{"count":36039,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=102","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=100","results":[{"gene_data":{"alias":["perlecan","PRCAN"],"biotype":"protein_coding","hgnc_id":"HGNC:5273","gene_name":"heparan sulfate proteoglycan 2","omim_gene":["142461"],"alias_name":["perlecan proteoglycan"],"gene_symbol":"HSPG2","hgnc_symbol":"HSPG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:22148738-22263790","ensembl_id":"ENSG00000142798"}},"GRch38":{"90":{"location":"1:21822245-21937297","ensembl_id":"ENSG00000142798"}}},"hgnc_date_symbol_changed":"2007-02-16"},"entity_type":"gene","entity_name":"HSPG2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["38424183"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland","Victorian Clinical Genetics Services","Melbourne Genomics Health Alliance Perinatal Autopsy Flagship"],"phenotypes":["Schwartz-Jampel syndrome, type 1, MIM#255800","Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410","Dyssegmental dysplasia, Rolland-Desbuquois type (MONDO:0009139)"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":28,"hash_id":null,"name":"Skeletal Dysplasia_Fetal","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.","status":"public","version":"0.246","version_created":"2026-03-02T10:22:48.751874+11:00","relevant_disorders":[],"stats":{"number_of_genes":157,"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."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2960","gene_name":"deoxyribonuclease 2, lysosomal","omim_gene":["126350"],"alias_name":null,"gene_symbol":"DNASE2","hgnc_symbol":"DNASE2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:12986025-12992282","ensembl_id":"ENSG00000105612"}},"GRch38":{"90":{"location":"19:12875211-12881468","ensembl_id":"ENSG00000105612"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"DNASE2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 29259162, 31775019"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Autoinflammatory-pancytopenia syndrome, MIM#619858"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":56,"hash_id":null,"name":"Bone Marrow Failure","disease_group":"Haematological disorders","disease_sub_group":"","description":"Bone marrow failure (BMF) refers to the decreased production of one or more major haematopoietic lineages which leads to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.","status":"public","version":"1.141","version_created":"2026-03-17T18:48:23.244194+11:00","relevant_disorders":["Abnormality of multiple cell lineages of the bone marrow","HP:0012145"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11191","gene_name":"SRY-box 11","omim_gene":["600898"],"alias_name":["SRY-related HMG-box gene 11"],"gene_symbol":"SOX11","hgnc_symbol":"SOX11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:5832799-5841516","ensembl_id":"ENSG00000176887"}},"GRch38":{"90":{"location":"2:5692667-5701385","ensembl_id":"ENSG00000176887"}}},"hgnc_date_symbol_changed":"1995-06-08"},"entity_type":"gene","entity_name":"SOX11","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["29459093","24886874"],"evidence":["Expert list","Expert Review Amber","Expert Review Amber","Expert list"],"phenotypes":["Congenital abnormalities of the kidneys and urinary tract"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":63,"hash_id":null,"name":"Congenital anomalies of the kidney and urinary tract (CAKUT)","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel contains genes associated with nonsyndromic and syndromic congenital anomalies of the kidney and urinary tract (CAKUT).","status":"public","version":"0.204","version_created":"2026-03-19T13:24:30.325727+11:00","relevant_disorders":["Abnormality of the urinary system HP:0000079"],"stats":{"number_of_genes":124,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:663","gene_name":"arginase 1","omim_gene":["608313"],"alias_name":null,"gene_symbol":"ARG1","hgnc_symbol":"ARG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:131894284-131905472","ensembl_id":"ENSG00000118520"}},"GRch38":{"90":{"location":"6:131573144-131584332","ensembl_id":"ENSG00000118520"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ARG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35505270","34788679"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Argininemia MIM#207800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"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":["FLJ22688","Fy"],"biotype":"protein_coding","hgnc_id":"HGNC:26219","gene_name":"fuzzy planar cell polarity protein","omim_gene":["610622"],"alias_name":null,"gene_symbol":"FUZ","hgnc_symbol":"FUZ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:50310126-50320633","ensembl_id":"ENSG00000010361"}},"GRch38":{"90":{"location":"19:49806869-49817376","ensembl_id":"ENSG00000010361"}}},"hgnc_date_symbol_changed":"2006-06-21"},"entity_type":"gene","entity_name":"FUZ","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38702430, 29068549, 34719684"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ciliopathy_MONDO_0005308, FUZ-related","skeletal ciliopathy"],"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":[]},{"gene_data":{"alias":["PKACa"],"biotype":"protein_coding","hgnc_id":"HGNC:9380","gene_name":"protein kinase cAMP-activated catalytic subunit 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imprinted","tags":[],"panel":{"id":84,"hash_id":null,"name":"Ciliopathies","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory 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":[]},{"gene_data":{"alias":["Ly74","TROP1","GA733-2","EGP34","EGP40","EGP-2","KSA","CD326","Ep-CAM","HEA125","KS1/4","MK-1","MH99","MOC31","323/A3","17-1A","TACST-1","CO-17A","ESA"],"biotype":"protein_coding","hgnc_id":"HGNC:11529","gene_name":"epithelial cell adhesion 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VCGS.","status":"public","version":"0.126","version_created":"2025-10-16T15:50:33.114198+11:00","relevant_disorders":["Gastrointestinal inflammation","HP:0004386"],"stats":{"number_of_genes":85,"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":["MGC16169","HSPC302"],"biotype":"protein_coding","hgnc_id":"HGNC:28261","gene_name":"TBC1 domain containing 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Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP434C245"],"biotype":"protein_coding","hgnc_id":"HGNC:24488","gene_name":"POC1 centriolar protein A","omim_gene":["614783"],"alias_name":null,"gene_symbol":"POC1A","hgnc_symbol":"POC1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:52109269-52188706","ensembl_id":"ENSG00000164087"}},"GRch38":{"90":{"location":"3:52075253-52154690","ensembl_id":"ENSG00000164087"}}},"hgnc_date_symbol_changed":"2010-03-26"},"entity_type":"gene","entity_name":"POC1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22840364","22840363","26374189","26162852","26791357"],"evidence":["Expert Review Green","Victorian Clinical Genetics 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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. 