{"count":36033,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=28","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=26","results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11802","gene_name":"TIA1 cytotoxic granule associated RNA binding protein","omim_gene":["603518"],"alias_name":["T-cell-restricted intracellular antigen-1","nucleolysin TIA-1 isoform p40"],"gene_symbol":"TIA1","hgnc_symbol":"TIA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:70436576-70475792","ensembl_id":"ENSG00000116001"}},"GRch38":{"90":{"location":"2:70209444-70248660","ensembl_id":"ENSG00000116001"}}},"hgnc_date_symbol_changed":"1995-11-01"},"entity_type":"gene","entity_name":"TIA1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["36861178","29599744","29457785"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Multisystem proteinopathy"],"mode_of_inheritance":"Other","tags":[],"panel":{"id":24,"hash_id":null,"name":"Early-onset Dementia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause frontotemporal dementia (FTD), Alzheimer's disease, other forms of dementia, and adult-onset cognitive decline. 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Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"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 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vessel disorders that predispose to bleeding and to thrombosis.","status":"public","version":"1.77","version_created":"2026-04-08T12:32:35.286494+10:00","relevant_disorders":["Abnormal bleeding","HP:0001892;Abnormal thrombosis","HP:0001977"],"stats":{"number_of_genes":140,"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":["PRISM","KMT8C"],"biotype":"protein_coding","hgnc_id":"HGNC:9350","gene_name":"PR/SET domain 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reported to cause cholestasis.\r\n\r\nPlease also consider using the Liver Failure_Paediatric panel if clinically indicated.\r\n\r\nThe content of this panel has been compared against the Genomics England PanelApp 'Cholestasis' panel V1.21, with all discrepancies reviewed and resolved, and reciprocal feedback provided to Genomics England.","status":"public","version":"1.10","version_created":"2026-03-26T17:26:27.105917+11:00","relevant_disorders":["Cholestasis HP:0001396"],"stats":{"number_of_genes":99,"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":["CEP90"],"biotype":"protein_coding","hgnc_id":"HGNC:23352","gene_name":"progesterone immunomodulatory binding factor 1","omim_gene":["607532"],"alias_name":["progesterone-induced blocking factor 1"],"gene_symbol":"PIBF1","hgnc_symbol":"PIBF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:73356197-73590591","ensembl_id":"ENSG00000083535"}},"GRch38":{"90":{"location":"13:72782059-73016461","ensembl_id":"ENSG00000083535"}}},"hgnc_date_symbol_changed":"2007-10-17"},"entity_type":"gene","entity_name":"PIBF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID:26167768","30858804","29695797","33004012"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Joubert syndrome 33, OMIM #617767"],"mode_of_inheritance":"BIALLELIC, autosomal or 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phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD49c","VLA3a","VCA-2","GAP-B3"],"biotype":"protein_coding","hgnc_id":"HGNC:6139","gene_name":"integrin subunit alpha 3","omim_gene":["605025"],"alias_name":["alpha 3 subunit of VLA-3 receptor","antigen 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and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.","status":"public","version":"1.27","version_created":"2026-03-08T22:19:30.435795+11:00","relevant_disorders":["Abnormal blistering of the skin","HP:0008066"],"stats":{"number_of_genes":46,"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":["MEK2"],"biotype":"protein_coding","hgnc_id":"HGNC:6842","gene_name":"mitogen-activated protein kinase kinase 2","omim_gene":["601263"],"alias_name":null,"gene_symbol":"MAP2K2","hgnc_symbol":"MAP2K2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:4090319-4124126","ensembl_id":"ENSG00000126934"}},"GRch38":{"90":{"location":"19:4090321-4124129","ensembl_id":"ENSG00000126934"}}},"hgnc_date_symbol_changed":"1993-11-05"},"entity_type":"gene","entity_name":"MAP2K2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","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":["tuberin","LAM","PPP1R160"],"biotype":"protein_coding","hgnc_id":"HGNC:12363","gene_name":"TSC complex subunit 2","omim_gene":["191092"],"alias_name":["protein phosphatase 1, regulatory subunit 160"],"gene_symbol":"TSC2","hgnc_symbol":"TSC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:2097466-2138716","ensembl_id":"ENSG00000103197"}},"GRch38":{"90":{"location":"16:2047465-2088720","ensembl_id":"ENSG00000103197"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"TSC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance","Victorian Clinical Genetics Services"],"phenotypes":["Tuberous sclerosis-2, MIM# 613254"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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; 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It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4732","version_created":"2026-04-08T11:57:48.690712+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["pT49","T49"],"biotype":"protein_coding","hgnc_id":"HGNC:3696","gene_name":"fibrinogen like 2","omim_gene":["605351"],"alias_name":null,"gene_symbol":"FGL2","hgnc_symbol":"FGL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:76822688-76829143","ensembl_id":"ENSG00000127951"}},"GRch38":{"90":{"location":"7:77193371-77199848","ensembl_id":"ENSG00000127951"}}},"hgnc_date_symbol_changed":"1999-09-07"},"entity_type":"gene","entity_name":"FGL2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["36243222"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Autoinflammatory syndrome, MONDO:0019751, FGL2-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4732","version_created":"2026-04-08T11:57:48.690712+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["UBOX4","NMP200","PSO4","hPSO4","SNEV"],"biotype":"protein_coding","hgnc_id":"HGNC:17896","gene_name":"pre-mRNA processing factor 19","omim_gene":["608330"],"alias_name":["nuclear matrix protein NMP200 related to splicing factor PRP19","psoralen 