{"count":36026,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=349","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=347","results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4878","gene_name":"hexosaminidase subunit alpha","omim_gene":["606869"],"alias_name":["Tay Sachs disease","GM2 gangliosidosis","beta-hexosaminidase subunit alpha"],"gene_symbol":"HEXA","hgnc_symbol":"HEXA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:72635775-72668817","ensembl_id":"ENSG00000213614"}},"GRch38":{"90":{"location":"15:72340919-72376476","ensembl_id":"ENSG00000213614"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HEXA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 33069254"],"evidence":["Expert Review Red","Literature"],"phenotypes":["GM2 Gangliosidosis","Tay-Sachs disease","Parkinsonism","OMIM 272800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":26,"hash_id":null,"name":"Early-onset Parkinson disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"2.51","version_created":"2026-03-30T11:47:22.375379+11:00","relevant_disorders":["Abnormality of extrapyramidal motor function","HP:0002071"],"stats":{"number_of_genes":129,"number_of_strs":14,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Genesis","HFH2"],"biotype":"protein_coding","hgnc_id":"HGNC:3804","gene_name":"forkhead box D3","omim_gene":["611539"],"alias_name":null,"gene_symbol":"FOXD3","hgnc_symbol":"FOXD3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:63788730-63790797","ensembl_id":"ENSG00000187140"}},"GRch38":{"90":{"location":"1:63323041-63325126","ensembl_id":"ENSG00000187140"}}},"hgnc_date_symbol_changed":"1999-12-22"},"entity_type":"gene","entity_name":"FOXD3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Red","ClinGen"],"phenotypes":["Aniridia, MONDO:0019172"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"panel":{"id":43,"hash_id":null,"name":"Eye Anterior Segment Abnormalities","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nAnterior segment dysgeneses are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. Clinical features include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface.\r\n\r\nAnterior segment dysgenesis can occur in isolation or as part of a more complex eye malformation or syndromic disorder. Also consider applying the Anophthalmia_Microphthalmia_Coloboma and Cataracts panels as indicated.","status":"public","version":"1.20","version_created":"2026-02-21T14:46:08.710773+11:00","relevant_disorders":["Abnormal anterior eye segment morphology","HP:0004328"],"stats":{"number_of_genes":29,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HSRNASPH","ACO","prostinogen"],"biotype":"protein_coding","hgnc_id":"HGNC:20453","gene_name":"kallikrein related peptidase 15","omim_gene":["610601"],"alias_name":null,"gene_symbol":"KLK15","hgnc_symbol":"KLK15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:51328545-51340469","ensembl_id":"ENSG00000174562"}},"GRch38":{"90":{"location":"19:50825289-50837213","ensembl_id":"ENSG00000174562"}}},"hgnc_date_symbol_changed":"2004-04-20"},"entity_type":"gene","entity_name":"KLK15","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40949095"],"evidence":["Expert Review Red","Other"],"phenotypes":["hypermobile Ehlers-Danlos syndrome MONDO:0007523"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":44,"hash_id":null,"name":"Aortopathy_Connective Tissue Disorders","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt contains genes that cause isolated thoracic aortic aneurysm; connective tissue disorders, including Ehlers Danlos syndromes and cutis laxa; and other syndromic/multi-system disorders where connective tissue involvement is prominent.\r\n\r\nThis panel incorporates assessments from the ClinGen Familial Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel (PMID: 30071989) and the  \r\nThe 2017 international classification of the Ehlers-Danlos syndromes (PMID: 28306229).\r\n\r\nThe panel has been compared against the Genomics England PanelApp 'Thoracic Aortic Aneurysm and Dissection' and 'Ehlers Danlos syndrome' panels, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England.\r\n\r\nFurther comparison and consolidation undertaken against the Genomics England/GMS 'Thoracic aortic aneurysm and dissection' panel V4.0 in July 2025.","status":"public","version":"1.105","version_created":"2026-02-05T18:09:24.690760+11:00","relevant_disorders":["Aortic aneurysm","HP:0004942;Joint dislocation","HP:0001373;Cutis laxa","HP:0000973; Ectopia lentis","HP:0001083;Arachnodactyly","HP:0001166"],"stats":{"number_of_genes":100,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FAAP250"],"biotype":"protein_coding","hgnc_id":"HGNC:23168","gene_name":"Fanconi anemia complementation group M","omim_gene":["609644"],"alias_name":null,"gene_symbol":"FANCM","hgnc_symbol":"FANCM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:45605143-45670093","ensembl_id":"ENSG00000187790"}},"GRch38":{"90":{"location":"14:45135940-45200890","ensembl_id":"ENSG00000187790"}}},"hgnc_date_symbol_changed":"2005-09-01"},"entity_type":"gene","entity_name":"FANCM","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["28837162"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anaemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["refuted"],"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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1033","gene_name":"brain derived neurotrophic factor","omim_gene":["113505"],"alias_name":["neurotrophin"],"gene_symbol":"BDNF","hgnc_symbol":"BDNF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:27676440-27743605","ensembl_id":"ENSG00000176697"}},"GRch38":{"90":{"location":"11:27654893-27722058","ensembl_id":"ENSG00000176697"}}},"hgnc_date_symbol_changed":"1991-01-15"},"entity_type":"gene","entity_name":"BDNF","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Central hypoventilation syndrome, congenital, MIM#209880"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["refuted"],"panel":{"id":71,"hash_id":null,"name":"Central Hypoventilation","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS.\r\n\r\nMore than 90% of individuals with congenital central hypoventilation syndrome have variants in the PHOX2B gene, most commonly an expansion of the polyalanine tract, which may not be tractable by all NGS assays.","status":"public","version":"1.7","version_created":"2026-01-04T18:41:11.422790+11:00","relevant_disorders":["Central hypoventilation HP:0007110"],"stats":{"number_of_genes":12,"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":["JM1"],"biotype":"protein_coding","hgnc_id":"HGNC:28909","gene_name":"coiled-coil domain containing 22","omim_gene":["300859"],"alias_name":null,"gene_symbol":"CCDC22","hgnc_symbol":"CCDC22","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:49091927-49106987","ensembl_id":"ENSG00000101997"}},"GRch38":{"90":{"location":"X:49235467-49250526","ensembl_id":"ENSG00000101997"}}},"hgnc_date_symbol_changed":"2005-07-24"},"entity_type":"gene","entity_name":"CCDC22","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Ritscher-Schinzel syndrome 2, MIM#300963"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["DOM","WS4","WS2E"],"biotype":"protein_coding","hgnc_id":"HGNC:11190","gene_name":"SRY-box 10","omim_gene":["602229"],"alias_name":["dominant megacolon, mouse, human homolog of"],"gene_symbol":"SOX10","hgnc_symbol":"SOX10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:38366693-38383429","ensembl_id":"ENSG00000100146"}},"GRch38":{"90":{"location":"22:37970686-37987422","ensembl_id":"ENSG00000100146"}}},"hgnc_date_symbol_changed":"1998-01-22"},"entity_type":"gene","entity_name":"SOX10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247"],"evidence":["Expert Review Red","Literature"],"phenotypes":["PCWH syndrome, MIM#609136","Waardenburg syndrome, type 2E, with or without neurologic involvement, MIM#611584"],"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":["NFL","CMT1F","CMT2E","NF68","PPP1R110"],"biotype":null,"hgnc_id":"HGNC:7739","gene_name":"neurofilament light","omim_gene":["162280"],"alias_name":["protein phosphatase 1, regulatory subunit 110"],"gene_symbol":"NEFL","hgnc_symbol":"NEFL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:24808468-24814624","ensembl_id":"ENSG00000104725"}},"GRch38":{"90":{"location":"8:24950955-24957110","ensembl_id":"ENSG00000277586"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NEFL","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Red","Literature"],"phenotypes":["Charcot-Marie-Tooth disease, dominant intermediate G, MIM#617882"],"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":["ZFYVE3"],"biotype":"protein_coding","hgnc_id":"HGNC:3663","gene_name":"FYVE, RhoGEF and PH domain containing 1","omim_gene":["300546"],"alias_name":null,"gene_symbol":"FGD1","hgnc_symbol":"FGD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:54471887-54522599","ensembl_id":"ENSG00000102302"}},"GRch38":{"90":{"location":"X:54445454-54496166","ensembl_id":"ENSG00000102302"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"FGD1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247","PMID:33528536"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Aarskog-Scott syndrome","Intellectual developmental disorder, X-linked syndromic 16, MIM#305400"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["KIAA0172","KANK"],"biotype":"protein_coding","hgnc_id":"HGNC:19309","gene_name":"KN motif and ankyrin repeat domains 1","omim_gene":["607704"],"alias_name":null,"gene_symbol":"KANK1","hgnc_symbol":"KANK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:470291-746105","ensembl_id":"ENSG00000107104"}},"GRch38":{"90":{"location":"9:470291-746106","ensembl_id":"ENSG00000107104"}}},"hgnc_date_symbol_changed":"2008-01-29"},"entity_type":"gene","entity_name":"KANK1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29729439","30684669","16301218"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Cerebral palsy, spastic quadriplegic, 2, MIM#612900"],"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":["FEM-2","KIAA0015","POPX2","CaMKPase","CAMKP"],"biotype":"protein_coding","hgnc_id":"HGNC:19388","gene_name":"protein phosphatase, Mg2+/Mn2+ dependent 1F","omim_gene":null,"alias_name":["partner of PIX 2","Ca(2+)/calmodulin-dependent protein kinase phosphatase"],"gene_symbol":"PPM1F","hgnc_symbol":"PPM1F","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:22273793-22307209","ensembl_id":"ENSG00000100034"}},"GRch38":{"90":{"location":"22:21919420-21952837","ensembl_id":"ENSG00000100034"}}},"hgnc_date_symbol_changed":"2002-11-28"},"entity_type":"gene","entity_name":"PPM1F","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["30250217"],"evidence":["Expert Review Red","Literature"],"phenotypes":["sclerosing cholangitis","short stature","hypothyroidism","abnormal tongue pigmentatio"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":78,"hash_id":null,"name":"Cholestasis","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS.\r\n\r\nIt includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause cholestasis.\r\n\r\nPlease also consider using the Liver Failure_Paediatric panel if clinically indicated.\r\n\r\nThe content of this panel has been compared against the Genomics England PanelApp 'Cholestasis' panel V1.21, with all discrepancies reviewed and resolved, and reciprocal feedback provided to Genomics England.","status":"public","version":"1.10","version_created":"2026-03-26T17:26:27.105917+11:00","relevant_disorders":["Cholestasis HP:0001396"],"stats":{"number_of_genes":99,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RPA40","RPA39","RPA5","RPAC1"],"biotype":"protein_coding","hgnc_id":"HGNC:20194","gene_name":"RNA polymerase I subunit C","omim_gene":["610060"],"alias_name":null,"gene_symbol":"POLR1C","hgnc_symbol":"POLR1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:43477440-43497323","ensembl_id":"ENSG00000171453"}},"GRch38":{"90":{"location":"6:43509702-43529585","ensembl_id":"ENSG00000171453"}}},"hgnc_date_symbol_changed":"2003-04-01"},"entity_type":"gene","entity_name":"POLR1C","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["26151409","32042905","33005949","22855961"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Leukodystrophy, hypomyelinating, 11, OMIM#616494"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":99,"hash_id":null,"name":"Differences of Sex Development","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.47","version_created":"2026-04-06T10:50:25.990411+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":141,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DRC4"],"biotype":"protein_coding","hgnc_id":"HGNC:4166","gene_name":"growth arrest specific 8","omim_gene":["605178"],"alias_name":null,"gene_symbol":"GAS8","hgnc_symbol":"GAS8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:90086037-90111383","ensembl_id":"ENSG00000141013"}},"GRch38":{"90":{"location":"16:90019629-90044975","ensembl_id":"ENSG00000141013"}}},"hgnc_date_symbol_changed":"2003-01-17"},"entity_type":"gene","entity_name":"GAS8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 33, MIM# 616726"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":108,"hash_id":null,"name":"Heterotaxy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Laterality disorders and isomerism' panel V1.19, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.45","version_created":"2026-03-17T16:09:39.911604+11:00","relevant_disorders":["Heterotaxy","HP:0030853; Dextrocardia","HP:0001651; Asplenia","HP:0001746; Abnormal spatial orientation of cardiac segments","HP:0011534; Polysplenia","HP:0001748;Midline liver","HP:0034188"],"stats":{"number_of_genes":67,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["11200994"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Schneckenbecken