{"count":36038,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=87","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=85","results":[{"gene_data":{"alias":["PRSMG1","GCPL1","OSGEP1","KAE1","TCS3"],"biotype":"protein_coding","hgnc_id":"HGNC:18028","gene_name":"O-sialoglycoprotein endopeptidase","omim_gene":["610107"],"alias_name":null,"gene_symbol":"OSGEP","hgnc_symbol":"OSGEP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:20914570-20923264","ensembl_id":"ENSG00000092094"}},"GRch38":{"90":{"location":"14:20446411-20455105","ensembl_id":"ENSG00000092094"}}},"hgnc_date_symbol_changed":"2002-01-23"},"entity_type":"gene","entity_name":"OSGEP","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["PMID: 30558655"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Galloway-Mowat syndrome 3, MIM#617729"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":15,"hash_id":null,"name":"Lissencephaly and Band Heterotopia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Brain Malformations flagship, and is maintained by VCGS. It is a consensus panel used by RMH.\r\n\r\nIt contains genes associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri, either occurring in isolation or as part of a more complex disorder. The spectrum of lissencephaly ranges from absent (agyria) or decreased (pachygyria) convolutions of the cortex to less severe malformation known as subcortical band heterotopia.\r\n\r\nPlease also consider the Cobblestone Malformations panel and the broader Malformations of cortical development superpanel if features are not entirely typical.","status":"public","version":"1.30","version_created":"2026-01-19T11:50:01.984105+11:00","relevant_disorders":["Lissencephaly HP:0001339;Subcortical band heterotopia HP:0032409"],"stats":{"number_of_genes":46,"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":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian 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":["NPR2L","NPR2"],"biotype":"protein_coding","hgnc_id":"HGNC:24969","gene_name":"NPR2 like, GATOR1 complex subunit","omim_gene":["607072"],"alias_name":null,"gene_symbol":"NPRL2","hgnc_symbol":"NPRL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:50384761-50388522","ensembl_id":"ENSG00000114388"}},"GRch38":{"90":{"location":"3:50347330-50351091","ensembl_id":"ENSG00000114388"}}},"hgnc_date_symbol_changed":"2010-03-30"},"entity_type":"gene","entity_name":"NPRL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29281825","27173016","31625153","33461085"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":["Epilepsy, familial focal, with variable foci 2- MIM#617116"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":20,"hash_id":null,"name":"Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nWhere imaging and clinical features are less specific, consider applying the Malformations of Cortical Development superpanel.","status":"public","version":"0.48","version_created":"2022-10-15T17:24:12.744641+11:00","relevant_disorders":["Focal cortical dysplasia HP:0032046;Hemimegalencephaly HP:0007206"],"stats":{"number_of_genes":12,"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":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian 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":["DHPR","PKU2","SDR33C1"],"biotype":"protein_coding","hgnc_id":"HGNC:9752","gene_name":"quinoid dihydropteridine reductase","omim_gene":["612676"],"alias_name":["6,7-dihydropteridine reductase","short chain dehydrogenase/reductase family 33C, member 1"],"gene_symbol":"QDPR","hgnc_symbol":"QDPR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:17461884-17513857","ensembl_id":"ENSG00000151552"}},"GRch38":{"90":{"location":"4:17460261-17512234","ensembl_id":"ENSG00000151552"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"QDPR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 28413401"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hyperphenylalaninemia, BH4-deficient, C, MIM#261630","Dehydropteridin reductase deficiency, Infantile-onset dystonia","Parkinsonism","Epilepsy","Autonomic dysfunction","Hyperphenylalaninemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":26,"hash_id":null,"name":"Early-onset Parkinson disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"2.51","version_created":"2026-03-30T11:47:22.375379+11:00","relevant_disorders":["Abnormality of extrapyramidal motor function","HP:0002071"],"stats":{"number_of_genes":129,"number_of_strs":14,"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":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BP240","KIAA0728","FLJ21489","FLJ13425","FLJ32235","FLJ30627","CATX-15","BPA","MACF2"],"biotype":"protein_coding","hgnc_id":"HGNC:1090","gene_name":"dystonin","omim_gene":["113810"],"alias_name":null,"gene_symbol":"DST","hgnc_symbol":"DST","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:56322785-56819426","ensembl_id":"ENSG00000151914"}},"GRch38":{"90":{"location":"6:56457987-56954628","ensembl_id":"ENSG00000151914"}}},"hgnc_date_symbol_changed":"2004-07-01"},"entity_type":"gene","entity_name":"DST","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 40497796"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Congenital myopathy 29 with contractures, MIM# 621510","Lethal congenital contracture syndrome 12, MIM# 621511"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6938","gene_name":"carbohydrate sulfotransferase 6","omim_gene":["605294"],"alias_name":null,"gene_symbol":"CHST6","hgnc_symbol":"CHST6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:75510949-75529282","ensembl_id":"ENSG00000183196"}},"GRch38":{"90":{"location":"16:75472052-75495384","ensembl_id":"ENSG00000183196"}}},"hgnc_date_symbol_changed":"1992-02-17"},"entity_type":"gene","entity_name":"CHST6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11818380","16207214","26604660"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Macular corneal dystrophy, MIM# 217800, MONDO:0009020"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":68,"hash_id":null,"name":"Congenital Disorders of Glycosylation","disease_group":"Metabolic 