{"count":36056,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=199","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=197","results":[{"gene_data":{"alias":["PTS2R","RD"],"biotype":"protein_coding","hgnc_id":"HGNC:8860","gene_name":"peroxisomal biogenesis factor 7","omim_gene":["601757"],"alias_name":["Refsum disease"],"gene_symbol":"PEX7","hgnc_symbol":"PEX7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:137143717-137235075","ensembl_id":"ENSG00000112357"}},"GRch38":{"90":{"location":"6:136822564-136913937","ensembl_id":"ENSG00000112357"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PEX7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Melbourne Genomics Health Alliance Perinatal Autopsy Flagship"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":28,"hash_id":null,"name":"Skeletal Dysplasia_Fetal","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.","status":"public","version":"0.246","version_created":"2026-03-02T10:22:48.751874+11:00","relevant_disorders":[],"stats":{"number_of_genes":157,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["UGTREL7","KIAA0260"],"biotype":"protein_coding","hgnc_id":"HGNC:20800","gene_name":"solute carrier family 35 member D1","omim_gene":["610804"],"alias_name":null,"gene_symbol":"SLC35D1","hgnc_symbol":"SLC35D1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:67465015-67519782","ensembl_id":"ENSG00000116704"}},"GRch38":{"90":{"location":"1:66999332-67054099","ensembl_id":"ENSG00000116704"}}},"hgnc_date_symbol_changed":"2003-04-09"},"entity_type":"gene","entity_name":"SLC35D1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services","Expert Review Green","Melbourne Genomics Health Alliance Perinatal Autopsy Flagship"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":28,"hash_id":null,"name":"Skeletal Dysplasia_Fetal","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.","status":"public","version":"0.246","version_created":"2026-03-02T10:22:48.751874+11:00","relevant_disorders":[],"stats":{"number_of_genes":157,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2210","gene_name":"collagen type V alpha 2 chain","omim_gene":["120190"],"alias_name":["AB collagen"],"gene_symbol":"COL5A2","hgnc_symbol":"COL5A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:189896622-190044605","ensembl_id":"ENSG00000204262"}},"GRch38":{"90":{"location":"2:189031896-189179879","ensembl_id":"ENSG00000204262"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL5A2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Ehlers-Danlos syndrome, classic type, 2, MIM# 130010"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":54,"hash_id":null,"name":"Bleeding and Platelet Disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with coagulation, platelet and blood vessel disorders that predispose to bleeding and to thrombosis.","status":"public","version":"1.77","version_created":"2026-04-08T12:32:35.286494+10:00","relevant_disorders":["Abnormal bleeding","HP:0001892;Abnormal thrombosis","HP:0001977"],"stats":{"number_of_genes":140,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["L35"],"biotype":"protein_coding","hgnc_id":"HGNC:10344","gene_name":"ribosomal protein L35","omim_gene":null,"alias_name":["60S ribosomal protein L35"],"gene_symbol":"RPL35","hgnc_symbol":"RPL35","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:127620159-127624260","ensembl_id":"ENSG00000136942"}},"GRch38":{"90":{"location":"9:124857880-124861981","ensembl_id":"ENSG00000136942"}}},"hgnc_date_symbol_changed":"1999-09-16"},"entity_type":"gene","entity_name":"RPL35","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 28280134"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Diamond-Blackfan anemia 19, MIM# 618312"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":56,"hash_id":null,"name":"Bone Marrow Failure","disease_group":"Haematological disorders","disease_sub_group":"","description":"Bone marrow failure (BMF) refers to the decreased production of one or more major haematopoietic lineages which leads to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.","status":"public","version":"1.141","version_created":"2026-03-17T18:48:23.244194+11:00","relevant_disorders":["Abnormality of multiple cell lineages of the bone marrow","HP:0012145"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PTP1E","PTP-BAS","PTPL1","PTP-BL"],"biotype":"protein_coding","hgnc_id":"HGNC:9646","gene_name":"protein tyrosine phosphatase, non-receptor type 13","omim_gene":["600267"],"alias_name":["APO-1/CD95 (Fas)-associated phosphatase"],"gene_symbol":"PTPN13","hgnc_symbol":"PTPN13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:87515468-87736324","ensembl_id":"ENSG00000163629"}},"GRch38":{"90":{"location":"4:86594315-86815171","ensembl_id":"ENSG00000163629"}}},"hgnc_date_symbol_changed":"1995-02-17"},"entity_type":"gene","entity_name":"PTPN13","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["35643866"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["bone marrow failure syndrome MONDO#0000159, PTPN13-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":56,"hash_id":null,"name":"Bone Marrow Failure","disease_group":"Haematological disorders","disease_sub_group":"","description":"Bone marrow failure (BMF) refers to the decreased production of one or more major haematopoietic lineages which leads to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.","status":"public","version":"1.141","version_created":"2026-03-17T18:48:23.244194+11:00","relevant_disorders":["Abnormality of multiple cell lineages of the bone marrow","HP:0012145"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4115","gene_name":"galactosylceramidase","omim_gene":["606890"],"alias_name":["Krabbe disease"],"gene_symbol":"GALC","hgnc_symbol":"GALC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:88304164-88460009","ensembl_id":"ENSG00000054983"}},"GRch38":{"90":{"location":"14:87837820-87993665","ensembl_id":"ENSG00000054983"}}},"hgnc_date_symbol_changed":"1989-06-02"},"entity_type":"gene","entity_name":"GALC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Krabbe disease, MIM#\t245200"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":58,"hash_id":null,"name":"Brain Calcification","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Primary brain calcification disorders are characterised by abnormal deposits of calcium in blood vessels within the brain, particularly the basal ganglia. They typically present with movement disorders and psychiatric or behavioural problems. This panel also contains other multi-system conditions where brain calcification can occur as part of the phenotype.\r\n\r\nThis panel was developed and is maintained by VCGS.\r\n\r\nThe panel has been compared against the Genomics England PanelApp Intracerebral Calcifications panel V1.27 with all discrepancies resolved and reciprocal feedback provided to Genomics England.\r\n\r\nUpdated December 2025 following literature review.","status":"public","version":"2.6","version_created":"2026-01-08T18:01:53.861975+11:00","relevant_disorders":["Cerebral calcification","HP:0002514"],"stats":{"number_of_genes":96,"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":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301791","29358615","22405928"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["POLG-related disorders"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"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"},{"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:18622","gene_name":"component of oligomeric golgi complex 7","omim_gene":["606978"],"alias_name":null,"gene_symbol":"COG7","hgnc_symbol":"COG7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:23399814-23464501","ensembl_id":"ENSG00000168434"}},"GRch38":{"90":{"location":"16:23388493-23453180","ensembl_id":"ENSG00000168434"}}},"hgnc_date_symbol_changed":"2002-05-09"},"entity_type":"gene","entity_name":"COG7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15107842","17356545","28883096"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type IIe , MIM#608779"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":null},{"gene_data":{"alias":["DKFZP564F0923","KIAA1471","HD-PTP"],"biotype":"protein_coding","hgnc_id":"HGNC:14406","gene_name":"protein tyrosine phosphatase, non-receptor type 23","omim_gene":["606584"],"alias_name":null,"gene_symbol":"PTPN23","hgnc_symbol":"PTPN23","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:47422501-47454931","ensembl_id":"ENSG00000076201"}},"GRch38":{"90":{"location":"3:47381011-47413441","ensembl_id":"ENSG00000076201"}}},"hgnc_date_symbol_changed":"2001-02-15"},"entity_type":"gene","entity_name":"PTPN23","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["31395947","25558065","34064836"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TLS","FUS1","hnRNP-P2","HNRNPP2"],"biotype":"protein_coding","hgnc_id":"HGNC:4010","gene_name":"FUS RNA binding protein","omim_gene":["137070"],"alias_name":["heterogeneous nuclear ribonucleoprotein P2","translocated in liposarcoma"],"gene_symbol":"FUS","hgnc_symbol":"FUS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:31191431-31203127","ensembl_id":"ENSG00000089280"}},"GRch38":{"90":{"location":"16:31180110-31194871","ensembl_id":"ENSG00000089280"}}},"hgnc_date_symbol_changed":"1992-11-26"},"entity_type":"gene","entity_name":"FUS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Essential tremor, MIM#614782"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["HYPB","HIF-1","KIAA1732","FLJ23184","KMT3A"],"biotype":"protein_coding","hgnc_id":"HGNC:18420","gene_name":"SET domain containing 