4"],"gene_symbol":"PRPF19","hgnc_symbol":"PRPF19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:60658202-60674060","ensembl_id":"ENSG00000110107"}},"GRch38":{"90":{"location":"11:60890730-60906588","ensembl_id":"ENSG00000110107"}}},"hgnc_date_symbol_changed":"2005-04-01"},"entity_type":"gene","entity_name":"PRPF19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37962958"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO:0700092), PRPF19-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4732","version_created":"2026-04-08T11:57:48.690712+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MRCKB","KIAA1124"],"biotype":"protein_coding","hgnc_id":"HGNC:1738","gene_name":"CDC42 binding protein kinase beta","omim_gene":["614062"],"alias_name":null,"gene_symbol":"CDC42BPB","hgnc_symbol":"CDC42BPB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:103398716-103523799","ensembl_id":"ENSG00000198752"}},"GRch38":{"90":{"location":"14:102932379-103057462","ensembl_id":"ENSG00000198752"}}},"hgnc_date_symbol_changed":"1998-11-06"},"entity_type":"gene","entity_name":"CDC42BPB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32031333"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841"],"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":"1.4732","version_created":"2026-04-08T11:57:48.690712+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["BERF-1","ZBP-89","BFCOL1","HT-BETA","ZFP148","pHZ-52"],"biotype":"protein_coding","hgnc_id":"HGNC:12933","gene_name":"zinc finger protein 148","omim_gene":["601897"],"alias_name":null,"gene_symbol":"ZNF148","hgnc_symbol":"ZNF148","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:124944405-125094198","ensembl_id":"ENSG00000163848"}},"GRch38":{"90":{"location":"3:125225561-125375354","ensembl_id":"ENSG00000163848"}}},"hgnc_date_symbol_changed":"1994-03-16"},"entity_type":"gene","entity_name":"ZNF148","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 27964749"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies","MIM#617260"],"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":"1.4732","version_created":"2026-04-08T11:57:48.690712+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EIPR-1"],"biotype":"protein_coding","hgnc_id":"HGNC:12383","gene_name":"EARP complex and GARP complex interacting protein 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It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2972","gene_name":"dynamin 1","omim_gene":["602377"],"alias_name":null,"gene_symbol":"DNM1","hgnc_symbol":"DNM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:130965658-131017527","ensembl_id":"ENSG00000106976"}},"GRch38":{"90":{"location":"9:128191655-128255248","ensembl_id":"ENSG00000106976"}}},"hgnc_date_symbol_changed":"1992-07-09"},"entity_type":"gene","entity_name":"DNM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25262651","27066543","33372033","34172529","36553519","37900685"],"evidence":["Literature","Expert Review Green"],"phenotypes":["Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346","Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352"],"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. 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It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Calmbp1","ASP","FLJ10517","FLJ10549"],"biotype":"protein_coding","hgnc_id":"HGNC:19048","gene_name":"abnormal spindle microtubule assembly","omim_gene":["605481"],"alias_name":null,"gene_symbol":"ASPM","hgnc_symbol":"ASPM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:197053258-197115824","ensembl_id":"ENSG00000066279"}},"GRch38":{"90":{"location":"1:197084128-197146694","ensembl_id":"ENSG00000066279"}}},"hgnc_date_symbol_changed":"2002-08-13"},"entity_type":"gene","entity_name":"ASPM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["(PMID:32239881","19770472","18452193","16141009)"],"evidence":["Expert Review Green","ClinGen","Literature","Expert Review"],"phenotypes":["Primary autosomal recessive Microcephaly 5 - OMIM #608716"],"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. 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It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10504","LST005","MST","misato"],"biotype":"protein_coding","hgnc_id":"HGNC:29678","gene_name":"misato 1, mitochondrial distribution and morphology regulator","omim_gene":["617619"],"alias_name":null,"gene_symbol":"MSTO1","hgnc_symbol":"MSTO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:155579979-155718153","ensembl_id":"ENSG00000125459"}},"GRch38":{"90":{"location":"1:155610205-155614967","ensembl_id":"ENSG00000125459"}}},"hgnc_date_symbol_changed":"2005-07-19"},"entity_type":"gene","entity_name":"MSTO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28554942","28544275","31604776","31463572","31130378","30684668","29339779"],"evidence":["Expert list","Expert Review Green","Expert list"],"phenotypes":["Myopathy, mitochondrial, and ataxia, MIM#\t617675"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal 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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":["FHR5","FHR-5"],"biotype":"protein_coding","hgnc_id":"HGNC:24668","gene_name":"complement factor H related 5","omim_gene":["608593"],"alias_name":["factor H related protein 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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":[],"biotype":"protein_coding","hgnc_id":"HGNC:18276","gene_name":"Sec61 translocon alpha 1 subunit","omim_gene":["609213"],"alias_name":null,"gene_symbol":"SEC61A1","hgnc_symbol":"SEC61A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:127770484-127790526","ensembl_id":"ENSG00000058262"}},"GRch38":{"90":{"location":"3:128051641-128071683","ensembl_id":"ENSG00000058262"}}},"hgnc_date_symbol_changed":"2003-10-13"},"entity_type":"gene","entity_name":"SEC61A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27392076","28782633"],"evidence":["Expert list","Expert Review Green","Expert list"],"phenotypes":["Hyperuricemic nephropathy, familial juvenile, 4, MIM#\t617056","Immunodeficiency, common variable, 15, MIM#\t620670"],"mode_of_inheritance":"MONOALLELIC, autosomal or 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Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.4","version_created":"2025-09-11T18:11:50.640122+10:00","relevant_disorders":["Decreased immunoglobulin level","HP:0041078"],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["OBF1","BOB1"],"biotype":"protein_coding","hgnc_id":"HGNC:9211","gene_name":"POU