dysplasia, MIM#\t269250"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0610","TAHCCP1"],"biotype":"protein_coding","hgnc_id":"HGNC:18514","gene_name":"spartin","omim_gene":["607111"],"alias_name":["spartin"],"gene_symbol":"SPART","hgnc_symbol":"SPART","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:36875775-36944317","ensembl_id":"ENSG00000133104"}},"GRch38":{"90":{"location":"13:36301638-36370180","ensembl_id":"ENSG00000133104"}}},"hgnc_date_symbol_changed":"2017-05-30"},"entity_type":"gene","entity_name":"SPART","confidence_level":"0","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":126,"hash_id":null,"name":"Incidentalome","disease_group":"","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC13061"],"biotype":"protein_coding","hgnc_id":"HGNC:21158","gene_name":"ring finger protein 135","omim_gene":["611358"],"alias_name":["riplet"],"gene_symbol":"RNF135","hgnc_symbol":"RNF135","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:29295803-29326929","ensembl_id":"ENSG00000181481"}},"GRch38":{"90":{"location":"17:30968785-30999911","ensembl_id":"ENSG00000181481"}}},"hgnc_date_symbol_changed":"2003-05-21"},"entity_type":"gene","entity_name":"RNF135","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FRZB-PEN","FRZB1","SRFP3","FRP-3","SFRP3","FRE","FRITZ","FRZB-1","FZRB","hFIZ"],"biotype":"protein_coding","hgnc_id":"HGNC:3959","gene_name":"frizzled related protein","omim_gene":["605083"],"alias_name":["secreted frizzled-related protein 3"],"gene_symbol":"FRZB","hgnc_symbol":"FRZB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:183698002-183731890","ensembl_id":"ENSG00000162998"}},"GRch38":{"90":{"location":"2:182833275-182867162","ensembl_id":"ENSG00000162998"}}},"hgnc_date_symbol_changed":"1998-07-15"},"entity_type":"gene","entity_name":"FRZB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["15210948"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{Osteoarthritis susceptibility 1} MIM#165720"],"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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"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":["LCAD","ACAD4"],"biotype":"protein_coding","hgnc_id":"HGNC:88","gene_name":"acyl-CoA dehydrogenase long chain","omim_gene":["609576"],"alias_name":null,"gene_symbol":"ACADL","hgnc_symbol":"ACADL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:211052663-211090215","ensembl_id":"ENSG00000115361"}},"GRch38":{"90":{"location":"2:210187939-210225491","ensembl_id":"ENSG00000115361"}}},"hgnc_date_symbol_changed":"1988-11-07"},"entity_type":"gene","entity_name":"ACADL","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24591516","31399326"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Long chain acyl-CoA dehydrogenase deficiency MONDO:0020531"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["disputed"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"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":["LAP"],"biotype":"protein_coding","hgnc_id":"HGNC:123","gene_name":"acid phosphatase 2, lysosomal","omim_gene":["171650"],"alias_name":["lysosomal acid phosphatase"],"gene_symbol":"ACP2","hgnc_symbol":"ACP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:47260853-47270457","ensembl_id":"ENSG00000134575"}},"GRch38":{"90":{"location":"11:47239302-47248906","ensembl_id":"ENSG00000134575"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ACP2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["5410815"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Lysosomal acid phosphatase deficiency, MIM# 200950"],"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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"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":["HIOMT","ASMTY","HIOMTY"],"biotype":"protein_coding","hgnc_id":"HGNC:750","gene_name":"acetylserotonin O-methyltransferase","omim_gene":["300015","402500"],"alias_name":null,"gene_symbol":"ASMT","hgnc_symbol":"ASMT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:1733894-1761974","ensembl_id":"ENSG00000196433"}},"GRch38":{"90":{"location":"X:1615001-1643081","ensembl_id":"ENSG00000196433"}}},"hgnc_date_symbol_changed":"1992-12-11"},"entity_type":"gene","entity_name":"ASMT","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21251267"],"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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"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":["Atp12p","ATP12","LP3663","MGC29736"],"biotype":"protein_coding","hgnc_id":"HGNC:18802","gene_name":"ATP synthase mitochondrial F1 complex assembly factor 2","omim_gene":["608918"],"alias_name":null,"gene_symbol":"ATPAF2","hgnc_symbol":"ATPAF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:17880723-17942523","ensembl_id":"ENSG00000171953"}},"GRch38":{"90":{"location":"17:17977409-18039209","ensembl_id":"ENSG00000171953"}}},"hgnc_date_symbol_changed":"2002-07-01"},"entity_type":"gene","entity_name":"ATPAF2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"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":["MG1"],"biotype":"protein_coding","hgnc_id":"HGNC:7516","gene_name":"mucin 5B, oligomeric mucus/gel-forming","omim_gene":["600770"],"alias_name":null,"gene_symbol":"MUC5B","hgnc_symbol":"MUC5B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:1244296-1283406","ensembl_id":"ENSG00000117983"}},"GRch38":{"90":{"location":"11:1223066-1262172","ensembl_id":"ENSG00000117983"}}},"hgnc_date_symbol_changed":"1991-12-03"},"entity_type":"gene","entity_name":"MUC5B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21506741","21506748"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{Pulmonary fibrosis, idiopathic, susceptibility to}, MIM# 178500"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["5'UTR"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"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":["MG53"],"biotype":"protein_coding","hgnc_id":"HGNC:32671","gene_name":"tripartite motif containing 72","omim_gene":["613288"],"alias_name":["mitsugumin 53"],"gene_symbol":"TRIM72","hgnc_symbol":"TRIM72","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:31225342-31236510","ensembl_id":"ENSG00000177238"}},"GRch38":{"90":{"location":"16:31214021-31231537","ensembl_id":"ENSG00000177238"}}},"hgnc_date_symbol_changed":"2006-03-30"},"entity_type":"gene","entity_name":"TRIM72","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40804694"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Limb girdle muscular dystrophy MONDO:0016971, TRIM72-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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"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":["GAT","ACGNAT"],"biotype":"protein_coding","hgnc_id":"HGNC:13734","gene_name":"glycine-N-acyltransferase","omim_gene":["607424"],"alias_name":null,"gene_symbol":"GLYAT","hgnc_symbol":"GLYAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:58407899-58499447","ensembl_id":"ENSG00000149124"}},"GRch38":{"90":{"location":"11:58640426-58731974","ensembl_id":"ENSG00000149124"}}},"hgnc_date_symbol_changed":"2001-05-04"},"entity_type":"gene","entity_name":"GLYAT","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40747359"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, GLYAT-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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"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":["RhoGAP5","p190-B","p190BRhoGAP"],"biotype":"protein_coding","hgnc_id":"HGNC:675","gene_name":"Rho