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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KREV-1","SMGP21"],"biotype":"protein_coding","hgnc_id":"HGNC:9855","gene_name":"RAP1A, member of RAS oncogene family","omim_gene":["179520"],"alias_name":null,"gene_symbol":"RAP1A","hgnc_symbol":"RAP1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:112084840-112259313","ensembl_id":"ENSG00000116473"}},"GRch38":{"90":{"location":"1:111542218-111716691","ensembl_id":"ENSG00000116473"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"RAP1A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["26280580"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Kabuki syndrome MONDO:0016512, RAP1A-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC88819","S10"],"biotype":"protein_coding","hgnc_id":"HGNC:10383","gene_name":"ribosomal protein S10","omim_gene":["603632"],"alias_name":null,"gene_symbol":"RPS10","hgnc_symbol":"RPS10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:34385231-34393902","ensembl_id":"ENSG00000124614"}},"GRch38":{"90":{"location":"6:34417454-34426125","ensembl_id":"ENSG00000124614"}}},"hgnc_date_symbol_changed":"1997-07-07"},"entity_type":"gene","entity_name":"RPS10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20116044","23718193","25946618"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Diamond-Blackfan anaemia 9, MIM# 613308"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SYNE-2","DKFZP434H2235","Nesprin-2","NUANCE","NUA","KIAA1011","Nesp2"],"biotype":"protein_coding","hgnc_id":"HGNC:17084","gene_name":"spectrin repeat containing nuclear envelope protein 2","omim_gene":["608442"],"alias_name":["nuclear envelope spectrin repeat-2","nucleus and actin connecting element"],"gene_symbol":"SYNE2","hgnc_symbol":"SYNE2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:64319683-64693165","ensembl_id":"ENSG00000054654"}},"GRch38":{"90":{"location":"14:63852983-64226433","ensembl_id":"ENSG00000054654"}}},"hgnc_date_symbol_changed":"2003-02-19"},"entity_type":"gene","entity_name":"SYNE2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["32184094","17761684","40757551","34573277"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Emery-Dreifuss muscular dystrophy 5, autosomal dominant MIM#612999","Neurodevelopmental disorder, MONDO:0700092, SYNE2 related"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["disputed"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1674","gene_name":"CD3e molecule","omim_gene":["186830"],"alias_name":null,"gene_symbol":"CD3E","hgnc_symbol":"CD3E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118175260-118186890","ensembl_id":"ENSG00000198851"}},"GRch38":{"90":{"location":"11:118304545-118316175","ensembl_id":"ENSG00000198851"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CD3E","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["5546002","28597365","8490660"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency 18 MIM# 615615"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0018","seladin-1"],"biotype":"protein_coding","hgnc_id":"HGNC:2859","gene_name":"24-dehydrocholesterol reductase","omim_gene":["606418"],"alias_name":null,"gene_symbol":"DHCR24","hgnc_symbol":"DHCR24","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:55315306-55352891","ensembl_id":"ENSG00000116133"}},"GRch38":{"90":{"location":"1:54849633-54887218","ensembl_id":"ENSG00000116133"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"DHCR24","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Desmosterolosis, MONDO:0011217"],"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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["E3BP","proX","PDX1","OPDX","DLDBP"],"biotype":"protein_coding","hgnc_id":"HGNC:21350","gene_name":"pyruvate dehydrogenase complex component X","omim_gene":["608769"],"alias_name":null,"gene_symbol":"PDHX","hgnc_symbol":"PDHX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:34937376-35042138","ensembl_id":"ENSG00000110435"}},"GRch38":{"90":{"location":"11:34915829-35020591","ensembl_id":"ENSG00000110435"}}},"hgnc_date_symbol_changed":"2003-06-24"},"entity_type":"gene","entity_name":"PDHX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20002125","34873726","33092611","30981218","25087164","22766002"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Lactic acidaemia due to PDX1 deficiency MIM#245349"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SVMT","SVAT"],"biotype":"protein_coding","hgnc_id":"HGNC:10935","gene_name":"solute carrier family 18 member A2","omim_gene":["193001"],"alias_name":null,"gene_symbol":"SLC18A2","hgnc_symbol":"SLC18A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:119000604-119038941","ensembl_id":"ENSG00000165646"}},"GRch38":{"90":{"location":"10:117241093-117279430","ensembl_id":"ENSG00000165646"}}},"hgnc_date_symbol_changed":"1994-05-25"},"entity_type":"gene","entity_name":"SLC18A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23363473","31240161","26497564"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Parkinsonism-dystonia, infantile, 2, MIM#\t618049"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1037","ADP","DCAF9"],"biotype":"protein_coding","hgnc_id":"HGNC:29175","gene_name":"WD and tetratricopeptide repeats 1","omim_gene":null,"alias_name":["adipose homolog (Drosophila)","DDB1 and CUL4 associated factor 9"],"gene_symbol":"WDTC1","hgnc_symbol":"WDTC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:27561007-27635110","ensembl_id":"ENSG00000142784"}},"GRch38":{"90":{"location":"1:27234516-27308633","ensembl_id":"ENSG00000142784"}}},"hgnc_date_symbol_changed":"2003-12-22"},"entity_type":"gene","entity_name":"WDTC1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["41793087"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder MONDO:0700092, WDTC1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["G17","SN1"],"biotype":"protein_coding","hgnc_id":"HGNC:18044","gene_name":"solute carrier family 38 member 3","omim_gene":["604437"],"alias_name":null,"gene_symbol":"SLC38A3","hgnc_symbol":"SLC38A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:50242679-50258411","ensembl_id":"ENSG00000188338"}},"GRch38":{"90":{"location":"3:50205246-50221486","ensembl_id":"ENSG00000188338"}}},"hgnc_date_symbol_changed":"2002-01-22"},"entity_type":"gene","entity_name":"SLC38A3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["34605855"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 102, MIM# 619881"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ32440","MMS21","NSE2","ZMIZ7"],"biotype":"protein_coding","hgnc_id":"HGNC:26513","gene_name":"NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase","omim_gene":["617246"],"alias_name":["zinc finger, MIZ-type containing 7"],"gene_symbol":"NSMCE2","hgnc_symbol":"NSMCE2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:126103921-126379362","ensembl_id":"ENSG00000156831"}},"GRch38":{"90":{"location":"8:125091679-125367120","ensembl_id":"ENSG00000156831"}}},"hgnc_date_symbol_changed":"2006-07-05"},"entity_type":"gene","entity_name":"NSMCE2","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["25105364"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Seckel syndrome 10, MONDO:0014991"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MED","THBS5"],"biotype":"protein_coding","hgnc_id":"HGNC:2227","gene_name":"cartilage oligomeric matrix protein","omim_gene":["600310"],"alias_name":["thrombospondin-5"],"gene_symbol":"COMP","hgnc_symbol":"COMP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:18893583-18902123","ensembl_id":"ENSG00000105664"}},"GRch38":{"90":{"location":"19:18782773-18791314","ensembl_id":"ENSG00000105664"}}},"hgnc_date_symbol_changed":"1994-05-24"},"entity_type":"gene","entity_name":"COMP","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["20508815","14684695","15880723"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Epiphyseal dysplasia, multiple, 1\tMIM#132400"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0898","POB1","TEF3"],"biotype":"protein_coding","hgnc_id":"HGNC:7523","gene_name":"tripartite motif containing 37","omim_gene":["605073"],"alias_name":["RING-B-box-coiled-coil protein"],"gene_symbol":"TRIM37","hgnc_symbol":"TRIM37","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:57059999-57184282","ensembl_id":"ENSG00000108395"}},"GRch38":{"90":{"location":"17:58982638-59106921","ensembl_id":"ENSG00000108395"}}},"hgnc_date_symbol_changed":"2001-11-30"},"entity_type":"gene","entity_name":"TRIM37","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":155,"hash_id":null,"name":"Peroxisomal Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.61","version_created":"2025-12-31T14:23:29.190009+11:00","relevant_disorders":["Peroxisomal