class 2 associating factor 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Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia \r\n- CVID Phenotype\r\n- Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype\r\n- Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM\r\n- Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.4","version_created":"2025-09-11T18:11:50.640122+10:00","relevant_disorders":["Decreased immunoglobulin level","HP:0041078"],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HIL-10R","CDW210A","CD210a","CD210"],"biotype":"protein_coding","hgnc_id":"HGNC:5964","gene_name":"interleukin 10 receptor subunit 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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":["JM2","XPID","AIID","PIDX","DIETER","SCURFIN"],"biotype":"protein_coding","hgnc_id":"HGNC:6106","gene_name":"forkhead box 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This set of genes is used in UMCCR WTS report \"Immune markers\" section\r\n\r\nSource: https://www.omniseq.com\r\n\r\nGithub: https://github.com/umccr/RNAsum","status":"public","version":"0.77","version_created":"2025-11-03T15:30:48.145923+11:00","relevant_disorders":[],"stats":{"number_of_genes":71,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GNT-II"],"biotype":"protein_coding","hgnc_id":"HGNC:7045","gene_name":"mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase","omim_gene":["602616"],"alias_name":null,"gene_symbol":"MGAT2","hgnc_symbol":"MGAT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:50087489-50090198","ensembl_id":"ENSG00000168282"}},"GRch38":{"90":{"location":"14:49620795-49623481","ensembl_id":"ENSG00000168282"}}},"hgnc_date_symbol_changed":"1993-02-16"},"entity_type":"gene","entity_name":"MGAT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8808595","11228641","22105986","33044030","31420886"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Congenital disorder of glycosylation, type IIa, MIM# 212066","MGAT2-CDG, MONDO:0008908"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ13479"],"biotype":"protein_coding","hgnc_id":"HGNC:25821","gene_name":"zinc finger protein 668","omim_gene":["617103"],"alias_name":null,"gene_symbol":"ZNF668","hgnc_symbol":"ZNF668","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:31072164-31085641","ensembl_id":"ENSG00000167394"}},"GRch38":{"90":{"location":"16:31060843-31074320","ensembl_id":"ENSG00000167394"}}},"hgnc_date_symbol_changed":"2005-03-18"},"entity_type":"gene","entity_name":"ZNF668","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["34313816","26633546"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0645","DEP.5"],"biotype":"protein_coding","hgnc_id":"HGNC:18423","gene_name":"DEP domain containing 5","omim_gene":["614191"],"alias_name":null,"gene_symbol":"DEPDC5","hgnc_symbol":"DEPDC5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:32149944-32303012","ensembl_id":"ENSG00000100150"}},"GRch38":{"90":{"location":"22:31753951-31907034","ensembl_id":"ENSG00000100150"}}},"hgnc_date_symbol_changed":"2004-05-05"},"entity_type":"gene","entity_name":"DEPDC5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31444548","23542697","23542701"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Epilepsy, familial focal, with variable foci 1, MIM#604364"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11200","gene_name":"SRY-box 4","omim_gene":["184430"],"alias_name":null,"gene_symbol":"SOX4","hgnc_symbol":"SOX4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:21593972-21598847","ensembl_id":"ENSG00000124766"}},"GRch38":{"90":{"location":"6:21592768-21598619","ensembl_id":"ENSG00000124766"}}},"hgnc_date_symbol_changed":"1993-11-30"},"entity_type":"gene","entity_name":"SOX4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 30661772"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Coffin-Siris syndrome 10","OMIM #618506"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DENN","KIAA0358","RAB3GEP"],"biotype":"protein_coding","hgnc_id":"HGNC:6766","gene_name":"MAP kinase activating death domain","omim_gene":["603584"],"alias_name":null,"gene_symbol":"MADD","hgnc_symbol":"MADD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:47290712-47351582","ensembl_id":"ENSG00000110514"}},"GRch38":{"90":{"location":"11:47269161-47330031","ensembl_id":"ENSG00000110514"}}},"hgnc_date_symbol_changed":"1999-12-17"},"entity_type":"gene","entity_name":"MADD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28940097","29302074","32761064"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["DEEAH syndrome, MIM#619004 (Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities)","Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia (NEDDISH), MIM# 619005"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10852","gene_name":"serine hydroxymethyltransferase 2","omim_gene":["138450"],"alias_name":null,"gene_symbol":"SHMT2","hgnc_symbol":"SHMT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:57623110-57628718","ensembl_id":"ENSG00000182199"}},"GRch38":{"90":{"location":"12:57229327-57234935","ensembl_id":"ENSG00000182199"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"SHMT2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["33015733"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121","Congenital microcephaly","Infantile axial hypotonia","Spastic paraparesis","Global developmental delay","Intellectual disability","Abnormality of the corpus callosum","Abnormal cortical gyration","Hypertrophic cardiomyopathy","Abnormality of the face","Proximal placement of thumb","2-3 toe syndactyly"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OTRPC4","TRP12","VROAC","VRL-2","VR-OAC","CMT2C"],"biotype":"protein_coding","hgnc_id":"HGNC:18083","gene_name":"transient receptor potential cation channel subfamily V member 4","omim_gene":["605427"],"alias_name":["osmosensitive transient receptor potential channel 4"],"gene_symbol":"TRPV4","hgnc_symbol":"TRPV4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:110220890-110271212","ensembl_id":"ENSG00000111199"}},"GRch38":{"90":{"location":"12:109783085-109833401","ensembl_id":"ENSG00000111199"}}},"hgnc_date_symbol_changed":"2002-01-29"},"entity_type":"gene","entity_name":"TRPV4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review Green","NHS GMS","Victorian Clinical Genetics