GTPase activating protein 5","omim_gene":["602680"],"alias_name":null,"gene_symbol":"ARHGAP5","hgnc_symbol":"ARHGAP5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:32545320-32628934","ensembl_id":"ENSG00000100852"}},"GRch38":{"90":{"location":"14:32076114-32159728","ensembl_id":"ENSG00000100852"}}},"hgnc_date_symbol_changed":"1997-08-28"},"entity_type":"gene","entity_name":"ARHGAP5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["39308770","36178483"],"evidence":["Literature","Expert Review Red","Expert Review Red","Literature"],"phenotypes":["Kallmann syndrome MONDO:0018800"],"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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"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":["MET18","hMMS19"],"biotype":"protein_coding","hgnc_id":"HGNC:13824","gene_name":"MMS19 homolog, cytosolic iron-sulfur assembly component","omim_gene":["614777"],"alias_name":["MET18 homolog (S. cerevisiae)"],"gene_symbol":"MMS19","hgnc_symbol":"MMS19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:99218081-99258551","ensembl_id":"ENSG00000155229"}},"GRch38":{"90":{"location":"10:97458324-97498794","ensembl_id":"ENSG00000155229"}}},"hgnc_date_symbol_changed":"2007-08-15"},"entity_type":"gene","entity_name":"MMS19","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["38411040"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodegenerative disease, MONDO:0005559, MMS19-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["B3GN-T4","beta3Gn-T4"],"biotype":"protein_coding","hgnc_id":"HGNC:15683","gene_name":"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4","omim_gene":["605864"],"alias_name":null,"gene_symbol":"B3GNT4","hgnc_symbol":"B3GNT4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:122688090-122693499","ensembl_id":"ENSG00000176383"}},"GRch38":{"90":{"location":"12:122203543-122208952","ensembl_id":"ENSG00000176383"}}},"hgnc_date_symbol_changed":"2001-05-14"},"entity_type":"gene","entity_name":"B3GNT4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["41444428"],"evidence":["Literature","Literature"],"phenotypes":["Hereditary neurological disease, MONDO:0100545, B3GNT4-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"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":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40621786","7577667","40385417"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":150,"hash_id":null,"name":"Osteopetrosis","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel contains genes associated with osteopetrosis, a group of hereditary metabolic bone diseases, all of which detrimentally affect bone growth and remodelling leading to generalized osteosclerosis.\r\n\r\nThe panel includes skeletal dysplasias and syndromic disorders associated with bone sclerosis that can overlap with the clinical presentation of classical osteopetrosis.\r\n\r\nThis panel was developed and is maintained by VCGS. It has been compared against the Genomics England PanelApp 'osteopetrosis' panel V1.35, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nUpdated following literature review December 2025.","status":"public","version":"1.0","version_created":"2025-12-22T12:45:57.007049+11:00","relevant_disorders":["Increased bone mineral density","HP:0011001"],"stats":{"number_of_genes":37,"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":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["BCNS"],"biotype":"protein_coding","hgnc_id":"HGNC:9585","gene_name":"patched 1","omim_gene":["601309"],"alias_name":null,"gene_symbol":"PTCH1","hgnc_symbol":"PTCH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:98205262-98279339","ensembl_id":"ENSG00000185920"}},"GRch38":{"90":{"location":"9:95442980-95517057","ensembl_id":"ENSG00000185920"}}},"hgnc_date_symbol_changed":"2006-09-26"},"entity_type":"gene","entity_name":"PTCH1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Basal cell nevus syndrome, MIM# 109400"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":151,"hash_id":null,"name":"Overgrowth","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 generalised overgrowth of prenatal or postnatal onset. Generalised overgrowth is characterised by a relatively proportionate increase in stature (length or height) and/or head circumference at least two standard deviations above the mean compared to the age‐related peer group. This panel does not contain genes causing segmental overgrowth.\r\n\r\nChromosomal testing/methylation studies are recommended prior to sequencing for the diagnosis of Beckwith-Wiedemann syndrome.\r\n\r\nPlease also refer to the Macrocephaly panel if head growth is primarily or disproportionately affected.","status":"public","version":"1.21","version_created":"2026-04-01T17:27:51.801810+11:00","relevant_disorders":["Overgrowth","HP:0001548; Tall stature","HP:0000098; Increased body weight","HP:0004324"],"stats":{"number_of_genes":31,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["OIP2","RRP43","bA421P11.3","Rrp43p","EAP2","p9","CIP3"],"biotype":"protein_coding","hgnc_id":"HGNC:17035","gene_name":"exosome component 8","omim_gene":["606019"],"alias_name":["CBP-interacting protein 3","Opa interacting protein 2"],"gene_symbol":"EXOSC8","hgnc_symbol":"EXOSC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:37572953-37583750","ensembl_id":"ENSG00000120699"}},"GRch38":{"90":{"location":"13:36998816-37009613","ensembl_id":"ENSG00000120699"}}},"hgnc_date_symbol_changed":"2004-03-26"},"entity_type":"gene","entity_name":"EXOSC8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["24989451","29656927","34210538"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Pontocerebellar hypoplasia, type 1C, MIM#616081"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["nexilin","NELIN"],"biotype":"protein_coding","hgnc_id":"HGNC:29557","gene_name":"nexilin F-actin binding protein","omim_gene":["613121"],"alias_name":null,"gene_symbol":"NEXN","hgnc_symbol":"NEXN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:78354198-78409580","ensembl_id":"ENSG00000162614"}},"GRch38":{"90":{"location":"1:77888513-77943895","ensembl_id":"ENSG00000162614"}}},"hgnc_date_symbol_changed":"2004-01-09"},"entity_type":"gene","entity_name":"NEXN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["33947203","33949776","35166435","32058062"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Lethal fetal cardiomyopathy","Hydrops fetalis","Cardiomyopathy, dilated 1CC - MIM#613122"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Atp12p","ATP12","LP3663","MGC29736"],"biotype":"protein_coding","hgnc_id":"HGNC:18802","gene_name":"ATP