2","omim_gene":["612778"],"alias_name":null,"gene_symbol":"SETD2","hgnc_symbol":"SETD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:47057919-47205457","ensembl_id":"ENSG00000181555"}},"GRch38":{"90":{"location":"3:47016429-47163967","ensembl_id":"ENSG00000181555"}}},"hgnc_date_symbol_changed":"2006-02-15"},"entity_type":"gene","entity_name":"SETD2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247","33528536"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Intellectual developmental disorder, autosomal dominant 70, MIM#620157","Luscan-Lumish syndrome, MIM#61683","Rabin-Pappas syndrome, MIM#620155"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["IKK-gamma","NEMO","Fip3p","FIP-3","FIP3","ZC2HC9"],"biotype":null,"hgnc_id":"HGNC:5961","gene_name":"inhibitor of nuclear factor kappa B kinase subunit gamma","omim_gene":["300248"],"alias_name":null,"gene_symbol":"IKBKG","hgnc_symbol":"IKBKG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153769414-153796782","ensembl_id":"ENSG00000073009"}},"GRch38":{"90":{"location":"X:154541199-154565046","ensembl_id":"ENSG00000269335"}}},"hgnc_date_symbol_changed":"1998-09-30"},"entity_type":"gene","entity_name":"IKBKG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["12588226","30151858","10839543","11673821"],"evidence":["Expert Review Green","Expert Review Green","Literature","Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Incontinentia pigmenti (MIM#308300)"],"mode_of_inheritance":"Other","tags":["SV/CNV"],"panel":{"id":101,"hash_id":null,"name":"Epidermolysis bullosa","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.","status":"public","version":"1.27","version_created":"2026-03-08T22:19:30.435795+11:00","relevant_disorders":["Abnormal blistering of the skin","HP:0008066"],"stats":{"number_of_genes":46,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FSP1","AD-FSP"],"biotype":"protein_coding","hgnc_id":"HGNC:11231","gene_name":"atlastin GTPase 1","omim_gene":["606439"],"alias_name":["atlastin"],"gene_symbol":"ATL1","hgnc_symbol":"ATL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:50999227-51099786","ensembl_id":"ENSG00000198513"}},"GRch38":{"90":{"location":"14:50532509-50633068","ensembl_id":"ENSG00000198513"}}},"hgnc_date_symbol_changed":"2008-09-17"},"entity_type":"gene","entity_name":"ATL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21194679","24604904","22340599","16401858","16537571","17657515","28396731","24473461","26888483"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neuropathy, hereditary sensory, type ID , MIM#613708","MONDO:0013381","Spastic paraplegia 3A, MIM 182600","Hereditary spastic paraplegia, AR"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8653","gene_name":"propionyl-CoA carboxylase alpha subunit","omim_gene":["232000"],"alias_name":null,"gene_symbol":"PCCA","hgnc_symbol":"PCCA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:100741269-101182686","ensembl_id":"ENSG00000175198"}},"GRch38":{"90":{"location":"13:100089015-100530437","ensembl_id":"ENSG00000175198"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PCCA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17966092","10101253","9887338"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Propionicacidaemia - MIM#606054"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MEL-18"],"biotype":null,"hgnc_id":"HGNC:12929","gene_name":"polycomb group ring finger 2","omim_gene":["600346"],"alias_name":null,"gene_symbol":"PCGF2","hgnc_symbol":"PCGF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:36890150-36906070","ensembl_id":"ENSG00000056661"}},"GRch38":{"90":{"location":"17:38733897-38749817","ensembl_id":"ENSG00000277258"}}},"hgnc_date_symbol_changed":"2005-01-19"},"entity_type":"gene","entity_name":"PCGF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30343942"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Turnpenny-Fry syndrome, MIM# 618371"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RPF-1"],"biotype":"protein_coding","hgnc_id":"HGNC:21694","gene_name":"POU class 6 homeobox 2","omim_gene":["609062"],"alias_name":["Retina-derived POU-domain factor-1"],"gene_symbol":"POU6F2","hgnc_symbol":"POU6F2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:39017598-39532694","ensembl_id":"ENSG00000106536"}},"GRch38":{"90":{"location":"7:38977998-39493095","ensembl_id":"ENSG00000106536"}}},"hgnc_date_symbol_changed":"2004-01-29"},"entity_type":"gene","entity_name":"POU6F2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["POPX1","KIAA1072","PP2CH","CaMKP-N"],"biotype":"protein_coding","hgnc_id":"HGNC:19322","gene_name":"protein phosphatase, Mg2+/Mn2+ dependent 1E","omim_gene":null,"alias_name":["partner of PIX 1","nuclear calmodulin-dependent protein kinase phosphatase"],"gene_symbol":"PPM1E","hgnc_symbol":"PPM1E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:56833230-57058983","ensembl_id":"ENSG00000175175"}},"GRch38":{"90":{"location":"17:58755869-58985176","ensembl_id":"ENSG00000175175"}}},"hgnc_date_symbol_changed":"2002-11-28"},"entity_type":"gene","entity_name":"PPM1E","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["UGAT","UGT","UGT1","UGT2","UGTL"],"biotype":"protein_coding","hgnc_id":"HGNC:11022","gene_name":"solute carrier family 35 member A2","omim_gene":["314375"],"alias_name":null,"gene_symbol":"SLC35A2","hgnc_symbol":"SLC35A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48760459-48769235","ensembl_id":"ENSG00000102100"}},"GRch38":{"90":{"location":"X:48903180-48911958","ensembl_id":"ENSG00000102100"}}},"hgnc_date_symbol_changed":"1995-02-24"},"entity_type":"gene","entity_name":"SLC35A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23561849","24115232","27743886","25778940","33407896"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854","Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)"],"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":["somatic"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ38577","NET23","ERIS","MPYS","STING","MITA"],"biotype":"protein_coding","hgnc_id":"HGNC:27962","gene_name":"transmembrane protein 173","omim_gene":["612374"],"alias_name":["stimulator of interferon genes"],"gene_symbol":"TMEM173","hgnc_symbol":"TMEM173","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:138855119-138862520","ensembl_id":"ENSG00000184584"}},"GRch38":{"90":{"location":"5:139475534-139482935","ensembl_id":"ENSG00000184584"}}},"hgnc_date_symbol_changed":"2006-08-24"},"entity_type":"gene","entity_name":"TMEM173","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25401470","25029335","32673614","36275728"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["STING-associated vasculopathy, infantile-onset, MIM# 615934"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ARHGEF23"],"biotype":"protein_coding","hgnc_id":"HGNC:12303","gene_name":"trio Rho guanine nucleotide exchange factor","omim_gene":["601893"],"alias_name":null,"gene_symbol":"TRIO","hgnc_symbol":"TRIO","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:14143811-14532235","ensembl_id":"ENSG00000038382"}},"GRch38":{"90":{"location":"5:14143702-14532128","ensembl_id":"ENSG00000038382"}}},"hgnc_date_symbol_changed":"1997-01-29"},"entity_type":"gene","entity_name":"TRIO","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26721934","32109419"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mental retardation, autosomal dominant 44, MIM# 617061"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LOH1CR12"],"biotype":"protein_coding","hgnc_id":"HGNC:17950","gene_name":"BLOC-1 related complex subunit 5","omim_gene":["616598"],"alias_name":["myrlysin"],"gene_symbol":"BORCS5","hgnc_symbol":"BORCS5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:12510013-12619840","ensembl_id":"ENSG00000165714"}},"GRch38":{"90":{"location":"12:12357079-12469694","ensembl_id":"ENSG00000165714"}}},"hgnc_date_symbol_changed":"2015-08-07"},"entity_type":"gene","entity_name":"BORCS5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40385417"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Lysosomal storage disease, MONDO:0002561, BORCS5-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RPC62","RPC3"],"biotype":"protein_coding","hgnc_id":"HGNC:30076","gene_name":"RNA polymerase III subunit C","omim_gene":["617454"],"alias_name":null,"gene_symbol":"POLR3C","hgnc_symbol":"POLR3C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:145592605-145611025","ensembl_id":"ENSG00000186141"}},"GRch38":{"90":{"location":"1:145824088-145842505","ensembl_id":"ENSG00000186141"}}},"hgnc_date_symbol_changed":"2004-04-21"},"entity_type":"gene","entity_name":"POLR3C","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["28783042"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Severe VZV infection"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DKFZp564K142","IAP","OST3B","MRX95"],"biotype":"protein_coding","hgnc_id":"HGNC:28880","gene_name":"magnesium transporter 1","omim_gene":["300715"],"alias_name":["oligosaccharyltransferase 3 homolog B (S. cerevisiae)"],"gene_symbol":"MAGT1","hgnc_symbol":"MAGT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:77081861-77151090","ensembl_id":"ENSG00000102158"}},"GRch38":{"90":{"location":"X:77826364-77895593","ensembl_id":"ENSG00000102158"}}},"hgnc_date_symbol_changed":"2008-01-18"},"entity_type":"gene","entity_name":"MAGT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31036665","31714901"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type Icc (MIM# 301031)","Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CPX","CPXD","CHO2"],"biotype":"protein_coding","hgnc_id":"HGNC:3133","gene_name":"emopamil binding protein (sterol isomerase)","omim_gene":["300205"],"alias_name":["3-beta-hydroxysteroid-delta-8,delta-7-isomerase","Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)","sterol 