Services"],"phenotypes":["Digital arthropathy-brachydactyly, familial 606835","Parastremmatic dwarfism 168400","Scapuloperoneal spinal muscular atrophy 181405","SED, Maroteaux type 184095","Brachyolmia type 3 113500","Hereditary motor and sensory neuropathy, type IIc 606071","Spinal muscular atrophy, distal, congenital nonprogressive 600175","Metatropic dysplasia 156530","Spondylometaphyseal dysplasia, Kozlowski type 184252"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Nav1.2","HBSCII","HBSCI"],"biotype":"protein_coding","hgnc_id":"HGNC:10588","gene_name":"sodium voltage-gated channel alpha subunit 2","omim_gene":["182390"],"alias_name":null,"gene_symbol":"SCN2A","hgnc_symbol":"SCN2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:166095912-166248818","ensembl_id":"ENSG00000136531"}},"GRch38":{"90":{"location":"2:165194993-165392310","ensembl_id":"ENSG00000136531"}}},"hgnc_date_symbol_changed":"2007-01-23"},"entity_type":"gene","entity_name":"SCN2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Children's Hospital Neurology Department","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ21839","CCP5"],"biotype":"protein_coding","hgnc_id":"HGNC:26147","gene_name":"ATP/GTP binding protein like 5","omim_gene":["615900"],"alias_name":["cytosolic carboxypeptidase 5"],"gene_symbol":"AGBL5","hgnc_symbol":"AGBL5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:27265232-27293490","ensembl_id":"ENSG00000084693"}},"GRch38":{"90":{"location":"2:27042364-27070622","ensembl_id":"ENSG00000084693"}}},"hgnc_date_symbol_changed":"2007-03-27"},"entity_type":"gene","entity_name":"AGBL5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Retinitis pigmentosa 75 617023"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":277,"hash_id":null,"name":"Retinitis pigmentosa","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.","status":"public","version":"0.245","version_created":"2026-03-28T13:33:23.781842+11:00","relevant_disorders":["Abnormal retinal morphology","HP:0000479"],"stats":{"number_of_genes":159,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5144","gene_name":"hippocalcin","omim_gene":["142622"],"alias_name":null,"gene_symbol":"HPCA","hgnc_symbol":"HPCA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:33351595-33364042","ensembl_id":"ENSG00000121905"}},"GRch38":{"90":{"location":"1:32885994-32898441","ensembl_id":"ENSG00000121905"}}},"hgnc_date_symbol_changed":"1994-12-14"},"entity_type":"gene","entity_name":"HPCA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25799108","30991467","30145809"],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green"],"phenotypes":["Dystonia 2, torsion, autosomal recessive, 224500","MONDO:0009141","childhood-onset generalized dystonia","adolescence-onset segmental dystonia","generalized dystonia with additional neurological features"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SCO1L"],"biotype":"protein_coding","hgnc_id":"HGNC:10604","gene_name":"SCO2, cytochrome c oxidase assembly protein","omim_gene":["604272"],"alias_name":null,"gene_symbol":"SCO2","hgnc_symbol":"SCO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:50961997-50964868","ensembl_id":"ENSG00000130489"}},"GRch38":{"90":{"location":"22:50523568-50525606","ensembl_id":"ENSG00000130489"}}},"hgnc_date_symbol_changed":"1999-10-12"},"entity_type":"gene","entity_name":"SCO2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29351582","31844624","35112411"],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect MONDO:0033850"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LYT-10","p52","p105","NF-kB2","p49/p100"],"biotype":"protein_coding","hgnc_id":"HGNC:7795","gene_name":"nuclear factor kappa B subunit 2","omim_gene":["164012"],"alias_name":null,"gene_symbol":"NFKB2","hgnc_symbol":"NFKB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:104153867-104162281","ensembl_id":"ENSG00000077150"}},"GRch38":{"90":{"location":"10:102394110-102402529","ensembl_id":"ENSG00000077150"}}},"hgnc_date_symbol_changed":"1991-11-14"},"entity_type":"gene","entity_name":"NFKB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["31417880","28778864","27749582"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Immunodeficiency, common variable, 10 MIM#615577"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3089,"hash_id":null,"name":"Ectodermal Dysplasia","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body.\r\n\r\nThis is a consensus panel used by RMH and VCGS.\r\n\r\nPlease refer to the Hair Disorders panel for disorders primarily affecting hair.","status":"public","version":"0.110","version_created":"2026-03-31T16:43:36.155380+11:00","relevant_disorders":["Ectodermal dysplasia","HP:0000968"],"stats":{"number_of_genes":61,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2183","gene_name":"vacuolar protein sorting 13 homolog B","omim_gene":["607817"],"alias_name":null,"gene_symbol":"VPS13B","hgnc_symbol":"VPS13B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:100025494-100889808","ensembl_id":"ENSG00000132549"}},"GRch38":{"90":{"location":"8:99013266-99877580","ensembl_id":"ENSG00000132549"}}},"hgnc_date_symbol_changed":"2005-04-08"},"entity_type":"gene","entity_name":"VPS13B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31580008","24334764"],"evidence":["Expert Review Green","Expert Review Green","Expert list","Expert Review","Victorian Clinical Genetics Services"],"phenotypes":["Cohen syndrome MIM#216550"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.256","version_created":"2026-03-31T19:05:29.271183+11:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":138,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["NTE","sws","iPLA2delta","SPG39"],"biotype":"protein_coding","hgnc_id":"HGNC:16268","gene_name":"patatin like phospholipase domain containing 6","omim_gene":["603197"],"alias_name":["neuropathy target esterase"],"gene_symbol":"PNPLA6","hgnc_symbol":"PNPLA6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:7598890-7626650","ensembl_id":"ENSG00000032444"}},"GRch38":{"90":{"location":"19:7534004-7561764","ensembl_id":"ENSG00000032444"}}},"hgnc_date_symbol_changed":"2006-07-05"},"entity_type":"gene","entity_name":"PNPLA6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25033069"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Oliver-McFarlane syndrome (275400)","Spastic paraplegia 39, autosomal recessive (612020)","Boucher-Neuhauser