_date_symbol_changed":"1999-10-19"},"entity_type":"gene","entity_name":"CRTAP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21955071","17192541","19846465"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Osteogenesis imperfecta, type VII MIM#610682"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GALA"],"biotype":"protein_coding","hgnc_id":"HGNC:4296","gene_name":"galactosidase alpha","omim_gene":["300644"],"alias_name":null,"gene_symbol":"GLA","hgnc_symbol":"GLA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:100652791-100662913","ensembl_id":"ENSG00000102393"}},"GRch38":{"90":{"location":"X:101397803-101407925","ensembl_id":"ENSG00000102393"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"GLA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30681346"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Fabry disease (MIM# 301500)"],"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":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. 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Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.156","version_created":"2026-04-30T15:46:29.604965+10:00","relevant_disorders":[],"stats":{"number_of_genes":269,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6595","gene_name":"LIM homeobox 3","omim_gene":["600577"],"alias_name":null,"gene_symbol":"LHX3","hgnc_symbol":"LHX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139088096-139096955","ensembl_id":"ENSG00000107187"}},"GRch38":{"90":{"location":"9:136196250-136205109","ensembl_id":"ENSG00000107187"}}},"hgnc_date_symbol_changed":"2000-03-22"},"entity_type":"gene","entity_name":"LHX3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Pituitary hormone deficiency, combined, 3 (221750)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":4523,"hash_id":null,"name":"Adrenal insufficiency","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","description":"This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.","status":"public","version":"0.76","version_created":"2026-03-19T16:21:18.336273+11:00","relevant_disorders":[],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TFIID"],"biotype":"protein_coding","hgnc_id":"HGNC:11588","gene_name":"TATA-box binding protein","omim_gene":["600075"],"alias_name":null,"gene_symbol":"TBP","hgnc_symbol":"TBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:170863390-170881958","ensembl_id":"ENSG00000112592"}},"GRch38":{"90":{"location":"6:170554302-170572870","ensembl_id":"ENSG00000112592"}}},"hgnc_date_symbol_changed":"1993-05-26"},"entity_type":"str","entity_name":"TBP_SCA17_CAG","confidence_level":"3","penetrance":null,"publications":["10484774","20301611","29325606"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Spinocerebellar ataxia 17 MIM#607136"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CAG","chromosome":"6","grch37_coordinates":[170870996,170871109],"grch38_coordinates":[170561908,170562021],"normal_repeats":40,"pathogenic_repeats":49,"tags":["adult-onset","paediatric-onset"],"panel":{"id":3597,"hash_id":null,"name":"Repeat Disorders","disease_group":"","disease_sub_group":"","description":"This panel contains reported short tandem repeat (STR) expansion disorders. The naming convention of the STRs is based on the name of the condition or fragile site that the expansion is associated with. \r\nThe panel was developed by RMH and WEHI, and is maintained by RMH.\r\n\r\nThis panel is used as a research panel by the Australian Genomics Acute Care study.","status":"public","version":"0.272","version_created":"2026-01-02T15:16:39.779953+11:00","relevant_disorders":[],"stats":{"number_of_genes":0,"number_of_strs":76,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"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":[]}}]}