8-isomerase"],"gene_symbol":"EBP","hgnc_symbol":"EBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48379546-48387104","ensembl_id":"ENSG00000147155"}},"GRch38":{"90":{"location":"X:48521158-48528716","ensembl_id":"ENSG00000147155"}}},"hgnc_date_symbol_changed":"2000-02-21"},"entity_type":"gene","entity_name":"EBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10391218","10391219"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Chondrodysplasia punctata, X-linked dominant MIM#302960","Conradi-Hunermann syndrome","MEND syndrome, MIM#300960"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2888","gene_name":"disrupted in schizophrenia 1","omim_gene":["605210"],"alias_name":null,"gene_symbol":"DISC1","hgnc_symbol":"DISC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:231762561-232177018","ensembl_id":"ENSG00000162946"}},"GRch38":{"90":{"location":"1:231626815-232041272","ensembl_id":"ENSG00000162946"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"DISC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["18945897","21739582"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{Schizophrenia 9, susceptibility to} MIM#604906","Corpus callosum agenesis, MONDO:0009022, DISC1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OASIS"],"biotype":"protein_coding","hgnc_id":"HGNC:18856","gene_name":"cAMP responsive element binding protein 3 like 1","omim_gene":["616215"],"alias_name":["BBF-2 homolog (drosophila)"],"gene_symbol":"CREB3L1","hgnc_symbol":"CREB3L1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:46299212-46342972","ensembl_id":"ENSG00000157613"}},"GRch38":{"90":{"location":"11:46277661-46321422","ensembl_id":"ENSG00000157613"}}},"hgnc_date_symbol_changed":"2003-12-09"},"entity_type":"gene","entity_name":"CREB3L1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24079343","28817112","29936144","30657919"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Osteogenesis imperfecta, type XVI, MIM#616229"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Htra2-beta","PPP1R156"],"biotype":"protein_coding","hgnc_id":"HGNC:10781","gene_name":"transformer 2 beta homolog","omim_gene":["602719"],"alias_name":["protein phosphatase 1, regulatory subunit 156"],"gene_symbol":"TRA2B","hgnc_symbol":"TRA2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:185633694-185655924","ensembl_id":"ENSG00000136527"}},"GRch38":{"90":{"location":"3:185915906-185938136","ensembl_id":"ENSG00000136527"}}},"hgnc_date_symbol_changed":"2009-02-27"},"entity_type":"gene","entity_name":"TRA2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 36549593"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ramond-Elliott neurodevelopmental syndrome, MIM# 621421"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0699"],"biotype":"protein_coding","hgnc_id":"HGNC:17208","gene_name":"BICD cargo adaptor 2","omim_gene":["609797"],"alias_name":null,"gene_symbol":"BICD2","hgnc_symbol":"BICD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:95473645-95527094","ensembl_id":"ENSG00000185963"}},"GRch38":{"90":{"location":"9:92711363-92764812","ensembl_id":"ENSG00000185963"}}},"hgnc_date_symbol_changed":"2003-11-14"},"entity_type":"gene","entity_name":"BICD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["35896821","23664116","23664119","23664120","27751653","28635954","30054298","29528393"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neurodevelopmental disorder (MONDO#0700092), BICD2-related","Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290","MONDO:0014121","Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ25351"],"biotype":"protein_coding","hgnc_id":"HGNC:14438","gene_name":"C2 calcium dependent domain containing 6","omim_gene":null,"alias_name":null,"gene_symbol":"C2CD6","hgnc_symbol":"C2CD6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:202352148-202483901","ensembl_id":"ENSG00000155754"}},"GRch38":{"90":{"location":"2:201487425-201619178","ensembl_id":"ENSG00000155754"}}},"hgnc_date_symbol_changed":"2017-02-13"},"entity_type":"gene","entity_name":"C2CD6","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["34919125","34998468","31985809"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Spermatogenic failure 68 , MIM#\t619805"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["C4ST1","C4St-1","C4ST","HSA269537"],"biotype":"protein_coding","hgnc_id":"HGNC:17422","gene_name":"carbohydrate sulfotransferase 11","omim_gene":["610128"],"alias_name":["chondroitin 4-sulfotransferase 1"],"gene_symbol":"CHST11","hgnc_symbol":"CHST11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:104849073-105155792","ensembl_id":"ENSG00000171310"}},"GRch38":{"90":{"location":"12:104455295-104762014","ensembl_id":"ENSG00000171310"}}},"hgnc_date_symbol_changed":"2003-08-06"},"entity_type":"gene","entity_name":"CHST11","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["26436107","29514872"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, MIM# 618167"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["SV/CNV"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ZCW3","KIAA0852","AC004542.C22.1"],"biotype":"protein_coding","hgnc_id":"HGNC:23573","gene_name":"MORC family CW-type zinc finger 2","omim_gene":["616661"],"alias_name":null,"gene_symbol":"MORC2","hgnc_symbol":"MORC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:31321117-31364284","ensembl_id":"ENSG00000133422"}},"GRch38":{"90":{"location":"22:30925130-30968298","ensembl_id":"ENSG00000133422"}}},"hgnc_date_symbol_changed":"2005-06-15"},"entity_type":"gene","entity_name":"MORC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32693025"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Developmental delay","Intellectual disability","Growth retardation","Microcephaly","Craniofacial dysmorphism","Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RAD1","FANCQ"],"biotype":"protein_coding","hgnc_id":"HGNC:3436","gene_name":"ERCC excision repair 4, endonuclease catalytic subunit","omim_gene":["133520"],"alias_name":["xeroderma pigmentosum, complementation group F"],"gene_symbol":"ERCC4","hgnc_symbol":"ERCC4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:14014014-14046202","ensembl_id":"ENSG00000175595"}},"GRch38":{"90":{"location":"16:13920157-13952345","ensembl_id":"ENSG00000175595"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ERCC4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":152,"hash_id":null,"name":"Cancer Predisposition_Paediatric","disease_group":"Cancer","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.133","version_created":"2026-01-12T09:35:45.797477+11:00","relevant_disorders":[],"stats":{"number_of_genes":106,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["THP2","HPE9","THP1"],"biotype":"protein_coding","hgnc_id":"HGNC:4318","gene_name":"GLI family zinc finger 2","omim_gene":["165230"],"alias_name":["tax-responsive element-2 holding protein","tax helper protein 1","tax helper protein 2"],"gene_symbol":"GLI2","hgnc_symbol":"GLI2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:121493199-121750229","ensembl_id":"ENSG00000074047"}},"GRch38":{"90":{"location":"2:120735623-120992653","ensembl_id":"ENSG00000074047"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"GLI2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":159,"hash_id":null,"name":"Polydactyly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes that cause syndromic and non-syndromic polydactyly.","status":"public","version":"0.301","version_created":"2026-03-12T11:30:58.449890+11:00","relevant_disorders":["Polydactyly","HP:0010442"],"stats":{"number_of_genes":141,"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":["KIAA0733"],"biotype":"protein_coding","hgnc_id":"HGNC:17075","gene_name":"TGF-beta activated kinase 1/MAP3K7 binding protein 2","omim_gene":["605101"],"alias_name":null,"gene_symbol":"TAB2","hgnc_symbol":"TAB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:149539777-149732749","ensembl_id":"ENSG00000055208"}},"GRch38":{"90":{"location":"6:149218641-149411613","ensembl_id":"ENSG00000055208"}}},"hgnc_date_symbol_changed":"2010-02-05"},"entity_type":"gene","entity_name":"TAB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 34456334"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like","Congenital heart defects, nonsyndromic, 2 (MIM#614980)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":164,"hash_id":null,"name":"Rasopathy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the ClinGen Rasopathy Working Group gene-disease validity assessments (PMID: 30311384) and against the Genomics England PanelApp Rasopathies panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"0.113","version_created":"2026-01-26T17:08:48.260163+11:00","relevant_disorders":["Rasopathy","MONDO:0021060"],"stats":{"number_of_genes":32,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CMG1","CMG-1","FLJ22621"],"biotype":"protein_coding","hgnc_id":"HGNC:21424","gene_name":"intraflagellar transport 74","omim_gene":["608040"],"alias_name":["capillary morphogenesis protein 1"],"gene_symbol":"IFT74","hgnc_symbol":"IFT74","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:26947037-27062928","ensembl_id":"ENSG00000096872"}},"GRch38":{"90":{"location":"9:26947039-27062930","ensembl_id":"ENSG00000096872"}}},"hgnc_date_symbol_changed":"2005-11-02"},"entity_type":"gene","entity_name":"IFT74","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27486776","32144365"],"evidence":["Expert Review Green","Literature","KidGen_CilioNephronop v38.1.0"],"phenotypes":["Bardet-Biedl syndrome 20 617119"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":193,"hash_id":null,"name":"Renal Ciliopathies and Nephronophthisis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen","status":"public","version":"1.53","version_created":"2026-03-19T17:14:29.802874+11:00","relevant_disorders":["Abnormality of renal medullary morphology","HP:0025361; Renal