syndrome (215470)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3236,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.208","version_created":"2026-04-02T15:15:10.893013+11:00","relevant_disorders":["Hypopituitarism","HP:0040075"],"stats":{"number_of_genes":118,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SREBP1","bHLHd1","SREBP-1c","SREBP1a"],"biotype":"protein_coding","hgnc_id":"HGNC:11289","gene_name":"sterol regulatory element binding transcription factor 1","omim_gene":["184756"],"alias_name":null,"gene_symbol":"SREBF1","hgnc_symbol":"SREBF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:17713713-17740325","ensembl_id":"ENSG00000072310"}},"GRch38":{"90":{"location":"17:17810399-17837002","ensembl_id":"ENSG00000072310"}}},"hgnc_date_symbol_changed":"1994-11-23"},"entity_type":"gene","entity_name":"SREBF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32497488","31790666","32902915"],"evidence":["Expert Review Green","Expert Review","Literature"],"phenotypes":["IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016","Mucoepithelial dysplasia, hereditary, MIM#158310"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3269,"hash_id":null,"name":"Hair disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause syndromic and non-syndromic disorders that have hair abnormalities as a prominent feature of the condition. \r\n\r\nThe conditions include: hypotrichosis, hair shaft disorders with/without hair fragility, ectodermal dysplasias, trichorhinophalangeal syndrome, and atrichia with papular lesions.\r\nFor hypertrichosis the Hypertrichosis syndromes gene panel is more suitable.\r\n\r\nThe panel was developed and is maintained by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.84","version_created":"2026-03-30T12:08:41.487037+11:00","relevant_disorders":["Abnormal hair morphology","HP:0001595"],"stats":{"number_of_genes":60,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ETFQO"],"biotype":"protein_coding","hgnc_id":"HGNC:3483","gene_name":"electron transfer flavoprotein dehydrogenase","omim_gene":["231675"],"alias_name":null,"gene_symbol":"ETFDH","hgnc_symbol":"ETFDH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:159593277-159630775","ensembl_id":"ENSG00000171503"}},"GRch38":{"90":{"location":"4:158672125-158709623","ensembl_id":"ENSG00000171503"}}},"hgnc_date_symbol_changed":"1993-12-13"},"entity_type":"gene","entity_name":"ETFDH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24816252","27604308"],"evidence":["MetBioNet","Expert Review Red","NHS GMS"],"phenotypes":["Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II)","Glutaric acidemia IIC","Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))","HCM","ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation)","Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia","Disorders of ubiquinone metabolism and biosynthesis","GLUTARIC ACIDURIA TYPE 2C"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["l1Rk3","l(1)-3Rk","Slac-2a","ln","exophilin-3"],"biotype":"protein_coding","hgnc_id":"HGNC:29643","gene_name":"melanophilin","omim_gene":["606526"],"alias_name":null,"gene_symbol":"MLPH","hgnc_symbol":"MLPH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:238394071-238463961","ensembl_id":"ENSG00000115648"}},"GRch38":{"90":{"location":"2:237485428-237555318","ensembl_id":"ENSG00000115648"}}},"hgnc_date_symbol_changed":"2004-01-09"},"entity_type":"gene","entity_name":"MLPH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Griscelli syndrome type 3"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CS-1"],"biotype":"protein_coding","hgnc_id":"HGNC:1330","gene_name":"myozenin 2","omim_gene":["605602"],"alias_name":null,"gene_symbol":"MYOZ2","hgnc_symbol":"MYOZ2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:120056939-120108944","ensembl_id":"ENSG00000172399"}},"GRch38":{"90":{"location":"4:119135784-119187789","ensembl_id":"ENSG00000172399"}}},"hgnc_date_symbol_changed":"2002-01-11"},"entity_type":"gene","entity_name":"MYOZ2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Cardiomyopathy, hypertrophic"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["osterix","OSX"],"biotype":"protein_coding","hgnc_id":"HGNC:17321","gene_name":"Sp7 transcription factor","omim_gene":["606633"],"alias_name":null,"gene_symbol":"SP7","hgnc_symbol":"SP7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:53720362-53739099","ensembl_id":"ENSG00000170374"}},"GRch38":{"90":{"location":"12:53326575-53345315","ensembl_id":"ENSG00000170374"}}},"hgnc_date_symbol_changed":"2002-09-23"},"entity_type":"gene","entity_name":"SP7","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Osteogenesis imperfecta, type XII"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CYP1","P450c1"],"biotype":"protein_coding","hgnc_id":"HGNC:2606","gene_name":"cytochrome P450 family 27 subfamily B member 1","omim_gene":["609506"],"alias_name":["VDDR I","1alpha(OH)ase","25-Hydroxyvitamin D3 1alpha-hydroxylase"],"gene_symbol":"CYP27B1","hgnc_symbol":"CYP27B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:58156117-58162769","ensembl_id":"ENSG00000111012"}},"GRch38":{"90":{"location":"12:57762334-57768986","ensembl_id":"ENSG00000111012"}}},"hgnc_date_symbol_changed":"1998-03-24"},"entity_type":"gene","entity_name":"CYP27B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Vitamin D-dependent rickets, type I"],"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":["BCD541","SMNT","SMA1","SMA2","SMA3","GEMIN1","TDRD16A"],"biotype":"protein_coding","hgnc_id":"HGNC:11117","gene_name":"survival of motor neuron 1, telomeric","omim_gene":["600354"],"alias_name":["gemin-1","tudor domain containing 16A"],"gene_symbol":"SMN1","hgnc_symbol":"SMN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:70220768-70249769","ensembl_id":"ENSG00000172062"}},"GRch38":{"90":{"location":"5:70925030-70953942","ensembl_id":"ENSG00000172062"}}},"hgnc_date_symbol_changed":"1996-12-12"},"entity_type":"gene","entity_name":"SMN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Spinal muscular atrophy"],"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":["CDHF5"],"biotype":"protein_coding","hgnc_id":"HGNC:3049","gene_name":"desmoglein 