disease","MONDO:0019053"],"stats":{"number_of_genes":32,"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":["S28"],"biotype":"protein_coding","hgnc_id":"HGNC:10418","gene_name":"ribosomal protein S28","omim_gene":["603685"],"alias_name":["40S ribosomal protein S28"],"gene_symbol":"RPS28","hgnc_symbol":"RPS28","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:8386042-8388224","ensembl_id":"ENSG00000233927"}},"GRch38":{"90":{"location":"19:8321158-8323340","ensembl_id":"ENSG00000233927"}}},"hgnc_date_symbol_changed":"1993-12-07"},"entity_type":"gene","entity_name":"RPS28","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24942156"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":163,"hash_id":null,"name":"Radial Ray Abnormalities","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Radial Dysplasia' panel and all differences have been resolved, with reciprocal feedback provided to Genomics England.","status":"public","version":"1.21","version_created":"2026-01-15T11:51:47.687282+11:00","relevant_disorders":["Abnormality of radial ray","HP:0410049"],"stats":{"number_of_genes":62,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10335","FAAP43","Pog"],"biotype":"protein_coding","hgnc_id":"HGNC:20748","gene_name":"Fanconi anemia complementation group L","omim_gene":["608111"],"alias_name":null,"gene_symbol":"FANCL","hgnc_symbol":"FANCL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:58386378-58468507","ensembl_id":"ENSG00000115392"}},"GRch38":{"90":{"location":"2:58159243-58241372","ensembl_id":"ENSG00000115392"}}},"hgnc_date_symbol_changed":"2003-10-15"},"entity_type":"gene","entity_name":"FANCL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19405097","25754594","33394227","33224012"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anemia, complementation group L, MIM# 614083","MONDO:0013566"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":163,"hash_id":null,"name":"Radial Ray Abnormalities","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Radial Dysplasia' panel and all differences have been resolved, with reciprocal feedback provided to Genomics England.","status":"public","version":"1.21","version_created":"2026-01-15T11:51:47.687282+11:00","relevant_disorders":["Abnormality of radial ray","HP:0410049"],"stats":{"number_of_genes":62,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TC21"],"biotype":"protein_coding","hgnc_id":"HGNC:17271","gene_name":"RAS related 2","omim_gene":["600098"],"alias_name":null,"gene_symbol":"RRAS2","hgnc_symbol":"RRAS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:14299472-14386052","ensembl_id":"ENSG00000133818"}},"GRch38":{"90":{"location":"11:14277926-14364506","ensembl_id":"ENSG00000133818"}}},"hgnc_date_symbol_changed":"2001-11-30"},"entity_type":"gene","entity_name":"RRAS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31130282"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Noonan syndrome 12 OMIM #618624"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":164,"hash_id":null,"name":"Rasopathy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the ClinGen Rasopathy Working Group gene-disease validity assessments (PMID: 30311384) and against the Genomics England PanelApp Rasopathies panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"0.113","version_created":"2026-01-26T17:08:48.260163+11:00","relevant_disorders":["Rasopathy","MONDO:0021060"],"stats":{"number_of_genes":32,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["P5","ERp5"],"biotype":"protein_coding","hgnc_id":"HGNC:30168","gene_name":"protein disulfide isomerase family A member 6","omim_gene":["611099"],"alias_name":["protein disulfide isomerase-related protein"],"gene_symbol":"PDIA6","hgnc_symbol":"PDIA6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:10923517-10978103","ensembl_id":"ENSG00000143870"}},"GRch38":{"90":{"location":"2:10783391-10837977","ensembl_id":"ENSG00000143870"}}},"hgnc_date_symbol_changed":"2005-03-03"},"entity_type":"gene","entity_name":"PDIA6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40974269","35856135","33495992"],"evidence":["Expert Review Green","Literature"],"phenotypes":["multiple congenital anomalies, MONDO:0019042, PDIA6-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":193,"hash_id":null,"name":"Renal Ciliopathies and Nephronophthisis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen","status":"public","version":"1.53","version_created":"2026-03-19T17:14:29.802874+11:00","relevant_disorders":["Abnormality of renal medullary morphology","HP:0025361; Renal cyst","HP:0000107"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["a1","Vph1","Stv1"],"biotype":"protein_coding","hgnc_id":"HGNC:865","gene_name":"ATPase H+ transporting V0 subunit a1","omim_gene":["192130"],"alias_name":null,"gene_symbol":"ATP6V0A1","hgnc_symbol":"ATP6V0A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40610862-40674629","ensembl_id":"ENSG00000033627"}},"GRch38":{"90":{"location":"17:42458844-42522611","ensembl_id":"ENSG00000033627"}}},"hgnc_date_symbol_changed":"2002-05-10"},"entity_type":"gene","entity_name":"ATP6V0A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID:34909687"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 104 MIM#619970","Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","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":["AMSH"],"biotype":"protein_coding","hgnc_id":"HGNC:16950","gene_name":"STAM binding protein","omim_gene":["606247"],"alias_name":null,"gene_symbol":"STAMBP","hgnc_symbol":"STAMBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74056086-74100786","ensembl_id":"ENSG00000124356"}},"GRch38":{"90":{"location":"2:73828916-73873659","ensembl_id":"ENSG00000124356"}}},"hgnc_date_symbol_changed":"2004-02-04"},"entity_type":"gene","entity_name":"STAMBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23542699","31638258","29907875","27531570","25692795","25266620"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Microcephaly-capillary malformation syndrome, MIM# 614261","MONDO:0013659"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["THTR2"],"biotype":"protein_coding","hgnc_id":"HGNC:16266","gene_name":"solute carrier family 19 member 3","omim_gene":["606152"],"alias_name":["thiamine transporter 2"],"gene_symbol":"SLC19A3","hgnc_symbol":"SLC19A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:228549926-228582728","ensembl_id":"ENSG00000135917"}},"GRch38":{"90":{"location":"2:227685210-227718012","ensembl_id":"ENSG00000135917"}}},"hgnc_date_symbol_changed":"2001-07-19"},"entity_type":"gene","entity_name":"SLC19A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37670342","23269594","26863430"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) MIM#607483"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1771","ZIR2"],"biotype":"protein_coding","hgnc_id":"HGNC:19190","gene_name":"dedicator of cytokinesis 7","omim_gene":["615730"],"alias_name":null,"gene_symbol":"DOCK7","hgnc_symbol":"DOCK7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:62920399-63153969","ensembl_id":"ENSG00000116641"}},"GRch38":{"90":{"location":"1:62454298-62688368","ensembl_id":"ENSG00000116641"}}},"hgnc_date_symbol_changed":"2003-11-19"},"entity_type":"gene","entity_name":"DOCK7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24814191","30771731","30807358"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Developmental and epileptic encephalopathy 23 MIM#615859","MONDO:0014371"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ14600"],"biotype":"protein_coding","hgnc_id":"HGNC:25903","gene_name":"ATPase