cyst","HP:0000107"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":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":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Encephalopathy, porphyria-related MIM#620704","Leukoencephalopathy, porphyria-related, MIM#620711"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CHS"],"biotype":"protein_coding","hgnc_id":"HGNC:1968","gene_name":"lysosomal trafficking regulator","omim_gene":["606897"],"alias_name":null,"gene_symbol":"LYST","hgnc_symbol":"LYST","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:235824341-236046940","ensembl_id":"ENSG00000143669"}},"GRch38":{"90":{"location":"1:235661041-235883640","ensembl_id":"ENSG00000143669"}}},"hgnc_date_symbol_changed":"2004-12-10"},"entity_type":"gene","entity_name":"LYST","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":["treatable"],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.43","version_created":"2026-04-06T13:01:39.255117+10:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":118,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLVCR","MFSD7B","PCA"],"biotype":"protein_coding","hgnc_id":"HGNC:24682","gene_name":"feline leukemia virus subgroup C cellular receptor 1","omim_gene":["609144"],"alias_name":null,"gene_symbol":"FLVCR1","hgnc_symbol":"FLVCR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:213031597-213072705","ensembl_id":"ENSG00000162769"}},"GRch38":{"90":{"location":"1:212858255-212899363","ensembl_id":"ENSG00000162769"}}},"hgnc_date_symbol_changed":"2007-05-01"},"entity_type":"gene","entity_name":"FLVCR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["39306721"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["neurodevelopmental disorder MONDO:0700092, FLVCR1-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9839","gene_name":"RAS like proto-oncogene A","omim_gene":["179550"],"alias_name":["RAS-like protein A","Ras-related protein Ral-A","Ras family small GTP binding protein RALA","ras related GTP binding protein A"],"gene_symbol":"RALA","hgnc_symbol":"RALA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:39663082-39747723","ensembl_id":"ENSG00000006451"}},"GRch38":{"90":{"location":"7:39623483-39708124","ensembl_id":"ENSG00000006451"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"RALA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30500825"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311","Intellectual disability","short stature","dysmorphism"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0929","MINT","SHARP","RBM15C"],"biotype":"protein_coding","hgnc_id":"HGNC:17575","gene_name":"spen family transcriptional repressor","omim_gene":["613484"],"alias_name":null,"gene_symbol":"SPEN","hgnc_symbol":"SPEN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:16174359-16266955","ensembl_id":"ENSG00000065526"}},"GRch38":{"90":{"location":"1:15847864-15940460","ensembl_id":"ENSG00000065526"}}},"hgnc_date_symbol_changed":"2004-12-13"},"entity_type":"gene","entity_name":"SPEN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33057194","33596411"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Radio-Tartaglia syndrome, MIM# 619312","Intellectual disability","autism","congenital anomalies"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MDC3"],"biotype":"protein_coding","hgnc_id":"HGNC:202","gene_name":"ADAM metallopeptidase domain 23","omim_gene":["603710"],"alias_name":null,"gene_symbol":"ADAM23","hgnc_symbol":"ADAM23","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:207308263-207485851","ensembl_id":"ENSG00000114948"}},"GRch38":{"90":{"location":"2:206443539-206621130","ensembl_id":"ENSG00000114948"}}},"hgnc_date_symbol_changed":"1998-12-01"},"entity_type":"gene","entity_name":"ADAM23","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 40455867"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neonatal-onset developmental and epileptic encephalopathy, MONDO:0100455, ADAM23-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9390","gene_name":"protein kinase cAMP-dependent type I regulatory subunit beta","omim_gene":["176911"],"alias_name":null,"gene_symbol":"PRKAR1B","hgnc_symbol":"PRKAR1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:588834-767287","ensembl_id":"ENSG00000188191"}},"GRch38":{"90":{"location":"7:549197-727650","ensembl_id":"ENSG00000188191"}}},"hgnc_date_symbol_changed":"1991-07-17"},"entity_type":"gene","entity_name":"PRKAR1B","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["25414040","33057194","33833410"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Marbach-Schaaf neurodevelopmental syndrome MIM#619680","Global developmental delay","Intellectual disability","Autism","Attention deficit hyperactivity disorder","Aggressive behavior","Abnormality of movement","Upslanted palpebral fissure"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":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","27066553"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Pontocerebellar hypoplasia, type 9, MIM#615809"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PNAS-11","RIP5"],"biotype":"protein_coding","hgnc_id":"HGNC:15870","gene_name":"chromosome 20 open reading frame 24","omim_gene":null,"alias_name":null,"gene_symbol":"C20orf24","hgnc_symbol":"C20orf24","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:35234137-35240960","ensembl_id":"ENSG00000101084"}},"GRch38":{"90":{"location":"20:36605734-36612557","ensembl_id":"ENSG00000101084"}}},"hgnc_date_symbol_changed":"2001-06-21"},"entity_type":"gene","entity_name":"C20orf24","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["35614220","24194475"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2, MIM# 616994"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ12847","BRIT1"],"biotype":"protein_coding","hgnc_id":"HGNC:6954","gene_name":"microcephalin 1","omim_gene":["607117"],"alias_name":["BRCT-repeat inhibitor of TERT expression 1"],"gene_symbol":"MCPH1","hgnc_symbol":"MCPH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:6264113-6501144","ensembl_id":"ENSG00000147316"}},"GRch38":{"90":{"location":"8:6406592-6648504","ensembl_id":"ENSG00000147316"}}},"hgnc_date_symbol_changed":"1998-02-11"},"entity_type":"gene","entity_name":"MCPH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12046007","15199523","16311745","20978018","32294449","30351297","29026105"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Microcephaly 1, primary, autosomal recessive, MIM# 251200","MONDO:0009617"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ12270"],"biotype":"protein_coding","hgnc_id":"HGNC:25706","gene_name":"WD repeat domain 59","omim_gene":["617418"],"alias_name":null,"gene_symbol":"WDR59","hgnc_symbol":"WDR59","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:74907468-75034071","ensembl_id":"ENSG00000103091"}},"GRch38":{"90":{"location":"16:74871367-75000173","ensembl_id":"ENSG00000103091"}}},"hgnc_date_symbol_changed":"2005-04-12"},"entity_type":"gene","entity_name":"WDR59","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["41715954"],"evidence":["Expert Review Amber","Literature","Literature"],"phenotypes":["Syndromic disease, MONDO:0002254"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MPDS","CDGIE"],"biotype":"protein_coding","hgnc_id":"HGNC:3005","gene_name":"dolichyl-phosphate mannosyltransferase subunit 1, catalytic","omim_gene":["603503"],"alias_name":["DPM synthase complex, catalytic subunit"],"gene_symbol":"DPM1","hgnc_symbol":"DPM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:49551404-49575092","ensembl_id":"ENSG00000000419"}},"GRch38":{"90":{"location":"20:50934867-50958555","ensembl_id":"ENSG00000000419"}}},"hgnc_date_symbol_changed":"1999-02-23"},"entity_type":"gene","entity_name":"DPM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23856421","15669674","10642602"],"evidence":["Illumina TruGenome Clinical Sequencing Services","UKGTN","Radboud University Medical Center, Nijmegen","Expert Review Green","NHS GMS","Expert list","Emory Genetics Laboratory"],"phenotypes":["Congenital disorder of glycosylation, type Ie 608799"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.431","version_created":"2026-04-22T15:50:41.067259+10:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["A1","PO-GA","RFC140","MHCBFB"],"biotype":"protein_coding","hgnc_id":"HGNC:9969","gene_name":"replication factor C subunit 1","omim_gene":["102579"],"alias_name":null,"gene_symbol":"RFC1","hgnc_symbol":"RFC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:39289076-39367995","ensembl_id":"ENSG00000035928"}},"GRch38":{"90":{"location":"4:39287456-39366375","ensembl_id":"ENSG00000035928"}}},"hgnc_date_symbol_changed":"1994-10-14"},"entity_type":"gene","entity_name":"RFC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30926972","33103729","35883251","36478048","36289003"],"evidence":["Literature","Expert list","Expert Review Green","Expert Review Green","Expert list","Literature"],"phenotypes":["Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["STR"],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["retGC","RETGC-1","ROS-GC1","CYGD","LCA1"],"biotype":"protein_coding","hgnc_id":"HGNC:4689","gene_name":"guanylate cyclase 2D, retinal","omim_gene":["600179"],"alias_name":["rod outer segment membrane guanylate cyclase","retinal guanylate cyclase 1"],"gene_symbol":"GUCY2D","hgnc_symbol":"GUCY2D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7905912-7923657","ensembl_id":"ENSG00000132518"}},"GRch38":{"90":{"location":"17:8002594-8020339","ensembl_id":"ENSG00000132518"}}},"hgnc_date_symbol_changed":"1993-11-09"},"entity_type":"gene","entity_name":"GUCY2D","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Achromatopsia, Cone, and Cone-rod Dystrophy","Cone-rod dystrophy 6 (AD)","Leber congenital amaurosis 1, 204000","Retinitis