2","omim_gene":["125671"],"alias_name":null,"gene_symbol":"DSG2","hgnc_symbol":"DSG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:29078006-29128971","ensembl_id":"ENSG00000046604"}},"GRch38":{"90":{"location":"18:31498043-31549008","ensembl_id":"ENSG00000046604"}}},"hgnc_date_symbol_changed":"1991-11-15"},"entity_type":"gene","entity_name":"DSG2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category B gene"],"phenotypes":["Arrhythmogenic right ventricular cardiomyopathy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4624","gene_name":"glutathione synthetase","omim_gene":["601002"],"alias_name":null,"gene_symbol":"GSS","hgnc_symbol":"GSS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:33516236-33543620","ensembl_id":"ENSG00000100983"}},"GRch38":{"90":{"location":"20:34928430-34955817","ensembl_id":"ENSG00000100983"}}},"hgnc_date_symbol_changed":"1991-05-01"},"entity_type":"gene","entity_name":"GSS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8896573","31198081","29395598","29340523","28267090"],"evidence":["Expert Review Green","Yorkshire and North East GLH","NHS GMS","Wessex and West Midlands GLH","North West GLH","London South GLH"],"phenotypes":["Haemolytic anaemia due to glutathione synthetase deficiency, MIM# 231900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3366,"hash_id":null,"name":"Red cell disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.","status":"public","version":"1.52","version_created":"2026-03-28T15:18:36.006857+11:00","relevant_disorders":["Abnormal erythrocyte morphology","HP:0001877"],"stats":{"number_of_genes":116,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ11457","JBTS11","NPHP12","IFT139B","THM1"],"biotype":"protein_coding","hgnc_id":"HGNC:25660","gene_name":"tetratricopeptide repeat domain 21B","omim_gene":["612014"],"alias_name":null,"gene_symbol":"TTC21B","hgnc_symbol":"TTC21B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:166713985-166810353","ensembl_id":"ENSG00000123607"}},"GRch38":{"90":{"location":"2:165857475-165953843","ensembl_id":"ENSG00000123607"}}},"hgnc_date_symbol_changed":"2005-01-26"},"entity_type":"gene","entity_name":"TTC21B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber"],"phenotypes":["SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY","SRTD4"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8905","gene_name":"phosphoglucomutase 1","omim_gene":["171900"],"alias_name":null,"gene_symbol":"PGM1","hgnc_symbol":"PGM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:64058947-64125916","ensembl_id":"ENSG00000079739"}},"GRch38":{"90":{"location":"1:63593276-63660245","ensembl_id":"ENSG00000079739"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PGM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31563034","26303607","24878975","27206562","29858906","32681750"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type It\t614921","Cleft palate"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. 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and\r\n-- genes associated with the regulation or modification of the imprinting process.","status":"public","version":"1.9","version_created":"2025-11-11T22:13:10.948475+11:00","relevant_disorders":[],"stats":{"number_of_genes":26,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MI","bHLHe32"],"biotype":"protein_coding","hgnc_id":"HGNC:7105","gene_name":"melanogenesis associated transcription factor","omim_gene":["156845"],"alias_name":["homolog of mouse microphthalmia"],"gene_symbol":"MITF","hgnc_symbol":"MITF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:69788586-70017488","ensembl_id":"ENSG00000187098"}},"GRch38":{"90":{"location":"3:69739435-69968337","ensembl_id":"ENSG00000187098"}}},"hgnc_date_symbol_changed":"1993-10-27"},"entity_type":"gene","entity_name":"MITF","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp","NHS Genomic Medicine Service"],"phenotypes":["Tietz albinism-deafness syndrome 103500"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3762,"hash_id":null,"name":"Congenital nystagmus","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with isolated or syndromic nystagmus presenting in infancy or early childhood.","status":"public","version":"1.24","version_created":"2026-01-26T13:26:36.043723+11:00","relevant_disorders":["Nystagmus HP:0000639"],"stats":{"number_of_genes":84,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TMEM226"],"biotype":"protein_coding","hgnc_id":"HGNC:33778","gene_name":"myomaker, myoblast fusion factor","omim_gene":["615345"],"alias_name":["transmembrane protein 226"],"gene_symbol":"MYMK","hgnc_symbol":"MYMK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:136379708-136393734","ensembl_id":"ENSG00000187616"}},"GRch38":{"90":{"location":"9:133514586-133528612","ensembl_id":"ENSG00000187616"}}},"hgnc_date_symbol_changed":"2017-05-11"},"entity_type":"gene","entity_name":"MYMK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28681861"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Carey-Fineman-Ziter syndrome, MONDO:0009700","Carey-Fineman-Ziter syndrome, OMIM:254940"],"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. 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additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1527","gene_name":"caveolin 1","omim_gene":["601047"],"alias_name":null,"gene_symbol":"CAV1","hgnc_symbol":"CAV1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:116164839-116201233","ensembl_id":"ENSG00000105974"}},"GRch38":{"90":{"location":"7:116524785-116561184","ensembl_id":"ENSG00000105974"}}},"hgnc_date_symbol_changed":"1993-11-02"},"entity_type":"gene","entity_name":"CAV1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29704234"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Lipodystrophy, congenital generalized, type 3, MIM#\t612526"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CD127"],"biotype":"protein_coding","hgnc_id":"HGNC:6024","gene_name":"interleukin 7 receptor","omim_gene":["146661"],"alias_name":null,"gene_symbol":"IL7R","hgnc_symbol":"IL7R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:35852797-35879705","ensembl_id":"ENSG00000168685"}},"GRch38":{"90":{"location":"5:35852695-35879603","ensembl_id":"ENSG00000168685"}}},"hgnc_date_symbol_changed":"1991-08-07"},"entity_type":"gene","entity_name":"IL7R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS","Expert list"],"phenotypes":["Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971"],"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":["IGVPB","IGL5","14.1","CD179B"],"biotype":"protein_coding","hgnc_id":"HGNC:5870","gene_name":"immunoglobulin