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A7","omim_gene":["300368"],"alias_name":null,"gene_symbol":"SLC9A7","hgnc_symbol":"SLC9A7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:46464753-46618490","ensembl_id":"ENSG00000065923"}},"GRch38":{"90":{"location":"X:46599252-46759172","ensembl_id":"ENSG00000065923"}}},"hgnc_date_symbol_changed":"2001-11-02"},"entity_type":"gene","entity_name":"SLC9A7","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["30335141"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Intellectual developmental disorder, X-linked 108, OMIM #301024"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":68,"hash_id":null,"name":"Congenital Disorders of Glycosylation","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital Disorders of Glycosylation' panel v2.4 with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.85","version_created":"2026-04-02T10:46:27.496905+11:00","relevant_disorders":["Abnormal transferrin saturation","HP:0040135"],"stats":{"number_of_genes":141,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8806","gene_name":"pyruvate dehydrogenase E1 alpha 1 subunit","omim_gene":["300502"],"alias_name":["pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial"],"gene_symbol":"PDHA1","hgnc_symbol":"PDHA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:19362011-19379823","ensembl_id":"ENSG00000131828"}},"GRch38":{"90":{"location":"X:19343893-19361705","ensembl_id":"ENSG00000131828"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"PDHA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33528536","10486093","38693247"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Pyruvate dehydrogenase E1-alpha deficiency MIM#312170"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":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":["minK","ISK","JLNS2","LQT5"],"biotype":"protein_coding","hgnc_id":"HGNC:6240","gene_name":"potassium voltage-gated channel subfamily E regulatory subunit 1","omim_gene":["176261"],"alias_name":null,"gene_symbol":"KCNE1","hgnc_symbol":"KCNE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:35818988-35884573","ensembl_id":"ENSG00000180509"}},"GRch38":{"90":{"location":"21:34446688-34512275","ensembl_id":"ENSG00000180509"}}},"hgnc_date_symbol_changed":"1991-08-13"},"entity_type":"gene","entity_name":"KCNE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Jervell and Lange-Nielsen syndrome 2, MIM# 612347","Long QT syndrome 5, MIM# 613695"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["cardiac"],"panel":{"id":126,"hash_id":null,"name":"Incidentalome","disease_group":"","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ33903","PPP1R147"],"biotype":"protein_coding","hgnc_id":"HGNC:20249","gene_name":"sprouty related EVH1 domain containing 1","omim_gene":["609291"],"alias_name":["protein phosphatase 1, regulatory subunit 147"],"gene_symbol":"SPRED1","hgnc_symbol":"SPRED1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:38544527-38649450","ensembl_id":"ENSG00000166068"}},"GRch38":{"90":{"location":"15:38252326-38357249","ensembl_id":"ENSG00000166068"}}},"hgnc_date_symbol_changed":"2003-01-24"},"entity_type":"gene","entity_name":"SPRED1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17704776","19366998","21548021"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Legius syndrome, MIM# 611431"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; 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":["LBN"],"biotype":"protein_coding","hgnc_id":"HGNC:19747","gene_name":"EvC ciliary complex subunit 2","omim_gene":["607261"],"alias_name":["limbin"],"gene_symbol":"EVC2","hgnc_symbol":"EVC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:5544499-5711275","ensembl_id":"ENSG00000173040"}},"GRch38":{"90":{"location":"4:5542772-5709548","ensembl_id":"ENSG00000173040"}}},"hgnc_date_symbol_changed":"2003-04-11"},"entity_type":"gene","entity_name":"EVC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16404586","19810119"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ellis-van Creveld syndrome, MIM# 225500","Weyers acrofacial dysostosis, MIM# 193530"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":136,"hash_id":null,"name":"Mandibulofacial Acrofacial dysostosis","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 contains genes associated with the facial dysostoses, which can be subdivided into mandibulofacial dysostoses, which present with craniofacial defects only, and acrofacial dysostoses, which encompass both craniofacial and limb anomalies. Facial dysostoses arise as a consequence of abnormal development of the first and second pharyngeal arches and their derivatives, including the upper and lower jaw and their hyoid support structures.","status":"public","version":"1.22","version_created":"2026-03-25T17:21:58.910310+11:00","relevant_disorders":["Craniofacial dysostosis","HP:0004439"],"stats":{"number_of_genes":35,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC2655","fSAP35"],"biotype":"protein_coding","hgnc_id":"HGNC:28369","gene_name":"THO complex 6","omim_gene":["615403"],"alias_name":["functional spliceosome-associated protein 35"],"gene_symbol":"THOC6","hgnc_symbol":"THOC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:3074028-3077756","ensembl_id":"ENSG00000131652"}},"GRch38":{"90":{"location":"16:3024027-3027755","ensembl_id":"ENSG00000131652"}}},"hgnc_date_symbol_changed":"2006-03-02"},"entity_type":"gene","entity_name":"THOC6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23621916","26739162","27102954","30238602","30476144"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Beaulieu-Boycott-Innes syndrome, MIM# 613680"],"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":"1.4739","version_created":"2026-04-12T14:08:16.491946+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":["TPO","MPLLG"],"biotype":"protein_coding","hgnc_id":"HGNC:11795","gene_name":"thrombopoietin","omim_gene":["600044"],"alias_name":["prepro-thrombopoietin","megakaryocyte stimulating factor","myeloproliferative leukemia virus oncogene ligand","megakaryocyte growth and development factor","MPL ligand","megakaryocyte colony-stimulating factor","c-mpl ligand","thrombopoietin nirs variant 