pigmentosa"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":277,"hash_id":null,"name":"Retinitis pigmentosa","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.","status":"public","version":"0.245","version_created":"2026-03-28T13:33:23.781842+11:00","relevant_disorders":["Abnormal retinal morphology","HP:0000479"],"stats":{"number_of_genes":159,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC5347","FLJ12286"],"biotype":"protein_coding","hgnc_id":"HGNC:28762","gene_name":"spermatogenesis associated 5 like 1","omim_gene":null,"alias_name":null,"gene_symbol":"SPATA5L1","hgnc_symbol":"SPATA5L1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:45694529-45713617","ensembl_id":"ENSG00000171763"}},"GRch38":{"90":{"location":"15:45402331-45421419","ensembl_id":"ENSG00000171763"}}},"hgnc_date_symbol_changed":"2004-03-16"},"entity_type":"gene","entity_name":"SPATA5L1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34626583"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CAR","SPG5C"],"biotype":"protein_coding","hgnc_id":"HGNC:11237","gene_name":"SPG7, paraplegin matrix AAA peptidase subunit","omim_gene":["602783"],"alias_name":["paraplegin"],"gene_symbol":"SPG7","hgnc_symbol":"SPG7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:89557325-89624176","ensembl_id":"ENSG00000197912"}},"GRch38":{"90":{"location":"16:89490917-89557768","ensembl_id":"ENSG00000197912"}}},"hgnc_date_symbol_changed":"1998-06-25"},"entity_type":"gene","entity_name":"SPG7","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["20108356","17646629"],"evidence":["Expert list","Expert Review Amber","Expert list"],"phenotypes":["Spastic paraplegia 7, autosomal recessive 607259"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["EFGM","GFM","EGF1"],"biotype":"protein_coding","hgnc_id":"HGNC:13780","gene_name":"G elongation factor mitochondrial 1","omim_gene":["606639"],"alias_name":null,"gene_symbol":"GFM1","hgnc_symbol":"GFM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:158362067-158410364","ensembl_id":"ENSG00000168827"}},"GRch38":{"90":{"location":"3:158644278-158692575","ensembl_id":"ENSG00000168827"}}},"hgnc_date_symbol_changed":"2004-11-25"},"entity_type":"gene","entity_name":"GFM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Combined oxidative phosphorylation deficiency 1","Mitochondrial Leukoencephalopathy","General Leukodystrophy & Mitochondrial Leukoencephalopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GASP","GASP1"],"biotype":"protein_coding","hgnc_id":"HGNC:24834","gene_name":"G protein-coupled receptor associated sorting protein 1","omim_gene":["300417"],"alias_name":null,"gene_symbol":"GPRASP1","hgnc_symbol":"GPRASP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:101906294-101914011","ensembl_id":"ENSG00000198932"}},"GRch38":{"90":{"location":"X:102651366-102659083","ensembl_id":"ENSG00000198932"}}},"hgnc_date_symbol_changed":"2004-08-25"},"entity_type":"gene","entity_name":"GPRASP1","confidence_level":"2","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["37787182"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Arteriovenous hemangioma/malformation, GPRASP1-related, MONDO:0001256"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":300,"hash_id":null,"name":"Vascular Malformations_Germline","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes that cause Mendelian vascular malformation disorders, particularly those presenting with skin lesions. Genes causing sporadic and congenital vascular malformations through somatic activating mutations are rated Red and labelled 'somatic'. This gene panel is maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nIf a sample of affected tissue is being tested, please use the Vascular Malformations_Somatic panel.","status":"public","version":"1.13","version_created":"2026-01-24T18:03:26.952041+11:00","relevant_disorders":["Abnormal vascular morphology HP:0025015"],"stats":{"number_of_genes":42,"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":["PGP9.5","Uch-L1"],"biotype":"protein_coding","hgnc_id":"HGNC:12513","gene_name":"ubiquitin C-terminal hydrolase L1","omim_gene":["191342"],"alias_name":["ubiquitin thiolesterase"],"gene_symbol":"UCHL1","hgnc_symbol":"UCHL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:41258430-41270472","ensembl_id":"ENSG00000154277"}},"GRch38":{"90":{"location":"4:41256413-41268455","ensembl_id":"ENSG00000154277"}}},"hgnc_date_symbol_changed":"1991-07-15"},"entity_type":"gene","entity_name":"UCHL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35986737"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodegenerative disease, MONDO:0005559, UCHL1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":[]},{"gene_data":{"alias":["MGC21981"],"biotype":"protein_coding","hgnc_id":"HGNC:23673","gene_name":"MAM domain containing 2","omim_gene":["612879"],"alias_name":null,"gene_symbol":"MAMDC2","hgnc_symbol":"MAMDC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:72658497-72841886","ensembl_id":"ENSG00000165072"}},"GRch38":{"90":{"location":"9:70043581-70226970","ensembl_id":"ENSG00000165072"}}},"hgnc_date_symbol_changed":"2003-12-01"},"entity_type":"gene","entity_name":"MAMDC2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["37503746"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Muscular Dystrophy MONDO:0020121, MAMDC2-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3071,"hash_id":null,"name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.65","version_created":"2026-01-21T10:59:30.179226+11:00","relevant_disorders":["Limb-girdle muscular dystrophy","MONDO:0016971; Proximal muscle weakness","HP:0003701; Distal myopathy MONDO:0018949"],"stats":{"number_of_genes":102,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TRNL2"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7491","gene_name":"mitochondrially encoded tRNA leucine 2 (CUN)","omim_gene":["590055"],"alias_name":null,"gene_symbol":"MT-TL2","hgnc_symbol":"MT-TL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:12266-12336","ensembl_id":"ENSG00000210191"}},"GRch38":{"90":{"location":"MT:12266-12336","ensembl_id":"ENSG00000210191"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["8923013","12398839","19718780","18977334","21819490","15649400","15591266","23847141","20022607","29052516"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TL2-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":3084,"hash_id":null,"name":"Rhabdomyolysis and Metabolic Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nDepending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.46","version_created":"2026-03-31T19:05:14.301918+11:00","relevant_disorders":["Rhabdomyolysis","HP:0003201;Exercise intolerance","HP:0003546;Metabolic myopathy","MONDO:0020123"],"stats":{"number_of_genes":124,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Tom7"],"biotype":"protein_coding","hgnc_id":"HGNC:21648","gene_name":"translocase of outer mitochondrial membrane 7","omim_gene":["607980"],"alias_name":null,"gene_symbol":"TOMM7","hgnc_symbol":"TOMM7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:22852251-22862470","ensembl_id":"ENSG00000196683"}},"GRch38":{"90":{"location":"7:22812628-22822852","ensembl_id":"ENSG00000196683"}}},"hgnc_date_symbol_changed":"2003-07-21"},"entity_type":"gene","entity_name":"TOMM7","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["36299998","36282599"],"evidence":["Literature","Expert Review Amber","Expert Review Amber","Literature"],"phenotypes":["Garg-Mishra progeroid syndrome, MIM# 620601"],"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":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ11712"],"biotype":"protein_coding","hgnc_id":"HGNC:25671","gene_name":"ribonuclease H2 subunit B","omim_gene":["610326"],"alias_name":null,"gene_symbol":"RNASEH2B","hgnc_symbol":"RNASEH2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:51483814-51544592","ensembl_id":"ENSG00000136104"}},"GRch38":{"90":{"location":"13:50909678-50973745","ensembl_id":"ENSG00000136104"}}},"hgnc_date_symbol_changed":"2006-08-17"},"entity_type":"gene","entity_name":"RNASEH2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Aicardi-Goutieres syndrome 2, 610181 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0596"],"biotype":"protein_coding","hgnc_id":"HGNC:29536","gene_name":"mitogen-activated protein kinase binding protein 1","omim_gene":["616786"],"alias_name":null,"gene_symbol":"MAPKBP1","hgnc_symbol":"MAPKBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:42066632-42120053","ensembl_id":"ENSG00000137802"}},"GRch38":{"90":{"location":"15:41774434-41827855","ensembl_id":"ENSG00000137802"}}},"hgnc_date_symbol_changed":"2005-07-21"},"entity_type":"gene","entity_name":"MAPKBP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Nephronophthisis 20, 617271 (3), Autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CGI-92"],"biotype":"protein_coding","hgnc_id":"HGNC:19693","gene_name":"coenzyme Q4","omim_gene":["612898"],"alias_name":null,"gene_symbol":"COQ4","hgnc_symbol":"COQ4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:131084815-131096351","ensembl_id":"ENSG00000167113"}},"GRch38":{"90":{"location":"9:128322536-128334072","ensembl_id":"ENSG00000167113"}}},"hgnc_date_symbol_changed":"2003-01-10"},"entity_type":"gene","entity_name":"COQ4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Coenzyme Q10 deficiency, primary, 7, 616276 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC35212"],"biotype":"protein_coding","hgnc_id":"HGNC:28569","gene_name":"meiosis specific with OB