family, AAA domain containing 1","omim_gene":["614452"],"alias_name":["thorase"],"gene_symbol":"ATAD1","hgnc_symbol":"ATAD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:89511269-89601100","ensembl_id":"ENSG00000138138"}},"GRch38":{"90":{"location":"10:87751512-87841343","ensembl_id":"ENSG00000138138"}}},"hgnc_date_symbol_changed":"2007-02-08"},"entity_type":"gene","entity_name":"ATAD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28180185","29390050","29659736"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hyperekplexia 4, MIM#618011"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GCSP","NKH"],"biotype":"protein_coding","hgnc_id":"HGNC:4313","gene_name":"glycine decarboxylase","omim_gene":["238300"],"alias_name":["glycine cleavage system protein P","glycine dehydrogenase"],"gene_symbol":"GLDC","hgnc_symbol":"GLDC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:6532464-6645650","ensembl_id":"ENSG00000178445"}},"GRch38":{"90":{"location":"9:6532464-6645783","ensembl_id":"ENSG00000178445"}}},"hgnc_date_symbol_changed":"1992-04-08"},"entity_type":"gene","entity_name":"GLDC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308","2246863","1634607","27362913"],"evidence":["Expert Review Green","NHS GMS","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Glycine encephalopathy (MIM#605899)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["B14","LYRM6","CI-B14","NADHB14"],"biotype":"protein_coding","hgnc_id":"HGNC:7690","gene_name":"NADH:ubiquinone oxidoreductase subunit A6","omim_gene":["602138"],"alias_name":["complex I B14 subunit"],"gene_symbol":"NDUFA6","hgnc_symbol":"NDUFA6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:42481529-42486959","ensembl_id":"ENSG00000184983"}},"GRch38":{"90":{"location":"22:42085525-42090955","ensembl_id":"ENSG00000184983"}}},"hgnc_date_symbol_changed":"1996-08-30"},"entity_type":"gene","entity_name":"NDUFA6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30245030"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 33, MIM#\t618253"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HUS","FHL1","ARMS1","ARMD4"],"biotype":"protein_coding","hgnc_id":"HGNC:4883","gene_name":"complement factor H","omim_gene":["134370"],"alias_name":["beta-1H","H factor 2 (complement)","age-related maculopathy susceptibility 1"],"gene_symbol":"CFH","hgnc_symbol":"CFH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:196621008-196716634","ensembl_id":"ENSG00000000971"}},"GRch38":{"90":{"location":"1:196651878-196747504","ensembl_id":"ENSG00000000971"}}},"hgnc_date_symbol_changed":"2004-08-12"},"entity_type":"gene","entity_name":"CFH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27572114","25814826","20301541","9312129","10803850","29888403","30905644"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["{Haemolytic uremic syndrome, atypical, susceptibility to, 1} MIMI#235400"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":211,"hash_id":null,"name":"Atypical Haemolytic Uraemic Syndrome_MPGN","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"Renal complement disorders panel including atypical Haemolytic Uraemic Syndrome (aHUS) and Membranoproliferative Glomerulonephritis (MPGN).\r\n\r\nThis panel was developed and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS and RMH.\r\n\r\nThe contents of this panel have been compared against the Genomics England PanelApp aHUS and MPGN panels, and discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England. 09/01/2020","status":"public","version":"1.0","version_created":"2026-03-24T16:31:25.995226+11:00","relevant_disorders":["Haemolytic anaemia","HP:0001878"],"stats":{"number_of_genes":16,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"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":["9843216","19890784","26123418","11023514","7964471"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["severe combined immunodeficiency 104 MIM#608971"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.145","version_created":"2026-03-02T21:55:19.238904+11:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FHR2"],"biotype":"protein_coding","hgnc_id":"HGNC:4890","gene_name":"complement factor H related 2","omim_gene":["600889"],"alias_name":null,"gene_symbol":"CFHR2","hgnc_symbol":"CFHR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:196788898-196928356","ensembl_id":"ENSG00000080910"}},"GRch38":{"90":{"location":"1:196943772-196959226","ensembl_id":"ENSG00000080910"}}},"hgnc_date_symbol_changed":"2006-02-28"},"entity_type":"gene","entity_name":"CFHR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24334459","23728178","20800271"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["C3 glomerulopathy","C3G","Immune complex MPGN","IC-MPGN"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["SV/CNV"],"panel":{"id":224,"hash_id":null,"name":"Complement Deficiencies","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains all the genes that are associated with complement deficiencies.\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\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":"1.2","version_created":"2025-10-30T13:50:05.331358+11:00","relevant_disorders":["Abnormality of complement system","HP:0005339"],"stats":{"number_of_genes":34,"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":["HSPC014","UMP1"],"biotype":"protein_coding","hgnc_id":"HGNC:20330","gene_name":"proteasome maturation protein","omim_gene":["613386"],"alias_name":["proteassemblin"],"gene_symbol":"POMP","hgnc_symbol":"POMP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:29233241-29253062","ensembl_id":"ENSG00000132963"}},"GRch38":{"90":{"location":"13:28659104-28678925","ensembl_id":"ENSG00000132963"}}},"hgnc_date_symbol_changed":"2006-07-04"},"entity_type":"gene","entity_name":"POMP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29805043"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Combined immunodeficiency","Autoinflammation"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.43","version_created":"2026-04-06T13:01:39.255117+10:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":118,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["STAT113"],"biotype":"protein_coding","hgnc_id":"HGNC:11363","gene_name":"signal transducer and activator of transcription 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Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2213","gene_name":"collagen type VI alpha 3 chain","omim_gene":["120250"],"alias_name":null,"gene_symbol":"COL6A3","hgnc_symbol":"COL6A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:238232646-238323018","ensembl_id":"ENSG00000163359"}},"GRch38":{"90":{"location":"2:237324003-237414375","ensembl_id":"ENSG00000163359"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL6A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ullrich congenital muscular dystrophy 1, 254090 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MSS1","THDF1","GTPBG3","MTGP1","FLJ14700"],"biotype":"protein_coding","hgnc_id":"HGNC:14880","gene_name":"GTP binding protein 3, mitochondrial","omim_gene":["608536"],"alias_name":null,"gene_symbol":"GTPBP3","hgnc_symbol":"GTPBP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:17445729-17453544","ensembl_id":"ENSG00000130299"}},"GRch38":{"90":{"location":"19:17334920-17342735","ensembl_id":"ENSG00000130299"}}},"hgnc_date_symbol_changed":"2003-11-27"},"entity_type":"gene","entity_name":"GTPBP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Combined oxidative phosphorylation deficiency 23, 616198 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNF205","CMS1D","CMS1E"],"biotype":"protein_coding","hgnc_id":"HGNC:9863","gene_name":"receptor associated protein of the