synthase mitochondrial F1 complex assembly factor 2","omim_gene":["608918"],"alias_name":null,"gene_symbol":"ATPAF2","hgnc_symbol":"ATPAF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:17880723-17942523","ensembl_id":"ENSG00000171953"}},"GRch38":{"90":{"location":"17:17977409-18039209","ensembl_id":"ENSG00000171953"}}},"hgnc_date_symbol_changed":"2002-07-01"},"entity_type":"gene","entity_name":"ATPAF2","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":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:14906","gene_name":"ninein","omim_gene":["608684"],"alias_name":null,"gene_symbol":"NIN","hgnc_symbol":"NIN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:51186481-51297839","ensembl_id":"ENSG00000100503"}},"GRch38":{"90":{"location":"14:50719763-50831121","ensembl_id":"ENSG00000100503"}}},"hgnc_date_symbol_changed":"2001-03-15"},"entity_type":"gene","entity_name":"NIN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22933543"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Seckel syndrome 7, MIM#614851"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PACT","RAX","HSD14","DYT16"],"biotype":"protein_coding","hgnc_id":"HGNC:9438","gene_name":"protein activator of interferon induced protein 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This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.202","version_created":"2026-04-02T15:02:17.166617+11:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"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":["FATP3","MGC4365","ACSVL3"],"biotype":"protein_coding","hgnc_id":"HGNC:10997","gene_name":"solute carrier family 27 member 3","omim_gene":["604193"],"alias_name":null,"gene_symbol":"SLC27A3","hgnc_symbol":"SLC27A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:153746830-153752633","ensembl_id":"ENSG00000143554"}},"GRch38":{"90":{"location":"1:153774354-153780157","ensembl_id":"ENSG00000143554"}}},"hgnc_date_symbol_changed":"1999-08-20"},"entity_type":"gene","entity_name":"SLC27A3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 41054338"],"evidence":["Expert Review Red","Literature","Literature"],"phenotypes":["Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"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":"1.202","version_created":"2026-04-02T15:02:17.166617+11:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"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":["RP30","RFSN"],"biotype":"protein_coding","hgnc_id":"HGNC:3960","gene_name":"fascin actin-bundling protein 2, retinal","omim_gene":["607643"],"alias_name":null,"gene_symbol":"FSCN2","hgnc_symbol":"FSCN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:79495422-79504156","ensembl_id":"ENSG00000186765"}},"GRch38":{"90":{"location":"17:81528396-81537130","ensembl_id":"ENSG00000186765"}}},"hgnc_date_symbol_changed":"2000-02-29"},"entity_type":"gene","entity_name":"FSCN2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["16043865","18450588"],"evidence":["Royal Melbourne Hospital","Royal Melbourne Hospital","Expert Review Red","Royal Melbourne Hospital","Royal Melbourne Hospital"],"phenotypes":["Retinitis pigmentosa 30 MIM#607921","Macular degeneration"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["PCLP","Gp200","PC"],"biotype":"protein_coding","hgnc_id":"HGNC:9171","gene_name":"podocalyxin like","omim_gene":["602632"],"alias_name":null,"gene_symbol":"PODXL","hgnc_symbol":"PODXL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:131185021-131242976","ensembl_id":"ENSG00000128567"}},"GRch38":{"90":{"location":"7:131500262-131558217","ensembl_id":"ENSG00000128567"}}},"hgnc_date_symbol_changed":"1997-07-11"},"entity_type":"gene","entity_name":"PODXL","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["26864383"],"evidence":["Expert list","Expert Review Red","Expert list"],"phenotypes":["juvenile-onset Parkinson disease"],"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":[]},{"gene_data":{"alias":["KBF1","p105","NFKB-p50","p50","NF-kappaB","NFkappaB","NF-kB1"],"biotype":"protein_coding","hgnc_id":"HGNC:7794","gene_name":"nuclear factor kappa B subunit 1","omim_gene":["164011"],"alias_name":null,"gene_symbol":"NFKB1","hgnc_symbol":"NFKB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:103422486-103538459","ensembl_id":"ENSG00000109320"}},"GRch38":{"90":{"location":"4:102501329-102617302","ensembl_id":"ENSG00000109320"}}},"hgnc_date_symbol_changed":"1991-11-14"},"entity_type":"gene","entity_name":"NFKB1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["26279205","32278790","27022143","7834752"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency, common variable, 12 MIM# 616576","Normal-low IgG, IgA, IgM","low-normal B cells","low switched memory B cells","hypogammaglobulinaemia","recurrent respiratory and gastrointestinal infections","Chronic obstructive pulmonary disease COPD","EBV proliferation","autoimmunity","alopecia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3093,"hash_id":null,"name":"Monogenic Diabetes","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).","status":"public","version":"0.222","version_created":"2026-04-01T16:48:42.206624+11:00","relevant_disorders":["Diabetes mellitus","HP:0000819"],"stats":{"number_of_genes":109,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TM7LN4","TM7XN1"],"biotype":"protein_coding","hgnc_id":"HGNC:4512","gene_name":"adhesion G protein-coupled receptor G1","omim_gene":["604110"],"alias_name":null,"gene_symbol":"ADGRG1","hgnc_symbol":"ADGRG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:57644564-57698944","ensembl_id":"ENSG00000205336"}},"GRch38":{"90":{"location":"16:57610652-57665580","ensembl_id":"ENSG00000205336"}}},"hgnc_date_symbol_changed":"2015-03-03"},"entity_type":"gene","entity_name":"ADGRG1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert Review Green","Genomics England PanelApp","Expert list","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["bilateral frontoparietal polymicrogyria MONDO:0011738"],"mode_of_inheritance":"","tags":[],"panel":{"id":3144,"hash_id":null,"name":"Cerebral vascular malformations","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes associated with cerebral vascular malformations, including:\r\nVein of Galen malformation\r\nCerebral vascular malformations\r\nMoyamoya disease\r\n\r\nConsider applying the Stroke and Aortopathy_Connective Tissue Disorders panels due to overlap in clinical features.