domains","omim_gene":["617670"],"alias_name":null,"gene_symbol":"MEIOB","hgnc_symbol":"MEIOB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:1883984-1934295","ensembl_id":"ENSG00000162039"}},"GRch38":{"90":{"location":"16:1833983-1884294","ensembl_id":"ENSG00000162039"}}},"hgnc_date_symbol_changed":"2012-08-13"},"entity_type":"gene","entity_name":"MEIOB","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["34794894","24068956","31000419"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Primary ovarian insufficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.414","version_created":"2026-04-13T17:24:24.650771+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HGPS","MADA"],"biotype":"protein_coding","hgnc_id":"HGNC:6636","gene_name":"lamin A/C","omim_gene":["150330"],"alias_name":["mandibuloacral dysplasia type A"],"gene_symbol":"LMNA","hgnc_symbol":"LMNA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:156052364-156109880","ensembl_id":"ENSG00000160789"}},"GRch38":{"90":{"location":"1:156082573-156140089","ensembl_id":"ENSG00000160789"}}},"hgnc_date_symbol_changed":"1992-04-09"},"entity_type":"gene","entity_name":"LMNA","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Royal Melbourne Hospital"],"phenotypes":["Laminopathy (MONDO#0021106), LMNA-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.414","version_created":"2026-04-13T17:24:24.650771+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FAST1"],"biotype":"protein_coding","hgnc_id":"HGNC:3814","gene_name":"forkhead box H1","omim_gene":["603621"],"alias_name":null,"gene_symbol":"FOXH1","hgnc_symbol":"FOXH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:145698795-145701718","ensembl_id":"ENSG00000160973"}},"GRch38":{"90":{"location":"8:144473412-144476335","ensembl_id":"ENSG00000160973"}}},"hgnc_date_symbol_changed":"1999-12-22"},"entity_type":"gene","entity_name":"FOXH1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Holoprosencephaly","No OMIM number"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3236,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.208","version_created":"2026-04-02T15:15:10.893013+11:00","relevant_disorders":["Hypopituitarism","HP:0040075"],"stats":{"number_of_genes":118,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:714","gene_name":"arylsulfatase B","omim_gene":["611542"],"alias_name":null,"gene_symbol":"ARSB","hgnc_symbol":"ARSB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:78073032-78281910","ensembl_id":"ENSG00000113273"}},"GRch38":{"90":{"location":"5:78777209-78986087","ensembl_id":"ENSG00000113273"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ARSB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","MetBioNet","NHS GMS"],"phenotypes":["MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease)","Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200","Mucopolysaccharidosis Type VI","Mucopolysaccharidosis, Type VI","MUCOPOLYSACCHARIDOSIS TYPE 6"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NKCC2"],"biotype":"protein_coding","hgnc_id":"HGNC:10910","gene_name":"solute carrier family 12 member 1","omim_gene":["600839"],"alias_name":null,"gene_symbol":"SLC12A1","hgnc_symbol":"SLC12A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:48483861-48596275","ensembl_id":"ENSG00000074803"}},"GRch38":{"90":{"location":"15:48191664-48304078","ensembl_id":"ENSG00000074803"}}},"hgnc_date_symbol_changed":"1994-02-16"},"entity_type":"gene","entity_name":"SLC12A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Bartter 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":["Sans","FLJ33924","ANKS4A"],"biotype":"protein_coding","hgnc_id":"HGNC:16356","gene_name":"USH1 protein network component sans","omim_gene":["607696"],"alias_name":null,"gene_symbol":"USH1G","hgnc_symbol":"USH1G","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:72912176-72919351","ensembl_id":"ENSG00000182040"}},"GRch38":{"90":{"location":"17:74916084-74923256","ensembl_id":"ENSG00000182040"}}},"hgnc_date_symbol_changed":"2001-12-07"},"entity_type":"gene","entity_name":"USH1G","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Usher syndrome 1"],"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":["hDIA1","LFHL1"],"biotype":"protein_coding","hgnc_id":"HGNC:2876","gene_name":"diaphanous related formin 1","omim_gene":["602121"],"alias_name":null,"gene_symbol":"DIAPH1","hgnc_symbol":"DIAPH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:140894583-140998622","ensembl_id":"ENSG00000131504"}},"GRch38":{"90":{"location":"5:141515016-141619055","ensembl_id":"ENSG00000131504"}}},"hgnc_date_symbol_changed":"1998-03-17"},"entity_type":"gene","entity_name":"DIAPH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene"],"phenotypes":["Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["cblE"],"biotype":"protein_coding","hgnc_id":"HGNC:7473","gene_name":"5-methyltetrahydrofolate-homocysteine methyltransferase reductase","omim_gene":["602568"],"alias_name":null,"gene_symbol":"MTRR","hgnc_symbol":"MTRR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:7851299-7906138","ensembl_id":"ENSG00000124275"}},"GRch38":{"90":{"location":"5:7851186-7906025","ensembl_id":"ENSG00000124275"}}},"hgnc_date_symbol_changed":"1998-04-20"},"entity_type":"gene","entity_name":"MTRR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Methylmalonic aciduria and homocystinuria"],"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":["p67phox","NOXA2"],"biotype":"protein_coding","hgnc_id":"HGNC:7661","gene_name":"neutrophil cytosolic factor 2","omim_gene":["608515"],"alias_name":["NADPH oxidase activator 2","chronic granulomatous disease, autosomal 2"],"gene_symbol":"NCF2","hgnc_symbol":"NCF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:183524698-183560011","ensembl_id":"ENSG00000116701"}},"GRch38":{"90":{"location":"1:183555563-183590876","ensembl_id":"ENSG00000116701"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"NCF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Chronic granulomatous disease"],"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":["norrin"],"biotype":"protein_coding","hgnc_id":"HGNC:7678","gene_name":"NDP, norrin cystine knot growth factor","omim_gene":["300658"],"alias_name":null,"gene_symbol":"NDP","hgnc_symbol":"NDP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:43808022-43832750","ensembl_id":"ENSG00000124479"}},"GRch38":{"90":{"location":"X:43948776-43973504","ensembl_id":"ENSG00000124479"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NDP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Norrie disease"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2073","gene_name":"tripeptidyl peptidase 1","omim_gene":["607998"],"alias_name":["TPP I"],"gene_symbol":"TPP1","hgnc_symbol":"TPP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:6634000-6640692","ensembl_id":"ENSG00000166340"}},"GRch38":{"90":{"location":"11:6612763-6619461","ensembl_id":"ENSG00000166340"}}},"hgnc_date_symbol_changed":"2004-12-10"},"entity_type":"gene","entity_name":"TPP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Neuronal ceroid lipofuscinosis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:414","gene_name":"aldolase, fructose-bisphosphate A","omim_gene":["103850"],"alias_name":null,"gene_symbol":"ALDOA","hgnc_symbol":"ALDOA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:30064411-30081778","ensembl_id":"ENSG00000149925"}},"GRch38":{"90":{"location":"16:30053090-30070457","ensembl_id":"ENSG00000149925"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ALDOA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8598869","7331996","25392908"],"evidence":["Expert Review Green","Yorkshire and North East GLH","NHS GMS","Wessex and West Midlands GLH","North West GLH","London South GLH"],"phenotypes":["Glycogen storage disease XII , MIM#611881"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3366,"hash_id":null,"name":"Red cell disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.","status":"public","version":"1.52","version_created":"2026-03-28T15:18:36.006857+11:00","relevant_disorders":["Abnormal erythrocyte morphology","HP:0001877"],"stats":{"number_of_genes":116,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2979","gene_name":"DNA methyltransferase 3 beta","omim_gene":["602900"],"alias_name":null,"gene_symbol":"DNMT3B","hgnc_symbol":"DNMT3B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:31350191-31397162","ensembl_id":"ENSG00000088305"}},"GRch38":{"90":{"location":"20:32762385-32809356","ensembl_id":"ENSG00000088305"}}},"hgnc_date_symbol_changed":"1998-07-15"},"entity_type":"gene","entity_name":"DNMT3B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["17893117","23486536"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 267000"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Bloom syndrome, MIM# 210900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.103","version_created":"2026-04-22T15:49:55.410983+10:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TEL1","TELO1"],"biotype":"protein_coding","hgnc_id":"HGNC:795","gene_name":"ATM serine/threonine kinase","omim_gene":["607585"],"alias_name":["TEL1, telomere maintenance 1, homolog (S. cerevisiae)"],"gene_symbol":"ATM","hgnc_symbol":"ATM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:108093211-108239829","ensembl_id":"ENSG00000149311"}},"GRch38":{"90":{"location":"11:108222484-108369102","ensembl_id":"ENSG00000149311"}}},"hgnc_date_symbol_changed":"1995-07-07"},"entity_type":"gene","entity_name":"ATM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30137827"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Ataxia-telangiectasia, MIM# 208900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.103","version_created":"2026-04-22T15:49:55.410983+10:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ZNEUROK1","NKB"],"biotype":"protein_coding","hgnc_id":"HGNC:11521","gene_name":"tachykinin 