synapse","omim_gene":["601592"],"alias_name":["rapsyn"],"gene_symbol":"RAPSN","hgnc_symbol":"RAPSN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:47459308-47470730","ensembl_id":"ENSG00000165917"}},"GRch38":{"90":{"location":"11:47437757-47449178","ensembl_id":"ENSG00000165917"}}},"hgnc_date_symbol_changed":"1996-03-12"},"entity_type":"gene","entity_name":"RAPSN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Fetal akinesia deformation sequence, 208150 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1766","MTMR13","DENND7B"],"biotype":"protein_coding","hgnc_id":"HGNC:2135","gene_name":"SET binding factor 2","omim_gene":["607697"],"alias_name":["myotubularin related 13"],"gene_symbol":"SBF2","hgnc_symbol":"SBF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:9800214-10315754","ensembl_id":"ENSG00000133812"}},"GRch38":{"90":{"location":"11:9778667-10294207","ensembl_id":"ENSG00000133812"}}},"hgnc_date_symbol_changed":"2004-11-12"},"entity_type":"gene","entity_name":"SBF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Charcot-Marie-Tooth disease, type 4B2, 604563 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RYR","PPP1R137"],"biotype":"protein_coding","hgnc_id":"HGNC:10483","gene_name":"ryanodine receptor 1","omim_gene":["180901"],"alias_name":["protein phosphatase 1, regulatory subunit 137"],"gene_symbol":"RYR1","hgnc_symbol":"RYR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:38924339-39078204","ensembl_id":"ENSG00000196218"}},"GRch38":{"90":{"location":"19:38433699-38587564","ensembl_id":"ENSG00000196218"}}},"hgnc_date_symbol_changed":"1989-12-01"},"entity_type":"gene","entity_name":"RYR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30499100"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["{Malignant hyperthermia susceptibility 1}\t145600"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3271,"hash_id":null,"name":"Pharmacogenomics_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is under development, to be used by the Australian Genomics Acute Care Flagship.","status":"public","version":"0.50","version_created":"2020-08-27T20:53:11.205850+10:00","relevant_disorders":[],"stats":{"number_of_genes":17,"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":[]},{"gene_data":{"alias":["EAR-7.1/EAR-7.2","THRA3","AR7","ERBA","NR1A1"],"biotype":"protein_coding","hgnc_id":"HGNC:11796","gene_name":"thyroid hormone receptor, alpha","omim_gene":["190120"],"alias_name":null,"gene_symbol":"THRA","hgnc_symbol":"THRA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:38214543-38250120","ensembl_id":"ENSG00000126351"}},"GRch38":{"90":{"location":"17:40058290-40093867","ensembl_id":"ENSG00000126351"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"THRA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Hypothyroidism, congenital, nongoitrous, 6"],"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":["DBM"],"biotype":"protein_coding","hgnc_id":"HGNC:2689","gene_name":"dopamine beta-hydroxylase","omim_gene":["609312"],"alias_name":["dopamine beta-monooxygenase"],"gene_symbol":"DBH","hgnc_symbol":"DBH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:136501482-136524466","ensembl_id":"ENSG00000123454"}},"GRch38":{"90":{"location":"9:133636360-133659344","ensembl_id":"ENSG00000123454"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"DBH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Dopamine beta-hydroxylase deficiency"],"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":["XAP101","dyskerin","NAP57","NOLA4","Cbf5"],"biotype":"protein_coding","hgnc_id":"HGNC:2890","gene_name":"dyskerin pseudouridine synthase 1","omim_gene":["300126"],"alias_name":["H/ACA ribonucleoprotein complex subunit 4"],"gene_symbol":"DKC1","hgnc_symbol":"DKC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153991031-154005964","ensembl_id":"ENSG00000130826"}},"GRch38":{"90":{"location":"X:154762742-154777689","ensembl_id":"ENSG00000130826"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"DKC1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category B gene"],"phenotypes":["Dyskeratosis congenita"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["KIAA0028","LEURS","MGC26121","mtLeuRS"],"biotype":"protein_coding","hgnc_id":"HGNC:17095","gene_name":"leucyl-tRNA synthetase 2, mitochondrial","omim_gene":["604544"],"alias_name":["leucine tRNA ligase 2, mitochondrial"],"gene_symbol":"LARS2","hgnc_symbol":"LARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:45429998-45590913","ensembl_id":"ENSG00000011376"}},"GRch38":{"90":{"location":"3:45388506-45549421","ensembl_id":"ENSG00000011376"}}},"hgnc_date_symbol_changed":"2003-09-01"},"entity_type":"gene","entity_name":"LARS2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["26537577","32442335"],"evidence":["Expert Review Amber","Wessex and West Midlands GLH","NHS GMS"],"phenotypes":["Hydrops, lactic acidosis, and sideroblastic anaemia MIM# 617021"],"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":["PEPCK-C"],"biotype":"protein_coding","hgnc_id":"HGNC:8724","gene_name":"phosphoenolpyruvate carboxykinase 1","omim_gene":["614168"],"alias_name":null,"gene_symbol":"PCK1","hgnc_symbol":"PCK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:56136136-56141513","ensembl_id":"ENSG00000124253"}},"GRch38":{"90":{"location":"20:57561080-57568112","ensembl_id":"ENSG00000124253"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"PCK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24863970","28216384","26971250","27604308"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Phosphoenolpyruvate carboxykinase deficiency, cytosolic MIM#261680","Disorders of gluconeogenesis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GAP","CM-AVM","p120GAP","p120RASGAP","p120"],"biotype":"protein_coding","hgnc_id":"HGNC:9871","gene_name":"RAS p21 protein activator 1","omim_gene":["139150"],"alias_name":["capillary malformation-arteriovenous malformation","p120 RAS GTPase activating protein"],"gene_symbol":"RASA1","hgnc_symbol":"RASA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:86563705-86687748","ensembl_id":"ENSG00000145715"}},"GRch38":{"90":{"location":"5:87267888-87391931","ensembl_id":"ENSG00000145715"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"RASA1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["30635911","24038909"],"evidence":["Expert Review Amber","Genomics England PanelApp","NHS GMS"],"phenotypes":["Capillary malformation-arteriovenous malformation syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3472,"hash_id":null,"name":"Mosaic skin disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"1.15","version_created":"2025-11-28T10:17:48.863556+11:00","relevant_disorders":["Abnormality of skin pigmentation","HP:0001000"],"stats":{"number_of_genes":44,"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":"Tasmanian Clinical Genetics Service","slug":"tasmanian-clinical-genetics-service","description":"Tasmanian Clinical Genetics Service"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["nM15"],"biotype":"protein_coding","hgnc_id":"HGNC:6814","gene_name":"MAGE family member L2","omim_gene":["605283"],"alias_name":null,"gene_symbol":"MAGEL2","hgnc_symbol":"MAGEL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:23888691-23891175","ensembl_id":"ENSG00000254585"}},"GRch38":{"90":{"location":"15:23643544-23647841","ensembl_id":"ENSG00000254585"}}},"hgnc_date_symbol_changed":"1999-10-29"},"entity_type":"gene","entity_name":"MAGEL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24076603","31397880","29599419","30302899"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Schaaf-Yang syndrome, MIM# 615547","Chitayat-Hall Syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","tags":[],"panel":{"id":3663,"hash_id":null,"name":"Imprinting