\r\nWith thanks to the Genomics England PanelApp team for the original design.","status":"public","version":"1.12","version_created":"2026-01-22T10:52:30.127872+11:00","relevant_disorders":["Abnormal cerebral vascular morphology HP:0100659"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HPR6.6"],"biotype":"protein_coding","hgnc_id":"HGNC:16090","gene_name":"progesterone receptor membrane component 1","omim_gene":["300435"],"alias_name":null,"gene_symbol":"PGRMC1","hgnc_symbol":"PGRMC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:118370216-118378429","ensembl_id":"ENSG00000101856"}},"GRch38":{"90":{"location":"X:119236245-119244466","ensembl_id":"ENSG00000101856"}}},"hgnc_date_symbol_changed":"2001-07-25"},"entity_type":"gene","entity_name":"PGRMC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["25246111","18782852"],"evidence":["Expert Review Red","Genetic Health QLD"],"phenotypes":["Premature ovarian failure"],"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":"0.410","version_created":"2026-04-06T10:52:55.877866+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":["FLJ22169"],"biotype":"protein_coding","hgnc_id":"HGNC:22408","gene_name":"autophagy related 9A","omim_gene":["612204"],"alias_name":null,"gene_symbol":"ATG9A","hgnc_symbol":"ATG9A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:220074494-220094439","ensembl_id":"ENSG00000198925"}},"GRch38":{"90":{"location":"2:219209772-219229717","ensembl_id":"ENSG00000198925"}}},"hgnc_date_symbol_changed":"2005-09-11"},"entity_type":"gene","entity_name":"ATG9A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["34794894","30224786"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Primary ovarian insufficiency"],"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":"0.410","version_created":"2026-04-06T10:52:55.877866+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":["PLZF"],"biotype":"protein_coding","hgnc_id":"HGNC:12930","gene_name":"zinc finger and BTB domain containing 16","omim_gene":["176797"],"alias_name":["promyelocytic leukaemia zinc finger"],"gene_symbol":"ZBTB16","hgnc_symbol":"ZBTB16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:113930315-114121398","ensembl_id":"ENSG00000109906"}},"GRch38":{"90":{"location":"11:114059593-114250676","ensembl_id":"ENSG00000109906"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"ZBTB16","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","NSW Health Pathology"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3437,"hash_id":null,"name":"Incidentalome_PREGEN_DRAFT","disease_group":"","disease_sub_group":"","description":"Imported to facilitate update work. Do not use while labeled as DRAFT","status":"public","version":"0.43","version_created":"2021-01-20T16:42:09.286633+11:00","relevant_disorders":[],"stats":{"number_of_genes":173,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1744","gene_name":"cell division cycle 6","omim_gene":["602627"],"alias_name":null,"gene_symbol":"CDC6","hgnc_symbol":"CDC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:38443885-38459171","ensembl_id":"ENSG00000094804"}},"GRch38":{"90":{"location":"17:40287633-40304657","ensembl_id":"ENSG00000094804"}}},"hgnc_date_symbol_changed":"1999-08-06"},"entity_type":"gene","entity_name":"CDC6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21358632"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Meier-Gorlin syndrome 5 (MIM#613805)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BMP13","KFS","KFS1"],"biotype":"protein_coding","hgnc_id":"HGNC:4221","gene_name":"growth differentiation factor 6","omim_gene":["601147"],"alias_name":null,"gene_symbol":"GDF6","hgnc_symbol":"GDF6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:97154562-97173020","ensembl_id":"ENSG00000156466"}},"GRch38":{"90":{"location":"8:96142330-96160792","ensembl_id":"ENSG00000156466"}}},"hgnc_date_symbol_changed":"1999-04-23"},"entity_type":"gene","entity_name":"GDF6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23307924"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Leber congenital amaurosis 17, MIM# 615360"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3762,"hash_id":null,"name":"Congenital nystagmus","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with isolated or syndromic nystagmus presenting in infancy or early childhood.","status":"public","version":"1.24","version_created":"2026-01-26T13:26:36.043723+11:00","relevant_disorders":["Nystagmus HP:0000639"],"stats":{"number_of_genes":84,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CSNB3","rd1","RP40","CSNBAD2"],"biotype":"protein_coding","hgnc_id":"HGNC:8786","gene_name":"phosphodiesterase 6B","omim_gene":["180072"],"alias_name":["congenital stationary night blindness 3, autosomal dominant"],"gene_symbol":"PDE6B","hgnc_symbol":"PDE6B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:619373-664571","ensembl_id":"ENSG00000133256"}},"GRch38":{"90":{"location":"4:625584-670782","ensembl_id":"ENSG00000133256"}}},"hgnc_date_symbol_changed":"1991-01-15"},"entity_type":"gene","entity_name":"PDE6B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["17044014","24760071","8075643"],"evidence":["Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Night blindness, congenital stationary, autosomal dominant 2, 163500","Retinitis pigmentosa"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3762,"hash_id":null,"name":"Congenital nystagmus","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with isolated or syndromic nystagmus presenting in infancy or early childhood.","status":"public","version":"1.24","version_created":"2026-01-26T13:26:36.043723+11:00","relevant_disorders":["Nystagmus HP:0000639"],"stats":{"number_of_genes":84,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20343","MGC19520"],"biotype":"protein_coding","hgnc_id":"HGNC:26006","gene_name":"tetratricopeptide repeat domain 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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":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"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."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11006","gene_name":"solute carrier family 2 member 2","omim_gene":["138160"],"alias_name":null,"gene_symbol":"SLC2A2","hgnc_symbol":"SLC2A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:170714137-170744539","ensembl_id":"ENSG00000163581"}},"GRch38":{"90":{"location":"3:170996348-171026750","ensembl_id":"ENSG00000163581"}}},"hgnc_date_symbol_changed":"1989-01-13"},"entity_type":"gene","entity_name":"SLC2A2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Fanconi-Bickel syndrome, MIM# 227810"],"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":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"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."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DD","BABP","DD2","HAKRD","MCDR2"],"biotype":"protein_coding","hgnc_id":"HGNC:385","gene_name":"aldo-keto reductase family 1 member C2","omim_gene":["600450"],"alias_name":["dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III"],"gene_symbol":"AKR1C2","hgnc_symbol":"AKR1C2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:5029967-5060223","ensembl_id":"ENSG00000151632"}},"GRch38":{"90":{"location":"10:4987400-5018031","ensembl_id":"ENSG00000151632"}}},"hgnc_date_symbol_changed":"1994-09-14"},"entity_type":"gene","entity_name":"AKR1C2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["33675863","25322899"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Obesity"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3764,"hash_id":null,"name":"Severe early-onset obesity","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with syndromic and non-syndromic causes of severe, early-onset obesity (weight >3 standard deviations above the mean, with onset before the age of 5 years).