1"],"gene_symbol":"THPO","hgnc_symbol":"THPO","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:184089723-184095932","ensembl_id":"ENSG00000090534"}},"GRch38":{"90":{"location":"3:184371935-184378144","ensembl_id":"ENSG00000090534"}}},"hgnc_date_symbol_changed":"1994-11-04"},"entity_type":"gene","entity_name":"THPO","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9425899","10583217","32150607","28466964"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Thrombocythemia 1, MIM# 187950","Thrombocytopenia 9, MIM# 620478"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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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":[]},{"gene_data":{"alias":["RGPR","PGPR-p117","Sec16S"],"biotype":"protein_coding","hgnc_id":"HGNC:30301","gene_name":"SEC16 homolog B, endoplasmic reticulum export factor","omim_gene":["612855"],"alias_name":["regucalcin gene promotor region related 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VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause macrocystic kidney disease. Many of the disorders also have a polycystic liver disease, either as the predominant phenotype or in association with primary kidney cysts.","status":"public","version":"1.0","version_created":"2026-03-24T16:17:17.075108+11:00","relevant_disorders":["Renal cyst","HP:0000107"],"stats":{"number_of_genes":31,"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"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SEC34"],"biotype":"protein_coding","hgnc_id":"HGNC:18619","gene_name":"component of oligomeric golgi complex 3","omim_gene":["606975"],"alias_name":null,"gene_symbol":"COG3","hgnc_symbol":"COG3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:46039060-46110765","ensembl_id":"ENSG00000136152"}},"GRch38":{"90":{"location":"13:45464898-45536630","ensembl_id":"ENSG00000136152"}}},"hgnc_date_symbol_changed":"2002-05-09"},"entity_type":"gene","entity_name":"COG3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37711075"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Congenital disorder of glycosylation, type IIbb, MIM# 620546"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1956","gene_name":"cholinergic receptor nicotinic alpha 2 subunit","omim_gene":["118502"],"alias_name":["acetylcholine receptor, nicotinic, alpha 2 (neuronal)"],"gene_symbol":"CHRNA2","hgnc_symbol":"CHRNA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:27317279-27337400","ensembl_id":"ENSG00000120903"}},"GRch38":{"90":{"location":"8:27459761-27479883","ensembl_id":"ENSG00000120903"}}},"hgnc_date_symbol_changed":"1990-05-11"},"entity_type":"gene","entity_name":"CHRNA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16826524","25770198","30809122","25847220"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Epilepsy, nocturnal frontal lobe, type 4 MIM#610353"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","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":["FBL4","FBL5"],"biotype":"protein_coding","hgnc_id":"HGNC:13601","gene_name":"F-box and leucine rich repeat protein 4","omim_gene":["605654"],"alias_name":null,"gene_symbol":"FBXL4","hgnc_symbol":"FBXL4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:99316420-99395849","ensembl_id":"ENSG00000112234"}},"GRch38":{"90":{"location":"6:98868538-98948006","ensembl_id":"ENSG00000112234"}}},"hgnc_date_symbol_changed":"2000-09-27"},"entity_type":"gene","entity_name":"FBXL4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28940506"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["IRP2"],"biotype":"protein_coding","hgnc_id":"HGNC:6115","gene_name":"iron responsive element binding protein 2","omim_gene":["147582"],"alias_name":null,"gene_symbol":"IREB2","hgnc_symbol":"IREB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:78729773-78793798","ensembl_id":"ENSG00000136381"}},"GRch38":{"90":{"location":"15:78437431-78501456","ensembl_id":"ENSG00000136381"}}},"hgnc_date_symbol_changed":"1991-02-20"},"entity_type":"gene","entity_name":"IREB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30915432","31243445","11175792","35602653"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DDP","MTS"],"biotype":"protein_coding","hgnc_id":"HGNC:11817","gene_name":"translocase of inner mitochondrial membrane 8A","omim_gene":["300356"],"alias_name":null,"gene_symbol":"TIMM8A","hgnc_symbol":"TIMM8A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:100600649-100604184","ensembl_id":"ENSG00000126953"}},"GRch38":{"90":{"location":"X:101345661-101349196","ensembl_id":"ENSG00000126953"}}},"hgnc_date_symbol_changed":"1999-12-01"},"entity_type":"gene","entity_name":"TIMM8A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11803487","11405816","32820032"],"evidence":["Expert Review Green","Literature","Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Mohr-Tranebjaerg syndrome, MIM# 304700"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4982","gene_name":"hydroxymethylbilane synthase","omim_gene":["609806"],"alias_name":null,"gene_symbol":"HMBS","hgnc_symbol":"HMBS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118955576-118964259","ensembl_id":"ENSG00000256269"}},"GRch38":{"90":{"location":"11:119084866-119093549","ensembl_id":"ENSG00000256269"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"HMBS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Porphyria, acute intermittent, MIM#176000"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MYH"],"biotype":"protein_coding","hgnc_id":"HGNC:7527","gene_name":"mutY DNA glycosylase","omim_gene":["604933"],"alias_name":null,"gene_symbol":"MUTYH","hgnc_symbol":"MUTYH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45794835-45806142","ensembl_id":"ENSG00000132781"}},"GRch38":{"90":{"location":"1:45329163-45340470","ensembl_id":"ENSG00000132781"}}},"hgnc_date_symbol_changed":"1997-10-24"},"entity_type":"gene","entity_name":"MUTYH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance"],"phenotypes":["Adenomas, multiple colorectal, MIM# 608456"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CIN85"],"biotype":"protein_coding","hgnc_id":"HGNC:13867","gene_name":"SH3 domain containing kinase binding protein 1","omim_gene":["300374"],"alias_name":null,"gene_symbol":"SH3KBP1","hgnc_symbol":"SH3KBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:19552093-19905719","ensembl_id":"ENSG00000147010"}},"GRch38":{"90":{"location":"X:19533975-19887601","ensembl_id":"ENSG00000147010"}}},"hgnc_date_symbol_changed":"2000-12-14"},"entity_type":"gene","entity_name":"SH3KBP1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["29636373","21708930"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Immunodeficiency 