3","omim_gene":["162330"],"alias_name":["preprotachykinin-B"],"gene_symbol":"TAC3","hgnc_symbol":"TAC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:57403784-57422667","ensembl_id":"ENSG00000166863"}},"GRch38":{"90":{"location":"12:57010000-57028883","ensembl_id":"ENSG00000166863"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"TAC3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Hypogonadotropic hypogonadism 10 with or without anosmia\t, MIM#614839"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp686M22243"],"biotype":"protein_coding","hgnc_id":"HGNC:27049","gene_name":"pleckstrin homology domain containing A7","omim_gene":["612686"],"alias_name":null,"gene_symbol":"PLEKHA7","hgnc_symbol":"PLEKHA7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:16799842-17035990","ensembl_id":"ENSG00000166689"}},"GRch38":{"90":{"location":"11:16777317-17014443","ensembl_id":"ENSG00000166689"}}},"hgnc_date_symbol_changed":"2004-09-01"},"entity_type":"gene","entity_name":"PLEKHA7","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["29805042"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Cleft palate"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["APCL"],"biotype":"protein_coding","hgnc_id":"HGNC:24036","gene_name":"APC2, WNT signaling pathway regulator","omim_gene":["612034"],"alias_name":["adenomatous polyposis coli like"],"gene_symbol":"APC2","hgnc_symbol":"APC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:1446300-1473243","ensembl_id":"ENSG00000115266"}},"GRch38":{"90":{"location":"19:1446302-1473244","ensembl_id":"ENSG00000115266"}}},"hgnc_date_symbol_changed":"2004-03-18"},"entity_type":"gene","entity_name":"APC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31585108"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cortical dysplasia, complex, with other brain malformations 10, MIM#618677"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PiT-1","Glvr-1"],"biotype":"protein_coding","hgnc_id":"HGNC:10946","gene_name":"solute carrier family 20 member 1","omim_gene":["137570"],"alias_name":["gibbon ape leukemia virus receptor 1"],"gene_symbol":"SLC20A1","hgnc_symbol":"SLC20A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:113403434-113421404","ensembl_id":"ENSG00000144136"}},"GRch38":{"90":{"location":"2:112645857-112663827","ensembl_id":"ENSG00000144136"}}},"hgnc_date_symbol_changed":"1989-10-18"},"entity_type":"gene","entity_name":"SLC20A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32850778","27013921"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PXAAA1","PAF-2"],"biotype":"protein_coding","hgnc_id":"HGNC:8859","gene_name":"peroxisomal biogenesis factor 6","omim_gene":["601498"],"alias_name":null,"gene_symbol":"PEX6","hgnc_symbol":"PEX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:42931608-42946958","ensembl_id":"ENSG00000124587"}},"GRch38":{"90":{"location":"6:42963870-42979220","ensembl_id":"ENSG00000124587"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PEX6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21031596","9877282","26700162"],"evidence":["Expert Review Green","Genomics England PanelApp","Literature"],"phenotypes":["Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KEN","KIAA0402","PCN","PCNTB","SCKL4"],"biotype":"protein_coding","hgnc_id":"HGNC:16068","gene_name":"pericentrin","omim_gene":["605925"],"alias_name":["kendrin","Seckel syndrome 4"],"gene_symbol":"PCNT","hgnc_symbol":"PCNT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:47744036-47865682","ensembl_id":"ENSG00000160299"}},"GRch38":{"90":{"location":"21:46324122-46445769","ensembl_id":"ENSG00000160299"}}},"hgnc_date_symbol_changed":"2005-11-03"},"entity_type":"gene","entity_name":"PCNT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18174396","12210304","30922925","33460028","32557621","32267100"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720","MONDO:0008872"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HCF-1","HCF1","CFF","VCAF","MGC70925","PPP1R89"],"biotype":"protein_coding","hgnc_id":"HGNC:4839","gene_name":"host cell factor C1","omim_gene":["300019"],"alias_name":["VP16-accessory protein","protein phosphatase 1, regulatory subunit 89"],"gene_symbol":"HCFC1","hgnc_symbol":"HCFC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153213004-153237258","ensembl_id":"ENSG00000172534"}},"GRch38":{"90":{"location":"X:153947553-153971807","ensembl_id":"ENSG00000172534"}}},"hgnc_date_symbol_changed":"1994-10-14"},"entity_type":"gene","entity_name":"HCFC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34164576","24011988"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Mental retardation, X-linked 3 (methylmalonic acidaemia and homocysteinaemia, cblX type) MIM# 309541"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0473","PARK19"],"biotype":"protein_coding","hgnc_id":"HGNC:15469","gene_name":"DnaJ heat shock protein family (Hsp40) member C6","omim_gene":["608375"],"alias_name":["auxilin"],"gene_symbol":"DNAJC6","hgnc_symbol":"DNAJC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:65713902-65881552","ensembl_id":"ENSG00000116675"}},"GRch38":{"90":{"location":"1:65248219-65415869","ensembl_id":"ENSG00000116675"}}},"hgnc_date_symbol_changed":"2001-03-30"},"entity_type":"gene","entity_name":"DNAJC6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33983693","22563501","23211418","26528954"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Parkinson disease 19, juvenile-onset, 615528 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BNIP-H"],"biotype":"protein_coding","hgnc_id":"HGNC:779","gene_name":"ATCAY, caytaxin","omim_gene":["608179"],"alias_name":["Cayman ataxia","caytaxin"],"gene_symbol":"ATCAY","hgnc_symbol":"ATCAY","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:3879862-3928077","ensembl_id":"ENSG00000167654"}},"GRch38":{"90":{"location":"19:3879864-3928079","ensembl_id":"ENSG00000167654"}}},"hgnc_date_symbol_changed":"1997-01-10"},"entity_type":"gene","entity_name":"ATCAY","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14556008","29449188","23226316","26343454","37752557"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ataxia, cerebellar, Cayman type, 601238 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TACI","CD267","IGAD2"],"biotype":"protein_coding","hgnc_id":"HGNC:18153","gene_name":"TNF receptor superfamily member 13B","omim_gene":["604907"],"alias_name":null,"gene_symbol":"TNFRSF13B","hgnc_symbol":"TNFRSF13B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:16832849-16875432","ensembl_id":"ENSG00000240505"}},"GRch38":{"90":{"location":"17:16929816-16972118","ensembl_id":"ENSG00000240505"}}},"hgnc_date_symbol_changed":"2002-05-22"},"entity_type":"gene","entity_name":"TNFRSF13B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31681265"],"evidence":["Expert Review Red","Mackenzie's Mission"],"phenotypes":["Immunodeficiency, common variable, 2, 240500 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2698","gene_name":"dihydrolipoamide branched chain transacylase E2","omim_gene":["248610"],"alias_name":["dihydrolipoyllysine-residue (2-methylpropanoyl)transferase","lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial"],"gene_symbol":"DBT","hgnc_symbol":"DBT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:100652475-100715390","ensembl_id":"ENSG00000137992"}},"GRch38":{"90":{"location":"1:100186919-100249834","ensembl_id":"ENSG00000137992"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"DBT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29152456","20570198"],"evidence":["Expert Review Green"],"phenotypes":["maple syrup urine disease MONDO:0009563"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LAMAN"],"biotype":"protein_coding","hgnc_id":"HGNC:6826","gene_name":"mannosidase alpha class 2B member 1","omim_gene":["609458"],"alias_name":null,"gene_symbol":"MAN2B1","hgnc_symbol":"MAN2B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:12757325-12777556","ensembl_id":"ENSG00000104774"}},"GRch38":{"90":{"location":"19:12646511-12666742","ensembl_id":"ENSG00000104774"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MAN2B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Mannosidosis, alpha-, types I and II, MIM# 248500"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC3222","DKFZp586G1919","LUMA"],"biotype":"protein_coding","hgnc_id":"HGNC:28472","gene_name":"transmembrane protein 43","omim_gene":["612048"],"alias_name":null,"gene_symbol":"TMEM43","hgnc_symbol":"TMEM43","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:14166440-14185179","ensembl_id":"ENSG00000170876"}},"GRch38":{"90":{"location":"3:14124940-14143679","ensembl_id":"ENSG00000170876"}}},"hgnc_date_symbol_changed":"2005-01-24"},"entity_type":"gene","entity_name":"TMEM43","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["20301310","34674311"],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Arrhythmogenic right ventricular dysplasia 5 MIM#604400"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["cardiac","treatable"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7432","gene_name":"methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1","omim_gene":["172460"],"alias_name":null,"gene_symbol":"MTHFD1","hgnc_symbol":"MTHFD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:64854749-64926722","ensembl_id":"ENSG00000100714"}},"GRch38":{"90":{"location":"14:64388031-64463457","ensembl_id":"ENSG00000100714"}}},"hgnc_date_symbol_changed":"1999-07-23"},"entity_type":"gene","entity_name":"MTHFD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32414565","19033438"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7939","gene_name":"natriuretic peptide A","omim_gene":["108780"],"alias_name":null,"gene_symbol":"NPPA","hgnc_symbol":"NPPA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:11905766-11908402","ensembl_id":"ENSG00000175206"}},"GRch38":{"90":{"location":"1:11845709-11848345","ensembl_id":"ENSG00000175206"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"NPPA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Atrial