\r\n\r\nIf other growth parameters are affected, please consider the Overgrowth and the Macrocephaly_Megalencephaly panels.","status":"public","version":"1.30","version_created":"2026-03-18T15:16:42.995334+11:00","relevant_disorders":["Obesity","HP:0001513"],"stats":{"number_of_genes":59,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PNR","rd7","RP37"],"biotype":null,"hgnc_id":"HGNC:7974","gene_name":"nuclear receptor subfamily 2 group E member 3","omim_gene":["604485"],"alias_name":null,"gene_symbol":"NR2E3","hgnc_symbol":"NR2E3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:72084977-72110600","ensembl_id":"ENSG00000031544"}},"GRch38":{"90":{"location":"15:71792638-71818259","ensembl_id":"ENSG00000278570"}}},"hgnc_date_symbol_changed":"1999-09-16"},"entity_type":"gene","entity_name":"NR2E3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["32679203","33138239","19139342","26910043"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Enhanced S-cone syndrome (MIM#268100)","Retinitis pigmentosa 37 (MIM#611131)"],"mode_of_inheritance":"BOTH monoallelic and 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:4806","gene_name":"histidine ammonia-lyase","omim_gene":["609457"],"alias_name":null,"gene_symbol":"HAL","hgnc_symbol":"HAL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:96366440-96390143","ensembl_id":"ENSG00000084110"}},"GRch38":{"90":{"location":"12:95972662-95996365","ensembl_id":"ENSG00000084110"}}},"hgnc_date_symbol_changed":"1988-08-31"},"entity_type":"gene","entity_name":"HAL","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["15806399"],"evidence":["Expert Review Red","ClinGen"],"phenotypes":["histidinemia MONDO:0009345"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD117","SCFR","C-Kit"],"biotype":"protein_coding","hgnc_id":"HGNC:6342","gene_name":"KIT proto-oncogene receptor tyrosine kinase","omim_gene":["164920"],"alias_name":null,"gene_symbol":"KIT","hgnc_symbol":"KIT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:55524085-55606881","ensembl_id":"ENSG00000157404"}},"GRch38":{"90":{"location":"4:54657918-54740715","ensembl_id":"ENSG00000157404"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"KIT","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Piebaldism, MIM# 172800 Gastrointestinal stromal tumor, familial, MIM# 606764"],"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":["NPHS5"],"biotype":"protein_coding","hgnc_id":"HGNC:6487","gene_name":"laminin subunit beta 2","omim_gene":["150325"],"alias_name":["laminin S"],"gene_symbol":"LAMB2","hgnc_symbol":"LAMB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:49158547-49170551","ensembl_id":"ENSG00000172037"}},"GRch38":{"90":{"location":"3:49121114-49133118","ensembl_id":"ENSG00000172037"}}},"hgnc_date_symbol_changed":"1992-05-06"},"entity_type":"gene","entity_name":"LAMB2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199","Pierson syndrome, MIM# 609049"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["THRB1","THRB2","NR1A2","THR1","ERBA-BETA","GRTH"],"biotype":"protein_coding","hgnc_id":"HGNC:11799","gene_name":"thyroid hormone receptor beta","omim_gene":["190160"],"alias_name":["avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2","oncogene ERBA2","generalized resistance to thyroid hormone","thyroid hormone receptor beta 1"],"gene_symbol":"THRB","hgnc_symbol":"THRB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:24158651-24536773","ensembl_id":"ENSG00000151090"}},"GRch38":{"90":{"location":"3:24117160-24495282","ensembl_id":"ENSG00000151090"}}},"hgnc_date_symbol_changed":"1988-08-31"},"entity_type":"gene","entity_name":"THRB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Thyroid hormone resistance, MIM# 188570","Thyroid hormone resistance, autosomal recessive, MIM# 274300","Thyroid hormone resistance, selective pituitary, MIM# 145650"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MiRP1","LQT6"],"biotype":"protein_coding","hgnc_id":"HGNC:6242","gene_name":"potassium voltage-gated channel subfamily E regulatory subunit 2","omim_gene":["603796"],"alias_name":null,"gene_symbol":"KCNE2","hgnc_symbol":"KCNE2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:35736323-35743688","ensembl_id":"ENSG00000159197"}},"GRch38":{"90":{"location":"21:34364024-34371389","ensembl_id":"ENSG00000159197"}}},"hgnc_date_symbol_changed":"1999-05-11"},"entity_type":"gene","entity_name":"KCNE2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category B gene"],"phenotypes":["Long QT syndrome 6, MIM# 613693"],"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":["OFC6","VWS1"],"biotype":"protein_coding","hgnc_id":"HGNC:6121","gene_name":"interferon regulatory factor 6","omim_gene":["607199"],"alias_name":null,"gene_symbol":"IRF6","hgnc_symbol":"IRF6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:209959036-209979465","ensembl_id":"ENSG00000117595"}},"GRch38":{"90":{"location":"1:209785623-209806175","ensembl_id":"ENSG00000117595"}}},"hgnc_date_symbol_changed":"1997-10-16"},"entity_type":"gene","entity_name":"IRF6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene","BabySeq Category A gene"],"phenotypes":["Popliteal pterygium syndrome 1MIM#119500","van der Woude syndrome MIM#119300"],"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":["PKND"],"biotype":"protein_coding","hgnc_id":"HGNC:2536","gene_name":"cathepsin K","omim_gene":["601105"],"alias_name":null,"gene_symbol":"CTSK","hgnc_symbol":"CTSK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:150768684-150780799","ensembl_id":"ENSG00000143387"}},"GRch38":{"90":{"location":"1:150796208-150808323","ensembl_id":"ENSG00000143387"}}},"hgnc_date_symbol_changed":"1995-05-11"},"entity_type":"gene","entity_name":"CTSK","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Pycnodysostosis - MIM#265800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["REP-1"],"biotype":"protein_coding","hgnc_id":"HGNC:1940","gene_name":"CHM, Rab escort protein 1","omim_gene":["300390"],"alias_name":null,"gene_symbol":"CHM","hgnc_symbol":"CHM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:85116185-85302566","ensembl_id":"ENSG00000188419"}},"GRch38":{"90":{"location":"X:85861180-86047562","ensembl_id":"ENSG00000188419"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CHM","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Choroideraemia MIM#303100"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["FLJ20527"],"biotype":"protein_coding","hgnc_id":"HGNC:26047","gene_name":"cancer/testis antigen 