61, MIM#\t300310"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["SV/CNV"],"panel":{"id":222,"hash_id":null,"name":"Predominantly Antibody Deficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause predominantly antibody deficiency, including:\r\n- Agammaglobulinemia\r\n- Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia \r\n- CVID Phenotype\r\n- Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype\r\n- Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM\r\n- Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.4","version_created":"2025-09-11T18:11:50.640122+10:00","relevant_disorders":["Decreased immunoglobulin level","HP:0041078"],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["LAT1"],"biotype":"protein_coding","hgnc_id":"HGNC:18874","gene_name":"linker for activation of T-cells","omim_gene":["602354"],"alias_name":["linker for activation of T cells, transmembrane adaptor"],"gene_symbol":"LAT","hgnc_symbol":"LAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:28996147-29002104","ensembl_id":"ENSG00000213658"}},"GRch38":{"90":{"location":"16:28984826-28990783","ensembl_id":"ENSG00000213658"}}},"hgnc_date_symbol_changed":"2002-07-12"},"entity_type":"gene","entity_name":"LAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27522155","27242165","10204488"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency 52, MIM#\t617514"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":235,"hash_id":null,"name":"Severe Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with severe combined immunodeficiency (SCID), including the following:\r\n- SCID with absent T present B cells\r\n- SCID with absent T absent B cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.30","version_created":"2026-03-02T10:27:29.970169+11:00","relevant_disorders":["Severe combined immunodeficiency","HP:0004430"],"stats":{"number_of_genes":28,"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":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6598","gene_name":"DNA ligase 1","omim_gene":["126391"],"alias_name":null,"gene_symbol":"LIG1","hgnc_symbol":"LIG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:48618702-48673860","ensembl_id":"ENSG00000105486"}},"GRch38":{"90":{"location":"19:48115445-48170603","ensembl_id":"ENSG00000105486"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"LIG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 33025376","PMID: 36341401"],"evidence":["Literature","Expert Review Green","Expert Review Green","Literature"],"phenotypes":["Immunodeficiency 96, MIM# 619774"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":235,"hash_id":null,"name":"Severe Combined Immunodeficiency","disease_group":"Immunological 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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":["CD152","CD","GSE"],"biotype":"protein_coding","hgnc_id":"HGNC:2505","gene_name":"cytotoxic T-lymphocyte associated protein 4","omim_gene":["123890"],"alias_name":null,"gene_symbol":"CTLA4","hgnc_symbol":"CTLA4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:204732509-204738683","ensembl_id":"ENSG00000163599"}},"GRch38":{"90":{"location":"2:203867786-203873960","ensembl_id":"ENSG00000163599"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"CTLA4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39060684","38302222"],"evidence":["Expert 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Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne 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phenotype"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:719","gene_name":"arylsulfatase E (chondrodysplasia punctata 1)","omim_gene":["300180"],"alias_name":null,"gene_symbol":"ARSE","hgnc_symbol":"ARSE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:2852699-2886286","ensembl_id":"ENSG00000157399"}},"GRch38":{"90":{"location":"X:2934632-2968310","ensembl_id":"ENSG00000157399"}}},"hgnc_date_symbol_changed":"1995-04-26"},"entity_type":"gene","entity_name":"ARSE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review Green","Radboud University Medical Center, Nijmegen","NHS GMS","UKGTN","Victorian Clinical Genetics Services"],"phenotypes":["CHONDRODYSPLASIA PUNCTATA 1, X-LINKED","X-linked recessive chondrodysplasia punctata","Chondrodysplasia punctata, X-linked recessive, 302950","CDPXL"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CL640","FLJ26072"],"biotype":"protein_coding","hgnc_id":"HGNC:25223","gene_name":"coenzyme Q2, polyprenyltransferase","omim_gene":["609825"],"alias_name":["4-hydroxybenzoate polyprenyltransferase"],"gene_symbol":"COQ2","hgnc_symbol":"COQ2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:84182689-84206067","ensembl_id":"ENSG00000173085"}},"GRch38":{"90":{"location":"4:83261536-83284914","ensembl_id":"ENSG00000173085"}}},"hgnc_date_symbol_changed":"2005-07-05"},"entity_type":"gene","entity_name":"COQ2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Mitochondrial Leukoencephalopathy","General Leukodystrophy & Mitochondrial Leukoencephalopathy","Coenzyme Q10 deficiency, primary, 1"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNF45","gp78"],"biotype":"protein_coding","hgnc_id":"HGNC:463","gene_name":"autocrine motility factor receptor","omim_gene":["603243"],"alias_name":null,"gene_symbol":"AMFR","hgnc_symbol":"AMFR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:56395364-56459450","ensembl_id":"ENSG00000159461"}},"GRch38":{"90":{"location":"16:56361452-56425538","ensembl_id":"ENSG00000159461"}}},"hgnc_date_symbol_changed":"1994-01-10"},"entity_type":"gene","entity_name":"AMFR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37119330"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spastic paraplegia 89, autosomal recessive, MIM# 620379"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ARMS"],"biotype":"protein_coding","hgnc_id":"HGNC:29508","gene_name":"kinase D interacting substrate 220","omim_gene":["615759"],"alias_name":["ankyrin repeat-rich membrane-spanning