fibrillation"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:16902","gene_name":"branched chain ketoacid dehydrogenase kinase","omim_gene":["614901"],"alias_name":null,"gene_symbol":"BCKDK","hgnc_symbol":"BCKDK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:31117428-31124110","ensembl_id":"ENSG00000103507"}},"GRch38":{"90":{"location":"16:31106107-31112791","ensembl_id":"ENSG00000103507"}}},"hgnc_date_symbol_changed":"2005-01-20"},"entity_type":"gene","entity_name":"BCKDK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Branched-chain keto acid dehydrogenase kinase deficiency, MIM#\t614923"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OATP-C","LST-1","OATP1B1"],"biotype":"protein_coding","hgnc_id":"HGNC:10959","gene_name":"solute carrier organic anion transporter family member 1B1","omim_gene":["604843"],"alias_name":null,"gene_symbol":"SLCO1B1","hgnc_symbol":"SLCO1B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:21284136-21392180","ensembl_id":"ENSG00000134538"}},"GRch38":{"90":{"location":"12:21131202-21239246","ensembl_id":"ENSG00000134538"}}},"hgnc_date_symbol_changed":"2003-11-26"},"entity_type":"gene","entity_name":"SLCO1B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["19952871","5152405","35968761"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hyperbilirubinemia, Rotor type, digenic\tMIM# 237450"],"mode_of_inheritance":"Other","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:32689","gene_name":"schlafen family member 14","omim_gene":["614958"],"alias_name":null,"gene_symbol":"SLFN14","hgnc_symbol":"SLFN14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:33875144-33885117","ensembl_id":"ENSG00000236320"}},"GRch38":{"90":{"location":"17:35548125-35558098","ensembl_id":"ENSG00000236320"}}},"hgnc_date_symbol_changed":"2006-04-05"},"entity_type":"gene","entity_name":"SLFN14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26280575","26769223"],"evidence":["Expert list","Expert Review Green"],"phenotypes":["Bleeding disorder, platelet-type, 20, MIM# 616913"],"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":["CMD1S"],"biotype":"protein_coding","hgnc_id":"HGNC:7577","gene_name":"myosin heavy chain 7","omim_gene":["160760"],"alias_name":null,"gene_symbol":"MYH7","hgnc_symbol":"MYH7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:23881947-23904927","ensembl_id":"ENSG00000092054"}},"GRch38":{"90":{"location":"14:23412738-23435718","ensembl_id":"ENSG00000092054"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"MYH7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30874888","25935763","30384889","30681346","24119082","21483645","27000522","24558114","21846512","33947203","31179125","27965028"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["MONDO:0013262","Cardiomyopathy, dilated, 1S, MIM# 613426","Cardiomyopathy, hypertrophic, 1, MIM# 192600"],"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":["MGC26979","JBTS6","NPHP11"],"biotype":"protein_coding","hgnc_id":"HGNC:28396","gene_name":"transmembrane protein 67","omim_gene":["609884"],"alias_name":["Meckelin"],"gene_symbol":"TMEM67","hgnc_symbol":"TMEM67","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:94767072-94831462","ensembl_id":"ENSG00000164953"}},"GRch38":{"90":{"location":"8:93754844-93819234","ensembl_id":"ENSG00000164953"}}},"hgnc_date_symbol_changed":"2005-08-04"},"entity_type":"gene","entity_name":"TMEM67","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29891882","20232449","26092869","27336129"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["COACH syndrome 1 MIM#216360","Joubert syndrome 6 MIM#610688","Meckel syndrome 3 MIM#607361","Nephronophthisis 11 MIM#613550"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1313","EIEE9"],"biotype":"protein_coding","hgnc_id":"HGNC:14270","gene_name":"protocadherin 19","omim_gene":["300460"],"alias_name":null,"gene_symbol":"PCDH19","hgnc_symbol":"PCDH19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:99546642-99665271","ensembl_id":"ENSG00000165194"}},"GRch38":{"90":{"location":"X:100291644-100410273","ensembl_id":"ENSG00000165194"}}},"hgnc_date_symbol_changed":"2001-02-02"},"entity_type":"gene","entity_name":"PCDH19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18469813","30287595"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 9 (MIM#300088)"],"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":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3535","gene_name":"coagulation factor II, thrombin","omim_gene":["176930"],"alias_name":["prepro-coagulation factor II"],"gene_symbol":"F2","hgnc_symbol":"F2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:46740730-46761056","ensembl_id":"ENSG00000180210"}},"GRch38":{"90":{"location":"11:46719180-46739506","ensembl_id":"ENSG00000180210"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"F2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23852823"],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Hypoprothrombinaemia (MIM#613679)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MOZ","ZC2HC6A"],"biotype":"protein_coding","hgnc_id":"HGNC:13013","gene_name":"lysine acetyltransferase 6A","omim_gene":["601408"],"alias_name":["Monocytic leukemia zinc finger protein"],"gene_symbol":"KAT6A","hgnc_symbol":"KAT6A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:41786997-41909508","ensembl_id":"ENSG00000083168"}},"GRch38":{"90":{"location":"8:41929479-42051990","ensembl_id":"ENSG00000083168"}}},"hgnc_date_symbol_changed":"2011-07-21"},"entity_type":"gene","entity_name":"KAT6A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["35892268","38366112","30245513"],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Arboleda-Tham syndrome, MIM# 616268"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4290,"hash_id":null,"name":"Speech apraxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Childhood apraxia of speech (CAS; synonymous with speech apraxia/dyspraxia or verbal apraxia/dyspraxia) is a non-progressive neurodevelopmental disorder with a primary presentation of speech planning and programming disorder.\r\n\r\nCAS involves difficulty producing sequences of sounds with accuracy and correct prosody, resulting in poor speech intelligibility. Individuals with CAS typically have very delayed development of first spoken words. Other common co-occurring features may include fine and gross motor impairment, language impairment, learning difficulties, intellectual disability, autism and attention deficit hyperactivity disorder. Other associated features may include hypotonia, seizures, and facial dysmorphism/dysmorphology.\r\n \r\nPMID: 38366112 summarises three gene discovery cohort studies of individuals with CAS. Diagnostic yield ranged between 26-42%.\r\n\r\nThe aetiology of CAS is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia and Ataxia panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Angela Morgan, Michael Hildebrand, Thomas Scerri, David Amor and team for their contribution to the development of this panel.","status":"public","version":"1.28","version_created":"2026-03-06T16:38:48.591739+11:00","relevant_disorders":[],"stats":{"number_of_genes":35,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ21816","FANCN"],"biotype":"protein_coding","hgnc_id":"HGNC:26144","gene_name":"partner and localizer of BRCA2","omim_gene":["610355"],"alias_name":["Fanconi anemia, complementation group N"],"gene_symbol":"PALB2","hgnc_symbol":"PALB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:23614488-23652631","ensembl_id":"ENSG00000083093"}},"GRch38":{"90":{"location":"16:23603160-23641310","ensembl_id":"ENSG00000083093"}}},"hgnc_date_symbol_changed":"2007-01-15"},"entity_type":"gene","entity_name":"PALB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Malignant pancreatic neoplasm, MONDO:0009831","PALB2-related cancer predisposition, MONDO:0700272","Breast-ovarian cancer, familial, susceptibility to, 5, MIM#620442","Pancreatic cancer, susceptibility to, 3, MIM#613348"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4370,"hash_id":null,"name":"Pancreatic Cancer","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with pancreatic cancer. \r\n\r\nFurther information on the testing criteria for pancreatic cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3906-pancreatic-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with pancreatic cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.1","version_created":"2024-11-01T16:32:06.575750+11:00","relevant_disorders":[],"stats":{"number_of_genes":12,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RX"],"biotype":"protein_coding","hgnc_id":"HGNC:18662","gene_name":"retina and anterior neural fold homeobox","omim_gene":["601881"],"alias_name":null,"gene_symbol":"RAX","hgnc_symbol":"RAX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:56934267-56941318","ensembl_id":"ENSG00000134438"}},"GRch38":{"90":{"location":"18:59267035-59274086","ensembl_id":"ENSG00000134438"}}},"hgnc_date_symbol_changed":"2002-05-22"},"entity_type":"gene","entity_name":"RAX","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["30811539, 40321348"],"evidence":["Literature","Expert Review Amber","Expert Review Amber","Literature"],"phenotypes":["Microphthalmia, syndromic 16, MIM#611038"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4521,"hash_id":null,"name":"Hypogonadotropic hypogonadism","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.","status":"public","version":"0.115","version_created":"2026-04-12T14:11:38.693654+10:00","relevant_disorders":[],"stats":{"number_of_genes":84,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]}]}