55","omim_gene":null,"alias_name":null,"gene_symbol":"CT55","hgnc_symbol":"CT55","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:134290461-134305322","ensembl_id":"ENSG00000169551"}},"GRch38":{"90":{"location":"X:135156536-135171398","ensembl_id":"ENSG00000169551"}}},"hgnc_date_symbol_changed":"2013-12-10"},"entity_type":"gene","entity_name":"CT55","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["36481789"],"evidence":["Literature","Literature"],"phenotypes":["Spermatogenic failure MONDO:0004983"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ12571","dyf-13","DYF13","IFT56"],"biotype":"protein_coding","hgnc_id":"HGNC:21882","gene_name":"tetratricopeptide repeat domain 26","omim_gene":["617453"],"alias_name":null,"gene_symbol":"TTC26","hgnc_symbol":"TTC26","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:138818490-138876732","ensembl_id":"ENSG00000105948"}},"GRch38":{"90":{"location":"7:139133744-139191986","ensembl_id":"ENSG00000105948"}}},"hgnc_date_symbol_changed":"2006-03-17"},"entity_type":"gene","entity_name":"TTC26","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["32617964"],"evidence":["Expert Review Red","Literature"],"phenotypes":["biliary, renal, neurologic, and skeletal syndrome, MONDO:0859191"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4521,"hash_id":null,"name":"Hypogonadotropic hypogonadism","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.","status":"public","version":"0.111","version_created":"2026-04-04T15:37:44.052003+11:00","relevant_disorders":[],"stats":{"number_of_genes":83,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37493-Loss","verbose_name":"1q43q44 microdeletion syndrome","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":"3","triplosensitivity_score":null,"required_overlap_percentage":80,"type_of_variants":"cnv_loss","publications":["28283832","31929334","31830750","30853971"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["1q43q44 microdeletion syndrome","intellectual disability","seizures","microcephaly","corpus callosum abnormalities"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"1","grch37_coordinates":null,"grch38_coordinates":[243124428,245154985],"tags":["SV/CNV"],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37423-Gain","verbose_name":"8p23.1 duplication syndrome","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":null,"triplosensitivity_score":"3","required_overlap_percentage":80,"type_of_variants":"cnv_gain","publications":["26097203","25520754"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["8p23.1 duplication syndrome","intellectual disability","congenital heart disease"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"8","grch37_coordinates":null,"grch38_coordinates":[8261773,11908210],"tags":["SV/CNV"],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37425-Gain","verbose_name":"Chromosome 5q35 duplication syndrome","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":null,"triplosensitivity_score":"3","required_overlap_percentage":80,"type_of_variants":"cnv_gain","publications":["24819041"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Chromosome 5q35 duplication syndrome","microcephaly","failure to thrive","seizures"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"5","grch37_coordinates":null,"grch38_coordinates":[176301975,177586960],"tags":["SV/CNV"],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37486-Loss","verbose_name":"Chromosome 16p11.2 deletion syndrome","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":"3","triplosensitivity_score":null,"required_overlap_percentage":80,"type_of_variants":"cnv_loss","publications":["19914906","32993859","32732550","32597026","32537635"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Chromosome 16p11.2 deletion syndrome, MIM#611913, distal BP2-BP3","intellectual disability","autism","obesity"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"16","grch37_coordinates":null,"grch38_coordinates":[28811313,29035181],"tags":["SV/CNV"],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37442-Gain","verbose_name":"Chromosome 6q24-related transient diabetes mellitus, neonatal","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":null,"triplosensitivity_score":"3","required_overlap_percentage":80,"type_of_variants":"cnv_gain","publications":["8842729"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Diabetes mellitus, transient neonatal 1, MIM#\t601410"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","chromosome":"6","grch37_coordinates":null,"grch38_coordinates":[143922155,144095424],"tags":["SV/CNV"],"panel":{"id":3093,"hash_id":null,"name":"Monogenic Diabetes","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).","status":"public","version":"0.222","version_created":"2026-04-01T16:48:42.206624+11:00","relevant_disorders":["Diabetes mellitus","HP:0000819"],"stats":{"number_of_genes":109,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37446-Loss","verbose_name":"Chromosome 22q11.2 deletion syndrome, distal","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":"3","triplosensitivity_score":null,"required_overlap_percentage":80,"type_of_variants":"cnv_loss","publications":["18179902","23765049","21671380"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Chromosome 22q11.2 deletion syndrome, distal MIM#611867","intellectual disability","autism","multiple congenital anomalies"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"22","grch37_coordinates":null,"grch38_coordinates":[18924718,21111384],"tags":["SV/CNV"],"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":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37400-Gain","verbose_name":"Chromosome 16p11.2 duplication syndrome, 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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":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37467-Gain","verbose_name":"Chromosome 7q36.3 duplication syndrome (SHH cis-regulatory duplication, ZRS)","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":null,"triplosensitivity_score":"3","required_overlap_percentage":80,"type_of_variants":"cnv_gain","publications":["19847792","33218365","32184803","28035386","25944787"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Syndactyly, type IV, MIM#\t186200","limb anomalies","congenital heart disease","congenital anomalies"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"7","grch37_coordinates":null,"grch38_coordinates":[156791102,156791874],"tags":[],"panel":{"id":3443,"hash_id":null,"name":"Common deletion and duplication syndromes","disease_group":"","disease_sub_group":"","description":"Under construction","status":"public","version":"0.156","version_created":"2026-02-06T14:14:01.107904+11:00","relevant_disorders":[],"stats":{"number_of_genes":0,"number_of_strs":0,"number_of_regions":71},"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":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37392-Loss","verbose_name":"Williams-Beuren syndrome, 7q11.23 deletion 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well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}}]}