protein"],"gene_symbol":"KIDINS220","hgnc_symbol":"KIDINS220","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:8865408-8977760","ensembl_id":"ENSG00000134313"}},"GRch38":{"90":{"location":"2:8721081-8837630","ensembl_id":"ENSG00000134313"}}},"hgnc_date_symbol_changed":"2008-11-25"},"entity_type":"gene","entity_name":"KIDINS220","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27005418","29667355"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296","MONDO:0015007"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CMTX5","DFNX1"],"biotype":"protein_coding","hgnc_id":"HGNC:9462","gene_name":"phosphoribosyl pyrophosphate synthetase 1","omim_gene":["311850"],"alias_name":["PRS I","ribose-phosphate diphosphokinase 1"],"gene_symbol":"PRPS1","hgnc_symbol":"PRPS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:106871737-106894256","ensembl_id":"ENSG00000147224"}},"GRch38":{"90":{"location":"X:107628424-107651026","ensembl_id":"ENSG00000147224"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PRPS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17701900","24285972","25491489","25182139"],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green"],"phenotypes":["Charcot Marie Tooth disease, X linked recessive, 5, 311070","HMSN"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:15832","gene_name":"BSCL2, seipin lipid droplet biogenesis associated","omim_gene":["606158"],"alias_name":null,"gene_symbol":"BSCL2","hgnc_symbol":"BSCL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:62457747-62477317","ensembl_id":"ENSG00000168000"}},"GRch38":{"90":{"location":"11:62690275-62709845","ensembl_id":"ENSG00000168000"}}},"hgnc_date_symbol_changed":"2001-07-02"},"entity_type":"gene","entity_name":"BSCL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11479539","26239609"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["congenital generalized lipodystrophy type 2 MONDO:0010020","diabetes mellitus MONDO:0005015"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3093,"hash_id":null,"name":"Monogenic Diabetes","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).","status":"public","version":"0.224","version_created":"2026-04-06T18:03:06.439122+10:00","relevant_disorders":["Diabetes mellitus","HP:0000819"],"stats":{"number_of_genes":109,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["76P","FLJ14797"],"biotype":"protein_coding","hgnc_id":"HGNC:16691","gene_name":"tubulin gamma complex associated protein 4","omim_gene":["609610"],"alias_name":null,"gene_symbol":"TUBGCP4","hgnc_symbol":"TUBGCP4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:43661419-43699293","ensembl_id":"ENSG00000137822"}},"GRch38":{"90":{"location":"15:43369221-43409771","ensembl_id":"ENSG00000137822"}}},"hgnc_date_symbol_changed":"2007-08-20"},"entity_type":"gene","entity_name":"TUBGCP4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25817018","32270730"],"evidence":["Expert Review Green","RetNet"],"phenotypes":["Microcephaly and chorioretinopathy, autosomal recessive, 3, MIM# 616335"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.256","version_created":"2026-03-31T19:05:29.271183+11:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":138,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LCA12"],"biotype":"protein_coding","hgnc_id":"HGNC:19689","gene_name":"retinal degeneration 3","omim_gene":["180040"],"alias_name":null,"gene_symbol":"RD3","hgnc_symbol":"RD3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:211649864-211666259","ensembl_id":"ENSG00000198570"}},"GRch38":{"90":{"location":"1:211476522-211492917","ensembl_id":"ENSG00000198570"}}},"hgnc_date_symbol_changed":"2006-11-13"},"entity_type":"gene","entity_name":"RD3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leber congenital amaurosis 12, 610612 (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":["MWFE","CI-MWFE"],"biotype":"protein_coding","hgnc_id":"HGNC:7683","gene_name":"NADH:ubiquinone oxidoreductase subunit A1","omim_gene":["300078"],"alias_name":["NADH:ubiquinone oxidoreductase (complex 1)","type I dehydrogenase","NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)","complex I MWFE subunit"],"gene_symbol":"NDUFA1","hgnc_symbol":"NDUFA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:119005450-119010625","ensembl_id":"ENSG00000125356"}},"GRch38":{"90":{"location":"X:119871487-119876662","ensembl_id":"ENSG00000125356"}}},"hgnc_date_symbol_changed":"1996-08-16"},"entity_type":"gene","entity_name":"NDUFA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mitochondrial complex I deficiency, 252010 (3)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["IMAGE:4942737","DKFZp547D065","DMP4","G-CK"],"biotype":"protein_coding","hgnc_id":"HGNC:22140","gene_name":"FAM20C, golgi associated secretory pathway kinase","omim_gene":["611061"],"alias_name":["dentin matrix protein 4","golgi casein kinase"],"gene_symbol":"FAM20C","hgnc_symbol":"FAM20C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:192969-300711","ensembl_id":"ENSG00000177706"}},"GRch38":{"90":{"location":"7:192969-260745","ensembl_id":"ENSG00000177706"}}},"hgnc_date_symbol_changed":"2003-09-03"},"entity_type":"gene","entity_name":"FAM20C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Raine syndrome, 259775 (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":["ATK","XLA","PSCTK1"],"biotype":"protein_coding","hgnc_id":"HGNC:1133","gene_name":"Bruton tyrosine kinase","omim_gene":["300300"],"alias_name":["Bruton's tyrosine kinase"],"gene_symbol":"BTK","hgnc_symbol":"BTK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:100604435-100641183","ensembl_id":"ENSG00000010671"}},"GRch38":{"90":{"location":"X:101349447-101390796","ensembl_id":"ENSG00000010671"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"BTK","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","NHS GMS"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FXI"],"biotype":"protein_coding","hgnc_id":"HGNC:3529","gene_name":"coagulation factor XI","omim_gene":["264900"],"alias_name":["plasma thromboplastin antecedent"],"gene_symbol":"F11","hgnc_symbol":"F11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:187187099-187210835","ensembl_id":"ENSG00000088926"}},"GRch38":{"90":{"location":"4:186265945-186288806","ensembl_id":"ENSG00000088926"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"F11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Factor