lambda like polypeptide 1","omim_gene":["146770"],"alias_name":["lambda 5"],"gene_symbol":"IGLL1","hgnc_symbol":"IGLL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:23915312-23922495","ensembl_id":"ENSG00000128322"}},"GRch38":{"90":{"location":"22:23573125-23580308","ensembl_id":"ENSG00000128322"}}},"hgnc_date_symbol_changed":"1991-09-12"},"entity_type":"gene","entity_name":"IGLL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Agammaglobulinaemia 2, MIM#\t613500"],"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":["KIAA1345","MKS6","JBTS9"],"biotype":"protein_coding","hgnc_id":"HGNC:29253","gene_name":"coiled-coil and C2 domain containing 2A","omim_gene":["612013"],"alias_name":["Meckel syndrome, type 6"],"gene_symbol":"CC2D2A","hgnc_symbol":"CC2D2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:15471489-15603180","ensembl_id":"ENSG00000048342"}},"GRch38":{"90":{"location":"4:15469865-15601557","ensembl_id":"ENSG00000048342"}}},"hgnc_date_symbol_changed":"2007-10-19"},"entity_type":"gene","entity_name":"CC2D2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18387594","18950740","18513680","18950740","19574260","21725307","33486889","22241855","27081510","30267408"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["COACH syndrome, MIM#216360","Joubert syndrome 9, MIM#612285","Meckel syndrome 6, MIM#612284","Retinitis pigmentosa 93, MIM# 619845"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FOR","WOX1","SDR41C1"],"biotype":"protein_coding","hgnc_id":"HGNC:12799","gene_name":"WW domain containing oxidoreductase","omim_gene":["605131"],"alias_name":["short chain dehydrogenase/reductase family 41C, member 1"],"gene_symbol":"WWOX","hgnc_symbol":"WWOX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:78133310-79246564","ensembl_id":"ENSG00000186153"}},"GRch38":{"90":{"location":"16:78099413-79212667","ensembl_id":"ENSG00000186153"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"WWOX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33916893"],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322","Developmental and epileptic encephalopathy 28, MIM# 616211"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["bA351K16.3","FLJ20627","RMD1"],"biotype":"protein_coding","hgnc_id":"HGNC:21176","gene_name":"required for meiotic nuclear division 1 homolog","omim_gene":["614917"],"alias_name":null,"gene_symbol":"RMND1","hgnc_symbol":"RMND1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:151725989-151773259","ensembl_id":"ENSG00000155906"}},"GRch38":{"90":{"location":"6:151404763-151452181","ensembl_id":"ENSG00000155906"}}},"hgnc_date_symbol_changed":"2006-11-24"},"entity_type":"gene","entity_name":"RMND1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27412952"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Combined oxidative phosphorylation deficiency 11, MIM#614922"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Uae1"],"biotype":"protein_coding","hgnc_id":"HGNC:23657","gene_name":"glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase","omim_gene":["603824"],"alias_name":["bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase"],"gene_symbol":"GNE","hgnc_symbol":"GNE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:36214438-36277053","ensembl_id":"ENSG00000159921"}},"GRch38":{"90":{"location":"9:36214441-36277056","ensembl_id":"ENSG00000159921"}}},"hgnc_date_symbol_changed":"2003-11-28"},"entity_type":"gene","entity_name":"GNE","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["25257349","17549255","25061177","30171045","29941673"],"evidence":["Expert Review Red","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Nonaka myopathy MIM#605820","Thrombocytopenia 12 with or without myopathy MIM#620757"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSS","FLJ11729","PKAN","HARP"],"biotype":"protein_coding","hgnc_id":"HGNC:15894","gene_name":"pantothenate kinase 2","omim_gene":["606157"],"alias_name":["Hallervorden-Spatz syndrome"],"gene_symbol":"PANK2","hgnc_symbol":"PANK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:3869486-3907605","ensembl_id":"ENSG00000125779"}},"GRch38":{"90":{"location":"20:3888839-3929882","ensembl_id":"ENSG00000125779"}}},"hgnc_date_symbol_changed":"2002-09-06"},"entity_type":"gene","entity_name":"PANK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25778941, 11479594, 12510040, 28863176"],"evidence":["Expert Review Green"],"phenotypes":["pantothenate kinase-associated neurodegeneration MONDO:0009319","Disorders of pantothenate and CoA metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4257,"hash_id":null,"name":"Vitamin metabolism disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"The gene panel contains genes that cause inborn errors of vitamin metabolism.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.7","version_created":"2024-09-18T09:35:00.495806+10:00","relevant_disorders":["Abnormality of vitamin metabolism","HP:0100508"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SPANK-2","prosap2","KIAA1650","PSAP2"],"biotype":"protein_coding","hgnc_id":"HGNC:14294","gene_name":"SH3 and multiple ankyrin repeat domains 3","omim_gene":["606230"],"alias_name":["proline rich synapse associated protein 2","shank postsynaptic density protein"],"gene_symbol":"SHANK3","hgnc_symbol":"SHANK3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:51112843-51171726","ensembl_id":"ENSG00000251322"}},"GRch38":{"90":{"location":"22:50674415-50733298","ensembl_id":"ENSG00000251322"}}},"hgnc_date_symbol_changed":"2002-02-22"},"entity_type":"gene","entity_name":"SHANK3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["36117209","33293697"],"evidence":["Expert Review Amber","Expert Review","Expert list"],"phenotypes":["Phelan-McDermid syndrome, MIM# 606232"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4290,"hash_id":null,"name":"Speech apraxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Childhood apraxia of speech (CAS; synonymous with speech apraxia/dyspraxia or verbal apraxia/dyspraxia) is a non-progressive neurodevelopmental disorder with a primary presentation of speech planning and programming disorder.