disorders","disease_group":"","disease_sub_group":"","description":"This panel includes:\r\n-- genes that are subject to imprinting, and where SNVs/CNVs cause disease; 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":["FLJ11830","RNF70"],"biotype":"protein_coding","hgnc_id":"HGNC:16648","gene_name":"praja ring finger ubiquitin ligase 1","omim_gene":["300420"],"alias_name":null,"gene_symbol":"PJA1","hgnc_symbol":"PJA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:68380694-68385636","ensembl_id":"ENSG00000181191"}},"GRch38":{"90":{"location":"X:69160851-69165793","ensembl_id":"ENSG00000181191"}}},"hgnc_date_symbol_changed":"2001-12-07"},"entity_type":"gene","entity_name":"PJA1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32530565"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["X-linked complex neurodevelopmental disorder, PJA1-related, MONDO:0100148"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HLP","DDX13","SKI2W","170A","SKIV2L1"],"biotype":"protein_coding","hgnc_id":"HGNC:10898","gene_name":"Ski2 like RNA helicase","omim_gene":["600478"],"alias_name":null,"gene_symbol":"SKIV2L","hgnc_symbol":"SKIV2L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31926857-31937532","ensembl_id":"ENSG00000204351"}},"GRch38":{"90":{"location":"6:31959080-31969755","ensembl_id":"ENSG00000204351"}}},"hgnc_date_symbol_changed":"1995-07-06"},"entity_type":"gene","entity_name":"SKIV2L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Trichohepatoenteric syndrome 2, MIM#614602"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["VATB","RTA1B","Vma2"],"biotype":"protein_coding","hgnc_id":"HGNC:853","gene_name":"ATPase H+ transporting V1 subunit B1","omim_gene":["192132"],"alias_name":["Renal tubular acidosis with deafness"],"gene_symbol":"ATP6V1B1","hgnc_symbol":"ATP6V1B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:71163012-71192536","ensembl_id":"ENSG00000116039"}},"GRch38":{"90":{"location":"2:70935882-70965406","ensembl_id":"ENSG00000116039"}}},"hgnc_date_symbol_changed":"2002-05-10"},"entity_type":"gene","entity_name":"ATP6V1B1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FACE-1","Ste24p","STE24","HGPS","PRO1"],"biotype":"protein_coding","hgnc_id":"HGNC:12877","gene_name":"zinc metallopeptidase STE24","omim_gene":["606480"],"alias_name":["Hutchinson-Gilford progeria syndrome","CAAX prenyl protease 1 homolog"],"gene_symbol":"ZMPSTE24","hgnc_symbol":"ZMPSTE24","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:40723779-40759856","ensembl_id":"ENSG00000084073"}},"GRch38":{"90":{"location":"1:40258107-40294184","ensembl_id":"ENSG00000084073"}}},"hgnc_date_symbol_changed":"1999-09-17"},"entity_type":"gene","entity_name":"ZMPSTE24","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11923874","22718200","29794150","29208544","12913070","27410998","27409638","15937076","16671095","22718200","29794150","24169522"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612","MONDO:0012074","Restrictive dermopathy, lethal, MIM# 275210","MONDO:0010143"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RET1"],"biotype":"protein_coding","hgnc_id":"HGNC:1975","gene_name":"visual system homeobox 2","omim_gene":["142993"],"alias_name":null,"gene_symbol":"VSX2","hgnc_symbol":"VSX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:74706175-74729441","ensembl_id":"ENSG00000119614"}},"GRch38":{"90":{"location":"14:74239472-74262738","ensembl_id":"ENSG00000119614"}}},"hgnc_date_symbol_changed":"2007-08-21"},"entity_type":"gene","entity_name":"VSX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15257456","17661825","31884615","28121235","27301076","24033328"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Microphthalmia with coloboma 3, MIM# 610092","Microphthalmia, isolated 2, MIM# 610093"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9608","gene_name":"parathyroid hormone 1 receptor","omim_gene":["168468"],"alias_name":null,"gene_symbol":"PTH1R","hgnc_symbol":"PTH1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:46919236-46945287","ensembl_id":"ENSG00000160801"}},"GRch38":{"90":{"location":"3:46877746-46903799","ensembl_id":"ENSG00000160801"}}},"hgnc_date_symbol_changed":"2008-11-18"},"entity_type":"gene","entity_name":"PTH1R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["3975110","9268097","8723092"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Chondrodysplasia, Blomstrand type, MIM#\t215045"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0328"],"biotype":"protein_coding","hgnc_id":"HGNC:428","gene_name":"ALMS1, centrosome and basal body associated protein","omim_gene":["606844"],"alias_name":null,"gene_symbol":"ALMS1","hgnc_symbol":"ALMS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:73612886-73837920","ensembl_id":"ENSG00000116127"}},"GRch38":{"90":{"location":"2:73385758-73610793","ensembl_id":"ENSG00000116127"}}},"hgnc_date_symbol_changed":"1998-10-12"},"entity_type":"gene","entity_name":"ALMS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Alstrom syndrome, OMIM:203800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3764,"hash_id":null,"name":"Severe early-onset obesity","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with syndromic and non-syndromic causes of severe, early-onset obesity (weight >3 standard deviations above the mean, with onset before the age of 5 years).\r\n\r\nIf other growth parameters are affected, please consider the Overgrowth and the Macrocephaly_Megalencephaly panels.","status":"public","version":"1.30","version_created":"2026-03-18T15:16:42.995334+11:00","relevant_disorders":["Obesity","HP:0001513"],"stats":{"number_of_genes":59,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anaemia, complementation group B, MIM# 300514"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3829,"hash_id":null,"name":"IBMDx study","disease_group":"","disease_sub_group":"","description":"The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2,  BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.","status":"public","version":"0.42","version_created":"2026-03-19T18:45:41.236506+11:00","relevant_disorders":[],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Research","slug":"research","description":"Research panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NFE1B"],"biotype":"protein_coding","hgnc_id":"HGNC:4171","gene_name":"GATA binding protein 2","omim_gene":["137295"],"alias_name":null,"gene_symbol":"GATA2","hgnc_symbol":"GATA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:128198270-128212028","ensembl_id":"ENSG00000179348"}},"GRch38":{"90":{"location":"3:128479427-128493185","ensembl_id":"ENSG00000179348"}}},"hgnc_date_symbol_changed":"1992-11-03"},"entity_type":"gene","entity_name":"GATA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982","Immunodeficiency 21, MIM# 614172","Emberger syndrome, MIM# 614038","Deafness-lymphoedema-leukaemia syndrome MONDO:0013540"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3829,"hash_id":null,"name":"IBMDx study","disease_group":"","disease_sub_group":"","description":"The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2,  BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.","status":"public","version":"0.42","version_created":"2026-03-19T18:45:41.236506+11:00","relevant_disorders":[],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Research","slug":"research","description":"Research panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NIMP"],"biotype":"protein_coding","hgnc_id":"HGNC:18647","gene_name":"reticulon 4 interacting protein 1","omim_gene":["610502"],"alias_name":null,"gene_symbol":"RTN4IP1","hgnc_symbol":"RTN4IP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:107018903-107077373","ensembl_id":"ENSG00000130347"}},"GRch38":{"90":{"location":"6:106571971-106629487","ensembl_id":"ENSG00000130347"}}},"hgnc_date_symbol_changed":"2002-05-23"},"entity_type":"gene","entity_name":"RTN4IP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures MIM#616732"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8854","gene_name":"peroxisomal biogenesis factor 12","omim_gene":["601758"],"alias_name":null,"gene_symbol":"PEX12","hgnc_symbol":"PEX12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:33901814-33905882","ensembl_id":"ENSG00000108733"}},"GRch38":{"90":{"location":"17:35574795-35578863","ensembl_id":"ENSG00000108733"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PEX12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Peroxisome biogenesis disorder 3A (Zellweger), MIM#614859","Peroxisome biogenesis disorder 3B, MIM#266510"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MANA-ER","MRT15","ERManI"],"biotype":"protein_coding","hgnc_id":"HGNC:6823","gene_name":"mannosidase alpha class 1B member 1","omim_gene":["604346"],"alias_name":["endoplasmic reticulum alpha-mannosidase 1","alpha 1,2-mannosidase","endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1","ER alpha 1,2-mannosidase","Man9GlcNAc2-specific processing alpha-mannosidase","endoplasmic Reticulum Class I alpha-mannosidase"],"gene_symbol":"MAN1B1","hgnc_symbol":"MAN1B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139981379-140003635","ensembl_id":"ENSG00000177239"}},"GRch38":{"90":{"location":"9:137086927-137109187","ensembl_id":"ENSG00000177239"}}},"hgnc_date_symbol_changed":"1999-09-28"},"entity_type":"gene","entity_name":"MAN1B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21763484","26279649","20345473"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Rafiq syndrome, MIM# 614202"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ORC1","D13S327"],"biotype":"protein_coding","hgnc_id":"HGNC:10985","gene_name":"solute carrier family 25 member 15","omim_gene":["603861"],"alias_name":["ornithine transporter 1"],"gene_symbol":"SLC25A15","hgnc_symbol":"SLC25A15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:41363548-41384247","ensembl_id":"ENSG00000102743"}},"GRch38":{"90":{"location":"13:40789412-40810111","ensembl_id":"ENSG00000102743"}}},"hgnc_date_symbol_changed":"1999-06-28"},"entity_type":"gene","entity_name":"SLC25A15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10369256","19242930"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hyperornithinaemia-hyperammonaemia-homocitrullinemia syndrome, MIM#238970"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3771","gene_name":"flavin containing monooxygenase 3","omim_gene":["136132"],"alias_name":null,"gene_symbol":"FMO3","hgnc_symbol":"FMO3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:171060018-171086959","ensembl_id":"ENSG00000007933"}},"GRch38":{"90":{"location":"1:171090877-171117819","ensembl_id":"ENSG00000007933"}}},"hgnc_date_symbol_changed":"1992-10-16"},"entity_type":"gene","entity_name":"FMO3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31317802","28649550"],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["trimethylaminuria MONDO:0011182"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PFP","P1","HPLH2"],"biotype":"protein_coding","hgnc_id":"HGNC:9360","gene_name":"perforin 1","omim_gene":["170280"],"alias_name":["Perforin","perforin 1 (preforming protein)"],"gene_symbol":"PRF1","hgnc_symbol":"PRF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:72357104-72362531","ensembl_id":"ENSG00000180644"}},"GRch38":{"90":{"location":"10:70597348-70602775","ensembl_id":"ENSG00000180644"}}},"hgnc_date_symbol_changed":"1989-02-23"},"entity_type":"gene","entity_name":"PRF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Haemophagocytic lymphohistiocytosis, familial, 2, MIM#603553"],"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":["CILD6","SPTRX2","NM23-H8"],"biotype":"protein_coding","hgnc_id":"HGNC:16473","gene_name":"NME/NM23 family member 8","omim_gene":["607421"],"alias_name":["sperm-specific thioredoxin 2"],"gene_symbol":"NME8","hgnc_symbol":"NME8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:37888199-37940003","ensembl_id":"ENSG00000086288"}},"GRch38":{"90":{"location":"7:37848597-37900401","ensembl_id":"ENSG00000086288"}}},"hgnc_date_symbol_changed":"2012-05-18"},"entity_type":"gene","entity_name":"NME8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Ciliary dyskinesia, primary"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NBC1","HNBC1","NBC2","pNBC","hhNMC"],"biotype":"protein_coding","hgnc_id":"HGNC:11030","gene_name":"solute carrier family 4 member 4","omim_gene":["603345"],"alias_name":null,"gene_symbol":"SLC4A4","hgnc_symbol":"SLC4A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:72053003-72437804","ensembl_id":"ENSG00000080493"}},"GRch38":{"90":{"location":"4:71186757-71572087","ensembl_id":"ENSG00000080493"}}},"hgnc_date_symbol_changed":"1998-12-11"},"entity_type":"gene","entity_name":"SLC4A4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["for review"],"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":["KIAA0155","TSBP","p150TSP"],"biotype":"protein_coding","hgnc_id":"HGNC:16850","gene_name":"CTR9 homolog, Paf1/RNA polymerase II complex component","omim_gene":["609366"],"alias_name":null,"gene_symbol":"CTR9","hgnc_symbol":"CTR9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:10772534-10801290","ensembl_id":"ENSG00000198730"}},"GRch38":{"90":{"location":"11:10750987-10779743","ensembl_id":"ENSG00000198730"}}},"hgnc_date_symbol_changed":"2006-05-22"},"entity_type":"gene","entity_name":"CTR9","confidence_level":"1","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":["PMID: 32412586"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Wilms tumour predisposition"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["cancer"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:870","gene_name":"ATPase copper transporting beta","omim_gene":["606882"],"alias_name":["Wilson disease","copper pump 2","copper-transporting ATPase 2"],"gene_symbol":"ATP7B","hgnc_symbol":"ATP7B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:52506809-52585630","ensembl_id":"ENSG00000123191"}},"GRch38":{"90":{"location":"13:51930436-52012125","ensembl_id":"ENSG00000123191"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ATP7B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Wilson disease MIM#277900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1667","LE","BLOC3S2"],"biotype":"protein_coding","hgnc_id":"HGNC:15844","gene_name":"HPS4, biogenesis of lysosomal organelles complex 3 subunit 2","omim_gene":["606682"],"alias_name":null,"gene_symbol":"HPS4","hgnc_symbol":"HPS4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:26839389-26879803","ensembl_id":"ENSG00000100099"}},"GRch38":{"90":{"location":"22:26443423-26483837","ensembl_id":"ENSG00000100099"}}},"hgnc_date_symbol_changed":"2001-06-28"},"entity_type":"gene","entity_name":"HPS4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Hermansky-Pudlak syndrome 4, MIM# 614073"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1915"],"biotype":"protein_coding","hgnc_id":"HGNC:29401","gene_name":"Myb like, SWIRM and MPN domains 1","omim_gene":["612176"],"alias_name":null,"gene_symbol":"MYSM1","hgnc_symbol":"MYSM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:59120411-59165764","ensembl_id":"ENSG00000162601"}},"GRch38":{"90":{"location":"1:58654739-58700092","ensembl_id":"ENSG00000162601"}}},"hgnc_date_symbol_changed":"2005-07-14"},"entity_type":"gene","entity_name":"MYSM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Bone marrow failure syndrome 4, MIM#\t618116"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","haematological"],"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":["RYR","PPP1R137"],"biotype":"protein_coding","hgnc_id":"HGNC:10483","gene_name":"ryanodine