XI 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":["HK4"],"biotype":"protein_coding","hgnc_id":"HGNC:4195","gene_name":"glucokinase","omim_gene":["138079"],"alias_name":["hexokinase 4"],"gene_symbol":"GCK","hgnc_symbol":"GCK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:44183872-44237769","ensembl_id":"ENSG00000106633"}},"GRch38":{"90":{"location":"7:44144271-44198170","ensembl_id":"ENSG00000106633"}}},"hgnc_date_symbol_changed":"1991-06-05"},"entity_type":"gene","entity_name":"GCK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Hyperinsulinemic hypoglycemia, familial"],"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":["ERAB","MHBD","17b-HSD10","ABAD","SDR5C1","MRPP2","CAMR"],"biotype":"protein_coding","hgnc_id":"HGNC:4800","gene_name":"hydroxysteroid 17-beta dehydrogenase 10","omim_gene":["300256"],"alias_name":["type 10 17b-HSD","type 10 17beta-hydroxysteroid dehydrogenase","AB-binding alcohol dehydrogenase","short chain dehydrogenase/reductase family 5C, member 1","mitochondrial RNase P subunit 2"],"gene_symbol":"HSD17B10","hgnc_symbol":"HSD17B10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:53458206-53461320","ensembl_id":"ENSG00000072506"}},"GRch38":{"90":{"location":"X:53431258-53434373","ensembl_id":"ENSG00000072506"}}},"hgnc_date_symbol_changed":"2006-11-22"},"entity_type":"gene","entity_name":"HSD17B10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["17-beta-hydroxysteroid dehydrogenase X deficiency"],"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":["D18S892E","DTN","DTN-1","DTN-2","DTN-3","DRP3"],"biotype":"protein_coding","hgnc_id":"HGNC:3057","gene_name":"dystrobrevin alpha","omim_gene":["601239"],"alias_name":["dystrophin-related protein 3"],"gene_symbol":"DTNA","hgnc_symbol":"DTNA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:32073254-32471808","ensembl_id":"ENSG00000134769"}},"GRch38":{"90":{"location":"18:34493290-34891844","ensembl_id":"ENSG00000134769"}}},"hgnc_date_symbol_changed":"1998-02-11"},"entity_type":"gene","entity_name":"DTNA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Left ventricular noncompaction 1"],"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":["KIAA0436"],"biotype":"protein_coding","hgnc_id":"HGNC:30228","gene_name":"prolyl endopeptidase-like","omim_gene":["609557"],"alias_name":null,"gene_symbol":"PREPL","hgnc_symbol":"PREPL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:44543420-44589001","ensembl_id":"ENSG00000138078"}},"GRch38":{"90":{"location":"2:44316281-44361862","ensembl_id":"ENSG00000138078"}}},"hgnc_date_symbol_changed":"2005-02-25"},"entity_type":"gene","entity_name":"PREPL","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Hypotonia - cystinuria syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12298","gene_name":"thyrotropin releasing hormone","omim_gene":["613879"],"alias_name":["prothyroliberin"],"gene_symbol":"TRH","hgnc_symbol":"TRH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:129693148-129696781","ensembl_id":"ENSG00000170893"}},"GRch38":{"90":{"location":"3:129974305-129977938","ensembl_id":"ENSG00000170893"}}},"hgnc_date_symbol_changed":"1991-06-04"},"entity_type":"gene","entity_name":"TRH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Thyrotropin-releasing hormone 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":[],"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":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["27543917","28376267"],"evidence":["Expert Review Amber","Expert list","Literature"],"phenotypes":["Wilson disease, MIM# 277900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3438,"hash_id":null,"name":"Neurodegeneration with brain iron accumulation","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that are associated with neurodegeneration with brain iron accumulation (NBIA) disorders. Depending on the clinical features present, consider applying additional panels such as the Dystonia Superpanel or Mitochondrial Disorders, which contain overlapping differential diagnoses.","status":"public","version":"1.3","version_created":"2025-11-25T11:21:32.539811+11:00","relevant_disorders":["Iron accumulation in brain","HP:0012675"],"stats":{"number_of_genes":24,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["dJ543J19.4"],"biotype":"protein_coding","hgnc_id":"HGNC:16257","gene_name":"tubulin beta 1 class VI","omim_gene":["612901"],"alias_name":["class VI beta-tubulin"],"gene_symbol":"TUBB1","hgnc_symbol":"TUBB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:57594309-57601709","ensembl_id":"ENSG00000101162"}},"GRch38":{"90":{"location":"20:59019254-59026654","ensembl_id":"ENSG00000101162"}}},"hgnc_date_symbol_changed":"2001-07-17"},"entity_type":"gene","entity_name":"TUBB1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["30446499","31642429","40071799"],"evidence":["Expert Review Amber","Genomics England PanelApp"],"phenotypes":["Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112","Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3471,"hash_id":null,"name":"Congenital hypothyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Thyroid disorders","description":"This panel contains genes associated with congenital hypothyroidism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'congenital hypothyroidism' panel V3.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.120","version_created":"2026-04-02T11:51:29.895216+11:00","relevant_disorders":["Hypothyroidism HP:0000821"],"stats":{"number_of_genes":63,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC27034","TRM10"],"biotype":"protein_coding","hgnc_id":"HGNC:28403","gene_name":"tRNA methyltransferase 10A","omim_gene":["616013"],"alias_name":null,"gene_symbol":"TRMT10A","hgnc_symbol":"TRMT10A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:100467866-100485189","ensembl_id":"ENSG00000145331"}},"GRch38":{"90":{"location":"4:99546709-99564032","ensembl_id":"ENSG00000145331"}}},"hgnc_date_symbol_changed":"2012-06-28"},"entity_type":"gene","entity_name":"TRMT10A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24204302","25053765","33448213","33067246","26535115","26526202","26297882"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033","MONDO:0000208"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:53647","gene_name":"leishmanolysin