\r\n\r\nCAS involves difficulty producing sequences of sounds with accuracy and correct prosody, resulting in poor speech intelligibility. Individuals with CAS typically have very delayed development of first spoken words. Other common co-occurring features may include fine and gross motor impairment, language impairment, learning difficulties, intellectual disability, autism and attention deficit hyperactivity disorder. Other associated features may include hypotonia, seizures, and facial dysmorphism/dysmorphology.\r\n \r\nPMID: 38366112 summarises three gene discovery cohort studies of individuals with CAS. Diagnostic yield ranged between 26-42%.\r\n\r\nThe aetiology of CAS is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia and Ataxia panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Angela Morgan, Michael Hildebrand, Thomas Scerri, David Amor and team for their contribution to the development of this panel.","status":"public","version":"1.28","version_created":"2026-03-06T16:38:48.591739+11:00","relevant_disorders":[],"stats":{"number_of_genes":35,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RAD51L2","FANCO"],"biotype":"protein_coding","hgnc_id":"HGNC:9820","gene_name":"RAD51 paralog C","omim_gene":["602774"],"alias_name":null,"gene_symbol":"RAD51C","hgnc_symbol":"RAD51C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:56769934-56811703","ensembl_id":"ENSG00000108384"}},"GRch38":{"90":{"location":"17:58692573-58735611","ensembl_id":"ENSG00000108384"}}},"hgnc_date_symbol_changed":"1998-02-26"},"entity_type":"gene","entity_name":"RAD51C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Breast cancer, MONDO:0007254","RAD51C-related cancer predisposition, MONDO:0700273","Breast-ovarian cancer, familial, susceptibility to, 3, MONDO:0013253","Breast-ovarian cancer, familial, susceptibility to, 3, MIM#613399"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4375,"hash_id":null,"name":"Breast Cancer","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.19","version_created":"2026-01-12T09:35:45.451588+11:00","relevant_disorders":[],"stats":{"number_of_genes":29,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["p51","SHFM4","EEC3","p63","p73L","OFC8","KET","p73H","NBP","p53CP"],"biotype":"protein_coding","hgnc_id":"HGNC:15979","gene_name":"tumor protein p63","omim_gene":["603273"],"alias_name":null,"gene_symbol":"TP63","hgnc_symbol":"TP63","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:189349205-189615068","ensembl_id":"ENSG00000073282"}},"GRch38":{"90":{"location":"3:189631416-189897279","ensembl_id":"ENSG00000073282"}}},"hgnc_date_symbol_changed":"2002-04-18"},"entity_type":"gene","entity_name":"TP63","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30924587","35801529","36856110","27798044"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Premature ovarian failure 21, MIM# 620311"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0008","DLG1","HURP"],"biotype":"protein_coding","hgnc_id":"HGNC:16864","gene_name":"DLG associated protein 5","omim_gene":null,"alias_name":null,"gene_symbol":"DLGAP5","hgnc_symbol":"DLGAP5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:55614830-55658396","ensembl_id":"ENSG00000126787"}},"GRch38":{"90":{"location":"14:55148112-55191678","ensembl_id":"ENSG00000126787"}}},"hgnc_date_symbol_changed":"2008-05-30"},"entity_type":"gene","entity_name":"DLGAP5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40796344"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Infertility disorder, MONDO:0005047, DLGAP5-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GRF-1","p190ARhoGAP","P190A","KIAA1722","p190RhoGAP"],"biotype":"protein_coding","hgnc_id":"HGNC:4591","gene_name":"Rho GTPase activating protein 35","omim_gene":["605277"],"alias_name":null,"gene_symbol":"ARHGAP35","hgnc_symbol":"ARHGAP35","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:47421933-47508334","ensembl_id":"ENSG00000160007"}},"GRch38":{"90":{"location":"19:46918676-47005077","ensembl_id":"ENSG00000160007"}}},"hgnc_date_symbol_changed":"2011-06-07"},"entity_type":"gene","entity_name":"ARHGAP35","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 36178483"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4521,"hash_id":null,"name":"Hypogonadotropic hypogonadism","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.","status":"public","version":"0.111","version_created":"2026-04-04T15:37:44.052003+11:00","relevant_disorders":[],"stats":{"number_of_genes":83,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ30899","dJ310J6.1","FLJ34235","bA57L9.1","BROMI"],"biotype":"protein_coding","hgnc_id":"HGNC:21485","gene_name":"TBC1 domain family member 32","omim_gene":["615867"],"alias_name":["broad-minded homolog"],"gene_symbol":"TBC1D32","hgnc_symbol":"TBC1D32","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:121400640-121655891","ensembl_id":"ENSG00000146350"}},"GRch38":{"90":{"location":"6:121079494-121334745","ensembl_id":"ENSG00000146350"}}},"hgnc_date_symbol_changed":"2013-07-10"},"entity_type":"gene","entity_name":"TBC1D32","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32573025","32060556","24285566","31130284","36826837","40319332"],"evidence":["Literature","Expert Review Green","Expert Review Green","Literature"],"phenotypes":["Syndromic hypopituitarism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4521,"hash_id":null,"name":"Hypogonadotropic hypogonadism","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.","status":"public","version":"0.111","version_created":"2026-04-04T15:37:44.052003+11:00","relevant_disorders":[],"stats":{"number_of_genes":83,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC23980","DENNL72"],"biotype":"protein_coding","hgnc_id":"HGNC:28337","gene_name":"chromosome 9 open reading frame 72","omim_gene":["614260"],"alias_name":null,"gene_symbol":"C9orf72","hgnc_symbol":"C9orf72","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:27546544-27573864","ensembl_id":"ENSG00000147894"}},"GRch38":{"90":{"location":"9:27546545-27573866","ensembl_id":"ENSG00000147894"}}},"hgnc_date_symbol_changed":"2004-01-06"},"entity_type":"str","entity_name":"C9orf72_FTDALS_GGGGCC","confidence_level":"3","penetrance":null,"publications":["26166205","24363131","26187722","25577942","21944779","21944778"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"GGGGCC","chromosome":"9","grch37_coordinates":[27573427,27573544],"grch38_coordinates":[27573529,27573546],"normal_repeats":25,"pathogenic_repeats":60,"tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"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":[]}}]}