receptor 1","omim_gene":["180901"],"alias_name":["protein phosphatase 1, regulatory subunit 137"],"gene_symbol":"RYR1","hgnc_symbol":"RYR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:38924339-39078204","ensembl_id":"ENSG00000196218"}},"GRch38":{"90":{"location":"19:38433699-38587564","ensembl_id":"ENSG00000196218"}}},"hgnc_date_symbol_changed":"1989-12-01"},"entity_type":"gene","entity_name":"RYR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance"],"phenotypes":["{Malignant hyperthermia susceptibility 1}, MIM#145600"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12726","gene_name":"von Willebrand factor","omim_gene":["613160"],"alias_name":null,"gene_symbol":"VWF","hgnc_symbol":"VWF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:6058040-6233936","ensembl_id":"ENSG00000110799"}},"GRch38":{"90":{"location":"12:5948874-6124770","ensembl_id":"ENSG00000110799"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"VWF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["von Willebrand disease, type 1, MIM#193400","von Willibrand disease, type 3, MIM#277480","von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM#613554"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TEL"],"biotype":"protein_coding","hgnc_id":"HGNC:3495","gene_name":"ETS variant 6","omim_gene":["600618"],"alias_name":["TEL oncogene"],"gene_symbol":"ETV6","hgnc_symbol":"ETV6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:11802788-12048336","ensembl_id":"ENSG00000139083"}},"GRch38":{"90":{"location":"12:11649854-11895402","ensembl_id":"ENSG00000139083"}}},"hgnc_date_symbol_changed":"1995-11-28"},"entity_type":"gene","entity_name":"ETV6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25807284","25581430"],"evidence":["Expert list","Expert Review Green"],"phenotypes":["Thrombocytopaenia 5, MIM# 616216"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RX"],"biotype":"protein_coding","hgnc_id":"HGNC:18662","gene_name":"retina and anterior neural fold homeobox","omim_gene":["601881"],"alias_name":null,"gene_symbol":"RAX","hgnc_symbol":"RAX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:56934267-56941318","ensembl_id":"ENSG00000134438"}},"GRch38":{"90":{"location":"18:59267035-59274086","ensembl_id":"ENSG00000134438"}}},"hgnc_date_symbol_changed":"2002-05-22"},"entity_type":"gene","entity_name":"RAX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14662654","18783408","30811539","24033328","22736936","28831107"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Microphthalmia, syndromic 16, MIM #611038"],"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":["FLJ20265","GPI7","LAS21"],"biotype":"protein_coding","hgnc_id":"HGNC:25985","gene_name":"phosphatidylinositol glycan anchor biosynthesis class G","omim_gene":["616918"],"alias_name":null,"gene_symbol":"PIGG","hgnc_symbol":"PIGG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:492989-533985","ensembl_id":"ENSG00000174227"}},"GRch38":{"90":{"location":"4:499210-540196","ensembl_id":"ENSG00000174227"}}},"hgnc_date_symbol_changed":"2006-02-08"},"entity_type":"gene","entity_name":"PIGG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26996948"],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy\tMIM#616917"],"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":["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":["7813012","23788250","39062735","29904179","33531827"],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11023","gene_name":"solute carrier family 35 member A3","omim_gene":["605632"],"alias_name":null,"gene_symbol":"SLC35A3","hgnc_symbol":"SLC35A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:100435345-100492535","ensembl_id":"ENSG00000117620"}},"GRch38":{"90":{"location":"1:99969351-100035637","ensembl_id":"ENSG00000117620"}}},"hgnc_date_symbol_changed":"1999-10-05"},"entity_type":"gene","entity_name":"SLC35A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28777481","24031089","28328131"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Arthrogryposis, impaired intellectual development, and seizures MIM#615553"],"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":["KIAA0042"],"biotype":"protein_coding","hgnc_id":"HGNC:19181","gene_name":"kinesin family member 14","omim_gene":["611279"],"alias_name":null,"gene_symbol":"KIF14","hgnc_symbol":"KIF14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:200520628-200589862","ensembl_id":"ENSG00000118193"}},"GRch38":{"90":{"location":"1:200551497-200620734","ensembl_id":"ENSG00000118193"}}},"hgnc_date_symbol_changed":"2002-09-12"},"entity_type":"gene","entity_name":"KIF14","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["24128419","30388224"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Meckel syndrome 12, MIM# 616258"],"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":"1.143","version_created":"2026-04-13T17:24:02.975530+10:00","relevant_disorders":[],"stats":{"number_of_genes":265,"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":["JP-3","CAGL237","HDL2","JP3"],"biotype":"protein_coding","hgnc_id":"HGNC:14203","gene_name":"junctophilin 3","omim_gene":["605268"],"alias_name":null,"gene_symbol":"JPH3","hgnc_symbol":"JPH3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:87635441-87731762","ensembl_id":"ENSG00000154118"}},"GRch38":{"90":{"location":"16:87601835-87698156","ensembl_id":"ENSG00000154118"}}},"hgnc_date_symbol_changed":"2000-12-08"},"entity_type":"str","entity_name":"JPH3_HDL2_CTG","confidence_level":"3","penetrance":null,"publications":["20301701"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Huntington disease-like 2 MIM#606438"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CTG","chromosome":"16","grch37_coordinates":[87637894,87637935],"grch38_coordinates":[87604288,87604329],"normal_repeats":28,"pathogenic_repeats":40,"tags":[],"panel":{"id":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":"1.4741","version_created":"2026-04-13T17:23:32.780216+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":{"alias":["ISSX","CT121","EIEE1"],"biotype":"protein_coding","hgnc_id":"HGNC:18060","gene_name":"aristaless related homeobox","omim_gene":["300382"],"alias_name":["cancer/testis antigen 121"],"gene_symbol":"ARX","hgnc_symbol":"ARX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:25021811-25034065","ensembl_id":"ENSG00000004848"}},"GRch38":{"90":{"location":"X:25003694-25016420","ensembl_id":"ENSG00000004848"}}},"hgnc_date_symbol_changed":"2002-02-11"},"entity_type":"str","entity_name":"ARX_EIEE1_GCN2","confidence_level":"3","penetrance":null,"publications":["11889467","33811808"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Developmental and epileptic encephalopathy 1 MIM#308350","Intellectual disability, X-linked 29 and others MIM#300419","Partington syndrome MIM#309510"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","repeated_sequence":"GCN","chromosome":"X","grch37_coordinates":[25031647,25031682],"grch38_coordinates":[25013530,25013565],"normal_repeats":12,"pathogenic_repeats":20,"tags":["paediatric-onset"],"panel":{"id":3597,"hash_id":null,"name":"Repeat Disorders","disease_group":"","disease_sub_group":"","description":"This panel contains reported short tandem repeat (STR) expansion disorders. The naming convention of the STRs is based on the name of the condition or fragile site that the expansion is associated with. \r\nThe panel was developed by RMH and WEHI, and is maintained by RMH.\r\n\r\nThis panel is used as a research panel by the Australian Genomics Acute Care study.","status":"public","version":"0.272","version_created":"2026-01-02T15:16:39.779953+11:00","relevant_disorders":[],"stats":{"number_of_genes":0,"number_of_strs":76,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]}}]}