like peptidase 2","omim_gene":null,"alias_name":null,"gene_symbol":"AL117258.1","hgnc_symbol":"LMLN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch38":{"90":{"location":"14:23099065-23104992","ensembl_id":"ENSG00000283654"}}},"hgnc_date_symbol_changed":"2017-08-11"},"entity_type":"gene","entity_name":"AL117258.1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34903892"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Heterotaxy","congenital heart defects"],"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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6144","gene_name":"integrin subunit alpha 8","omim_gene":["604063"],"alias_name":null,"gene_symbol":"ITGA8","hgnc_symbol":"ITGA8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:15555948-15762124","ensembl_id":"ENSG00000077943"}},"GRch38":{"90":{"location":"10:15513949-15720125","ensembl_id":"ENSG00000077943"}}},"hgnc_date_symbol_changed":"1998-10-01"},"entity_type":"gene","entity_name":"ITGA8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24439109","9054500"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Renal hypodysplasia/aplasia 1, OMIM:191830","Renal hypodysplasia/aplasia 1, MONDO:0024519"],"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":["FRP1","SCKL","SCKL1","MEC1"],"biotype":"protein_coding","hgnc_id":"HGNC:882","gene_name":"ATR serine/threonine kinase","omim_gene":["601215"],"alias_name":["MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"],"gene_symbol":"ATR","hgnc_symbol":"ATR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:142168077-142297668","ensembl_id":"ENSG00000175054"}},"GRch38":{"90":{"location":"3:142449235-142578826","ensembl_id":"ENSG00000175054"}}},"hgnc_date_symbol_changed":"1998-04-06"},"entity_type":"gene","entity_name":"ATR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12640452","19620979","30199583","23111928"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Seckel syndrome 1, MONDO:0008869","Seckel syndrome 1, OMIM:210600"],"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":["FHH","NSHPT","GPRC2A"],"biotype":"protein_coding","hgnc_id":"HGNC:1514","gene_name":"calcium sensing receptor","omim_gene":["601199"],"alias_name":["severe neonatal hyperparathyroidism"],"gene_symbol":"CASR","hgnc_symbol":"CASR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:121902530-122005342","ensembl_id":"ENSG00000036828"}},"GRch38":{"90":{"location":"3:122183683-122291629","ensembl_id":"ENSG00000036828"}}},"hgnc_date_symbol_changed":"1992-12-04"},"entity_type":"gene","entity_name":"CASR","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Hyperparathyroidism, neonatal, MIM# 239200"],"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":["BMP-9","BMP9"],"biotype":"protein_coding","hgnc_id":"HGNC:4217","gene_name":"growth differentiation factor 2","omim_gene":["605120"],"alias_name":["''"],"gene_symbol":"GDF2","hgnc_symbol":"GDF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:48413092-48416853","ensembl_id":"ENSG00000128802"}},"GRch38":{"90":{"location":"10:47322490-47326270","ensembl_id":"ENSG00000263761"}}},"hgnc_date_symbol_changed":"1997-09-12"},"entity_type":"gene","entity_name":"GDF2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["32618121"],"evidence":["Expert Review Red","Genomics England PanelApp","Literature"],"phenotypes":["hydrops","hydrothorax","Lymphatic dysplasia"],"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":["FAD","FA-D2"],"biotype":"protein_coding","hgnc_id":"HGNC:3585","gene_name":"Fanconi anemia complementation group D2","omim_gene":["613984"],"alias_name":null,"gene_symbol":"FANCD2","hgnc_symbol":"FANCD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:10068098-10143614","ensembl_id":"ENSG00000144554"}},"GRch38":{"90":{"location":"3:10026414-10101930","ensembl_id":"ENSG00000144554"}}},"hgnc_date_symbol_changed":"2001-10-05"},"entity_type":"gene","entity_name":"FANCD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301575","17436244"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert Review","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anaemia, complementation group D2, MIM# 227646"],"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":["PI3K-C2alpha"],"biotype":"protein_coding","hgnc_id":"HGNC:8971","gene_name":"phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha","omim_gene":["603601"],"alias_name":null,"gene_symbol":"PIK3C2A","hgnc_symbol":"PIK3C2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:17099277-17229530","ensembl_id":"ENSG00000011405"}},"GRch38":{"90":{"location":"11:17077730-17207983","ensembl_id":"ENSG00000011405"}}},"hgnc_date_symbol_changed":"1998-05-21"},"entity_type":"gene","entity_name":"PIK3C2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31034465"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Oculocerebrodental syndrome, MONDO:0034145","Oculoskeletodental syndrome, OMIM:618440"],"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":["NEB177D"],"biotype":"protein_coding","hgnc_id":"HGNC:7720","gene_name":"nebulin","omim_gene":["161650"],"alias_name":["nemaline myopathy type 2"],"gene_symbol":"NEB","hgnc_symbol":"NEB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:152341850-152591001","ensembl_id":"ENSG00000183091"}},"GRch38":{"90":{"location":"2:151485336-151734487","ensembl_id":"ENSG00000183091"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NEB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10051637","22367672","26578207","33376055"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Arthrogryposis multiplex congenita 6, MIM# 619334"],"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":["KIAA1605","AD035","DKFZp762K054"],"biotype":"protein_coding","hgnc_id":"HGNC:18986","gene_name":"glucosylceramidase beta 2","omim_gene":["609471"],"alias_name":["bile acid beta-glucosidase","non-lysosomal glucosylceramidase"],"gene_symbol":"GBA2","hgnc_symbol":"GBA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:35736863-35749983","ensembl_id":"ENSG00000070610"}},"GRch38":{"90":{"location":"9:35736866-35749228","ensembl_id":"ENSG00000070610"}}},"hgnc_date_symbol_changed":"2002-07-25"},"entity_type":"gene","entity_name":"GBA2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Spastic paraplegia 46, autosomal recessive, MIM#614409"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. 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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":["GPVI"],"biotype":"protein_coding","hgnc_id":"HGNC:14388","gene_name":"glycoprotein VI platelet","omim_gene":["605546"],"alias_name":["platelet glycoprotein VI"],"gene_symbol":"GP6","hgnc_symbol":"GP6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:55525073-55549632","ensembl_id":"ENSG00000088053"}},"GRch38":{"90":{"location":"19:55013705-55038264","ensembl_id":"ENSG00000088053"}}},"hgnc_date_symbol_changed":"2001-01-19"},"entity_type":"gene","entity_name":"GP6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19549989","23815599","19552682"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bleeding disorder, platelet-type, 11, MIM# 614201","MONDO:0013623"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7882","gene_name":"notch 2","omim_gene":["600275"],"alias_name":null,"gene_symbol":"NOTCH2","hgnc_symbol":"NOTCH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:120454176-120612240","ensembl_id":"ENSG00000134250"}},"GRch38":{"90":{"location":"1:119911553-120069626","ensembl_id":"ENSG00000134250"}}},"hgnc_date_symbol_changed":"1994-11-10"},"entity_type":"gene","entity_name":"NOTCH2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21378989","21378985","16773578"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hajdu-Cheney syndrome (MIM#102500)"],"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:2323","gene_name":"carbamoyl-phosphate synthase 1","omim_gene":["608307"],"alias_name":["carbamoyl-phosphate synthase (ammonia)"],"gene_symbol":"CPS1","hgnc_symbol":"CPS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:211342406-211543831","ensembl_id":"ENSG00000021826"}},"GRch38":{"90":{"location":"2:210477682-210679107","ensembl_id":"ENSG00000021826"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CPS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8486760","17310273","21120950","9862865","29801986","27834067","27150549","22173106"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Carbamoylphosphate synthetase I deficiency MIM#237300"],"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":["SPG63"],"biotype":"protein_coding","hgnc_id":"HGNC:469","gene_name":"adenosine monophosphate deaminase 2","omim_gene":["102771"],"alias_name":["AMPD isoform L"],"gene_symbol":"AMPD2","hgnc_symbol":"AMPD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:110158726-110174673","ensembl_id":"ENSG00000116337"}},"GRch38":{"90":{"location":"1:109616104-109632051","ensembl_id":"ENSG00000116337"}}},"hgnc_date_symbol_changed":"1990-03-06"},"entity_type":"gene","entity_name":"AMPD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23911318"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Pontocerebellar hypoplasia, type 9, MIM#615809"],"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":["cblB","CFAP23"],"biotype":"protein_coding","hgnc_id":"HGNC:19331","gene_name":"methylmalonic aciduria (cobalamin deficiency) cblB type","omim_gene":["607568"],"alias_name":["ATP:cob(I)alamin adenosyltransferase","cilia and flagella associated protein 23"],"gene_symbol":"MMAB","hgnc_symbol":"MMAB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:109991542-110011679","ensembl_id":"ENSG00000139428"}},"GRch38":{"90":{"location":"12:109553737-109573874","ensembl_id":"ENSG00000139428"}}},"hgnc_date_symbol_changed":"2003-02-11"},"entity_type":"gene","entity_name":"MMAB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12471062","24813872","16410054"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Methylmalonic aciduria, vitamin B12-responsive, cblB type MIM#251110"],"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":["GA2","EMA","MADD"],"biotype":"protein_coding","hgnc_id":"HGNC:3481","gene_name":"electron transfer flavoprotein alpha subunit","omim_gene":["608053"],"alias_name":["glutaric aciduria II"],"gene_symbol":"ETFA","hgnc_symbol":"ETFA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:76507696-76603813","ensembl_id":"ENSG00000140374"}},"GRch38":{"90":{"location":"15:76215355-76311472","ensembl_id":"ENSG00000140374"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ETFA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["1430199, 1882842, 21347544"],"evidence":["Expert Review Green"],"phenotypes":["multiple acyl-CoA dehydrogenase deficiency MONDO:0009282","Disorders of mitochondrial fatty acid oxidation"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4257,"hash_id":null,"name":"Vitamin metabolism disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"The gene panel contains genes that cause inborn errors of vitamin metabolism.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.7","version_created":"2024-09-18T09:35:00.495806+10:00","relevant_disorders":["Abnormality of vitamin metabolism","HP:0100508"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:28971","gene_name":"scaffolding protein involved in DNA repair","omim_gene":["615384"],"alias_name":null,"gene_symbol":"SPIDR","hgnc_symbol":"SPIDR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:48173167-48648868","ensembl_id":"ENSG00000164808"}},"GRch38":{"90":{"location":"8:47260575-47736306","ensembl_id":"ENSG00000164808"}}},"hgnc_date_symbol_changed":"2013-07-02"},"entity_type":"gene","entity_name":"SPIDR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34794894","34697795","27967308","41393291"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Ovarian dysgenesis 9, MIM# 619665"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2699","gene_name":"DEAD-box helicase 3, Y-linked","omim_gene":["400010"],"alias_name":null,"gene_symbol":"DDX3Y","hgnc_symbol":"DDX3Y","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"Y:15016019-15032390","ensembl_id":"ENSG00000067048"}},"GRch38":{"90":{"location":"Y:12904108-12920478","ensembl_id":"ENSG00000067048"}}},"hgnc_date_symbol_changed":"2003-06-20"},"entity_type":"gene","entity_name":"DDX3Y","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36997603"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Azoospermia, MONDO:0100459, DDX3Y-related"],"mode_of_inheritance":"Other","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null}]}